Mutagenetix > Incidental Mutations

Incidental Mutation 'R0755:Pkdrej'

70472

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

038935-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85814670-85821734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85816135 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1867 (I1867L)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064370
AA Change: I1867L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: I1867L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,946,364	S1231P	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,181		probably benign	Het
Acin1	A	G	14: 54,651,835	M1T	probably null	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Aldh1a1	A	G	19: 20,617,994	M96V	probably benign	Het
Ankfn1	T	A	11: 89,392,087	M245L	probably benign	Het
Arhgap19	T	C	19: 41,781,175	K54E	probably damaging	Het
Atp1a2	T	C	1: 172,289,381	Q223R	probably benign	Het
Atp8a2	C	T	14: 60,009,881	V557I	possibly damaging	Het
AU041133	A	T	10: 82,150,890	K126*	probably null	Het
Axin1	T	A	17: 26,182,506	Y351N	possibly damaging	Het
Baiap2l1	T	C	5: 144,284,557	K176E	probably damaging	Het
Baz2a	C	T	10: 128,119,691	T848I	possibly damaging	Het
Bbs2	A	C	8: 94,082,080	V333G	probably benign	Het
BC051019	G	A	7: 109,716,095	Q318*	probably null	Het
Cdc37	C	T	9: 21,139,864	D362N	probably damaging	Het
Cep170	A	T	1: 176,755,753	V1020E	probably damaging	Het
Chrm4	T	C	2: 91,928,402	V385A	probably benign	Het
Cntrl	G	A	2: 35,145,139	S373N	probably damaging	Het
Col23a1	G	A	11: 51,576,879	G19D	probably damaging	Het
Cyb5r4	G	T	9: 87,029,572	A100S	probably damaging	Het
Dctn1	C	T	6: 83,189,077	P115S	probably damaging	Het
Dhrs2	C	T	14: 55,234,790	T46M	probably damaging	Het
Disp2	T	C	2: 118,789,762	F325S	probably benign	Het
Dnah11	T	G	12: 117,954,829	T3456P	possibly damaging	Het
Dnah11	C	A	12: 118,198,625	V70F	probably benign	Het
Duoxa1	T	A	2: 122,304,680	T195S	probably benign	Het
Eif2ak1	T	A	5: 143,884,924	F353I	possibly damaging	Het
Esam	A	G	9: 37,536,702	T211A	probably damaging	Het
Faf1	A	G	4: 109,961,839	N636S	probably benign	Het
Fbxo25	A	G	8: 13,935,219	Y305C	probably benign	Het
Fchsd1	C	T	18: 37,968,750		probably null	Het
Fdxacb1	T	A	9: 50,771,725	D329E	possibly damaging	Het
Gm4070	A	T	7: 105,896,685	F2387I	possibly damaging	Het
Hbq1b	A	T	11: 32,287,104		probably null	Het
Hmcn2	T	A	2: 31,453,160	V4566E	probably damaging	Het
Igkv6-29	G	A	6: 70,139,069	T5I	probably benign	Het
Itfg1	A	T	8: 85,726,205	D511E	possibly damaging	Het
Jmjd1c	C	T	10: 67,096,599		probably benign	Het
Kat6b	T	A	14: 21,637,593	M570K	probably damaging	Het
Kdm4d	T	A	9: 14,464,295	K89M	probably damaging	Het
Krt19	A	T	11: 100,142,139	D194E	possibly damaging	Het
Lamc1	A	T	1: 153,247,450	Y665N	possibly damaging	Het
Lct	A	T	1: 128,294,135	S1556T	possibly damaging	Het
Macf1	A	G	4: 123,369,926	L4924P	probably damaging	Het
Mef2c	G	A	13: 83,656,353		probably null	Het
Mff	G	A	1: 82,750,605		probably null	Het
Mycbp2	A	T	14: 103,174,794	L2581Q	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nos3	T	A	5: 24,367,297	L123M	probably damaging	Het
Ntn5	C	T	7: 45,686,528	P128S	probably benign	Het
Nudt9	T	C	5: 104,065,054	V331A	probably damaging	Het
Olfr131	A	T	17: 38,082,194	Y261*	probably null	Het
Olfr854	T	C	9: 19,567,119	I88M	possibly damaging	Het
Pcdh7	A	T	5: 57,720,322	K406N	possibly damaging	Het
Plppr4	C	T	3: 117,322,670	G455R	possibly damaging	Het
Pramef6	A	G	4: 143,897,729	V66A	probably damaging	Het
Prkag2	G	C	5: 24,947,631	S158R	probably benign	Het
Ptprq	T	G	10: 107,582,539	T1659P	probably benign	Het
Rasl12	A	G	9: 65,410,959	K202E	probably benign	Het
Rb1	A	C	14: 73,197,213	*922G	probably null	Het
Rsf1	C	T	7: 97,579,967	P22S	probably damaging	Het
Scn1a	T	G	2: 66,321,035	T797P	probably damaging	Het
Sgsm2	A	G	11: 74,865,497	V342A	probably damaging	Het
Slc22a7	T	G	17: 46,438,187	H68P	possibly damaging	Het
Slc4a2	G	A	5: 24,435,577	A652T	probably benign	Het
Slc5a1	T	A	5: 33,133,389	L106M	probably benign	Het
Slco1c1	C	T	6: 141,531,532	P19S	probably damaging	Het
Snx1	A	G	9: 66,098,456	F127S	probably damaging	Het
Snx31	A	T	15: 36,534,430	I199N	probably damaging	Het
Snx33	T	C	9: 56,925,457	I443V	possibly damaging	Het
Sptbn1	A	G	11: 30,139,016	F749L	probably damaging	Het
Stoml3	T	A	3: 53,498,138	Y53*	probably null	Het
Stxbp2	A	G	8: 3,642,019	T554A	probably benign	Het
Tal1	T	C	4: 115,068,376	I214T	probably damaging	Het
Tas2r137	T	A	6: 40,491,410	I58N	probably damaging	Het
Thap1	A	G	8: 26,158,473	Y8C	probably damaging	Het
Thsd7a	A	T	6: 12,555,369	L172Q	probably damaging	Het
Ube3c	T	A	5: 29,637,742	D735E	probably damaging	Het
Unc80	G	A	1: 66,504,923	D402N	probably damaging	Het
Upf1	G	T	8: 70,334,129	R902S	probably benign	Het
Urb1	A	G	16: 90,774,094	Y1276H	probably damaging	Het
Urb1	A	T	16: 90,779,138	F843L	probably benign	Het
Vmn1r198	C	T	13: 22,355,232	T296I	probably benign	Het
Vmn1r33	A	T	6: 66,611,908	S221T	probably damaging	Het
Vmn2r103	A	G	17: 19,773,568	D69G	probably benign	Het
Vmn2r14	T	G	5: 109,216,360	L563F	possibly damaging	Het
Vmn2r60	G	A	7: 42,195,445	G744D	probably damaging	Het
Vstm4	T	C	14: 32,892,644	V181A	probably damaging	Het
Wdr60	T	C	12: 116,211,792	I922V	probably benign	Het
Wdr72	G	A	9: 74,145,094	V136I	probably benign	Het
Zfp236	T	A	18: 82,620,332	N1388Y	probably damaging	Het
Zfp53	T	A	17: 21,508,577	F291I	probably damaging	Het
Zfp944	A	T	17: 22,339,908	H119Q	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
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
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
Z1177:Pkdrej	UTSW	15	85816537	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGCCAGGCGCACATTATAGAAG -3'
(R):5'- GTGGAACTGACCACTCTGAATCCAG -3'

Sequencing Primer
(F):5'- GAACCTGGAATATCTGAGTGTCTTC -3'
(R):5'- ACACCAGTCTGATGTGTAGC -3'

Posted On

2013-09-30