Mutagenetix > Incidental Mutations

Incidental Mutation 'R7549:Pkdrej'

584421

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: 0.102) question?

Stock #

R7549 (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 85819793 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 647 (K647N)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000064370
AA Change: K647N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: K647N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Adam1b	A	G	5: 121,501,918	C355R	probably damaging	Het
Adamtsl3	T	C	7: 82,573,909	L966P	probably damaging	Het
Aldh18a1	A	G	19: 40,564,847	C486R	probably damaging	Het
Aqp11	C	A	7: 97,738,077		probably benign	Het
Arhgap28	A	G	17: 67,871,966	L350P	probably damaging	Het
Art3	A	G	5: 92,403,655	Q291R	probably benign	Het
Asb15	A	G	6: 24,559,030		probably null	Het
Bmp8b	T	C	4: 123,105,655	I102T	possibly damaging	Het
Bsn	T	C	9: 108,114,815	D1246G	probably benign	Het
Cass4	G	A	2: 172,426,798	G267S	probably benign	Het
Cass4	G	T	2: 172,426,799	G267V	probably benign	Het
Ccr7	T	C	11: 99,145,901	Y65C	probably damaging	Het
Clstn2	A	C	9: 97,582,544	I186S	probably benign	Het
Cyp2r1	A	G	7: 114,554,644	I105T	possibly damaging	Het
Efr3a	T	A	15: 65,815,413		probably null	Het
Erg	A	C	16: 95,369,320		probably null	Het
Eya4	A	T	10: 23,111,658	V524E	probably damaging	Het
Farp1	C	A	14: 121,235,177	N241K	possibly damaging	Het
Fat1	A	T	8: 44,988,994	Y1111F	probably benign	Het
Fbn1	T	C	2: 125,344,027	E1607G	probably damaging	Het
Fbn2	A	T	18: 58,020,464	C2575*	probably null	Het
Fsip2	A	T	2: 82,993,993	D6690V	probably damaging	Het
Fzd4	T	C	7: 89,407,138	V131A	possibly damaging	Het
Gfral	T	A	9: 76,198,975	N110I	probably benign	Het
Glce	T	C	9: 62,060,993	D292G	probably damaging	Het
Gm19410	T	A	8: 35,799,346	I1051K	probably benign	Het
Gm5773	A	T	3: 93,773,016		probably benign	Het
Hcn3	A	T	3: 89,150,000	H430Q	probably null	Het
Hspa8	T	A	9: 40,802,959		probably null	Het
Ifna7	A	T	4: 88,816,427	D67V	possibly damaging	Het
Kif5c	T	A	2: 49,701,093	M319K	probably benign	Het
Klk7	G	T	7: 43,812,773		probably null	Het
Kmt2c	T	C	5: 25,414,970	K102E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrp1b	C	T	2: 40,875,122	M2897I		Het
Lysmd2	T	C	9: 75,637,237	S211P	probably damaging	Het
Magi1	T	G	6: 93,708,114	E761A	probably benign	Het
Mbd5	T	A	2: 49,251,343	I106N	probably damaging	Het
Mdc1	G	A	17: 35,848,857	A669T	probably null	Het
Mmp1b	A	G	9: 7,384,753	I265T	probably benign	Het
Mmp2	T	A	8: 92,836,966	L356Q	probably null	Het
Mroh8	A	G	2: 157,269,572	L154P	probably benign	Het
Muc13	T	C	16: 33,799,436	S185P	unknown	Het
Nuak1	T	A	10: 84,374,539	I562F	probably benign	Het
Obscn	C	A	11: 59,042,838		probably null	Het
Olfr1137	A	T	2: 87,711,771	M45K	probably damaging	Het
Olfr574	T	C	7: 102,948,591	I42T	possibly damaging	Het
Olfr827	T	C	10: 130,210,984	M49V	probably benign	Het
Pex3	T	C	10: 13,542,670	M81V	probably benign	Het
Pex5l	T	A	3: 33,082,035	I12F	probably benign	Het
Phf3	G	T	1: 30,831,475	T164N	probably benign	Het
Phpt1	G	T	2: 25,574,832	A3E	probably benign	Het
Pja2	A	T	17: 64,309,415	L162M	probably damaging	Het
Ppp2r1a	T	C	17: 20,962,682	S543P	possibly damaging	Het
Prdm13	C	A	4: 21,679,072	D473Y	probably damaging	Het
Prl6a1	A	T	13: 27,318,971	E183D	probably damaging	Het
Psmd3	C	T	11: 98,690,961	T304M	probably benign	Het
Ptpn5	C	T	7: 47,086,126		probably null	Het
Rassf6	T	G	5: 90,606,802	I206L	probably damaging	Het
Rif1	A	G	2: 52,078,507	H234R	possibly damaging	Het
Rint1	T	C	5: 23,815,704	V575A	probably benign	Het
Ros1	G	A	10: 52,145,834	T639I	probably damaging	Het
Ryr2	A	G	13: 11,737,985	F1817L	probably benign	Het
Ska1	T	C	18: 74,200,017	D110G	probably benign	Het
Slc25a41	G	A	17: 57,033,791	T227I	probably damaging	Het
Slc6a15	T	C	10: 103,389,137	S29P	probably benign	Het
Slc8a3	A	T	12: 81,314,770	I425K	probably benign	Het
Sox8	T	A	17: 25,567,961	Q256L	probably damaging	Het
Tarsl2	T	C	7: 65,647,593	V152A	probably damaging	Het
Tbx10	A	T	19: 3,996,651	T44S	probably benign	Het
Terb1	T	A	8: 104,498,084	I52F	possibly damaging	Het
Tes	AGCCGGCC	AGCC	6: 17,099,741		probably null	Het
Tgm1	A	G	14: 55,705,903	V527A	probably benign	Het
Tmed10	G	T	12: 85,344,262	Y167*	probably null	Het
Tmem165	T	G	5: 76,208,568	S318R	possibly damaging	Het
Trim9	G	T	12: 70,346,941	S76R	probably damaging	Het
Tti1	A	G	2: 158,007,168	V717A	probably damaging	Het
Vmn2r86	T	A	10: 130,446,828	I640F	probably damaging	Het
Vwf	A	G	6: 125,626,267	N860S		Het
Xirp2	A	G	2: 67,508,897	K494R	possibly damaging	Het
Zkscan4	G	A	13: 21,484,249	S319N	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	unclassified	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
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
R7956:Pkdrej	UTSW	15	85816523	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- ATCAGCTTAAGAAGGTTAGACAGACTG -3'
(R):5'- GTCACCATGAAACCGACGTC -3'

Sequencing Primer
(F):5'- TTAGACAGACTGGTTAGGATGCC -3'
(R):5'- TGAAACCGACGTCACTGTTG -3'

Posted On

2019-10-17