Mutagenetix > Incidental Mutation

Incidental Mutation 'R7791:Pkdrej'

599899

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

045847-MU

Accession Numbers

Essential gene?

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

Stock #

R7791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85698877-85705934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85700132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1935 (I1935L)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064370] [ENSMUST00000071876] [ENSMUST00000125947] [ENSMUST00000134631] [ENSMUST00000144067] [ENSMUST00000150995] [ENSMUST00000154814]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064370
AA Change: I1935L

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: I1935L

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: ENSMUST00000125947

SMART Domains

Protein: ENSMUSP00000114528
Gene: ENSMUSG00000064284

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,508 (GRCm39)	M108K	probably benign	Het
AAdacl4fm3	A	G	4: 144,430,015 (GRCm39)	S325P	probably damaging	Het
Adamts9	A	T	6: 92,849,366 (GRCm39)	V1031D	probably benign	Het
Agap3	C	T	5: 24,681,411 (GRCm39)	R122C	probably damaging	Het
Arhgap27	A	G	11: 103,230,020 (GRCm39)		probably null	Het
Atp1a2	T	A	1: 172,103,782 (GRCm39)	I950F	probably benign	Het
Bahcc1	T	G	11: 120,159,203 (GRCm39)	H143Q	probably damaging	Het
Bcl7b	T	A	5: 135,199,968 (GRCm39)	D40E	probably damaging	Het
C9	C	T	15: 6,519,359 (GRCm39)	R399C	possibly damaging	Het
Capn13	T	C	17: 73,689,883 (GRCm39)	I43V	possibly damaging	Het
Ctcf	A	G	8: 106,391,571 (GRCm39)	T289A	possibly damaging	Het
Cux2	T	C	5: 122,005,162 (GRCm39)	N1008S	probably benign	Het
Dst	T	A	1: 34,193,673 (GRCm39)	M294K	probably damaging	Het
Eml4	G	T	17: 83,781,135 (GRCm39)	D778Y	probably benign	Het
Exoc3l4	A	C	12: 111,389,974 (GRCm39)	D183A	probably damaging	Het
Eya4	A	T	10: 22,989,825 (GRCm39)	S511T	probably damaging	Het
Fbrsl1	T	C	5: 110,595,885 (GRCm39)	H50R	probably benign	Het
Gemin5	G	A	11: 58,015,819 (GRCm39)	P1396S	probably benign	Het
Gnb4	A	G	3: 32,644,192 (GRCm39)	F151L	possibly damaging	Het
Gnptab	A	G	10: 88,276,084 (GRCm39)		probably null	Het
Gpbp1l1	T	A	4: 116,431,617 (GRCm39)	W92R	probably damaging	Het
Gucy1b1	A	T	3: 81,942,704 (GRCm39)	Y479*	probably null	Het
Htr3a	T	A	9: 48,812,875 (GRCm39)	Q188L	possibly damaging	Het
Ighv5-9-1	A	G	12: 113,700,165 (GRCm39)	F18S	probably damaging	Het
Loxhd1	A	G	18: 77,471,425 (GRCm39)	T1004A	probably damaging	Het
Mansc4	G	A	6: 146,983,042 (GRCm39)	L132F	unknown	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtor	G	T	4: 148,547,397 (GRCm39)	R460L	probably benign	Het
Mtus1	A	T	8: 41,536,417 (GRCm39)	F433Y	possibly damaging	Het
Myoc	T	C	1: 162,476,690 (GRCm39)	Y465H	probably damaging	Het
N4bp1	A	G	8: 87,579,831 (GRCm39)	V657A	probably damaging	Het
Ndufv1	A	T	19: 4,061,533 (GRCm39)		probably null	Het
Nectin1	T	C	9: 43,703,336 (GRCm39)	I198T	probably benign	Het
Or10h1	T	A	17: 33,418,326 (GRCm39)	C101*	probably null	Het
Or8g20	T	C	9: 39,396,177 (GRCm39)	D124G	probably damaging	Het
Padi2	C	T	4: 140,644,907 (GRCm39)	T47I	probably benign	Het
Pdia4	A	T	6: 47,784,056 (GRCm39)	I116N	probably damaging	Het
Pnpla7	C	A	2: 24,942,078 (GRCm39)	A1173D	probably damaging	Het
Ralgapa1	A	T	12: 55,788,304 (GRCm39)	L593Q	probably damaging	Het
Scn5a	A	G	9: 119,372,402 (GRCm39)	S231P	possibly damaging	Het
Slc13a2	A	G	11: 78,312,890 (GRCm39)		probably null	Het
Spdl1	A	G	11: 34,704,304 (GRCm39)	S510P	possibly damaging	Het
Tbxa2r	G	T	10: 81,170,540 (GRCm39)	*342L	probably null	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Tmem52b	A	G	6: 129,489,966 (GRCm39)		probably benign	Het
Tsc1	T	C	2: 28,571,960 (GRCm39)	F844L	probably damaging	Het
Ttc39a	A	G	4: 109,283,544 (GRCm39)	N158S	probably benign	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Vgf	T	C	5: 137,060,885 (GRCm39)	L349P	unknown	Het
Vil1	T	C	1: 74,467,295 (GRCm39)	Y681H	probably damaging	Het
Zfp654	A	G	16: 64,603,634 (GRCm39)	*572R	probably null	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
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
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'- TTCTGAAAGGCTGACACGC -3'
(R):5'- TCAAGTGCATGTTCGCTCTC -3'

Sequencing Primer
(F):5'- GGCGTGAATCATATTGCTGTAATTCC -3'
(R):5'- AAGTGCATGTTCGCTCTCCTGATAG -3'

Posted On

2019-11-26