Mutagenetix > Incidental Mutations

Incidental Mutation 'R7873:Pkdrej'

608283

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7873 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85814670-85821734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85816523 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1737 (R1737S)

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: R1737S

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: R1737S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,866,227	I229F	probably benign	Het
Abca14	T	C	7: 120,289,569	L1246S	probably benign	Het
Acacb	A	C	5: 114,223,278	S1340R	possibly damaging	Het
Ankrd6	A	T	4: 32,806,499	S585T	possibly damaging	Het
Btbd11	T	C	10: 85,631,125	V685A	possibly damaging	Het
Ccdc54	A	G	16: 50,590,309	V198A	probably benign	Het
Cnga4	A	G	7: 105,407,042	I387V	probably damaging	Het
Creg1	G	T	1: 165,769,879	D141Y	probably damaging	Het
Cxcr2	T	C	1: 74,159,007	L220P	probably benign	Het
Dennd5a	T	A	7: 109,926,934	I344F	probably damaging	Het
Dysf	A	G	6: 84,083,765	N448S	probably benign	Het
Efcab6	A	G	15: 84,018,625		probably null	Het
Elf2	C	A	3: 51,256,678	V489F	probably damaging	Het
Elmod2	G	T	8: 83,331,219	H12N	probably benign	Het
Eln	C	T	5: 134,711,187	G618E	unknown	Het
Fam129c	A	T	8: 71,602,248	I193F	probably damaging	Het
Fbxo33	G	T	12: 59,219,021	S153R	possibly damaging	Het
Fbxw7	A	T	3: 84,925,764	I38F	possibly damaging	Het
Flnc	G	A	6: 29,456,991	V2329I	possibly damaging	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm16486	A	G	8: 70,711,340	M1061V	probably benign	Het
Gm5724	T	A	6: 141,727,722	L363F	probably benign	Het
Gpr155	T	C	2: 73,343,590	E825G	possibly damaging	Het
Grk3	A	T	5: 112,929,686	M405K	probably benign	Het
Hace1	T	C	10: 45,672,787	V597A	possibly damaging	Het
Hist1h2bf	A	T	13: 23,574,070	Y41N	probably damaging	Het
Ido1	A	G	8: 24,584,742	F295S	probably damaging	Het
Ighe	T	A	12: 113,271,322	E406V		Het
Ighv1-31	G	T	12: 114,829,654	A15E	probably benign	Het
Ighv1-75	A	T	12: 115,834,368	L10H	probably damaging	Het
Inpp5e	T	A	2: 26,407,945	K215*	probably null	Het
Krt18	C	T	15: 102,030,956	T288I	probably benign	Het
Lrwd1	A	T	5: 136,123,938	I490N	probably benign	Het
Macf1	T	A	4: 123,504,551		probably null	Het
Mapk8ip3	A	G	17: 24,906,172	V482A	probably benign	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Mdk	A	G	2: 91,931,428	F7S	probably benign	Het
Mycbp2	G	A	14: 103,156,146	P2993L	probably damaging	Het
Nme4	A	T	17: 26,093,888	Y99N	probably damaging	Het
Nr1d2	G	A	14: 18,216,656	R171*	probably null	Het
Olfr63	A	G	17: 33,269,374	I217V	probably benign	Het
Osgep	G	T	14: 50,915,890	T326K	probably damaging	Het
Pdgfd	C	T	9: 6,337,271	T201M	probably benign	Het
Pdk4	T	C	6: 5,487,086	D320G	probably benign	Het
Pelp1	A	T	11: 70,394,726	V772D	probably damaging	Het
Ppp1r13b	A	T	12: 111,834,886	Y578N	probably damaging	Het
Ppp1r3b	A	C	8: 35,384,175	K56T	probably benign	Het
Prdm11	G	T	2: 92,989,283	H261N	probably benign	Het
Preb	T	A	5: 30,958,765	N166I	probably benign	Het
Psd3	T	C	8: 67,882,982	K681R	possibly damaging	Het
Ptgs1	G	A	2: 36,251,280	V580I	probably damaging	Het
Ptpro	T	A	6: 137,430,739	S949T	probably benign	Het
Pum2	A	G	12: 8,748,802	E973G	possibly damaging	Het
Rdh1	A	G	10: 127,760,023	D29G	probably benign	Het
Rel	A	G	11: 23,742,957	S359P	probably benign	Het
Rnf165	T	C	18: 77,466,753	D248G	possibly damaging	Het
Ryr3	T	A	2: 112,730,428	H2996L	probably benign	Het
Scarb1	C	T	5: 125,294,039	C323Y	probably damaging	Het
Scn5a	C	T	9: 119,498,127	R1309H	probably damaging	Het
Serpinb12	T	A	1: 106,953,739	V202E	probably damaging	Het
Shh	A	G	5: 28,458,300	L290P	possibly damaging	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Slc34a2	G	A	5: 53,058,372	G42R	probably benign	Het
Slc41a1	A	G	1: 131,830,823	N68D	possibly damaging	Het
Slc7a6os	A	G	8: 106,210,724	S64P	probably damaging	Het
Smc1b	A	G	15: 85,110,650		probably null	Het
Snx9	T	C	17: 5,918,476	V349A	possibly damaging	Het
Sstr1	G	T	12: 58,213,527	G312V	probably damaging	Het
Tnfsf10	A	G	3: 27,335,659	I290V	probably benign	Het
Trio	A	G	15: 27,805,684	C1717R	possibly damaging	Het
Ttbk1	T	G	17: 46,446,568	S1047R	probably damaging	Het
Ttn	T	C	2: 76,916,533	D4724G	probably benign	Het
Uba1y	T	A	Y: 825,542	N301K	probably benign	Het
Unc5c	A	G	3: 141,827,549	T853A	probably benign	Het
Vmn2r45	T	A	7: 8,483,075	I405L	probably benign	Het
Wdr37	A	T	13: 8,805,933	M458K	probably damaging	Het
Zdhhc14	A	T	17: 5,712,454	Y211F	probably benign	Het
Zfp108	G	A	7: 24,261,333	V450I	probably benign	Het
Zfp212	A	T	6: 47,930,926	R280*	probably null	Het
Zfp940	A	T	7: 29,835,617	V108E	unknown	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
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
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'- AGAGACTTCGAATACAACCGAAATG -3'
(R):5'- CGTGTCTGTTGGCCAAGAAG -3'

Sequencing Primer
(F):5'- TGCTACACATCAGACTGGTG -3'
(R):5'- CTGTTGGCCAAGAAGTTTGTACAGAG -3'

Posted On

2019-12-20