Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Pkdrej'

167884

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

039557-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85698877-85705934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85700963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1658 (S1658A)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064370]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064370
AA Change: S1658A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: S1658A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:REJ	130	598	6.2e-116	PFAM
coiled coil region	657	687	N/A	INTRINSIC
low complexity region	942	947	N/A	INTRINSIC
GPS	984	1050	1.37e-2	SMART
transmembrane domain	1067	1089	N/A	INTRINSIC
LH2	1114	1230	3.35e-6	SMART
transmembrane domain	1274	1292	N/A	INTRINSIC
transmembrane domain	1312	1334	N/A	INTRINSIC
low complexity region	1407	1415	N/A	INTRINSIC
transmembrane domain	1451	1473	N/A	INTRINSIC
transmembrane domain	1483	1505	N/A	INTRINSIC
low complexity region	1571	1579	N/A	INTRINSIC
transmembrane domain	1581	1603	N/A	INTRINSIC
Pfam:PKD_channel	1621	2051	5.2e-154	PFAM

Meta Mutation Damage Score

0.2872

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null males are fertile in unrestricted mating trials but show lower reproductive success in sequential mating and artificial insemination trials. Although mutant sperm are able to capacitate in vitro, they acquire exocytotic competence at a slower rate than wild-type sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,073,181 (GRCm39)	L326S	probably damaging	Het
Adam18	T	A	8: 25,115,847 (GRCm39)	T616S	probably benign	Het
Adam22	T	C	5: 8,202,408 (GRCm39)	K215E	probably benign	Het
Ahi1	T	G	10: 20,835,699 (GRCm39)	S11A	probably benign	Het
Asb18	T	C	1: 89,923,976 (GRCm39)	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,752,553 (GRCm39)	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,722 (GRCm39)	E176G	probably benign	Het
Cd151	T	A	7: 141,050,280 (GRCm39)	S172T	probably benign	Het
Cdh2	G	T	18: 16,781,651 (GRCm39)	L90I	probably benign	Het
Cdkl3	T	C	11: 51,924,341 (GRCm39)	V55A	possibly damaging	Het
Cfap90	T	A	13: 68,745,596 (GRCm39)	M1K	probably null	Het
Chst8	T	A	7: 34,374,693 (GRCm39)	H382L	probably benign	Het
Cyb5r4	T	C	9: 86,948,696 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,950,209 (GRCm39)	D264G	possibly damaging	Het
Daam1	A	G	12: 72,024,500 (GRCm39)	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,742,285 (GRCm39)	I150T	probably damaging	Het
Dync1li1	T	G	9: 114,518,278 (GRCm39)	S50A	possibly damaging	Het
Fat3	A	T	9: 15,871,351 (GRCm39)	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Gm21286	T	G	4: 60,794,931 (GRCm39)		noncoding transcript	Het
Il6	T	C	5: 30,223,060 (GRCm39)	Y126H	probably damaging	Het
Inhba	G	T	13: 16,201,607 (GRCm39)	V390L	probably damaging	Het
Ino80	C	T	2: 119,280,530 (GRCm39)	R278H	probably damaging	Het
Jade3	T	G	X: 20,384,057 (GRCm39)	N799K	probably benign	Het
Kcnn1	G	A	8: 71,316,714 (GRCm39)		probably benign	Het
Klhl6	T	C	16: 19,765,848 (GRCm39)	T585A	probably damaging	Het
Kmt2d	T	A	15: 98,754,258 (GRCm39)		probably benign	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,563,283 (GRCm39)	R83S	unknown	Het
Lck	T	C	4: 129,449,461 (GRCm39)	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,798,915 (GRCm39)	S544P	probably benign	Het
Lypd6b	T	A	2: 49,824,831 (GRCm39)	S4R	probably damaging	Het
Macf1	T	C	4: 123,328,555 (GRCm39)	D4724G	probably null	Het
Mcoln2	A	G	3: 145,882,365 (GRCm39)	T255A	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Mki67	C	A	7: 135,297,900 (GRCm39)	R2378L	probably benign	Het
Mxd1	A	G	6: 86,630,137 (GRCm39)	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,078,833 (GRCm39)	Y864H	probably benign	Het
Ndel1	A	T	11: 68,713,482 (GRCm39)	N318K	possibly damaging	Het
Oasl1	A	G	5: 115,066,167 (GRCm39)	Q95R	probably benign	Het
Or5ac16	A	T	16: 59,022,546 (GRCm39)	M81K	probably damaging	Het
Or5j3	T	C	2: 86,128,715 (GRCm39)	L185P	probably damaging	Het
Or5p57	T	C	7: 107,665,735 (GRCm39)	Y60C	probably damaging	Het
Or6b2b	A	T	1: 92,419,339 (GRCm39)	I46N	probably damaging	Het
Parp10	T	A	15: 76,125,617 (GRCm39)	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,333,838 (GRCm39)	R51C	probably damaging	Het
Pdpr	A	T	8: 111,851,107 (GRCm39)		probably benign	Het
Pfpl	A	T	19: 12,407,060 (GRCm39)	D437V	probably benign	Het
Pik3c2a	G	A	7: 115,987,280 (GRCm39)	T547I	probably benign	Het
Pkn3	T	C	2: 29,969,776 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,867,004 (GRCm39)		probably null	Het
Plxdc1	A	T	11: 97,823,150 (GRCm39)	C357S	probably damaging	Het
Pnp	A	G	14: 51,188,042 (GRCm39)	T132A	possibly damaging	Het
Prorp	A	T	12: 55,350,997 (GRCm39)	Q102L	probably benign	Het
Rcan2	A	G	17: 44,147,315 (GRCm39)	D51G	probably damaging	Het
Rcn1	T	C	2: 105,219,434 (GRCm39)	N253S	probably damaging	Het
Rreb1	T	A	13: 38,115,860 (GRCm39)	I1073N	probably benign	Het
Scaf4	G	T	16: 90,042,282 (GRCm39)	D686E	unknown	Het
Sfxn5	A	C	6: 85,213,907 (GRCm39)	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,507,741 (GRCm39)	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,955,547 (GRCm39)	V497D	probably damaging	Het
Spryd3	C	A	15: 102,027,396 (GRCm39)	G290C	probably damaging	Het
Stc2	A	T	11: 31,315,418 (GRCm39)	Y140*	probably null	Het
Stfa2	A	T	16: 36,228,673 (GRCm39)	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,658,026 (GRCm39)	M29K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Triobp	G	A	15: 78,887,967 (GRCm39)	R1908Q	probably damaging	Het
Trpm2	T	A	10: 77,802,828 (GRCm39)	R7*	probably null	Het
Ttn	T	C	2: 76,782,501 (GRCm39)	I912V	probably benign	Het
Tusc2	T	A	9: 107,442,080 (GRCm39)	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,016,461 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,178,203 (GRCm39)	V60M	probably damaging	Het
Ush2a	A	T	1: 188,380,501 (GRCm39)	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,005,553 (GRCm39)	T397A	possibly damaging	Het
Wbp2	A	G	11: 115,977,708 (GRCm39)	V15A	probably benign	Het
Zfp182	T	A	X: 20,896,446 (GRCm39)	R617W	probably damaging	Het
Zfp82	C	A	7: 29,756,047 (GRCm39)	R345L	probably damaging	Het
Zfp85	T	C	13: 67,903,084 (GRCm39)		probably benign	Het

Other mutations in Pkdrej

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Pkdrej	APN	15	85,701,427 (GRCm39)	missense	probably damaging	1.00
IGL00981:Pkdrej	APN	15	85,703,857 (GRCm39)	missense	probably damaging	1.00
IGL01066:Pkdrej	APN	15	85,700,360 (GRCm39)	missense	probably benign	0.22
IGL01461:Pkdrej	APN	15	85,704,575 (GRCm39)	missense	possibly damaging	0.77
IGL01514:Pkdrej	APN	15	85,702,264 (GRCm39)	missense	possibly damaging	0.82
IGL01606:Pkdrej	APN	15	85,701,901 (GRCm39)	missense	possibly damaging	0.67
IGL01836:Pkdrej	APN	15	85,705,159 (GRCm39)	missense	probably damaging	1.00
IGL02089:Pkdrej	APN	15	85,700,489 (GRCm39)	missense	possibly damaging	0.87
IGL02197:Pkdrej	APN	15	85,699,994 (GRCm39)	missense	possibly damaging	0.89
IGL02331:Pkdrej	APN	15	85,705,528 (GRCm39)	missense	probably damaging	1.00
IGL02559:Pkdrej	APN	15	85,702,049 (GRCm39)	missense	probably benign
IGL02708:Pkdrej	APN	15	85,704,988 (GRCm39)	missense	probably damaging	1.00
IGL02739:Pkdrej	APN	15	85,703,895 (GRCm39)	missense	probably benign	0.41
IGL02741:Pkdrej	APN	15	85,701,631 (GRCm39)	missense	probably benign	0.04
IGL02882:Pkdrej	APN	15	85,701,497 (GRCm39)	missense	probably damaging	1.00
IGL02968:Pkdrej	APN	15	85,700,382 (GRCm39)	nonsense	probably null
IGL03250:Pkdrej	APN	15	85,705,556 (GRCm39)	missense	possibly damaging	0.92
FR4548:Pkdrej	UTSW	15	85,703,881 (GRCm39)	small insertion	probably benign
FR4737:Pkdrej	UTSW	15	85,703,881 (GRCm39)	small insertion	probably benign
PIT1430001:Pkdrej	UTSW	15	85,705,493 (GRCm39)	missense	probably damaging	0.99
PIT4280001:Pkdrej	UTSW	15	85,704,136 (GRCm39)	missense	probably benign	0.01
R0004:Pkdrej	UTSW	15	85,702,384 (GRCm39)	missense	probably damaging	1.00
R0116:Pkdrej	UTSW	15	85,701,746 (GRCm39)	nonsense	probably null
R0117:Pkdrej	UTSW	15	85,700,300 (GRCm39)	splice site	probably null
R0137:Pkdrej	UTSW	15	85,705,768 (GRCm39)	missense	possibly damaging	0.95
R0141:Pkdrej	UTSW	15	85,699,831 (GRCm39)	missense	probably damaging	0.99
R0325:Pkdrej	UTSW	15	85,703,752 (GRCm39)	missense	probably benign	0.08
R0714:Pkdrej	UTSW	15	85,699,712 (GRCm39)	missense	possibly damaging	0.85
R0749:Pkdrej	UTSW	15	85,702,275 (GRCm39)	missense	probably benign	0.43
R0750:Pkdrej	UTSW	15	85,702,275 (GRCm39)	missense	probably benign	0.43
R0755:Pkdrej	UTSW	15	85,700,336 (GRCm39)	missense	probably benign	0.00
R0938:Pkdrej	UTSW	15	85,702,364 (GRCm39)	missense	probably damaging	1.00
R1126:Pkdrej	UTSW	15	85,700,515 (GRCm39)	missense	probably damaging	0.99
R1204:Pkdrej	UTSW	15	85,702,513 (GRCm39)	missense	probably damaging	1.00
R1353:Pkdrej	UTSW	15	85,703,119 (GRCm39)	missense	probably damaging	1.00
R1471:Pkdrej	UTSW	15	85,701,334 (GRCm39)	missense	probably benign	0.37
R1573:Pkdrej	UTSW	15	85,702,275 (GRCm39)	missense	probably benign	0.43
R1588:Pkdrej	UTSW	15	85,701,442 (GRCm39)	missense	probably benign	0.44
R1739:Pkdrej	UTSW	15	85,704,628 (GRCm39)	missense	probably benign	0.03
R1779:Pkdrej	UTSW	15	85,705,372 (GRCm39)	missense	possibly damaging	0.83
R1781:Pkdrej	UTSW	15	85,705,372 (GRCm39)	missense	possibly damaging	0.83
R1828:Pkdrej	UTSW	15	85,703,483 (GRCm39)	missense	possibly damaging	0.48
R1865:Pkdrej	UTSW	15	85,704,525 (GRCm39)	nonsense	probably null
R1870:Pkdrej	UTSW	15	85,700,632 (GRCm39)	missense	probably damaging	1.00
R1937:Pkdrej	UTSW	15	85,703,368 (GRCm39)	missense	probably benign	0.00
R2069:Pkdrej	UTSW	15	85,705,432 (GRCm39)	missense	probably benign	0.01
R2113:Pkdrej	UTSW	15	85,703,185 (GRCm39)	missense	probably damaging	1.00
R2135:Pkdrej	UTSW	15	85,700,707 (GRCm39)	missense	probably damaging	1.00
R2428:Pkdrej	UTSW	15	85,701,773 (GRCm39)	nonsense	probably null
R2991:Pkdrej	UTSW	15	85,704,137 (GRCm39)	missense	probably benign	0.00
R3029:Pkdrej	UTSW	15	85,701,205 (GRCm39)	missense	probably benign	0.16
R3162:Pkdrej	UTSW	15	85,700,818 (GRCm39)	missense	probably damaging	1.00
R3162:Pkdrej	UTSW	15	85,700,818 (GRCm39)	missense	probably damaging	1.00
R3747:Pkdrej	UTSW	15	85,705,278 (GRCm39)	missense	probably damaging	0.96
R3748:Pkdrej	UTSW	15	85,705,278 (GRCm39)	missense	probably damaging	0.96
R3749:Pkdrej	UTSW	15	85,705,278 (GRCm39)	missense	probably damaging	0.96
R4028:Pkdrej	UTSW	15	85,701,693 (GRCm39)	missense	probably benign	0.02
R4169:Pkdrej	UTSW	15	85,700,515 (GRCm39)	missense	probably benign	0.24
R4241:Pkdrej	UTSW	15	85,702,345 (GRCm39)	missense	probably damaging	1.00
R4242:Pkdrej	UTSW	15	85,702,345 (GRCm39)	missense	probably damaging	1.00
R4705:Pkdrej	UTSW	15	85,705,368 (GRCm39)	nonsense	probably null
R4939:Pkdrej	UTSW	15	85,704,484 (GRCm39)	missense	possibly damaging	0.82
R4954:Pkdrej	UTSW	15	85,700,602 (GRCm39)	missense	probably damaging	0.99
R4974:Pkdrej	UTSW	15	85,704,610 (GRCm39)	missense	probably benign	0.00
R4982:Pkdrej	UTSW	15	85,703,197 (GRCm39)	missense	probably damaging	0.99
R5105:Pkdrej	UTSW	15	85,700,585 (GRCm39)	missense	probably damaging	1.00
R5270:Pkdrej	UTSW	15	85,702,528 (GRCm39)	missense	probably damaging	1.00
R5296:Pkdrej	UTSW	15	85,701,319 (GRCm39)	missense	possibly damaging	0.67
R5631:Pkdrej	UTSW	15	85,704,638 (GRCm39)	missense	probably benign
R5909:Pkdrej	UTSW	15	85,702,497 (GRCm39)	missense	possibly damaging	0.82
R5998:Pkdrej	UTSW	15	85,699,654 (GRCm39)	missense	probably benign	0.01
R6037:Pkdrej	UTSW	15	85,703,967 (GRCm39)	missense	probably damaging	0.99
R6037:Pkdrej	UTSW	15	85,703,967 (GRCm39)	missense	probably damaging	0.99
R6125:Pkdrej	UTSW	15	85,700,585 (GRCm39)	missense	probably damaging	1.00
R6270:Pkdrej	UTSW	15	85,705,306 (GRCm39)	nonsense	probably null
R6500:Pkdrej	UTSW	15	85,703,747 (GRCm39)	missense	probably damaging	0.98
R6776:Pkdrej	UTSW	15	85,701,510 (GRCm39)	nonsense	probably null
R6786:Pkdrej	UTSW	15	85,702,850 (GRCm39)	missense	probably benign
R6866:Pkdrej	UTSW	15	85,705,082 (GRCm39)	missense	probably damaging	1.00
R6954:Pkdrej	UTSW	15	85,702,054 (GRCm39)	nonsense	probably null
R7086:Pkdrej	UTSW	15	85,704,317 (GRCm39)	missense	probably damaging	1.00
R7231:Pkdrej	UTSW	15	85,700,389 (GRCm39)	missense	possibly damaging	0.55
R7233:Pkdrej	UTSW	15	85,705,349 (GRCm39)	missense	probably damaging	0.96
R7289:Pkdrej	UTSW	15	85,705,301 (GRCm39)	missense	probably benign
R7549:Pkdrej	UTSW	15	85,703,994 (GRCm39)	missense	probably damaging	1.00
R7582:Pkdrej	UTSW	15	85,703,122 (GRCm39)	missense	possibly damaging	0.92
R7677:Pkdrej	UTSW	15	85,699,788 (GRCm39)	missense	probably benign	0.01
R7791:Pkdrej	UTSW	15	85,700,132 (GRCm39)	missense	possibly damaging	0.87
R7873:Pkdrej	UTSW	15	85,700,724 (GRCm39)	missense	probably benign	0.29
R8121:Pkdrej	UTSW	15	85,699,655 (GRCm39)	missense	probably benign	0.00
R8140:Pkdrej	UTSW	15	85,702,611 (GRCm39)	missense	probably damaging	1.00
R8219:Pkdrej	UTSW	15	85,705,493 (GRCm39)	missense	probably damaging	0.99
R8222:Pkdrej	UTSW	15	85,701,640 (GRCm39)	missense	probably benign
R8432:Pkdrej	UTSW	15	85,701,494 (GRCm39)	missense	probably benign	0.00
R8755:Pkdrej	UTSW	15	85,703,807 (GRCm39)	missense	probably benign	0.00
R8786:Pkdrej	UTSW	15	85,704,044 (GRCm39)	missense	probably benign	0.01
R8817:Pkdrej	UTSW	15	85,702,774 (GRCm39)	missense	probably damaging	1.00
R8827:Pkdrej	UTSW	15	85,699,732 (GRCm39)	missense	possibly damaging	0.76
R8966:Pkdrej	UTSW	15	85,702,012 (GRCm39)	missense	probably damaging	0.99
R8988:Pkdrej	UTSW	15	85,700,538 (GRCm39)	missense	probably damaging	0.99
R9028:Pkdrej	UTSW	15	85,701,098 (GRCm39)	missense	probably damaging	1.00
R9257:Pkdrej	UTSW	15	85,700,098 (GRCm39)	missense	probably damaging	1.00
R9279:Pkdrej	UTSW	15	85,700,834 (GRCm39)	missense	probably damaging	1.00
R9404:Pkdrej	UTSW	15	85,703,270 (GRCm39)	missense	probably benign	0.39
R9433:Pkdrej	UTSW	15	85,704,070 (GRCm39)	missense	probably benign	0.03
R9454:Pkdrej	UTSW	15	85,702,420 (GRCm39)	missense	probably benign	0.05
R9479:Pkdrej	UTSW	15	85,699,571 (GRCm39)	missense	possibly damaging	0.64
R9720:Pkdrej	UTSW	15	85,702,497 (GRCm39)	missense	possibly damaging	0.82
R9748:Pkdrej	UTSW	15	85,704,871 (GRCm39)	missense	possibly damaging	0.91
R9760:Pkdrej	UTSW	15	85,705,268 (GRCm39)	missense	probably benign	0.30
Z1177:Pkdrej	UTSW	15	85,700,738 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCTTCTGGGTCAATGCCGTACTG -3'
(R):5'- AGCATGTACCAGCCCATCACTGAG -3'

Sequencing Primer
(F):5'- AATGCCGTACTGTGGGTGAC -3'
(R):5'- AATCCAGATCCTCAGGCGG -3'

Posted On

2014-04-13