Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Pkhd1'

369754

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1

Ensembl Gene

ENSMUSG00000043760

Gene Name

polycystic kidney and hepatic disease 1

Synonyms

FPC, tigmin

MMRRC Submission

042434-MU

Accession Numbers

Genbank: NM_153179; MGI: 2155808

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20057779-20618064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20199415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 3302 (I3302L)

Ref Sequence

ENSEMBL: ENSMUSP00000085794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088448]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000088448
AA Change: I3302L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085794
Gene: ENSMUSG00000043760
AA Change: I3302L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:IPT	134	254	1e-45	BLAST
IPT	256	353	1.13e-3	SMART
low complexity region	722	743	N/A	INTRINSIC
low complexity region	896	909	N/A	INTRINSIC
Pfam:TIG	936	1005	9.1e-8	PFAM
IPT	1016	1101	1.18e-6	SMART
IPT	1105	1190	1.27e0	SMART
IPT	1193	1290	7.05e-5	SMART
IPT	1384	1467	1.36e1	SMART
IPT	1568	1655	2.4e0	SMART
low complexity region	1881	1892	N/A	INTRINSIC
G8	1928	2049	1.15e-48	SMART
low complexity region	2079	2094	N/A	INTRINSIC
PbH1	2244	2266	7.82e3	SMART
PbH1	2287	2321	2.23e3	SMART
PbH1	2404	2426	7.19e2	SMART
PbH1	2459	2481	2.64e2	SMART
low complexity region	2713	2728	N/A	INTRINSIC
G8	2734	2867	1.73e-43	SMART
Blast:G8	2876	2923	2e-17	BLAST
PbH1	3004	3026	3.98e3	SMART
PbH1	3027	3049	1.27e0	SMART
PbH1	3080	3102	5.92e2	SMART
low complexity region	3178	3187	N/A	INTRINSIC
PbH1	3188	3212	8.08e3	SMART
transmembrane domain	3852	3874	N/A	INTRINSIC

Meta Mutation Damage Score

0.1431

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(4)

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,615,243 (GRCm38)	I248S	possibly damaging	Het
8030462N17Rik	A	T	18: 77,653,299 (GRCm38)		probably null	Het
Abcc8	C	A	7: 46,104,707 (GRCm38)	A1562S	probably benign	Het
Adam30	C	A	3: 98,162,745 (GRCm38)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,528,674 (GRCm38)	T2013A	probably damaging	Het
Als2cr12	G	A	1: 58,670,408 (GRCm38)	A196V	probably benign	Het
Baiap3	T	A	17: 25,247,295 (GRCm38)		probably benign	Het
Bicra	T	C	7: 15,988,906 (GRCm38)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,982,364 (GRCm38)		probably benign	Het
C2cd3	C	A	7: 100,391,019 (GRCm38)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,115,269 (GRCm38)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,568,991 (GRCm38)		probably null	Het
Cdcp2	A	G	4: 107,106,772 (GRCm38)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,409,077 (GRCm38)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,479,222 (GRCm38)	I39N	probably damaging	Het
Cep152	A	C	2: 125,563,754 (GRCm38)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,245,108 (GRCm38)	I42T	probably damaging	Het
Cfap61	G	T	2: 146,143,100 (GRCm38)	V955L	probably damaging	Het
Cit	G	A	5: 115,908,691 (GRCm38)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,810,852 (GRCm38)	M328V	probably benign	Het
Cntn4	A	T	6: 106,550,497 (GRCm38)	I447L	probably benign	Het
Csmd3	T	C	15: 47,857,934 (GRCm38)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,372,985 (GRCm38)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,575,150 (GRCm38)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,333,722 (GRCm38)	T550S	probably benign	Het
Dtnb	A	G	12: 3,749,505 (GRCm38)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,789,758 (GRCm38)		probably benign	Het
Efl1	T	A	7: 82,671,719 (GRCm38)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,484,003 (GRCm38)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,806,366 (GRCm38)	Y22C	probably damaging	Het
Gbp3	T	C	3: 142,567,574 (GRCm38)	V294A	probably damaging	Het
Gls	A	G	1: 52,199,945 (GRCm38)		probably benign	Het
Gm15130	A	T	2: 111,135,369 (GRCm38)		probably benign	Het
Gm6185	A	T	1: 161,213,158 (GRCm38)		noncoding transcript	Het
Gpr171	T	A	3: 59,098,096 (GRCm38)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,339,248 (GRCm38)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,283,820 (GRCm38)	V124E	probably damaging	Het
H2-M5	A	G	17: 36,989,417 (GRCm38)		probably benign	Het
Hist1h2bl	A	G	13: 21,715,965 (GRCm38)	M60T	probably benign	Het
Igf2r	A	T	17: 12,684,097 (GRCm38)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,192,654 (GRCm38)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,406,550 (GRCm38)	T313A	probably benign	Het
Kalrn	C	T	16: 34,514,019 (GRCm38)		probably benign	Het
Lama3	G	A	18: 12,477,604 (GRCm38)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,670,375 (GRCm38)	C242*	probably null	Het
Lipe	A	G	7: 25,380,143 (GRCm38)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 70,618,076 (GRCm38)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,568,866 (GRCm38)		probably null	Het
Lrrd1	T	A	5: 3,851,126 (GRCm38)	L477*	probably null	Het
Lrriq4	A	G	3: 30,660,047 (GRCm38)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,381,092 (GRCm38)	Y1248C	unknown	Het
Maml1	G	T	11: 50,258,335 (GRCm38)	N859K	possibly damaging	Het
Mdm1	A	T	10: 118,146,877 (GRCm38)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,168,090 (GRCm38)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,211,021 (GRCm38)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,604,097 (GRCm38)	V405A	probably damaging	Het
Naip5	T	C	13: 100,219,696 (GRCm38)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,219,687 (GRCm38)	T1140M	probably benign	Het
Naip5	G	A	13: 100,219,681 (GRCm38)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,456,624 (GRCm38)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,548,301 (GRCm38)	I235V	probably benign	Het
Nyap2	T	A	1: 81,241,313 (GRCm38)	L318Q	probably damaging	Het
Nynrin	G	A	14: 55,872,001 (GRCm38)	V1522M	probably damaging	Het
Olfr1016	A	T	2: 85,800,047 (GRCm38)	N74K	probably benign	Het
Olfr1461	A	G	19: 13,165,124 (GRCm38)	I37V	probably benign	Het
Olfr659	C	T	7: 104,670,735 (GRCm38)	P11L	probably benign	Het
Olfr810	T	C	10: 129,791,439 (GRCm38)	D50G	probably damaging	Het
Olfr875	T	A	9: 37,773,430 (GRCm38)	M257K	possibly damaging	Het
Oog3	A	G	4: 144,159,161 (GRCm38)	L289P	probably damaging	Het
Pax6	T	C	2: 105,683,784 (GRCm38)		probably benign	Het
Pbrm1	G	A	14: 31,110,448 (GRCm38)	R1441K	probably benign	Het
Pcdha9	C	T	18: 36,999,458 (GRCm38)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,487,397 (GRCm38)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,687,995 (GRCm38)		probably null	Het
Pds5a	A	T	5: 65,651,289 (GRCm38)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,574,320 (GRCm38)		probably benign	Het
Phykpl	A	G	11: 51,592,953 (GRCm38)	E220G	probably benign	Het
Pias2	T	C	18: 77,105,891 (GRCm38)		probably null	Het
Poli	A	G	18: 70,522,751 (GRCm38)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,679,379 (GRCm38)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,856,800 (GRCm38)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,198,397 (GRCm38)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,822,576 (GRCm38)	F59S	probably benign	Het
Serpinb5	G	T	1: 106,872,339 (GRCm38)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,413,646 (GRCm38)	T412I	probably benign	Het
Shank2	C	A	7: 144,052,306 (GRCm38)	N75K	probably damaging	Het
Shank3	T	A	15: 89,543,115 (GRCm38)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm38)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,713,838 (GRCm38)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,069,020 (GRCm38)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm38)	T292A	probably benign	Het
Spag9	T	C	11: 94,048,599 (GRCm38)		probably benign	Het
Tas2r113	C	T	6: 132,893,782 (GRCm38)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,138,741 (GRCm38)	S530G	probably benign	Het
Tenm2	A	G	11: 36,027,290 (GRCm38)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,641,149 (GRCm38)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,578,784 (GRCm38)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,788,281 (GRCm38)	E195V	probably damaging	Het
Try5	T	C	6: 41,313,415 (GRCm38)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm38)		probably benign	Het
Vmn2r105	T	C	17: 20,208,691 (GRCm38)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,867,947 (GRCm38)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,997,768 (GRCm38)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,415,694 (GRCm38)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,714,248 (GRCm38)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,674,286 (GRCm38)	T642I	possibly damaging	Het

Other mutations in Pkhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Pkhd1	APN	1	20,566,874 (GRCm38)	critical splice acceptor site	probably null
IGL00687:Pkhd1	APN	1	20,524,070 (GRCm38)	missense	probably benign	0.19
IGL00824:Pkhd1	APN	1	20,081,184 (GRCm38)	critical splice donor site	probably null
IGL00870:Pkhd1	APN	1	20,571,390 (GRCm38)	missense	probably damaging	1.00
IGL00911:Pkhd1	APN	1	20,117,747 (GRCm38)	missense	probably benign	0.00
IGL01015:Pkhd1	APN	1	20,523,258 (GRCm38)	missense	possibly damaging	0.95
IGL01025:Pkhd1	APN	1	20,209,176 (GRCm38)	missense	probably benign	0.04
IGL01064:Pkhd1	APN	1	20,534,530 (GRCm38)	splice site	probably benign
IGL01313:Pkhd1	APN	1	20,201,024 (GRCm38)	missense	probably damaging	1.00
IGL01340:Pkhd1	APN	1	20,522,977 (GRCm38)	missense	probably benign	0.01
IGL01352:Pkhd1	APN	1	20,549,715 (GRCm38)	missense	probably benign	0.34
IGL01456:Pkhd1	APN	1	20,199,459 (GRCm38)	missense	probably damaging	1.00
IGL01530:Pkhd1	APN	1	20,559,419 (GRCm38)	critical splice donor site	probably null
IGL01557:Pkhd1	APN	1	20,116,979 (GRCm38)	missense	possibly damaging	0.59
IGL01655:Pkhd1	APN	1	20,534,633 (GRCm38)	nonsense	probably null
IGL01790:Pkhd1	APN	1	20,558,671 (GRCm38)	missense	probably damaging	0.96
IGL01862:Pkhd1	APN	1	20,358,910 (GRCm38)	missense	probably damaging	1.00
IGL01874:Pkhd1	APN	1	20,103,235 (GRCm38)	missense	probably benign	0.32
IGL01901:Pkhd1	APN	1	20,220,083 (GRCm38)	missense	probably benign	0.11
IGL01903:Pkhd1	APN	1	20,198,137 (GRCm38)	missense	probably damaging	1.00
IGL01981:Pkhd1	APN	1	20,523,567 (GRCm38)	missense	possibly damaging	0.64
IGL02068:Pkhd1	APN	1	20,522,747 (GRCm38)	missense	probably damaging	1.00
IGL02083:Pkhd1	APN	1	20,201,227 (GRCm38)	missense	probably damaging	1.00
IGL02084:Pkhd1	APN	1	20,377,399 (GRCm38)	missense	probably damaging	1.00
IGL02126:Pkhd1	APN	1	20,117,195 (GRCm38)	missense	probably damaging	1.00
IGL02136:Pkhd1	APN	1	20,275,615 (GRCm38)	missense	probably damaging	1.00
IGL02255:Pkhd1	APN	1	20,584,101 (GRCm38)	missense	probably damaging	1.00
IGL02272:Pkhd1	APN	1	20,209,260 (GRCm38)	missense	probably damaging	1.00
IGL02308:Pkhd1	APN	1	20,070,376 (GRCm38)	critical splice donor site	probably null
IGL02364:Pkhd1	APN	1	20,200,783 (GRCm38)	missense	probably benign
IGL02389:Pkhd1	APN	1	20,117,720 (GRCm38)	missense	probably damaging	0.99
IGL02394:Pkhd1	APN	1	20,199,486 (GRCm38)	missense	possibly damaging	0.57
IGL02403:Pkhd1	APN	1	20,562,418 (GRCm38)	missense	probably benign	0.01
IGL02415:Pkhd1	APN	1	20,414,421 (GRCm38)	missense	probably damaging	1.00
IGL02415:Pkhd1	APN	1	20,522,759 (GRCm38)	missense	probably damaging	1.00
IGL02455:Pkhd1	APN	1	20,364,201 (GRCm38)	missense	probably damaging	1.00
IGL02502:Pkhd1	APN	1	20,392,165 (GRCm38)	missense	probably damaging	1.00
IGL02511:Pkhd1	APN	1	20,073,507 (GRCm38)	missense	possibly damaging	0.90
IGL02530:Pkhd1	APN	1	20,117,720 (GRCm38)	missense	probably damaging	0.99
IGL02532:Pkhd1	APN	1	20,117,720 (GRCm38)	missense	probably damaging	0.99
IGL02534:Pkhd1	APN	1	20,117,720 (GRCm38)	missense	probably damaging	0.99
IGL02556:Pkhd1	APN	1	20,310,710 (GRCm38)	missense	probably damaging	1.00
IGL02570:Pkhd1	APN	1	20,520,256 (GRCm38)	missense	probably damaging	0.99
IGL02605:Pkhd1	APN	1	20,550,902 (GRCm38)	missense	possibly damaging	0.66
IGL02641:Pkhd1	APN	1	20,558,752 (GRCm38)	missense	possibly damaging	0.61
IGL02741:Pkhd1	APN	1	20,220,029 (GRCm38)	splice site	probably benign
IGL02752:Pkhd1	APN	1	20,553,591 (GRCm38)	missense	possibly damaging	0.57
IGL02890:Pkhd1	APN	1	20,361,011 (GRCm38)	missense	probably damaging	1.00
IGL02959:Pkhd1	APN	1	20,608,416 (GRCm38)	nonsense	probably null
IGL02960:Pkhd1	APN	1	20,377,446 (GRCm38)	missense	possibly damaging	0.69
IGL02990:Pkhd1	APN	1	20,522,963 (GRCm38)	missense	possibly damaging	0.52
IGL03037:Pkhd1	APN	1	20,522,699 (GRCm38)	missense	probably benign	0.06
IGL03082:Pkhd1	APN	1	20,565,633 (GRCm38)	missense	probably damaging	1.00
IGL03114:Pkhd1	APN	1	20,198,171 (GRCm38)	missense	probably damaging	0.99
IGL03288:Pkhd1	APN	1	20,201,019 (GRCm38)	missense	probably benign	0.01
IGL03328:Pkhd1	APN	1	20,081,300 (GRCm38)	splice site	probably benign
IGL03375:Pkhd1	APN	1	20,117,023 (GRCm38)	missense	probably damaging	1.00
IGL03380:Pkhd1	APN	1	20,200,670 (GRCm38)	missense	probably damaging	1.00
0152:Pkhd1	UTSW	1	20,522,894 (GRCm38)	missense	possibly damaging	0.46
IGL03046:Pkhd1	UTSW	1	20,537,365 (GRCm38)	missense	possibly damaging	0.81
LCD18:Pkhd1	UTSW	1	20,611,414 (GRCm38)	intron	probably benign
P0035:Pkhd1	UTSW	1	20,117,347 (GRCm38)	missense	probably benign	0.00
PIT4260001:Pkhd1	UTSW	1	20,222,906 (GRCm38)	missense	possibly damaging	0.51
R0063:Pkhd1	UTSW	1	20,211,950 (GRCm38)	missense	probably benign	0.02
R0063:Pkhd1	UTSW	1	20,211,950 (GRCm38)	missense	probably benign	0.02
R0071:Pkhd1	UTSW	1	20,201,344 (GRCm38)	missense	probably benign	0.11
R0071:Pkhd1	UTSW	1	20,201,344 (GRCm38)	missense	probably benign	0.11
R0094:Pkhd1	UTSW	1	20,209,246 (GRCm38)	missense	probably damaging	1.00
R0094:Pkhd1	UTSW	1	20,209,246 (GRCm38)	missense	probably damaging	1.00
R0103:Pkhd1	UTSW	1	20,523,359 (GRCm38)	missense	probably benign	0.04
R0103:Pkhd1	UTSW	1	20,523,359 (GRCm38)	missense	probably benign	0.04
R0105:Pkhd1	UTSW	1	20,523,732 (GRCm38)	nonsense	probably null
R0105:Pkhd1	UTSW	1	20,523,732 (GRCm38)	nonsense	probably null
R0115:Pkhd1	UTSW	1	20,350,490 (GRCm38)	missense	probably damaging	1.00
R0193:Pkhd1	UTSW	1	20,358,917 (GRCm38)	missense	probably damaging	1.00
R0245:Pkhd1	UTSW	1	20,540,400 (GRCm38)	missense	probably benign	0.03
R0277:Pkhd1	UTSW	1	20,275,538 (GRCm38)	missense	probably benign	0.04
R0310:Pkhd1	UTSW	1	20,549,822 (GRCm38)	splice site	probably null
R0323:Pkhd1	UTSW	1	20,275,538 (GRCm38)	missense	probably benign	0.04
R0395:Pkhd1	UTSW	1	20,381,547 (GRCm38)	missense	probably benign	0.26
R0412:Pkhd1	UTSW	1	20,117,788 (GRCm38)	missense	probably damaging	1.00
R0506:Pkhd1	UTSW	1	20,559,469 (GRCm38)	missense	probably benign	0.00
R0512:Pkhd1	UTSW	1	20,310,514 (GRCm38)	splice site	probably benign
R0550:Pkhd1	UTSW	1	20,347,223 (GRCm38)	missense	probably null	1.00
R0584:Pkhd1	UTSW	1	20,239,436 (GRCm38)	nonsense	probably null
R0586:Pkhd1	UTSW	1	20,524,111 (GRCm38)	missense	probably benign	0.04
R0598:Pkhd1	UTSW	1	20,200,890 (GRCm38)	missense	probably damaging	1.00
R0603:Pkhd1	UTSW	1	20,117,173 (GRCm38)	missense	probably benign	0.05
R0634:Pkhd1	UTSW	1	20,117,474 (GRCm38)	missense	probably damaging	1.00
R0677:Pkhd1	UTSW	1	20,524,230 (GRCm38)	missense	probably benign	0.01
R0746:Pkhd1	UTSW	1	20,198,107 (GRCm38)	missense	probably damaging	1.00
R0781:Pkhd1	UTSW	1	20,117,484 (GRCm38)	missense	probably benign	0.01
R0840:Pkhd1	UTSW	1	20,350,521 (GRCm38)	missense	probably damaging	0.98
R0946:Pkhd1	UTSW	1	20,199,381 (GRCm38)	missense	probably benign	0.10
R1018:Pkhd1	UTSW	1	20,201,259 (GRCm38)	missense	possibly damaging	0.89
R1028:Pkhd1	UTSW	1	20,117,726 (GRCm38)	missense	probably damaging	1.00
R1136:Pkhd1	UTSW	1	20,522,829 (GRCm38)	missense	possibly damaging	0.68
R1178:Pkhd1	UTSW	1	20,585,157 (GRCm38)	critical splice donor site	probably null
R1180:Pkhd1	UTSW	1	20,585,157 (GRCm38)	critical splice donor site	probably null
R1222:Pkhd1	UTSW	1	20,567,456 (GRCm38)	missense	probably benign	0.07
R1334:Pkhd1	UTSW	1	20,533,905 (GRCm38)	missense	possibly damaging	0.81
R1335:Pkhd1	UTSW	1	20,571,405 (GRCm38)	missense	probably damaging	1.00
R1387:Pkhd1	UTSW	1	20,555,223 (GRCm38)	splice site	probably benign
R1411:Pkhd1	UTSW	1	20,373,896 (GRCm38)	missense	probably damaging	1.00
R1443:Pkhd1	UTSW	1	20,534,558 (GRCm38)	missense	probably damaging	1.00
R1448:Pkhd1	UTSW	1	20,585,157 (GRCm38)	critical splice donor site	probably null
R1468:Pkhd1	UTSW	1	20,523,341 (GRCm38)	missense	probably damaging	1.00
R1468:Pkhd1	UTSW	1	20,523,341 (GRCm38)	missense	probably damaging	1.00
R1473:Pkhd1	UTSW	1	20,522,983 (GRCm38)	missense	probably benign	0.00
R1524:Pkhd1	UTSW	1	20,117,780 (GRCm38)	missense	probably damaging	1.00
R1532:Pkhd1	UTSW	1	20,117,401 (GRCm38)	missense	probably benign	0.08
R1565:Pkhd1	UTSW	1	20,347,457 (GRCm38)	missense	probably damaging	1.00
R1572:Pkhd1	UTSW	1	20,347,440 (GRCm38)	missense	probably benign	0.02
R1583:Pkhd1	UTSW	1	20,117,825 (GRCm38)	missense	probably benign
R1617:Pkhd1	UTSW	1	20,198,050 (GRCm38)	missense	possibly damaging	0.95
R1631:Pkhd1	UTSW	1	20,522,897 (GRCm38)	missense	probably benign	0.06
R1655:Pkhd1	UTSW	1	20,584,129 (GRCm38)	missense	probably damaging	1.00
R1707:Pkhd1	UTSW	1	20,550,840 (GRCm38)	splice site	probably benign
R1753:Pkhd1	UTSW	1	20,533,905 (GRCm38)	missense	possibly damaging	0.81
R1782:Pkhd1	UTSW	1	20,565,711 (GRCm38)	missense	probably damaging	0.98
R1791:Pkhd1	UTSW	1	20,585,152 (GRCm38)	splice site	probably benign
R1822:Pkhd1	UTSW	1	20,347,457 (GRCm38)	missense	probably damaging	1.00
R1823:Pkhd1	UTSW	1	20,347,457 (GRCm38)	missense	probably damaging	1.00
R1824:Pkhd1	UTSW	1	20,347,457 (GRCm38)	missense	probably damaging	1.00
R1836:Pkhd1	UTSW	1	20,117,069 (GRCm38)	missense	probably benign	0.01
R1862:Pkhd1	UTSW	1	20,551,020 (GRCm38)	missense	probably benign	0.00
R1863:Pkhd1	UTSW	1	20,551,020 (GRCm38)	missense	probably benign	0.00
R1869:Pkhd1	UTSW	1	20,615,267 (GRCm38)	critical splice donor site	probably null
R1913:Pkhd1	UTSW	1	20,566,756 (GRCm38)	critical splice donor site	probably null
R1928:Pkhd1	UTSW	1	20,081,300 (GRCm38)	splice site	probably benign
R1969:Pkhd1	UTSW	1	20,381,523 (GRCm38)	missense	probably damaging	1.00
R1970:Pkhd1	UTSW	1	20,381,523 (GRCm38)	missense	probably damaging	1.00
R1981:Pkhd1	UTSW	1	20,117,060 (GRCm38)	missense	probably benign	0.00
R2008:Pkhd1	UTSW	1	20,199,459 (GRCm38)	missense	probably damaging	0.99
R2034:Pkhd1	UTSW	1	20,200,669 (GRCm38)	missense	probably damaging	1.00
R2061:Pkhd1	UTSW	1	20,612,812 (GRCm38)	missense	possibly damaging	0.76
R2062:Pkhd1	UTSW	1	20,201,335 (GRCm38)	missense	probably damaging	0.97
R2108:Pkhd1	UTSW	1	20,553,574 (GRCm38)	nonsense	probably null
R2142:Pkhd1	UTSW	1	20,523,895 (GRCm38)	missense	probably benign	0.00
R2148:Pkhd1	UTSW	1	20,414,220 (GRCm38)	critical splice donor site	probably null
R2176:Pkhd1	UTSW	1	20,553,517 (GRCm38)	missense	probably damaging	1.00
R2202:Pkhd1	UTSW	1	20,537,360 (GRCm38)	missense	probably benign	0.06
R2255:Pkhd1	UTSW	1	20,565,639 (GRCm38)	missense	probably benign	0.23
R2269:Pkhd1	UTSW	1	20,534,535 (GRCm38)	critical splice donor site	probably null
R2275:Pkhd1	UTSW	1	20,200,849 (GRCm38)	missense	possibly damaging	0.95
R2340:Pkhd1	UTSW	1	20,200,855 (GRCm38)	missense	probably damaging	1.00
R2431:Pkhd1	UTSW	1	20,201,165 (GRCm38)	missense	possibly damaging	0.63
R2679:Pkhd1	UTSW	1	20,209,182 (GRCm38)	missense	probably benign	0.03
R2850:Pkhd1	UTSW	1	20,509,076 (GRCm38)	missense	possibly damaging	0.89
R2851:Pkhd1	UTSW	1	20,058,302 (GRCm38)	missense	probably benign	0.16
R2853:Pkhd1	UTSW	1	20,058,302 (GRCm38)	missense	probably benign	0.16
R2984:Pkhd1	UTSW	1	20,222,961 (GRCm38)	missense	possibly damaging	0.84
R2987:Pkhd1	UTSW	1	20,104,599 (GRCm38)	missense	possibly damaging	0.87
R3692:Pkhd1	UTSW	1	20,555,129 (GRCm38)	missense	possibly damaging	0.87
R3721:Pkhd1	UTSW	1	20,585,655 (GRCm38)	missense	probably benign	0.08
R3746:Pkhd1	UTSW	1	20,058,300 (GRCm38)	makesense	probably null
R3838:Pkhd1	UTSW	1	20,534,629 (GRCm38)	missense	possibly damaging	0.66
R3843:Pkhd1	UTSW	1	20,558,723 (GRCm38)	missense	probably benign	0.00
R3861:Pkhd1	UTSW	1	20,200,927 (GRCm38)	missense	probably damaging	1.00
R3893:Pkhd1	UTSW	1	20,312,138 (GRCm38)	nonsense	probably null
R3926:Pkhd1	UTSW	1	20,550,873 (GRCm38)	missense	probably benign	0.00
R4183:Pkhd1	UTSW	1	20,117,807 (GRCm38)	missense	probably benign	0.03
R4184:Pkhd1	UTSW	1	20,563,686 (GRCm38)	missense	probably benign	0.06
R4184:Pkhd1	UTSW	1	20,209,277 (GRCm38)	missense	probably benign	0.03
R4255:Pkhd1	UTSW	1	20,593,934 (GRCm38)	missense	probably damaging	0.99
R4275:Pkhd1	UTSW	1	20,058,384 (GRCm38)	missense	probably benign	0.00
R4342:Pkhd1	UTSW	1	20,058,617 (GRCm38)	missense	probably benign	0.00
R4386:Pkhd1	UTSW	1	20,414,292 (GRCm38)	missense	probably benign	0.00
R4402:Pkhd1	UTSW	1	20,239,411 (GRCm38)	missense	probably damaging	1.00
R4431:Pkhd1	UTSW	1	20,523,314 (GRCm38)	missense	probably damaging	0.99
R4560:Pkhd1	UTSW	1	20,211,858 (GRCm38)	missense	probably damaging	1.00
R4561:Pkhd1	UTSW	1	20,534,719 (GRCm38)	missense	possibly damaging	0.89
R4570:Pkhd1	UTSW	1	20,381,523 (GRCm38)	missense	probably damaging	1.00
R4571:Pkhd1	UTSW	1	20,613,409 (GRCm38)	missense	probably damaging	1.00
R4588:Pkhd1	UTSW	1	20,200,868 (GRCm38)	missense	probably benign	0.00
R4598:Pkhd1	UTSW	1	20,503,056 (GRCm38)	missense	probably damaging	1.00
R4651:Pkhd1	UTSW	1	20,381,523 (GRCm38)	missense	probably damaging	1.00
R4657:Pkhd1	UTSW	1	20,364,167 (GRCm38)	missense	possibly damaging	0.89
R4718:Pkhd1	UTSW	1	20,081,228 (GRCm38)	missense	probably damaging	1.00
R4740:Pkhd1	UTSW	1	20,524,130 (GRCm38)	missense	probably benign
R4750:Pkhd1	UTSW	1	20,524,112 (GRCm38)	missense	possibly damaging	0.57
R4825:Pkhd1	UTSW	1	20,537,401 (GRCm38)	missense	probably damaging	0.96
R4885:Pkhd1	UTSW	1	20,070,488 (GRCm38)	missense	possibly damaging	0.55
R4907:Pkhd1	UTSW	1	20,209,226 (GRCm38)	missense	probably damaging	1.00
R4944:Pkhd1	UTSW	1	20,288,205 (GRCm38)	missense	probably null	0.01
R5062:Pkhd1	UTSW	1	20,585,711 (GRCm38)	missense	probably benign	0.00
R5090:Pkhd1	UTSW	1	20,200,757 (GRCm38)	missense	probably damaging	1.00
R5104:Pkhd1	UTSW	1	20,585,191 (GRCm38)	missense	probably damaging	1.00
R5187:Pkhd1	UTSW	1	20,209,224 (GRCm38)	missense	possibly damaging	0.67
R5202:Pkhd1	UTSW	1	20,547,341 (GRCm38)	missense	probably benign	0.01
R5240:Pkhd1	UTSW	1	20,275,641 (GRCm38)	missense	probably benign	0.04
R5248:Pkhd1	UTSW	1	20,534,545 (GRCm38)	missense	probably benign	0.00
R5252:Pkhd1	UTSW	1	20,350,411 (GRCm38)	critical splice donor site	probably null
R5293:Pkhd1	UTSW	1	20,509,076 (GRCm38)	missense	possibly damaging	0.89
R5311:Pkhd1	UTSW	1	20,565,870 (GRCm38)	missense	possibly damaging	0.94
R5317:Pkhd1	UTSW	1	20,450,304 (GRCm38)	missense	probably damaging	1.00
R5346:Pkhd1	UTSW	1	20,523,434 (GRCm38)	missense	probably damaging	0.96
R5346:Pkhd1	UTSW	1	20,392,097 (GRCm38)	missense	probably benign
R5431:Pkhd1	UTSW	1	20,117,836 (GRCm38)	missense	probably benign	0.25
R5447:Pkhd1	UTSW	1	20,239,385 (GRCm38)	missense	probably benign	0.00
R5478:Pkhd1	UTSW	1	20,201,156 (GRCm38)	missense	probably damaging	1.00
R5497:Pkhd1	UTSW	1	20,377,404 (GRCm38)	missense	possibly damaging	0.94
R5554:Pkhd1	UTSW	1	20,081,252 (GRCm38)	missense	probably damaging	0.99
R5579:Pkhd1	UTSW	1	20,523,142 (GRCm38)	missense	probably damaging	0.96
R5614:Pkhd1	UTSW	1	20,073,526 (GRCm38)	missense	possibly damaging	0.83
R5648:Pkhd1	UTSW	1	20,558,626 (GRCm38)	missense	probably benign	0.04
R5651:Pkhd1	UTSW	1	20,117,807 (GRCm38)	missense	probably benign	0.03
R5665:Pkhd1	UTSW	1	20,588,531 (GRCm38)	missense	probably damaging	1.00
R5681:Pkhd1	UTSW	1	20,547,461 (GRCm38)	missense	possibly damaging	0.61
R5754:Pkhd1	UTSW	1	20,523,651 (GRCm38)	nonsense	probably null
R5760:Pkhd1	UTSW	1	20,073,554 (GRCm38)	missense	probably benign	0.02
R5776:Pkhd1	UTSW	1	20,209,185 (GRCm38)	missense	possibly damaging	0.62
R5782:Pkhd1	UTSW	1	20,058,600 (GRCm38)	missense	probably benign
R5810:Pkhd1	UTSW	1	20,200,673 (GRCm38)	missense	probably benign	0.26
R5814:Pkhd1	UTSW	1	20,199,405 (GRCm38)	missense	probably damaging	1.00
R5816:Pkhd1	UTSW	1	20,058,678 (GRCm38)	missense	probably benign	0.03
R5835:Pkhd1	UTSW	1	20,201,083 (GRCm38)	missense	probably benign	0.01
R5844:Pkhd1	UTSW	1	20,381,461 (GRCm38)	missense	probably benign	0.00
R5847:Pkhd1	UTSW	1	20,374,736 (GRCm38)	nonsense	probably null
R5852:Pkhd1	UTSW	1	20,377,408 (GRCm38)	missense	probably benign	0.22
R5863:Pkhd1	UTSW	1	20,520,210 (GRCm38)	missense	possibly damaging	0.63
R6213:Pkhd1	UTSW	1	20,523,770 (GRCm38)	missense	possibly damaging	0.80
R6351:Pkhd1	UTSW	1	20,211,951 (GRCm38)	missense	probably benign	0.00
R6386:Pkhd1	UTSW	1	20,551,020 (GRCm38)	missense	probably damaging	0.96
R6542:Pkhd1	UTSW	1	20,585,703 (GRCm38)	missense	probably benign	0.02
R6579:Pkhd1	UTSW	1	20,200,823 (GRCm38)	missense	probably benign	0.01
R6658:Pkhd1	UTSW	1	20,612,705 (GRCm38)	missense	probably damaging	1.00
R6765:Pkhd1	UTSW	1	20,058,339 (GRCm38)	missense	probably benign
R6886:Pkhd1	UTSW	1	20,347,280 (GRCm38)	missense	probably benign	0.01
R6892:Pkhd1	UTSW	1	20,523,515 (GRCm38)	missense	probably damaging	1.00
R6900:Pkhd1	UTSW	1	20,534,701 (GRCm38)	missense	probably benign	0.06
R6932:Pkhd1	UTSW	1	20,562,451 (GRCm38)	missense	probably benign	0.19
R7191:Pkhd1	UTSW	1	20,558,719 (GRCm38)	missense	probably benign	0.00
R7220:Pkhd1	UTSW	1	20,523,126 (GRCm38)	missense	possibly damaging	0.89
R7329:Pkhd1	UTSW	1	20,547,519 (GRCm38)	missense	probably damaging	0.96
R7361:Pkhd1	UTSW	1	20,593,953 (GRCm38)	missense	probably damaging	1.00
R7381:Pkhd1	UTSW	1	20,200,973 (GRCm38)	missense	probably damaging	1.00
R7388:Pkhd1	UTSW	1	20,239,304 (GRCm38)	missense	not run
R7436:Pkhd1	UTSW	1	20,200,701 (GRCm38)	missense	probably benign
R7473:Pkhd1	UTSW	1	20,549,756 (GRCm38)	missense	probably damaging	0.99
R7578:Pkhd1	UTSW	1	20,347,361 (GRCm38)	missense	probably damaging	1.00
R7751:Pkhd1	UTSW	1	20,200,925 (GRCm38)	missense	probably damaging	1.00
R7755:Pkhd1	UTSW	1	20,547,493 (GRCm38)	missense	probably damaging	0.98
R7757:Pkhd1	UTSW	1	20,562,415 (GRCm38)	missense	probably damaging	1.00
R7832:Pkhd1	UTSW	1	20,502,999 (GRCm38)	missense	probably damaging	1.00
R7834:Pkhd1	UTSW	1	20,312,049 (GRCm38)	missense	probably benign
R7920:Pkhd1	UTSW	1	20,275,535 (GRCm38)	missense	probably damaging	1.00
R8014:Pkhd1	UTSW	1	20,508,891 (GRCm38)	critical splice donor site	probably null
R8034:Pkhd1	UTSW	1	20,381,438 (GRCm38)	missense	possibly damaging	0.94
R8085:Pkhd1	UTSW	1	20,613,415 (GRCm38)	missense	probably damaging	1.00
R8087:Pkhd1	UTSW	1	20,523,089 (GRCm38)	missense	probably damaging	1.00
R8103:Pkhd1	UTSW	1	20,200,757 (GRCm38)	missense	probably damaging	1.00
R8122:Pkhd1	UTSW	1	20,562,458 (GRCm38)	missense	probably damaging	1.00
R8273:Pkhd1	UTSW	1	20,537,420 (GRCm38)	splice site	probably benign
R8485:Pkhd1	UTSW	1	20,523,033 (GRCm38)	missense	probably damaging	1.00
R8504:Pkhd1	UTSW	1	20,520,208 (GRCm38)	missense	probably benign	0.10
R8544:Pkhd1	UTSW	1	20,522,975 (GRCm38)	missense	probably damaging	1.00
R8692:Pkhd1	UTSW	1	20,392,150 (GRCm38)	missense	probably damaging	1.00
R8787:Pkhd1	UTSW	1	20,288,237 (GRCm38)	missense	probably damaging	0.99
R8853:Pkhd1	UTSW	1	20,073,455 (GRCm38)	critical splice donor site	probably null
R8907:Pkhd1	UTSW	1	20,117,561 (GRCm38)	missense	possibly damaging	0.88
R8934:Pkhd1	UTSW	1	20,392,010 (GRCm38)	critical splice donor site	probably null
R8990:Pkhd1	UTSW	1	20,347,305 (GRCm38)	missense	probably benign	0.00
R8998:Pkhd1	UTSW	1	20,364,201 (GRCm38)	missense	probably damaging	1.00
R9024:Pkhd1	UTSW	1	20,522,751 (GRCm38)	missense	probably benign	0.24
R9035:Pkhd1	UTSW	1	20,502,952 (GRCm38)	missense	probably damaging	1.00
R9092:Pkhd1	UTSW	1	20,562,362 (GRCm38)	missense	probably benign	0.00
R9238:Pkhd1	UTSW	1	20,534,575 (GRCm38)	missense	possibly damaging	0.89
R9258:Pkhd1	UTSW	1	20,373,950 (GRCm38)	missense	probably damaging	0.99
R9262:Pkhd1	UTSW	1	20,548,127 (GRCm38)	missense	probably benign	0.01
R9297:Pkhd1	UTSW	1	20,222,894 (GRCm38)	missense	probably benign	0.06
R9452:Pkhd1	UTSW	1	20,612,729 (GRCm38)	missense	possibly damaging	0.77
R9515:Pkhd1	UTSW	1	20,567,517 (GRCm38)	missense	probably damaging	1.00
R9540:Pkhd1	UTSW	1	20,199,346 (GRCm38)	missense	probably benign	0.00
R9542:Pkhd1	UTSW	1	20,117,780 (GRCm38)	missense	probably damaging	1.00
R9629:Pkhd1	UTSW	1	20,392,213 (GRCm38)	missense	possibly damaging	0.63
R9644:Pkhd1	UTSW	1	20,547,466 (GRCm38)	missense	probably benign	0.04
R9739:Pkhd1	UTSW	1	20,350,484 (GRCm38)	missense	probably damaging	1.00
R9767:Pkhd1	UTSW	1	20,414,412 (GRCm38)	missense	probably benign
R9781:Pkhd1	UTSW	1	20,117,441 (GRCm38)	missense	possibly damaging	0.95
R9803:Pkhd1	UTSW	1	20,566,849 (GRCm38)	missense	probably damaging	1.00
X0012:Pkhd1	UTSW	1	20,373,926 (GRCm38)	missense	probably damaging	1.00
X0067:Pkhd1	UTSW	1	20,520,226 (GRCm38)	missense	probably damaging	1.00
Z1176:Pkhd1	UTSW	1	20,523,747 (GRCm38)	missense	possibly damaging	0.81
Z1177:Pkhd1	UTSW	1	20,523,621 (GRCm38)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,310,594 (GRCm38)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,117,883 (GRCm38)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,551,019 (GRCm38)	missense	probably benign
Z1177:Pkhd1	UTSW	1	20,523,938 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACCAGCCTTTTCTACAGG -3'
(R):5'- TGGATAGCTCAAATTAGTTCCTGG -3'

Sequencing Primer
(F):5'- AGCCTTTTCTACAGGGGTTTATTTC -3'
(R):5'- AGCTCAAATTAGTTCCTGGAATATG -3'

Posted On

2016-02-04