Mutagenetix > Incidental Mutation

Incidental Mutation 'R8787:Pkhd1'

670676

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1

Ensembl Gene

ENSMUSG00000043760

Gene Name

polycystic kidney and hepatic disease 1

Synonyms

FPC, tigmin

MMRRC Submission

068633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R8787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20128003-20688288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20358461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2705 (V2705A)

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: V2705A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085794
Gene: ENSMUSG00000043760
AA Change: V2705A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,225,053 (GRCm39)	H511Y	possibly damaging	Het
Acp5	G	A	9: 22,038,489 (GRCm39)	R271*	probably null	Het
Adamts20	A	T	15: 94,184,294 (GRCm39)	V1503E	possibly damaging	Het
Adra2b	A	T	2: 127,206,417 (GRCm39)	E311D	probably benign	Het
Aldh18a1	T	C	19: 40,546,230 (GRCm39)	I556V	possibly damaging	Het
Alox12	C	A	11: 70,144,146 (GRCm39)	A116S	probably benign	Het
Alox5	G	T	6: 116,390,102 (GRCm39)	A552E	probably damaging	Het
Angpt1	G	T	15: 42,375,780 (GRCm39)	L159I	probably damaging	Het
Atp2b4	CTT	CTTTTT	1: 133,629,485 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,462,305 (GRCm39)	L726I	probably damaging	Het
Ccdc78	A	T	17: 26,006,807 (GRCm39)	T165S	probably benign	Het
Ccdc88b	T	C	19: 6,824,791 (GRCm39)	D1323G	probably damaging	Het
Chek1	A	T	9: 36,625,033 (GRCm39)	C349*	probably null	Het
Clec1a	A	T	6: 129,428,617 (GRCm39)	L21Q	possibly damaging	Het
Col1a1	T	C	11: 94,833,634 (GRCm39)	V445A	possibly damaging	Het
Efcab7	A	G	4: 99,757,791 (GRCm39)	T313A	probably null	Het
Fads1	T	A	19: 10,170,325 (GRCm39)	Y288*	probably null	Het
Fgb	T	A	3: 82,953,969 (GRCm39)	T90S	probably benign	Het
Glg1	C	A	8: 111,888,114 (GRCm39)	V1026L	probably damaging	Het
Hadh	T	A	3: 131,027,825 (GRCm39)	Y313F	probably damaging	Het
Htr4	A	G	18: 62,570,853 (GRCm39)	I303V	possibly damaging	Het
Kcnn3	A	G	3: 89,552,757 (GRCm39)	D487G	possibly damaging	Het
L1td1	G	A	4: 98,625,814 (GRCm39)	V604I	probably benign	Het
Lao1	A	G	4: 118,825,565 (GRCm39)	T462A	probably damaging	Het
Lefty1	C	A	1: 180,764,118 (GRCm39)	A86E	probably damaging	Het
Lmx1b	T	C	2: 33,529,522 (GRCm39)	Y79C		Het
Lrp2	A	G	2: 69,382,745 (GRCm39)	C47R	probably damaging	Het
Mrc2	A	T	11: 105,238,465 (GRCm39)	N1204I	probably benign	Het
Ncf1	A	C	5: 134,254,145 (GRCm39)	Y209*	probably null	Het
Or14j7	T	A	17: 38,235,075 (GRCm39)	M206K	probably benign	Het
Or2ad1	A	T	13: 21,326,453 (GRCm39)	M258K	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Oxtr	T	G	6: 112,466,871 (GRCm39)		probably benign	Het
Pcdhac1	T	C	18: 37,224,942 (GRCm39)	V585A	probably damaging	Het
Pdcd11	T	G	19: 47,097,019 (GRCm39)	L755R	probably damaging	Het
Plch2	C	A	4: 155,070,875 (GRCm39)	G1168V	probably benign	Het
Prpf39	T	C	12: 65,089,555 (GRCm39)	Y98H	possibly damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf10	T	A	7: 112,554,738 (GRCm39)	D446E	probably benign	Het
Rgs13	T	C	1: 144,016,482 (GRCm39)	Y87C	probably damaging	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Smpd3	G	A	8: 106,982,377 (GRCm39)	R576C	probably damaging	Het
Spata31e1	T	C	13: 49,938,704 (GRCm39)	Y1002C	probably damaging	Het
Srsf11	A	T	3: 157,718,037 (GRCm39)	D382E	unknown	Het
Stpg1	T	A	4: 135,261,108 (GRCm39)	M306K	probably benign	Het
Svil	C	T	18: 5,059,332 (GRCm39)	Q696*	probably null	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Synj2	T	C	17: 6,036,514 (GRCm39)	F161S	possibly damaging	Het
Tek	T	C	4: 94,738,037 (GRCm39)	Y696H	probably damaging	Het
Tgfbr1	A	T	4: 47,405,555 (GRCm39)	D386V	possibly damaging	Het
Tgm4	G	T	9: 122,890,910 (GRCm39)	G503V	probably damaging	Het
Tnni3k	T	C	3: 154,645,691 (GRCm39)	E461G	probably damaging	Het
Tom1l1	A	T	11: 90,561,931 (GRCm39)	H232Q	probably benign	Het
Ubqln5	T	C	7: 103,778,329 (GRCm39)	N165S	probably benign	Het
Vmn1r24	G	A	6: 57,932,958 (GRCm39)	L187F	probably benign	Het
Vmn2r82	C	T	10: 79,213,894 (GRCm39)	T160I	probably damaging	Het
Vmn2r96	G	T	17: 18,818,250 (GRCm39)	G801V	probably damaging	Het
Vps39	A	G	2: 120,172,506 (GRCm39)	S176P	probably damaging	Het
Vsig10	C	A	5: 117,472,981 (GRCm39)	H191Q	probably benign	Het
Wtap	G	A	17: 13,186,488 (GRCm39)	S353L	possibly damaging	Het
Zmym4	T	G	4: 126,816,953 (GRCm39)	R248S	probably benign	Het
Zscan10	A	G	17: 23,829,011 (GRCm39)	S518G	probably benign	Het
Zscan29	A	T	2: 120,996,876 (GRCm39)	Y282N	probably damaging	Het

Other mutations in Pkhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Pkhd1	APN	1	20,637,098 (GRCm39)	critical splice acceptor site	probably null
IGL00687:Pkhd1	APN	1	20,594,294 (GRCm39)	missense	probably benign	0.19
IGL00824:Pkhd1	APN	1	20,151,408 (GRCm39)	critical splice donor site	probably null
IGL00870:Pkhd1	APN	1	20,641,614 (GRCm39)	missense	probably damaging	1.00
IGL00911:Pkhd1	APN	1	20,187,971 (GRCm39)	missense	probably benign	0.00
IGL01015:Pkhd1	APN	1	20,593,482 (GRCm39)	missense	possibly damaging	0.95
IGL01025:Pkhd1	APN	1	20,279,400 (GRCm39)	missense	probably benign	0.04
IGL01064:Pkhd1	APN	1	20,604,754 (GRCm39)	splice site	probably benign
IGL01313:Pkhd1	APN	1	20,271,248 (GRCm39)	missense	probably damaging	1.00
IGL01340:Pkhd1	APN	1	20,593,201 (GRCm39)	missense	probably benign	0.01
IGL01352:Pkhd1	APN	1	20,619,939 (GRCm39)	missense	probably benign	0.34
IGL01456:Pkhd1	APN	1	20,269,683 (GRCm39)	missense	probably damaging	1.00
IGL01530:Pkhd1	APN	1	20,629,643 (GRCm39)	critical splice donor site	probably null
IGL01557:Pkhd1	APN	1	20,187,203 (GRCm39)	missense	possibly damaging	0.59
IGL01655:Pkhd1	APN	1	20,604,857 (GRCm39)	nonsense	probably null
IGL01790:Pkhd1	APN	1	20,628,895 (GRCm39)	missense	probably damaging	0.96
IGL01862:Pkhd1	APN	1	20,429,134 (GRCm39)	missense	probably damaging	1.00
IGL01874:Pkhd1	APN	1	20,173,459 (GRCm39)	missense	probably benign	0.32
IGL01901:Pkhd1	APN	1	20,290,307 (GRCm39)	missense	probably benign	0.11
IGL01903:Pkhd1	APN	1	20,268,361 (GRCm39)	missense	probably damaging	1.00
IGL01981:Pkhd1	APN	1	20,593,791 (GRCm39)	missense	possibly damaging	0.64
IGL02068:Pkhd1	APN	1	20,592,971 (GRCm39)	missense	probably damaging	1.00
IGL02083:Pkhd1	APN	1	20,271,451 (GRCm39)	missense	probably damaging	1.00
IGL02084:Pkhd1	APN	1	20,447,623 (GRCm39)	missense	probably damaging	1.00
IGL02126:Pkhd1	APN	1	20,187,419 (GRCm39)	missense	probably damaging	1.00
IGL02136:Pkhd1	APN	1	20,345,839 (GRCm39)	missense	probably damaging	1.00
IGL02255:Pkhd1	APN	1	20,654,325 (GRCm39)	missense	probably damaging	1.00
IGL02272:Pkhd1	APN	1	20,279,484 (GRCm39)	missense	probably damaging	1.00
IGL02308:Pkhd1	APN	1	20,140,600 (GRCm39)	critical splice donor site	probably null
IGL02364:Pkhd1	APN	1	20,271,007 (GRCm39)	missense	probably benign
IGL02389:Pkhd1	APN	1	20,187,944 (GRCm39)	missense	probably damaging	0.99
IGL02394:Pkhd1	APN	1	20,269,710 (GRCm39)	missense	possibly damaging	0.57
IGL02403:Pkhd1	APN	1	20,632,642 (GRCm39)	missense	probably benign	0.01
IGL02415:Pkhd1	APN	1	20,484,645 (GRCm39)	missense	probably damaging	1.00
IGL02415:Pkhd1	APN	1	20,592,983 (GRCm39)	missense	probably damaging	1.00
IGL02455:Pkhd1	APN	1	20,434,425 (GRCm39)	missense	probably damaging	1.00
IGL02502:Pkhd1	APN	1	20,462,389 (GRCm39)	missense	probably damaging	1.00
IGL02511:Pkhd1	APN	1	20,143,731 (GRCm39)	missense	possibly damaging	0.90
IGL02530:Pkhd1	APN	1	20,187,944 (GRCm39)	missense	probably damaging	0.99
IGL02532:Pkhd1	APN	1	20,187,944 (GRCm39)	missense	probably damaging	0.99
IGL02534:Pkhd1	APN	1	20,187,944 (GRCm39)	missense	probably damaging	0.99
IGL02556:Pkhd1	APN	1	20,380,934 (GRCm39)	missense	probably damaging	1.00
IGL02570:Pkhd1	APN	1	20,590,480 (GRCm39)	missense	probably damaging	0.99
IGL02605:Pkhd1	APN	1	20,621,126 (GRCm39)	missense	possibly damaging	0.66
IGL02641:Pkhd1	APN	1	20,628,976 (GRCm39)	missense	possibly damaging	0.61
IGL02741:Pkhd1	APN	1	20,290,253 (GRCm39)	splice site	probably benign
IGL02752:Pkhd1	APN	1	20,623,815 (GRCm39)	missense	possibly damaging	0.57
IGL02890:Pkhd1	APN	1	20,431,235 (GRCm39)	missense	probably damaging	1.00
IGL02959:Pkhd1	APN	1	20,678,640 (GRCm39)	nonsense	probably null
IGL02960:Pkhd1	APN	1	20,447,670 (GRCm39)	missense	possibly damaging	0.69
IGL02990:Pkhd1	APN	1	20,593,187 (GRCm39)	missense	possibly damaging	0.52
IGL03037:Pkhd1	APN	1	20,592,923 (GRCm39)	missense	probably benign	0.06
IGL03082:Pkhd1	APN	1	20,635,857 (GRCm39)	missense	probably damaging	1.00
IGL03114:Pkhd1	APN	1	20,268,395 (GRCm39)	missense	probably damaging	0.99
IGL03288:Pkhd1	APN	1	20,271,243 (GRCm39)	missense	probably benign	0.01
IGL03328:Pkhd1	APN	1	20,151,524 (GRCm39)	splice site	probably benign
IGL03375:Pkhd1	APN	1	20,187,247 (GRCm39)	missense	probably damaging	1.00
IGL03380:Pkhd1	APN	1	20,270,894 (GRCm39)	missense	probably damaging	1.00
0152:Pkhd1	UTSW	1	20,593,118 (GRCm39)	missense	possibly damaging	0.46
IGL03046:Pkhd1	UTSW	1	20,607,589 (GRCm39)	missense	possibly damaging	0.81
LCD18:Pkhd1	UTSW	1	20,681,638 (GRCm39)	intron	probably benign
P0035:Pkhd1	UTSW	1	20,187,571 (GRCm39)	missense	probably benign	0.00
PIT4260001:Pkhd1	UTSW	1	20,293,130 (GRCm39)	missense	possibly damaging	0.51
R0063:Pkhd1	UTSW	1	20,282,174 (GRCm39)	missense	probably benign	0.02
R0063:Pkhd1	UTSW	1	20,282,174 (GRCm39)	missense	probably benign	0.02
R0071:Pkhd1	UTSW	1	20,271,568 (GRCm39)	missense	probably benign	0.11
R0071:Pkhd1	UTSW	1	20,271,568 (GRCm39)	missense	probably benign	0.11
R0094:Pkhd1	UTSW	1	20,279,470 (GRCm39)	missense	probably damaging	1.00
R0094:Pkhd1	UTSW	1	20,279,470 (GRCm39)	missense	probably damaging	1.00
R0103:Pkhd1	UTSW	1	20,593,583 (GRCm39)	missense	probably benign	0.04
R0103:Pkhd1	UTSW	1	20,593,583 (GRCm39)	missense	probably benign	0.04
R0105:Pkhd1	UTSW	1	20,593,956 (GRCm39)	nonsense	probably null
R0105:Pkhd1	UTSW	1	20,593,956 (GRCm39)	nonsense	probably null
R0115:Pkhd1	UTSW	1	20,420,714 (GRCm39)	missense	probably damaging	1.00
R0193:Pkhd1	UTSW	1	20,429,141 (GRCm39)	missense	probably damaging	1.00
R0245:Pkhd1	UTSW	1	20,610,624 (GRCm39)	missense	probably benign	0.03
R0277:Pkhd1	UTSW	1	20,345,762 (GRCm39)	missense	probably benign	0.04
R0310:Pkhd1	UTSW	1	20,620,046 (GRCm39)	splice site	probably null
R0323:Pkhd1	UTSW	1	20,345,762 (GRCm39)	missense	probably benign	0.04
R0395:Pkhd1	UTSW	1	20,451,771 (GRCm39)	missense	probably benign	0.26
R0412:Pkhd1	UTSW	1	20,188,012 (GRCm39)	missense	probably damaging	1.00
R0506:Pkhd1	UTSW	1	20,629,693 (GRCm39)	missense	probably benign	0.00
R0512:Pkhd1	UTSW	1	20,380,738 (GRCm39)	splice site	probably benign
R0550:Pkhd1	UTSW	1	20,417,447 (GRCm39)	missense	probably null	1.00
R0584:Pkhd1	UTSW	1	20,309,660 (GRCm39)	nonsense	probably null
R0586:Pkhd1	UTSW	1	20,594,335 (GRCm39)	missense	probably benign	0.04
R0598:Pkhd1	UTSW	1	20,271,114 (GRCm39)	missense	probably damaging	1.00
R0603:Pkhd1	UTSW	1	20,187,397 (GRCm39)	missense	probably benign	0.05
R0634:Pkhd1	UTSW	1	20,187,698 (GRCm39)	missense	probably damaging	1.00
R0677:Pkhd1	UTSW	1	20,594,454 (GRCm39)	missense	probably benign	0.01
R0746:Pkhd1	UTSW	1	20,268,331 (GRCm39)	missense	probably damaging	1.00
R0781:Pkhd1	UTSW	1	20,187,708 (GRCm39)	missense	probably benign	0.01
R0840:Pkhd1	UTSW	1	20,420,745 (GRCm39)	missense	probably damaging	0.98
R0946:Pkhd1	UTSW	1	20,269,605 (GRCm39)	missense	probably benign	0.10
R1018:Pkhd1	UTSW	1	20,271,483 (GRCm39)	missense	possibly damaging	0.89
R1028:Pkhd1	UTSW	1	20,187,950 (GRCm39)	missense	probably damaging	1.00
R1136:Pkhd1	UTSW	1	20,593,053 (GRCm39)	missense	possibly damaging	0.68
R1178:Pkhd1	UTSW	1	20,655,381 (GRCm39)	critical splice donor site	probably null
R1180:Pkhd1	UTSW	1	20,655,381 (GRCm39)	critical splice donor site	probably null
R1222:Pkhd1	UTSW	1	20,637,680 (GRCm39)	missense	probably benign	0.07
R1334:Pkhd1	UTSW	1	20,604,129 (GRCm39)	missense	possibly damaging	0.81
R1335:Pkhd1	UTSW	1	20,641,629 (GRCm39)	missense	probably damaging	1.00
R1387:Pkhd1	UTSW	1	20,625,447 (GRCm39)	splice site	probably benign
R1411:Pkhd1	UTSW	1	20,444,120 (GRCm39)	missense	probably damaging	1.00
R1443:Pkhd1	UTSW	1	20,604,782 (GRCm39)	missense	probably damaging	1.00
R1448:Pkhd1	UTSW	1	20,655,381 (GRCm39)	critical splice donor site	probably null
R1468:Pkhd1	UTSW	1	20,593,565 (GRCm39)	missense	probably damaging	1.00
R1468:Pkhd1	UTSW	1	20,593,565 (GRCm39)	missense	probably damaging	1.00
R1473:Pkhd1	UTSW	1	20,593,207 (GRCm39)	missense	probably benign	0.00
R1524:Pkhd1	UTSW	1	20,188,004 (GRCm39)	missense	probably damaging	1.00
R1532:Pkhd1	UTSW	1	20,187,625 (GRCm39)	missense	probably benign	0.08
R1565:Pkhd1	UTSW	1	20,417,681 (GRCm39)	missense	probably damaging	1.00
R1572:Pkhd1	UTSW	1	20,417,664 (GRCm39)	missense	probably benign	0.02
R1583:Pkhd1	UTSW	1	20,188,049 (GRCm39)	missense	probably benign
R1617:Pkhd1	UTSW	1	20,268,274 (GRCm39)	missense	possibly damaging	0.95
R1631:Pkhd1	UTSW	1	20,593,121 (GRCm39)	missense	probably benign	0.06
R1655:Pkhd1	UTSW	1	20,654,353 (GRCm39)	missense	probably damaging	1.00
R1707:Pkhd1	UTSW	1	20,621,064 (GRCm39)	splice site	probably benign
R1753:Pkhd1	UTSW	1	20,604,129 (GRCm39)	missense	possibly damaging	0.81
R1782:Pkhd1	UTSW	1	20,635,935 (GRCm39)	missense	probably damaging	0.98
R1791:Pkhd1	UTSW	1	20,655,376 (GRCm39)	splice site	probably benign
R1822:Pkhd1	UTSW	1	20,417,681 (GRCm39)	missense	probably damaging	1.00
R1823:Pkhd1	UTSW	1	20,417,681 (GRCm39)	missense	probably damaging	1.00
R1824:Pkhd1	UTSW	1	20,417,681 (GRCm39)	missense	probably damaging	1.00
R1836:Pkhd1	UTSW	1	20,187,293 (GRCm39)	missense	probably benign	0.01
R1862:Pkhd1	UTSW	1	20,621,244 (GRCm39)	missense	probably benign	0.00
R1863:Pkhd1	UTSW	1	20,621,244 (GRCm39)	missense	probably benign	0.00
R1869:Pkhd1	UTSW	1	20,685,491 (GRCm39)	critical splice donor site	probably null
R1913:Pkhd1	UTSW	1	20,636,980 (GRCm39)	critical splice donor site	probably null
R1928:Pkhd1	UTSW	1	20,151,524 (GRCm39)	splice site	probably benign
R1969:Pkhd1	UTSW	1	20,451,747 (GRCm39)	missense	probably damaging	1.00
R1970:Pkhd1	UTSW	1	20,451,747 (GRCm39)	missense	probably damaging	1.00
R1981:Pkhd1	UTSW	1	20,187,284 (GRCm39)	missense	probably benign	0.00
R2008:Pkhd1	UTSW	1	20,269,683 (GRCm39)	missense	probably damaging	0.99
R2034:Pkhd1	UTSW	1	20,270,893 (GRCm39)	missense	probably damaging	1.00
R2061:Pkhd1	UTSW	1	20,683,036 (GRCm39)	missense	possibly damaging	0.76
R2062:Pkhd1	UTSW	1	20,271,559 (GRCm39)	missense	probably damaging	0.97
R2108:Pkhd1	UTSW	1	20,623,798 (GRCm39)	nonsense	probably null
R2142:Pkhd1	UTSW	1	20,594,119 (GRCm39)	missense	probably benign	0.00
R2148:Pkhd1	UTSW	1	20,484,444 (GRCm39)	critical splice donor site	probably null
R2176:Pkhd1	UTSW	1	20,623,741 (GRCm39)	missense	probably damaging	1.00
R2202:Pkhd1	UTSW	1	20,607,584 (GRCm39)	missense	probably benign	0.06
R2255:Pkhd1	UTSW	1	20,635,863 (GRCm39)	missense	probably benign	0.23
R2269:Pkhd1	UTSW	1	20,604,759 (GRCm39)	critical splice donor site	probably null
R2275:Pkhd1	UTSW	1	20,271,073 (GRCm39)	missense	possibly damaging	0.95
R2340:Pkhd1	UTSW	1	20,271,079 (GRCm39)	missense	probably damaging	1.00
R2431:Pkhd1	UTSW	1	20,271,389 (GRCm39)	missense	possibly damaging	0.63
R2679:Pkhd1	UTSW	1	20,279,406 (GRCm39)	missense	probably benign	0.03
R2850:Pkhd1	UTSW	1	20,579,300 (GRCm39)	missense	possibly damaging	0.89
R2851:Pkhd1	UTSW	1	20,128,526 (GRCm39)	missense	probably benign	0.16
R2853:Pkhd1	UTSW	1	20,128,526 (GRCm39)	missense	probably benign	0.16
R2984:Pkhd1	UTSW	1	20,293,185 (GRCm39)	missense	possibly damaging	0.84
R2987:Pkhd1	UTSW	1	20,174,823 (GRCm39)	missense	possibly damaging	0.87
R3692:Pkhd1	UTSW	1	20,625,353 (GRCm39)	missense	possibly damaging	0.87
R3721:Pkhd1	UTSW	1	20,655,879 (GRCm39)	missense	probably benign	0.08
R3746:Pkhd1	UTSW	1	20,128,524 (GRCm39)	makesense	probably null
R3838:Pkhd1	UTSW	1	20,604,853 (GRCm39)	missense	possibly damaging	0.66
R3843:Pkhd1	UTSW	1	20,628,947 (GRCm39)	missense	probably benign	0.00
R3861:Pkhd1	UTSW	1	20,271,151 (GRCm39)	missense	probably damaging	1.00
R3893:Pkhd1	UTSW	1	20,382,362 (GRCm39)	nonsense	probably null
R3926:Pkhd1	UTSW	1	20,621,097 (GRCm39)	missense	probably benign	0.00
R4183:Pkhd1	UTSW	1	20,188,031 (GRCm39)	missense	probably benign	0.03
R4184:Pkhd1	UTSW	1	20,633,910 (GRCm39)	missense	probably benign	0.06
R4184:Pkhd1	UTSW	1	20,279,501 (GRCm39)	missense	probably benign	0.03
R4255:Pkhd1	UTSW	1	20,664,158 (GRCm39)	missense	probably damaging	0.99
R4275:Pkhd1	UTSW	1	20,128,608 (GRCm39)	missense	probably benign	0.00
R4342:Pkhd1	UTSW	1	20,128,841 (GRCm39)	missense	probably benign	0.00
R4386:Pkhd1	UTSW	1	20,484,516 (GRCm39)	missense	probably benign	0.00
R4402:Pkhd1	UTSW	1	20,309,635 (GRCm39)	missense	probably damaging	1.00
R4431:Pkhd1	UTSW	1	20,593,538 (GRCm39)	missense	probably damaging	0.99
R4560:Pkhd1	UTSW	1	20,282,082 (GRCm39)	missense	probably damaging	1.00
R4561:Pkhd1	UTSW	1	20,604,943 (GRCm39)	missense	possibly damaging	0.89
R4570:Pkhd1	UTSW	1	20,451,747 (GRCm39)	missense	probably damaging	1.00
R4571:Pkhd1	UTSW	1	20,683,633 (GRCm39)	missense	probably damaging	1.00
R4588:Pkhd1	UTSW	1	20,271,092 (GRCm39)	missense	probably benign	0.00
R4598:Pkhd1	UTSW	1	20,573,280 (GRCm39)	missense	probably damaging	1.00
R4651:Pkhd1	UTSW	1	20,451,747 (GRCm39)	missense	probably damaging	1.00
R4657:Pkhd1	UTSW	1	20,434,391 (GRCm39)	missense	possibly damaging	0.89
R4718:Pkhd1	UTSW	1	20,151,452 (GRCm39)	missense	probably damaging	1.00
R4740:Pkhd1	UTSW	1	20,594,354 (GRCm39)	missense	probably benign
R4750:Pkhd1	UTSW	1	20,594,336 (GRCm39)	missense	possibly damaging	0.57
R4816:Pkhd1	UTSW	1	20,269,639 (GRCm39)	missense	probably damaging	0.99
R4825:Pkhd1	UTSW	1	20,607,625 (GRCm39)	missense	probably damaging	0.96
R4885:Pkhd1	UTSW	1	20,140,712 (GRCm39)	missense	possibly damaging	0.55
R4907:Pkhd1	UTSW	1	20,279,450 (GRCm39)	missense	probably damaging	1.00
R4944:Pkhd1	UTSW	1	20,358,429 (GRCm39)	missense	probably null	0.01
R5062:Pkhd1	UTSW	1	20,655,935 (GRCm39)	missense	probably benign	0.00
R5090:Pkhd1	UTSW	1	20,270,981 (GRCm39)	missense	probably damaging	1.00
R5104:Pkhd1	UTSW	1	20,655,415 (GRCm39)	missense	probably damaging	1.00
R5187:Pkhd1	UTSW	1	20,279,448 (GRCm39)	missense	possibly damaging	0.67
R5202:Pkhd1	UTSW	1	20,617,565 (GRCm39)	missense	probably benign	0.01
R5240:Pkhd1	UTSW	1	20,345,865 (GRCm39)	missense	probably benign	0.04
R5248:Pkhd1	UTSW	1	20,604,769 (GRCm39)	missense	probably benign	0.00
R5252:Pkhd1	UTSW	1	20,420,635 (GRCm39)	critical splice donor site	probably null
R5293:Pkhd1	UTSW	1	20,579,300 (GRCm39)	missense	possibly damaging	0.89
R5311:Pkhd1	UTSW	1	20,636,094 (GRCm39)	missense	possibly damaging	0.94
R5317:Pkhd1	UTSW	1	20,520,528 (GRCm39)	missense	probably damaging	1.00
R5346:Pkhd1	UTSW	1	20,593,658 (GRCm39)	missense	probably damaging	0.96
R5346:Pkhd1	UTSW	1	20,462,321 (GRCm39)	missense	probably benign
R5431:Pkhd1	UTSW	1	20,188,060 (GRCm39)	missense	probably benign	0.25
R5447:Pkhd1	UTSW	1	20,309,609 (GRCm39)	missense	probably benign	0.00
R5478:Pkhd1	UTSW	1	20,271,380 (GRCm39)	missense	probably damaging	1.00
R5497:Pkhd1	UTSW	1	20,447,628 (GRCm39)	missense	possibly damaging	0.94
R5554:Pkhd1	UTSW	1	20,151,476 (GRCm39)	missense	probably damaging	0.99
R5579:Pkhd1	UTSW	1	20,593,366 (GRCm39)	missense	probably damaging	0.96
R5614:Pkhd1	UTSW	1	20,143,750 (GRCm39)	missense	possibly damaging	0.83
R5648:Pkhd1	UTSW	1	20,628,850 (GRCm39)	missense	probably benign	0.04
R5651:Pkhd1	UTSW	1	20,188,031 (GRCm39)	missense	probably benign	0.03
R5665:Pkhd1	UTSW	1	20,658,755 (GRCm39)	missense	probably damaging	1.00
R5681:Pkhd1	UTSW	1	20,617,685 (GRCm39)	missense	possibly damaging	0.61
R5754:Pkhd1	UTSW	1	20,593,875 (GRCm39)	nonsense	probably null
R5760:Pkhd1	UTSW	1	20,143,778 (GRCm39)	missense	probably benign	0.02
R5776:Pkhd1	UTSW	1	20,279,409 (GRCm39)	missense	possibly damaging	0.62
R5782:Pkhd1	UTSW	1	20,128,824 (GRCm39)	missense	probably benign
R5810:Pkhd1	UTSW	1	20,270,897 (GRCm39)	missense	probably benign	0.26
R5814:Pkhd1	UTSW	1	20,269,629 (GRCm39)	missense	probably damaging	1.00
R5816:Pkhd1	UTSW	1	20,128,902 (GRCm39)	missense	probably benign	0.03
R5835:Pkhd1	UTSW	1	20,271,307 (GRCm39)	missense	probably benign	0.01
R5844:Pkhd1	UTSW	1	20,451,685 (GRCm39)	missense	probably benign	0.00
R5847:Pkhd1	UTSW	1	20,444,960 (GRCm39)	nonsense	probably null
R5852:Pkhd1	UTSW	1	20,447,632 (GRCm39)	missense	probably benign	0.22
R5863:Pkhd1	UTSW	1	20,590,434 (GRCm39)	missense	possibly damaging	0.63
R6213:Pkhd1	UTSW	1	20,593,994 (GRCm39)	missense	possibly damaging	0.80
R6351:Pkhd1	UTSW	1	20,282,175 (GRCm39)	missense	probably benign	0.00
R6386:Pkhd1	UTSW	1	20,621,244 (GRCm39)	missense	probably damaging	0.96
R6542:Pkhd1	UTSW	1	20,655,927 (GRCm39)	missense	probably benign	0.02
R6579:Pkhd1	UTSW	1	20,271,047 (GRCm39)	missense	probably benign	0.01
R6658:Pkhd1	UTSW	1	20,682,929 (GRCm39)	missense	probably damaging	1.00
R6765:Pkhd1	UTSW	1	20,128,563 (GRCm39)	missense	probably benign
R6886:Pkhd1	UTSW	1	20,417,504 (GRCm39)	missense	probably benign	0.01
R6892:Pkhd1	UTSW	1	20,593,739 (GRCm39)	missense	probably damaging	1.00
R6900:Pkhd1	UTSW	1	20,604,925 (GRCm39)	missense	probably benign	0.06
R6932:Pkhd1	UTSW	1	20,632,675 (GRCm39)	missense	probably benign	0.19
R7191:Pkhd1	UTSW	1	20,628,943 (GRCm39)	missense	probably benign	0.00
R7220:Pkhd1	UTSW	1	20,593,350 (GRCm39)	missense	possibly damaging	0.89
R7329:Pkhd1	UTSW	1	20,617,743 (GRCm39)	missense	probably damaging	0.96
R7361:Pkhd1	UTSW	1	20,664,177 (GRCm39)	missense	probably damaging	1.00
R7381:Pkhd1	UTSW	1	20,271,197 (GRCm39)	missense	probably damaging	1.00
R7388:Pkhd1	UTSW	1	20,309,528 (GRCm39)	missense	not run
R7436:Pkhd1	UTSW	1	20,270,925 (GRCm39)	missense	probably benign
R7473:Pkhd1	UTSW	1	20,619,980 (GRCm39)	missense	probably damaging	0.99
R7578:Pkhd1	UTSW	1	20,417,585 (GRCm39)	missense	probably damaging	1.00
R7751:Pkhd1	UTSW	1	20,271,149 (GRCm39)	missense	probably damaging	1.00
R7755:Pkhd1	UTSW	1	20,617,717 (GRCm39)	missense	probably damaging	0.98
R7757:Pkhd1	UTSW	1	20,632,639 (GRCm39)	missense	probably damaging	1.00
R7832:Pkhd1	UTSW	1	20,573,223 (GRCm39)	missense	probably damaging	1.00
R7834:Pkhd1	UTSW	1	20,382,273 (GRCm39)	missense	probably benign
R7920:Pkhd1	UTSW	1	20,345,759 (GRCm39)	missense	probably damaging	1.00
R8014:Pkhd1	UTSW	1	20,579,115 (GRCm39)	critical splice donor site	probably null
R8034:Pkhd1	UTSW	1	20,451,662 (GRCm39)	missense	possibly damaging	0.94
R8085:Pkhd1	UTSW	1	20,683,639 (GRCm39)	missense	probably damaging	1.00
R8087:Pkhd1	UTSW	1	20,593,313 (GRCm39)	missense	probably damaging	1.00
R8103:Pkhd1	UTSW	1	20,270,981 (GRCm39)	missense	probably damaging	1.00
R8122:Pkhd1	UTSW	1	20,632,682 (GRCm39)	missense	probably damaging	1.00
R8273:Pkhd1	UTSW	1	20,607,644 (GRCm39)	splice site	probably benign
R8485:Pkhd1	UTSW	1	20,593,257 (GRCm39)	missense	probably damaging	1.00
R8504:Pkhd1	UTSW	1	20,590,432 (GRCm39)	missense	probably benign	0.10
R8544:Pkhd1	UTSW	1	20,593,199 (GRCm39)	missense	probably damaging	1.00
R8692:Pkhd1	UTSW	1	20,462,374 (GRCm39)	missense	probably damaging	1.00
R8853:Pkhd1	UTSW	1	20,143,679 (GRCm39)	critical splice donor site	probably null
R8907:Pkhd1	UTSW	1	20,187,785 (GRCm39)	missense	possibly damaging	0.88
R8934:Pkhd1	UTSW	1	20,462,234 (GRCm39)	critical splice donor site	probably null
R8990:Pkhd1	UTSW	1	20,417,529 (GRCm39)	missense	probably benign	0.00
R8998:Pkhd1	UTSW	1	20,434,425 (GRCm39)	missense	probably damaging	1.00
R9024:Pkhd1	UTSW	1	20,592,975 (GRCm39)	missense	probably benign	0.24
R9035:Pkhd1	UTSW	1	20,573,176 (GRCm39)	missense	probably damaging	1.00
R9092:Pkhd1	UTSW	1	20,632,586 (GRCm39)	missense	probably benign	0.00
R9238:Pkhd1	UTSW	1	20,604,799 (GRCm39)	missense	possibly damaging	0.89
R9258:Pkhd1	UTSW	1	20,444,174 (GRCm39)	missense	probably damaging	0.99
R9262:Pkhd1	UTSW	1	20,618,351 (GRCm39)	missense	probably benign	0.01
R9297:Pkhd1	UTSW	1	20,293,118 (GRCm39)	missense	probably benign	0.06
R9452:Pkhd1	UTSW	1	20,682,953 (GRCm39)	missense	possibly damaging	0.77
R9515:Pkhd1	UTSW	1	20,637,741 (GRCm39)	missense	probably damaging	1.00
R9540:Pkhd1	UTSW	1	20,269,570 (GRCm39)	missense	probably benign	0.00
R9542:Pkhd1	UTSW	1	20,188,004 (GRCm39)	missense	probably damaging	1.00
R9629:Pkhd1	UTSW	1	20,462,437 (GRCm39)	missense	possibly damaging	0.63
R9644:Pkhd1	UTSW	1	20,617,690 (GRCm39)	missense	probably benign	0.04
R9739:Pkhd1	UTSW	1	20,420,708 (GRCm39)	missense	probably damaging	1.00
R9767:Pkhd1	UTSW	1	20,484,636 (GRCm39)	missense	probably benign
R9781:Pkhd1	UTSW	1	20,187,665 (GRCm39)	missense	possibly damaging	0.95
R9803:Pkhd1	UTSW	1	20,637,073 (GRCm39)	missense	probably damaging	1.00
X0012:Pkhd1	UTSW	1	20,444,150 (GRCm39)	missense	probably damaging	1.00
X0067:Pkhd1	UTSW	1	20,590,450 (GRCm39)	missense	probably damaging	1.00
Z1176:Pkhd1	UTSW	1	20,593,971 (GRCm39)	missense	possibly damaging	0.81
Z1177:Pkhd1	UTSW	1	20,593,845 (GRCm39)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,380,818 (GRCm39)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,188,107 (GRCm39)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,621,243 (GRCm39)	missense	probably benign
Z1177:Pkhd1	UTSW	1	20,594,162 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTGTCAGGTGCAAAAGC -3'
(R):5'- ATGTGAACCTCTCTGCAATTACGTG -3'

Sequencing Primer
(F):5'- CTGTCAGGTGCAAAAGCAGGAG -3'
(R):5'- CCATCATTCTTGCCTGTATG -3'

Posted On

2021-04-30