Mutagenetix > Incidental Mutation

Incidental Mutation 'R1822:Pkhd1'

206429

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1

Ensembl Gene

ENSMUSG00000043760

Gene Name

polycystic kidney and hepatic disease 1

Synonyms

FPC, tigmin

MMRRC Submission

039850-MU

Accession Numbers

Essential gene?

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

Stock #

R1822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20057779-20618064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20347457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 2490 (G2490V)

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: G2490V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085794
Gene: ENSMUSG00000043760
AA Change: G2490V

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

0.7736

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (105/108)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,957,075 (GRCm38)	T798K	possibly damaging	Het
Abtb1	T	C	6: 88,836,554 (GRCm38)	T401A	probably benign	Het
Adsl	G	T	15: 80,962,742 (GRCm38)	E70*	probably null	Het
Ahcyl2	A	G	6: 29,768,584 (GRCm38)		probably benign	Het
Akr1a1	A	G	4: 116,636,653 (GRCm38)	V310A	probably benign	Het
Alpk3	T	A	7: 81,076,931 (GRCm38)	C121*	probably null	Het
Amph	T	A	13: 18,948,455 (GRCm38)	I8N	probably damaging	Het
Ano2	G	A	6: 125,863,457 (GRCm38)	A364T	probably damaging	Het
Apbb2	T	C	5: 66,400,177 (GRCm38)	T314A	probably benign	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Atf7ip	A	G	6: 136,587,260 (GRCm38)	T834A	probably benign	Het
Brca2	T	G	5: 150,540,198 (GRCm38)	D1142E	probably benign	Het
Brd10	T	C	19: 29,716,414 (GRCm38)	N1960S	probably damaging	Het
Cap2	A	G	13: 46,615,347 (GRCm38)	S210G	probably benign	Het
Capn2	C	A	1: 182,472,960 (GRCm38)	E596D	possibly damaging	Het
Cdc27	A	T	11: 104,522,822 (GRCm38)	S358R	probably benign	Het
Cdhr3	C	T	12: 33,045,205 (GRCm38)	G622S	probably null	Het
Clip2	A	G	5: 134,503,227 (GRCm38)	Y540H	probably benign	Het
Crhr1	A	T	11: 104,133,072 (GRCm38)	M1L	probably benign	Het
Csmd1	T	C	8: 16,223,326 (GRCm38)	T831A	probably damaging	Het
Cwc22	T	C	2: 77,924,659 (GRCm38)		probably benign	Het
Cyp3a25	T	A	5: 145,984,953 (GRCm38)	K390N	probably damaging	Het
Cyp4a31	T	C	4: 115,566,613 (GRCm38)		probably null	Het
Cytip	A	C	2: 58,134,146 (GRCm38)	S221A	probably benign	Het
Dagla	G	A	19: 10,263,186 (GRCm38)	R227C	possibly damaging	Het
Dhx57	A	G	17: 80,253,085 (GRCm38)		probably null	Het
Dnah2	A	T	11: 69,514,804 (GRCm38)	D627E	probably damaging	Het
Dock8	A	G	19: 25,161,058 (GRCm38)	E1249G	probably benign	Het
Dpysl3	A	G	18: 43,342,328 (GRCm38)	V31A	probably benign	Het
Ecpas	A	G	4: 58,805,539 (GRCm38)		probably null	Het
Fan1	T	C	7: 64,372,806 (GRCm38)	N233S	probably benign	Het
Fras1	A	T	5: 96,770,688 (GRCm38)	I3528F	probably damaging	Het
Glipr1	T	A	10: 111,996,860 (GRCm38)	M58L	possibly damaging	Het
Gm10509	C	T	17: 21,690,858 (GRCm38)	P31S	possibly damaging	Het
Gm5070	T	C	3: 95,411,044 (GRCm38)		noncoding transcript	Het
Gramd1a	T	C	7: 31,142,573 (GRCm38)	N138S	probably damaging	Het
Grk5	T	C	19: 61,089,972 (GRCm38)	V489A	probably damaging	Het
Hmcn2	C	T	2: 31,383,692 (GRCm38)	S1352L	probably damaging	Het
Hoxa5	G	A	6: 52,202,732 (GRCm38)	T221I	probably damaging	Het
Hsd17b2	C	A	8: 117,758,749 (GRCm38)	P317Q	possibly damaging	Het
Ifi213	T	A	1: 173,589,842 (GRCm38)	S335C	probably damaging	Het
Izumo4	A	T	10: 80,703,895 (GRCm38)	D156V	probably damaging	Het
Khnyn	A	T	14: 55,885,852 (GRCm38)	E21V	probably damaging	Het
Kmt2d	C	T	15: 98,861,780 (GRCm38)	G1199E	unknown	Het
Lipk	T	C	19: 34,039,091 (GRCm38)	W240R	probably benign	Het
Lpar5	A	G	6: 125,081,415 (GRCm38)	D33G	possibly damaging	Het
Lrp11	A	G	10: 7,596,197 (GRCm38)	D219G	probably damaging	Het
Lrrcc1	T	C	3: 14,559,225 (GRCm38)		probably benign	Het
Man2a1	T	C	17: 64,740,842 (GRCm38)	C252R	probably damaging	Het
Map2k5	A	G	9: 63,235,303 (GRCm38)	F354L	possibly damaging	Het
Mlh3	T	C	12: 85,266,145 (GRCm38)		probably benign	Het
Mmp28	A	G	11: 83,444,219 (GRCm38)	I331T	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo3a	A	T	2: 22,340,280 (GRCm38)	Y509F	probably damaging	Het
Nckap1	A	G	2: 80,517,898 (GRCm38)	S898P	possibly damaging	Het
Nectin1	T	A	9: 43,791,077 (GRCm38)	Y40*	probably null	Het
Neurl1a	T	A	19: 47,257,459 (GRCm38)	V493E	probably benign	Het
Ntf3	A	C	6: 126,102,246 (GRCm38)	I99S	probably benign	Het
Or10ag53	T	C	2: 87,252,710 (GRCm38)	S258P	possibly damaging	Het
Or1l4	C	G	2: 37,201,980 (GRCm38)	H246Q	probably damaging	Het
Or1p1c	A	G	11: 74,270,240 (GRCm38)	T284A	probably benign	Het
Or2ak5	A	T	11: 58,720,307 (GRCm38)	V247E	probably damaging	Het
Or2i1	A	G	17: 37,196,831 (GRCm38)		probably benign	Het
Or2y1c	T	A	11: 49,470,968 (GRCm38)	F272L	probably benign	Het
Or6k8-ps1	C	T	1: 174,152,214 (GRCm38)	R233C	probably benign	Het
Otof	G	A	5: 30,378,710 (GRCm38)	T1343I	probably benign	Het
Otop2	A	T	11: 115,324,628 (GRCm38)	Y125F	probably benign	Het
Pate3	G	A	9: 35,646,105 (GRCm38)	T85I	probably benign	Het
Pdpk1	A	T	17: 24,098,176 (GRCm38)		probably benign	Het
Phf11d	T	C	14: 59,356,329 (GRCm38)	H132R	probably benign	Het
Pik3c3	G	A	18: 30,344,077 (GRCm38)		probably null	Het
Prkdc	G	A	16: 15,759,605 (GRCm38)	D2372N	probably damaging	Het
Ptprq	C	T	10: 107,718,478 (GRCm38)	E129K	probably damaging	Het
Pym1	G	A	10: 128,766,044 (GRCm38)		probably benign	Het
Ralgapb	T	A	2: 158,492,452 (GRCm38)	V1027E	probably damaging	Het
Rita1	T	C	5: 120,609,580 (GRCm38)	T218A	possibly damaging	Het
Rrh	T	A	3: 129,812,633 (GRCm38)	T218S	probably damaging	Het
Scaper	C	T	9: 55,859,900 (GRCm38)	A416T	probably damaging	Het
Scn3a	A	G	2: 65,484,372 (GRCm38)	L1115P	probably damaging	Het
Serpinb6e	A	T	13: 33,833,234 (GRCm38)	S268T	probably damaging	Het
Skic3	C	A	13: 76,130,288 (GRCm38)	H574N	probably benign	Het
Slc1a6	G	A	10: 78,812,931 (GRCm38)	W495*	probably null	Het
Slc32a1	A	G	2: 158,611,378 (GRCm38)	H46R	probably benign	Het
Slc37a1	C	T	17: 31,300,431 (GRCm38)		probably benign	Het
Slc6a5	T	A	7: 49,956,425 (GRCm38)	W694R	probably benign	Het
Smarcd2	A	T	11: 106,267,396 (GRCm38)	D113E	probably benign	Het
Sod3	G	T	5: 52,368,162 (GRCm38)	V68L	probably benign	Het
Srpk3	G	A	X: 73,777,955 (GRCm38)	R425Q	possibly damaging	Het
Sspo	A	T	6: 48,492,886 (GRCm38)	Q4506L	possibly damaging	Het
Stam2	T	A	2: 52,716,527 (GRCm38)	E115D	probably damaging	Het
Sult1c1	A	T	17: 53,973,925 (GRCm38)	L50H	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569 (GRCm38)	V22A	possibly damaging	Het
Togaram1	T	G	12: 64,995,635 (GRCm38)	V1156G	probably damaging	Het
Tpp1	T	C	7: 105,749,647 (GRCm38)	T192A	probably benign	Het
Ush1c	A	G	7: 46,209,901 (GRCm38)	L498P	probably damaging	Het
Vit	A	C	17: 78,622,836 (GRCm38)	Q410P	probably benign	Het
Vmn2r27	C	T	6: 124,231,634 (GRCm38)	G51S	probably benign	Het
Zfp341	A	G	2: 154,646,134 (GRCm38)	E839G	possibly damaging	Het
Zhx3	G	A	2: 160,780,355 (GRCm38)	L631F	probably benign	Het
Zmpste24	T	C	4: 121,087,316 (GRCm38)	E95G	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
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
R4816:Pkhd1	UTSW	1	20,199,415 (GRCm38)	missense	probably damaging	0.99
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'- GCTTGCATTGGTCAAGCATG -3'
(R):5'- CCTACAGAACAAACTGAACTGTGTC -3'

Sequencing Primer
(F):5'- TCAAGCATGTGTCTGAGAGG -3'
(R):5'- CAAACTGAACTGTGTCTGAGTATGCG -3'

Posted On

2014-06-23