Mutagenetix > Incidental Mutation

Incidental Mutation 'R3162:Pkdrej'

349869

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

040613-MU

Accession Numbers

Essential gene?

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

Stock #

R3162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85698877-85705934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85700818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1706 (D1706V)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064370] [ENSMUST00000071876] [ENSMUST00000134631] [ENSMUST00000144067] [ENSMUST00000150995] [ENSMUST00000154814]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064370
AA Change: D1706V

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

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: D1706V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071876

SMART Domains

Protein: ENSMUSP00000071772
Gene: ENSMUSG00000064284

Domain	Start	End	E-Value	Type
Pfam:C6_DPF	13	106	3.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134631

SMART Domains

Protein: ENSMUSP00000121889
Gene: ENSMUSG00000064284

Domain	Start	End	E-Value	Type
Pfam:C6_DPF	13	109	1.6e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144067

SMART Domains

Protein: ENSMUSP00000119728
Gene: ENSMUSG00000064284

Domain	Start	End	E-Value	Type
Pfam:C6_DPF	13	109	1.6e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150995

SMART Domains

Protein: ENSMUSP00000123174
Gene: ENSMUSG00000064284

Domain	Start	End	E-Value	Type
Pfam:C6_DPF	13	109	1.6e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154814

SMART Domains

Protein: ENSMUSP00000116823
Gene: ENSMUSG00000064284

Domain	Start	End	E-Value	Type
Pfam:C6_DPF	13	78	1e-35	PFAM

Meta Mutation Damage Score

0.7679

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (62/63)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	A	15: 59,888,134 (GRCm39)	E102V	probably damaging	Het
9930014A18Rik	A	T	15: 60,695,296 (GRCm39)	V150E	probably damaging	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
AW551984	C	A	9: 39,504,325 (GRCm39)	R547L	probably damaging	Het
B3galt6	A	G	4: 156,076,464 (GRCm39)	Y204H	probably benign	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Ddb1	T	C	19: 10,603,335 (GRCm39)	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972 (GRCm39)	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,373,562 (GRCm39)	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,646,016 (GRCm39)	D108G	possibly damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dusp6	T	C	10: 99,099,944 (GRCm39)	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,266,435 (GRCm39)	M34L	probably benign	Het
Errfi1	G	A	4: 150,951,816 (GRCm39)	E415K	probably damaging	Het
Ext1	T	C	15: 53,208,000 (GRCm39)	N254D	possibly damaging	Het
Gm13141	GGTTTCTTGATGCC	G	4: 147,612,561 (GRCm39)		noncoding transcript	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Hpx	C	T	7: 105,248,847 (GRCm39)		probably benign	Het
Hyal3	T	A	9: 107,464,005 (GRCm39)	C407S	probably damaging	Het
Insr	T	G	8: 3,211,416 (GRCm39)	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Ivd	T	C	2: 118,692,650 (GRCm39)		probably null	Het
Leprot	C	T	4: 101,515,090 (GRCm39)	T89I	probably damaging	Het
Msh6	T	C	17: 88,292,909 (GRCm39)	Y555H	probably damaging	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Nusap1	A	T	2: 119,460,885 (GRCm39)	Q126L	possibly damaging	Het
Or13c7b	T	A	4: 43,820,544 (GRCm39)	K272N	probably benign	Het
Or5al1	T	C	2: 85,990,439 (GRCm39)	I92V	probably benign	Het
Or6x1	G	T	9: 40,098,901 (GRCm39)	Q163H	probably benign	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Pdik1l	A	G	4: 134,011,561 (GRCm39)	L94S	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,924 (GRCm39)	I856M	probably damaging	Het
Prkcz	A	T	4: 155,374,981 (GRCm39)	D114E	probably benign	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,468,822 (GRCm39)	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Rlf	A	G	4: 121,006,044 (GRCm39)	S979P	probably damaging	Het
Skic2	C	T	17: 35,066,789 (GRCm39)	W88*	probably null	Het
Skic8	T	A	9: 54,631,473 (GRCm39)		probably benign	Het
Srbd1	A	T	17: 86,437,643 (GRCm39)	D233E	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Taok2	A	G	7: 126,474,347 (GRCm39)	I294T	possibly damaging	Het
Tert	A	G	13: 73,775,528 (GRCm39)	E93G	possibly damaging	Het
Tns2	A	G	15: 102,021,771 (GRCm39)	E1118G	possibly damaging	Het
Ttc22	A	T	4: 106,480,276 (GRCm39)	I177F	probably damaging	Het
Vmn2r86	T	C	10: 130,291,673 (GRCm39)	R31G	probably damaging	Het
Wnt5a	T	C	14: 28,244,445 (GRCm39)	Y231H	probably benign	Het
Zw10	T	C	9: 48,988,860 (GRCm39)	Y709H	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
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'- AAACATCTGCTGTCCTGGAAAG -3'
(R):5'- GATATCTACACCTGGCTCCACG -3'

Sequencing Primer
(F):5'- CATCTGCTGTCCTGGAAAGAAGTAG -3'
(R):5'- TTTGTTACACAATGACCCAAACC -3'

Posted On

2015-10-08