Mutagenetix > Incidental Mutations

Incidental Mutation 'R4939:Pkdrej'

382953

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

042538-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85814670-85821734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85820283 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 484 (I484T)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064370
AA Change: I484T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: I484T

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,243,725	Y365F	possibly damaging	Het
Atp2a1	T	C	7: 126,450,116	M585V	probably benign	Het
Brca1	A	G	11: 101,508,050	V1572A	probably benign	Het
C1ql4	A	T	15: 99,087,640	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,992,157		probably null	Het
Cdk6	A	T	5: 3,344,377	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,488,230		probably benign	Het
Clic4	T	C	4: 135,223,541	E113G	probably benign	Het
Creld1	C	A	6: 113,488,179	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,247,676		probably null	Het
Dnaaf3	A	T	7: 4,527,145	S246R	probably damaging	Het
Dnah12	A	T	14: 26,891,524	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,597	D446V	probably damaging	Het
Dock8	A	T	19: 25,122,400	Y629F	probably damaging	Het
E2f8	A	T	7: 48,872,138	N405K	probably benign	Het
Flg	A	G	3: 93,279,847	N202S	probably benign	Het
Glyatl3	A	G	17: 40,910,023		probably null	Het
Gm10696	A	T	3: 94,176,233	Y90*	probably null	Het
Gm38999	A	G	7: 43,428,461	T63A	possibly damaging	Het
Gm4981	T	C	10: 58,235,603	N263S	probably benign	Het
Grap	A	G	11: 61,660,298	Y52C	probably damaging	Het
Haus2	T	A	2: 120,619,036	I187K	probably damaging	Het
Heatr5b	T	C	17: 78,762,260	E1686G	probably benign	Het
Herc2	A	G	7: 56,206,736	D3944G	probably damaging	Het
Hexdc	A	T	11: 121,207,716	M9L	probably benign	Het
Hoxa3	T	C	6: 52,170,676		probably benign	Het
Hspg2	A	T	4: 137,508,031	I126F	probably damaging	Het
Itpr1	T	A	6: 108,440,558	C123*	probably null	Het
Jmjd1c	T	A	10: 67,246,137	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,729,686	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,815,245	S747R	possibly damaging	Het
Krt26	T	C	11: 99,334,696	M320V	probably benign	Het
Lama1	T	G	17: 67,737,475	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,126,836	D1103G	probably damaging	Het
Lepr	A	T	4: 101,733,438	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,709,979		probably null	Het
Mcoln2	A	T	3: 146,192,241	H39L	probably benign	Het
Myh11	T	A	16: 14,239,507	T315S	probably benign	Het
Ncapd3	T	C	9: 27,063,869		probably null	Het
Nlrp9b	G	T	7: 20,024,496	V553F	probably damaging	Het
Nubpl	A	G	12: 52,181,095	N129S	probably damaging	Het
Nup214	C	A	2: 31,983,159	T255K	probably benign	Het
Olfr1390	A	G	11: 49,340,549	T6A	probably benign	Het
Olfr1469	T	A	19: 13,410,855	N95K	probably benign	Het
Olfr218	T	C	1: 173,203,463	Y36H	possibly damaging	Het
Olfr325	G	T	11: 58,581,211	M122I	probably damaging	Het
Olfr464	G	T	11: 87,914,124	P261T	probably damaging	Het
Olfr619	T	C	7: 103,604,251	V199A	probably benign	Het
Orc3	G	A	4: 34,593,126	Q256*	probably null	Het
Pbrm1	A	G	14: 31,061,623	M566V	probably damaging	Het
Pde6b	A	G	5: 108,421,497	I357V	probably benign	Het
Plvap	A	G	8: 71,511,439	V93A	probably benign	Het
Plxna4	T	C	6: 32,165,762	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,328,079	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,517,469		probably null	Het
Ranbp17	T	C	11: 33,219,223	N997S	probably benign	Het
Rpap2	G	T	5: 107,603,625		probably null	Het
Rrm1	T	C	7: 102,466,924	V683A	probably benign	Het
Ruvbl1	A	G	6: 88,483,039		probably null	Het
Sh3pxd2a	A	G	19: 47,278,404	Y277H	probably damaging	Het
Shank1	C	T	7: 44,326,162	P477S	unknown	Het
Shtn1	T	C	19: 59,022,201	E278G	probably benign	Het
Skap2	T	A	6: 51,922,323	I109F	possibly damaging	Het
Skiv2l2	T	C	13: 112,909,892	D308G	possibly damaging	Het
Slc28a3	A	C	13: 58,558,581	I615M	probably benign	Het
Slc4a11	A	G	2: 130,684,868	L780P	probably damaging	Het
Slc5a4b	T	C	10: 76,081,467	E245G	probably benign	Het
Slfn8	C	T	11: 83,003,285	A843T	probably benign	Het
Sncaip	A	T	18: 52,907,263	Q843L	possibly damaging	Het
Spidr	T	A	16: 16,140,746	K51*	probably null	Het
Tas2r123	T	C	6: 132,847,845	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,130,469	D757G	probably benign	Het
Tmem132d	A	T	5: 127,796,075	V490D	probably damaging	Het
Top2a	T	A	11: 99,010,092	H557L	probably damaging	Het
Trafd1	A	G	5: 121,375,191	I328T	probably benign	Het
Trappc11	G	A	8: 47,519,665	A291V	probably damaging	Het
Tuba1c	A	G	15: 99,037,954	Y432C	probably damaging	Het
Utp11	T	G	4: 124,683,250	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,842,891	T239P	probably damaging	Het
Vwce	A	T	19: 10,645,050	N239Y	probably damaging	Het
Yes1	T	C	5: 32,645,113		probably null	Het
Zfand6	A	C	7: 84,615,822	*224G	probably null	Het
Zfp408	A	T	2: 91,645,105	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,911,044		probably null	Het
Zfp946	T	C	17: 22,455,437	F391L	probably damaging	Het

Other mutations in Pkdrej

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Pkdrej	APN	15	85817226	missense	probably damaging	1.00
IGL00981:Pkdrej	APN	15	85819656	missense	probably damaging	1.00
IGL01066:Pkdrej	APN	15	85816159	missense	probably benign	0.22
IGL01461:Pkdrej	APN	15	85820374	missense	possibly damaging	0.77
IGL01514:Pkdrej	APN	15	85818063	missense	possibly damaging	0.82
IGL01606:Pkdrej	APN	15	85817700	missense	possibly damaging	0.67
IGL01836:Pkdrej	APN	15	85820958	missense	probably damaging	1.00
IGL02089:Pkdrej	APN	15	85816288	missense	possibly damaging	0.87
IGL02197:Pkdrej	APN	15	85815793	missense	possibly damaging	0.89
IGL02331:Pkdrej	APN	15	85821327	missense	probably damaging	1.00
IGL02559:Pkdrej	APN	15	85817848	missense	probably benign
IGL02708:Pkdrej	APN	15	85820787	missense	probably damaging	1.00
IGL02739:Pkdrej	APN	15	85819694	missense	probably benign	0.41
IGL02741:Pkdrej	APN	15	85817430	missense	probably benign	0.04
IGL02882:Pkdrej	APN	15	85817296	missense	probably damaging	1.00
IGL02968:Pkdrej	APN	15	85816181	nonsense	probably null
IGL03250:Pkdrej	APN	15	85821355	missense	possibly damaging	0.92
FR4548:Pkdrej	UTSW	15	85819680	small insertion	probably benign
FR4737:Pkdrej	UTSW	15	85819680	small insertion	probably benign
PIT1430001:Pkdrej	UTSW	15	85821292	missense	probably damaging	0.99
PIT4280001:Pkdrej	UTSW	15	85819935	missense	probably benign	0.01
R0004:Pkdrej	UTSW	15	85818183	missense	probably damaging	1.00
R0116:Pkdrej	UTSW	15	85817545	nonsense	probably null
R0117:Pkdrej	UTSW	15	85816099	splice site	probably null
R0137:Pkdrej	UTSW	15	85821567	missense	possibly damaging	0.95
R0141:Pkdrej	UTSW	15	85815630	missense	probably damaging	0.99
R0325:Pkdrej	UTSW	15	85819551	missense	probably benign	0.08
R0714:Pkdrej	UTSW	15	85815511	missense	possibly damaging	0.85
R0749:Pkdrej	UTSW	15	85818074	missense	probably benign	0.43
R0750:Pkdrej	UTSW	15	85818074	missense	probably benign	0.43
R0755:Pkdrej	UTSW	15	85816135	missense	probably benign	0.00
R0938:Pkdrej	UTSW	15	85818163	missense	probably damaging	1.00
R1126:Pkdrej	UTSW	15	85816314	missense	probably damaging	0.99
R1204:Pkdrej	UTSW	15	85818312	missense	probably damaging	1.00
R1353:Pkdrej	UTSW	15	85818918	missense	probably damaging	1.00
R1471:Pkdrej	UTSW	15	85817133	missense	probably benign	0.37
R1510:Pkdrej	UTSW	15	85816762	missense	possibly damaging	0.61
R1573:Pkdrej	UTSW	15	85818074	missense	probably benign	0.43
R1588:Pkdrej	UTSW	15	85817241	missense	probably benign	0.44
R1739:Pkdrej	UTSW	15	85820427	missense	probably benign	0.03
R1779:Pkdrej	UTSW	15	85821171	missense	possibly damaging	0.83
R1781:Pkdrej	UTSW	15	85821171	missense	possibly damaging	0.83
R1828:Pkdrej	UTSW	15	85819282	missense	possibly damaging	0.48
R1865:Pkdrej	UTSW	15	85820324	nonsense	probably null
R1870:Pkdrej	UTSW	15	85816431	missense	probably damaging	1.00
R1937:Pkdrej	UTSW	15	85819167	missense	probably benign	0.00
R2069:Pkdrej	UTSW	15	85821231	missense	probably benign	0.01
R2113:Pkdrej	UTSW	15	85818984	missense	probably damaging	1.00
R2135:Pkdrej	UTSW	15	85816506	missense	probably damaging	1.00
R2428:Pkdrej	UTSW	15	85817572	nonsense	probably null
R2991:Pkdrej	UTSW	15	85819936	missense	probably benign	0.00
R3029:Pkdrej	UTSW	15	85817004	missense	probably benign	0.16
R3162:Pkdrej	UTSW	15	85816617	missense	probably damaging	1.00
R3162:Pkdrej	UTSW	15	85816617	missense	probably damaging	1.00
R3747:Pkdrej	UTSW	15	85821077	missense	probably damaging	0.96
R3748:Pkdrej	UTSW	15	85821077	missense	probably damaging	0.96
R3749:Pkdrej	UTSW	15	85821077	missense	probably damaging	0.96
R4028:Pkdrej	UTSW	15	85817492	missense	probably benign	0.02
R4169:Pkdrej	UTSW	15	85816314	missense	probably benign	0.24
R4241:Pkdrej	UTSW	15	85818144	missense	probably damaging	1.00
R4242:Pkdrej	UTSW	15	85818144	missense	probably damaging	1.00
R4705:Pkdrej	UTSW	15	85821167	nonsense	probably null
R4954:Pkdrej	UTSW	15	85816401	missense	probably damaging	0.99
R4974:Pkdrej	UTSW	15	85820409	missense	probably benign	0.00
R4982:Pkdrej	UTSW	15	85818996	missense	probably damaging	0.99
R5105:Pkdrej	UTSW	15	85816384	missense	probably damaging	1.00
R5270:Pkdrej	UTSW	15	85818327	missense	probably damaging	1.00
R5296:Pkdrej	UTSW	15	85817118	missense	possibly damaging	0.67
R5631:Pkdrej	UTSW	15	85820437	missense	probably benign
R5909:Pkdrej	UTSW	15	85818296	missense	possibly damaging	0.82
R5998:Pkdrej	UTSW	15	85815453	missense	probably benign	0.01
R6037:Pkdrej	UTSW	15	85819766	missense	probably damaging	0.99
R6037:Pkdrej	UTSW	15	85819766	missense	probably damaging	0.99
R6125:Pkdrej	UTSW	15	85816384	missense	probably damaging	1.00
R6270:Pkdrej	UTSW	15	85821105	nonsense	probably null
R6500:Pkdrej	UTSW	15	85819546	missense	probably damaging	0.98
R6776:Pkdrej	UTSW	15	85817309	nonsense	probably null
R6786:Pkdrej	UTSW	15	85818649	missense	probably benign
R6866:Pkdrej	UTSW	15	85820881	missense	probably damaging	1.00
R6954:Pkdrej	UTSW	15	85817853	nonsense	probably null
R7086:Pkdrej	UTSW	15	85820116	missense	probably damaging	1.00
R7231:Pkdrej	UTSW	15	85816188	missense	possibly damaging	0.55
R7233:Pkdrej	UTSW	15	85821148	missense	probably damaging	0.96
R7289:Pkdrej	UTSW	15	85821100	missense	probably benign
R7549:Pkdrej	UTSW	15	85819793	missense	probably damaging	1.00
R7582:Pkdrej	UTSW	15	85818921	missense	possibly damaging	0.92
R7677:Pkdrej	UTSW	15	85815587	missense	probably benign	0.01
R7791:Pkdrej	UTSW	15	85815931	missense	possibly damaging	0.87
R7873:Pkdrej	UTSW	15	85816523	missense	probably benign	0.29
R8121:Pkdrej	UTSW	15	85815454	missense	probably benign	0.00
R8140:Pkdrej	UTSW	15	85818410	missense	probably damaging	1.00
R8219:Pkdrej	UTSW	15	85821292	missense	probably damaging	0.99
R8222:Pkdrej	UTSW	15	85817439	missense	probably benign
R8432:Pkdrej	UTSW	15	85817293	missense	probably benign	0.00
R8755:Pkdrej	UTSW	15	85819606	missense	probably benign	0.00
Z1177:Pkdrej	UTSW	15	85816537	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAAGAGTCCCTGACAGTAGG -3'
(R):5'- CTGAAATCTTGGAGTGGTATGACC -3'

Sequencing Primer
(F):5'- CGCTTGCAAAGTCACTTGAG -3'
(R):5'- TGGTATGACCACGACCTTGAGAC -3'

Posted On

2016-04-27