Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Pkdrej'

487368

Institutional Source

Beutler Lab

Gene Symbol

Pkdrej

Ensembl Gene

ENSMUSG00000052496

Gene Name

polycystin (PKD) family receptor for egg jelly

Synonyms

MMRRC Submission

044272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85814670-85821734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85816384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1784 (T1784A)

Ref Sequence

ENSEMBL: ENSMUSP00000086352 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064370
AA Change: T1784A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086352
Gene: ENSMUSG00000052496
AA Change: T1784A

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

Meta Mutation Damage Score

0.6612

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,729,602	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,590,707	R255C	probably damaging	Het
Bbs12	A	G	3: 37,320,551	I383V	probably benign	Het
BC067074	A	G	13: 113,317,683	T88A	probably benign	Het
Cacna1h	G	A	17: 25,385,694	P1215L	probably benign	Het
Calm5	A	T	13: 3,854,491	K62*	probably null	Het
Chd8	T	A	14: 52,207,034	H398L	probably benign	Het
Dlgap2	A	T	8: 14,727,193	H146L	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dupd1	C	A	14: 21,686,690	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706	N369S	probably damaging	Het
Fam84b	T	C	15: 60,823,297	N200S	probably damaging	Het
Fer1l4	A	C	2: 156,046,987	V422G	probably damaging	Het
Fstl4	T	C	11: 53,186,303	M629T	probably benign	Het
Galnt18	A	G	7: 111,485,193	Y507H	probably damaging	Het
Gar1	C	A	3: 129,830,750		probably benign	Het
Gm19402	T	C	10: 77,690,673	T29A	probably damaging	Het
Gm826	A	G	2: 160,327,114	F92L	unknown	Het
H1f0	T	A	15: 79,028,870	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,157,465	Y186C	probably damaging	Het
Hgf	A	G	5: 16,598,161	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hsf2	T	C	10: 57,512,005	V415A	probably benign	Het
Ins2	C	A	7: 142,679,693		probably null	Het
Kel	A	T	6: 41,690,786	F89L	probably damaging	Het
Lrrc37a	T	C	11: 103,501,560	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,327,755	G397C	probably damaging	Het
Madd	A	G	2: 91,152,452		probably null	Het
Map4k4	A	G	1: 40,003,965	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,994,510	T298I	possibly damaging	Het
Mlip	G	A	9: 77,230,482	S381L	probably damaging	Het
Mpdz	A	T	4: 81,297,527	C1487S	probably benign	Het
Mtus1	A	G	8: 41,084,539	S47P	probably damaging	Het
Nek1	T	C	8: 61,028,701	S217P	probably damaging	Het
Olfr1129	T	C	2: 87,575,246	I54T	probably benign	Het
Olfr1487	C	T	19: 13,619,885	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,413,626	V585A	possibly damaging	Het
Perm1	A	G	4: 156,217,719	E240G	probably benign	Het
Pnpla8	C	T	12: 44,307,989	T644M	possibly damaging	Het
Rgs2	T	C	1: 144,004,025	K32E	probably damaging	Het
Scyl3	A	T	1: 163,950,576	M428L	probably benign	Het
Slc30a8	A	G	15: 52,335,134	D325G	probably benign	Het
Slc5a9	G	T	4: 111,883,805	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,330,696		probably null	Het
Slco3a1	C	T	7: 74,318,506	D489N	probably benign	Het
Slit3	T	C	11: 35,570,733		probably null	Het
Stk39	C	A	2: 68,392,124	G199C	probably damaging	Het
Tbx1	A	G	16: 18,583,466	F263L	probably damaging	Het
Tcf21	G	T	10: 22,819,766	N46K	probably benign	Het
Tdrd9	T	A	12: 112,068,198	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,051,487	L625P	probably damaging	Het
Tmem131	G	A	1: 36,808,306	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,148,841	K56E	possibly damaging	Het
Triml2	G	A	8: 43,187,622	V172I	probably benign	Het
Trmt44	C	A	5: 35,565,498	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,541,378	A921T	probably damaging	Het
Ube2o	T	C	11: 116,544,750	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,398,746	T22A	probably benign	Het
Ugp2	A	T	11: 21,329,815	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,842,970	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,398,811	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,702,638	*646R	probably null	Het
Zranb3	T	A	1: 127,959,745	N982Y	probably benign	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
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'- ATGATGTAGCCCTCGTCCAC -3'
(R):5'- AGCCATGGGTTTACTTATAAGCC -3'

Sequencing Primer
(F):5'- GATGTAGCCCTCGTCCACAACATAG -3'
(R):5'- TTACTTATAAGCCTCCGGGGAAAAG -3'

Posted On

2017-10-10