Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01066:Pkdrej'

52759

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01066

Quality Score

Status

Chromosome

Chromosomal Location

85814670-85821734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 85816159 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1859 (I1859L)

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: I1859L

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: I1859L

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2300003K06Rik	T	A	11: 99,837,628	R130*	probably null	Het
9030624J02Rik	T	A	7: 118,773,011		probably null	Het
Abca12	T	A	1: 71,353,730	R117W	possibly damaging	Het
Agrn	A	G	4: 156,177,343	S497P	probably benign	Het
Alpk1	A	T	3: 127,680,225	S710T	probably benign	Het
Anapc4	T	A	5: 52,857,209	N471K	probably benign	Het
Ano3	A	T	2: 110,661,445	M879K	probably null	Het
Apoe	A	G	7: 19,696,600	L239P	probably damaging	Het
Ash1l	T	C	3: 88,984,635	Y1274H	probably damaging	Het
B3glct	C	T	5: 149,709,425	T80I	possibly damaging	Het
Casc1	C	T	6: 145,176,222	G624S	probably damaging	Het
Ccdc146	T	C	5: 21,319,542	T271A	probably benign	Het
Chd8	T	A	14: 52,217,766	N1088I	probably damaging	Het
Csnk1g2	T	C	10: 80,634,647		probably benign	Het
Daxx	T	A	17: 33,913,893	V627D	probably benign	Het
Dpy19l3	A	G	7: 35,692,767		probably benign	Het
Enc1	A	G	13: 97,245,314	I111V	probably benign	Het
Ep400	A	G	5: 110,668,199		probably benign	Het
Fig4	T	C	10: 41,285,417		probably benign	Het
Fkbp7	A	T	2: 76,672,908	L36*	probably null	Het
Fxn	A	T	19: 24,267,298		probably benign	Het
Gm10152	C	T	7: 144,763,256	P16L	unknown	Het
Hivep2	T	C	10: 14,149,024	V2194A	possibly damaging	Het
Hook3	T	G	8: 26,048,298	E525A	probably damaging	Het
Icam1	A	G	9: 21,016,105		probably null	Het
Ifngr1	C	T	10: 19,609,198	T315I	probably damaging	Het
Igsf10	A	G	3: 59,327,782		probably null	Het
Krt87	A	G	15: 101,438,385		probably null	Het
Lama1	T	A	17: 67,743,326	C311S	probably damaging	Het
Lig3	T	A	11: 82,797,315	M714K	possibly damaging	Het
Lrmp	T	C	6: 145,160,955	S222P	probably damaging	Het
Lypd5	C	T	7: 24,353,485	T189I	probably benign	Het
Mapk8ip3	C	T	17: 24,901,718	G807D	probably benign	Het
Met	T	C	6: 17,535,105		probably null	Het
Nlrp4g	C	A	9: 124,349,526		noncoding transcript	Het
Nlrp6	T	A	7: 140,921,796	V62D	possibly damaging	Het
Nme7	A	G	1: 164,345,430		probably null	Het
Olfr1034	A	G	2: 86,047,258	R259G	probably damaging	Het
Olfr1392	T	C	11: 49,293,630	I103T	possibly damaging	Het
Olfr507	T	C	7: 108,621,857	F15S	probably damaging	Het
Pcnx	G	A	12: 81,992,021	R2020Q	possibly damaging	Het
Pdzd2	T	A	15: 12,402,632		probably benign	Het
Pi4ka	A	G	16: 17,348,773		probably benign	Het
Plcg1	A	T	2: 160,754,398	H638L	probably damaging	Het
Polr1b	C	T	2: 129,119,152	S677L	probably damaging	Het
Ppef2	A	G	5: 92,234,237	L533P	probably damaging	Het
Sh3rf1	T	A	8: 61,329,336	W171R	probably damaging	Het
Son	T	C	16: 91,660,136		probably benign	Het
Sycp1	A	G	3: 102,920,634	S266P	probably damaging	Het
Tedc1	A	G	12: 113,163,150	E344G	probably damaging	Het
Tkfc	T	C	19: 10,594,528	I381M	probably benign	Het
Tmprss6	T	C	15: 78,442,434	D1G	probably null	Het
Ttn	T	C	2: 76,752,426	T22708A	probably damaging	Het
Ubtf	T	C	11: 102,308,884		probably benign	Het
Vwc2l	T	C	1: 70,728,911	F45L	probably damaging	Het
Xpo7	T	C	14: 70,701,755	T154A	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	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
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
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
Z1177:Pkdrej	UTSW	15	85816537	missense	probably damaging	0.99

Posted On

2013-06-21