Mutagenetix > Incidental Mutation

Incidental Mutation 'R7086:Pkdrej'

549919

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

045180-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85698877-85705934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85704317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 540 (S540P)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064370
AA Change: S540P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: S540P

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

0.2280

Coding Region Coverage

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

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,068,635 (GRCm39)	H28R	probably damaging	Het
Adgre4	T	C	17: 56,127,649 (GRCm39)	I563T	probably benign	Het
Ankub1	A	T	3: 57,597,746 (GRCm39)	C75S	probably damaging	Het
Antxrl	G	A	14: 33,787,873 (GRCm39)	V299I	probably benign	Het
Arfgef2	T	A	2: 166,718,536 (GRCm39)	C1442S	probably damaging	Het
Atp13a3	T	C	16: 30,169,881 (GRCm39)	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,554,414 (GRCm39)	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cfap91	A	T	16: 38,127,219 (GRCm39)	F512L	possibly damaging	Het
Chrng	C	A	1: 87,138,735 (GRCm39)	R455S	probably benign	Het
Cimap1a	A	G	7: 140,429,402 (GRCm39)	H151R	probably benign	Het
Cluh	T	A	11: 74,558,166 (GRCm39)	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 129,946,773 (GRCm39)		probably null	Het
Cpne5	G	A	17: 29,378,051 (GRCm39)	P576L	unknown	Het
Crocc	C	A	4: 140,774,368 (GRCm39)	V144L	possibly damaging	Het
Cubn	A	G	2: 13,324,669 (GRCm39)	V2781A	probably damaging	Het
Cyp8b1	A	G	9: 121,744,355 (GRCm39)	F326L	probably benign	Het
Dclk1	G	A	3: 55,395,333 (GRCm39)		probably null	Het
Dennd2b	A	G	7: 109,124,781 (GRCm39)	I1083T	probably damaging	Het
Dnah7c	A	G	1: 46,789,285 (GRCm39)	R3303G	probably benign	Het
Dnhd1	G	T	7: 105,357,739 (GRCm39)	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,896,103 (GRCm39)	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,831,386 (GRCm39)	V829I	probably benign	Het
Gtse1	A	G	15: 85,759,750 (GRCm39)	D647G	probably damaging	Het
H2-Q7	T	A	17: 35,658,461 (GRCm39)	V33E	probably damaging	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,584,629 (GRCm39)	P175T	probably damaging	Het
Klhl10	T	C	11: 100,347,768 (GRCm39)	V608A	probably benign	Het
Klhl2	A	G	8: 65,275,664 (GRCm39)	Y80H	probably damaging	Het
Lnx2	A	T	5: 146,956,988 (GRCm39)		probably null	Het
Lst1	G	A	17: 35,404,262 (GRCm39)	H59Y	probably damaging	Het
Mphosph8	G	C	14: 56,905,980 (GRCm39)	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,316,457 (GRCm39)	S45R	possibly damaging	Het
Myh8	A	G	11: 67,183,453 (GRCm39)		probably null	Het
Or12j4	A	G	7: 140,046,341 (GRCm39)	T76A	possibly damaging	Het
Or4c52	A	G	2: 89,845,594 (GRCm39)	I107V	probably benign	Het
Phox2a	A	G	7: 101,467,718 (GRCm39)	Y5C	probably damaging	Het
Plcb4	A	G	2: 135,849,767 (GRCm39)	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,667,297 (GRCm39)	M1126V	probably benign	Het
Ppm1l	A	G	3: 69,225,186 (GRCm39)	Y96C	probably damaging	Het
Prpsap1	T	C	11: 116,368,109 (GRCm39)	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,570,409 (GRCm39)	V668A	probably damaging	Het
Rapgef2	A	G	3: 78,993,353 (GRCm39)	S712P	probably benign	Het
Rcc2	T	C	4: 140,435,280 (GRCm39)	C100R	probably benign	Het
Recql4	C	A	15: 76,589,753 (GRCm39)	G764V	unknown	Het
Rlbp1	A	G	7: 79,029,813 (GRCm39)	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,667,794 (GRCm39)	T261A	probably benign	Het
Sgtb	T	C	13: 104,254,924 (GRCm39)	S65P	possibly damaging	Het
Spag9	T	C	11: 93,988,690 (GRCm39)	V920A	probably benign	Het
Spata31	T	A	13: 65,070,043 (GRCm39)	S730R	probably benign	Het
Spta1	C	T	1: 174,027,050 (GRCm39)	A841V	probably damaging	Het
Tnfaip1	T	C	11: 78,416,265 (GRCm39)	S273G	probably benign	Het
Vezf1	T	C	11: 87,969,364 (GRCm39)	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,181,044 (GRCm39)	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,333,178 (GRCm39)	T24K	probably benign	Het
Wdr43	G	A	17: 71,923,434 (GRCm39)	G60D	probably benign	Het
Xkr4	G	A	1: 3,287,185 (GRCm39)	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,791,873 (GRCm39)	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,741,056 (GRCm39)	K403R	probably damaging	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
R1510:Pkdrej	UTSW	15	85,700,963 (GRCm39)	missense	possibly damaging	0.61
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
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'- CGGGCTCTGTCATCTTGAAG -3'
(R):5'- GGATGAGAACCTTCCCCTTAAG -3'

Sequencing Primer
(F):5'- GGCTCTGTCATCTTGAAGTTCCTG -3'
(R):5'- GAATACACTGGGTTCCGT -3'

Posted On

2019-05-15