Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Pkdrej'

532398

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

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

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85698877-85705934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85702850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1029 (T1029A)

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: T1029A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: T1029A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	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
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'- AGTCAGTATTACCACATTGTCCC -3'
(R):5'- GAAGCCCACTAACAAGCTAGTG -3'

Sequencing Primer
(F):5'- ACATCCCTGTGCAAGGC -3'
(R):5'- CTAACAAGCTAGTGAGAATTGCTC -3'

Posted On

2018-08-29