Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Pkdrej'

213590

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

039955-MU

Accession Numbers

Essential gene?

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

Stock #

R1937 (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 85819167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 856 (I856T)

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: I856T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: I856T

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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	T	11: 101,987,163	H17L	probably damaging	Het
5730480H06Rik	C	A	5: 48,374,435	T35K	probably benign	Het
Abhd14a	A	G	9: 106,440,247		probably benign	Het
Abhd8	A	G	8: 71,461,862	F41L	possibly damaging	Het
Ace2	A	T	X: 164,156,528	M123L	possibly damaging	Het
Actr5	T	C	2: 158,636,029	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,446,384	N81K	probably benign	Het
Aqp11	T	A	7: 97,737,518	N157I	possibly damaging	Het
Arhgap10	T	C	8: 77,344,653	E568G	probably damaging	Het
Asb7	T	A	7: 66,679,253	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,560,780	A345E	probably benign	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Bpifb4	A	T	2: 153,944,076	I259F	probably damaging	Het
Cand1	A	T	10: 119,203,020	D1218E	probably damaging	Het
Capg	A	G	6: 72,558,253		probably null	Het
Cep290	C	T	10: 100,497,953	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,593,818	Y548C	probably damaging	Het
Clock	A	G	5: 76,229,493	L652P	probably damaging	Het
Col3a1	C	T	1: 45,334,293		probably benign	Het
Coro7	T	C	16: 4,628,732	E843G	probably benign	Het
Crebrf	T	C	17: 26,742,468	S188P	probably damaging	Het
Cul1	T	C	6: 47,508,355	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,540,316	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,094,377	S117P	possibly damaging	Het
Ddias	A	G	7: 92,858,622	I695T	probably benign	Het
Dhx29	G	A	13: 112,965,330	G1311D	probably benign	Het
Diexf	A	T	1: 193,122,093	D200E	probably damaging	Het
Dync2h1	A	G	9: 7,139,159		probably null	Het
Ece2	T	A	16: 20,617,866	V146E	probably damaging	Het
Eml2	A	G	7: 19,203,964	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,884,392	E316G	probably benign	Het
Fam135b	A	T	15: 71,622,014	L22H	probably damaging	Het
Fam166b	T	A	4: 43,427,586	K220N	probably damaging	Het
Focad	T	A	4: 88,401,081	M1K	probably null	Het
Fryl	A	G	5: 73,133,367	S65P	probably damaging	Het
Gm14190	C	T	11: 99,690,730	C4Y	unknown	Het
Gm8909	T	A	17: 36,168,007	T117S	probably damaging	Het
Ift74	T	A	4: 94,662,646	M345K	probably benign	Het
Ispd	G	A	12: 36,390,368	V92I	probably benign	Het
Jag1	C	G	2: 137,083,473	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,263,021	T302A	probably benign	Het
Kif20b	T	C	19: 34,952,878	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,946,610		probably null	Het
Lpxn	T	G	19: 12,824,910	S200A	probably benign	Het
Meiob	A	G	17: 24,818,331	H61R	probably benign	Het
Mfhas1	C	T	8: 35,589,645	L425F	probably damaging	Het
Myo3a	A	T	2: 22,396,315	S632C	probably damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nbeal1	T	A	1: 60,267,941	Y374*	probably null	Het
Notch3	T	C	17: 32,153,852	S582G	probably benign	Het
Nphs1	A	T	7: 30,474,373	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,802,984	H248L	probably benign	Het
Olfr154	T	C	2: 85,663,997	I146V	probably benign	Het
Olfr193	A	T	16: 59,109,794	M272K	probably benign	Het
Olfr368	A	T	2: 37,331,884	N46Y	probably damaging	Het
Olfr955	A	G	9: 39,470,037	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,642,272	I639F	possibly damaging	Het
Panx1	G	T	9: 15,007,684	T293K	possibly damaging	Het
Papss1	G	T	3: 131,599,871	V226F	probably benign	Het
Pax1	G	T	2: 147,367,889	G301V	possibly damaging	Het
Pdlim5	C	A	3: 142,244,981	R557L	possibly damaging	Het
Pdyn	C	A	2: 129,689,809	M20I	probably benign	Het
Pelp1	G	A	11: 70,393,715		probably null	Het
Pkd2	T	C	5: 104,478,924	V324A	probably damaging	Het
Polr1a	T	C	6: 71,936,552		probably null	Het
Pot1a	A	T	6: 25,753,324	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,016,429	I430N	possibly damaging	Het
Prob1	C	T	18: 35,654,226	R325Q	possibly damaging	Het
Prrc2a	T	C	17: 35,157,908	D742G	probably damaging	Het
Psmc1	C	T	12: 100,114,843	P54S	probably benign	Het
Rab22a	A	G	2: 173,688,211	T61A	probably damaging	Het
Rims1	T	A	1: 22,288,530	K184N	probably damaging	Het
Rnf213	G	A	11: 119,431,685	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,668,962	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,732,161	K143R	probably benign	Het
Slc22a15	T	G	3: 101,880,189		probably null	Het
Slc25a14	G	A	X: 48,651,963	V210I	probably benign	Het
Slc25a48	A	C	13: 56,448,998	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,166,056		probably null	Het
Slx4	T	C	16: 3,987,166	*105W	probably null	Het
Smc6	A	G	12: 11,299,398	N794S	probably benign	Het
Spata18	G	A	5: 73,676,964	R387Q	probably damaging	Het
Sphkap	C	A	1: 83,267,441	E1486*	probably null	Het
Srsf6	C	T	2: 162,934,483		probably benign	Het
St8sia1	C	T	6: 142,963,672	A33T	probably damaging	Het
Tet2	T	C	3: 133,488,638	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,825,304	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,756,023	D1450G	possibly damaging	Het
Top1	A	T	2: 160,670,122	K27N	unknown	Het
Tox2	A	G	2: 163,225,556	H30R	probably benign	Het
Tra2b	T	C	16: 22,247,243		probably benign	Het
Trio	A	T	15: 27,833,056	V1165E	probably damaging	Het
Troap	T	A	15: 99,077,388	S145R	probably damaging	Het
Ttc34	G	A	4: 154,865,682	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,616,323	P302S	probably benign	Het
Ubiad1	A	G	4: 148,444,011	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,001,282	V131F	probably damaging	Het
Vmn1r167	G	A	7: 23,505,027	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,976,734	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,359,414	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,995,136	S689P	probably damaging	Het
Wipf2	C	T	11: 98,892,410	R221*	probably null	Het
Zbtb16	T	C	9: 48,659,778	S563G	probably benign	Het
Zfp319	T	C	8: 95,328,571	T335A	probably damaging	Het
Zfp418	A	G	7: 7,182,402	R455G	possibly 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
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
R4939:Pkdrej	UTSW	15	85820283	missense	possibly damaging	0.82
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
R8786:Pkdrej	UTSW	15	85819843	missense	probably benign	0.01
R8817:Pkdrej	UTSW	15	85818573	missense	probably damaging	1.00
R8827:Pkdrej	UTSW	15	85815531	missense	possibly damaging	0.76
R8966:Pkdrej	UTSW	15	85817811	missense	probably damaging	0.99
R8988:Pkdrej	UTSW	15	85816337	missense	probably damaging	0.99
R9028:Pkdrej	UTSW	15	85816897	missense	probably damaging	1.00
R9257:Pkdrej	UTSW	15	85815897	missense	probably damaging	1.00
R9279:Pkdrej	UTSW	15	85816633	missense	probably damaging	1.00
R9404:Pkdrej	UTSW	15	85819069	missense	probably benign	0.39
R9433:Pkdrej	UTSW	15	85819869	missense	probably benign	0.03
R9454:Pkdrej	UTSW	15	85818219	missense	probably benign	0.05
R9479:Pkdrej	UTSW	15	85815370	missense	possibly damaging	0.64
R9720:Pkdrej	UTSW	15	85818296	missense	possibly damaging	0.82
R9748:Pkdrej	UTSW	15	85820670	missense	possibly damaging	0.91
R9760:Pkdrej	UTSW	15	85821067	missense	probably benign	0.30
Z1177:Pkdrej	UTSW	15	85816537	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTTGACTGAACAGGTTGGG -3'
(R):5'- TCCTTGGTTGACTTACCCGG -3'

Sequencing Primer
(F):5'- CACTCCACTTGACAATGGGAGG -3'
(R):5'- CTTGGTTGACTTACCCGGAAAAC -3'

Posted On

2014-07-14