Mutagenetix > Incidental Mutation

Incidental Mutation 'R3029:Pkdrej'

265918

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

040545-MU

Accession Numbers

Essential gene?

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

Stock #

R3029 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85698877-85705934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85701205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1577 (R1577Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064370
AA Change: R1577Q

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: R1577Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	A	G	1: 85,645,966 (GRCm39)	I213T	probably benign	Het
Atp8a2	CGT	CGTGT	14: 59,928,914 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdk6	G	A	5: 3,440,817 (GRCm39)		probably null	Het
Cryab	T	A	9: 50,667,638 (GRCm39)	I124N	probably damaging	Het
E2f5	A	G	3: 14,668,725 (GRCm39)	I206V	probably benign	Het
Eya4	T	C	10: 22,999,776 (GRCm39)	T396A	probably benign	Het
Fat2	T	C	11: 55,175,535 (GRCm39)	Y1726C	probably damaging	Het
Gad1	G	A	2: 70,425,034 (GRCm39)	V443I	probably benign	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Itgad	T	A	7: 127,777,543 (GRCm39)	I141N	possibly damaging	Het
Kcnh1	C	T	1: 192,188,368 (GRCm39)	T970M	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nlrp1a	T	A	11: 71,014,456 (GRCm39)	T265S	probably damaging	Het
Nsun4	A	G	4: 115,909,922 (GRCm39)	S213P	possibly damaging	Het
Proz	A	T	8: 13,111,042 (GRCm39)	I5F	probably benign	Het
Rbm48	A	T	5: 3,646,043 (GRCm39)	F54I	possibly damaging	Het
Rgs20	T	C	1: 5,140,276 (GRCm39)	D42G	probably benign	Het
Rxfp2	A	C	5: 149,966,595 (GRCm39)	D111A	probably benign	Het
Sparcl1	T	C	5: 104,241,092 (GRCm39)	T111A	possibly damaging	Het
Vmn2r14	T	A	5: 109,363,776 (GRCm39)	L713F	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
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'- ATTTTAGAAGAGCTGTCCGGAAG -3'
(R):5'- TCTCGTGGTCCAGCAAGTAC -3'

Sequencing Primer
(F):5'- GAGCCAGGTGTAGATATCTCCCAG -3'
(R):5'- GTGGTCCAGCAAGTACCATTACTC -3'

Posted On

2015-02-05