Mutagenetix > Incidental Mutation

Incidental Mutation 'R5887:Gpr62'

456175

Institutional Source

Beutler Lab

Gene Symbol

Gpr62

Ensembl Gene

ENSMUSG00000091735

Gene Name

G protein-coupled receptor 62

Synonyms

4933402E03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5887 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

106341161-106343137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106342814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 38 (V38E)

Ref Sequence

ENSEMBL: ENSMUSP00000129055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024260] [ENSMUST00000067218] [ENSMUST00000164834] [ENSMUST00000185507] [ENSMUST00000185779] [ENSMUST00000185874] [ENSMUST00000214252] [ENSMUST00000190430] [ENSMUST00000215656] [ENSMUST00000189099] [ENSMUST00000213156] [ENSMUST00000216379] [ENSMUST00000190428] [ENSMUST00000188396]

AlphaFold

Q80UC6

Predicted Effect

probably benign
Transcript: ENSMUST00000024260

SMART Domains

Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	4.15e-14	SMART
KH	100	171	1.47e-14	SMART
KH	240	310	3.24e-16	SMART
low complexity region	327	349	N/A	INTRINSIC
low complexity region	364	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067218

SMART Domains

Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART
Pfam:PARP_reg	176	315	8.7e-39	PFAM
Pfam:PARP	317	528	7.1e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164834
AA Change: V38E

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

SMART Domains

Protein: ENSMUSP00000129055
Gene: ENSMUSG00000091735
AA Change: V38E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	31	286	1.1e-16	PFAM
low complexity region	294	311	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185507

SMART Domains

Protein: ENSMUSP00000140660
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	2	65	2.4e-10	SMART
low complexity region	117	131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185779

SMART Domains

Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART
KH	100	171	9.3e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185874

SMART Domains

Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189882

Predicted Effect

probably benign
Transcript: ENSMUST00000214252

Predicted Effect

probably benign
Transcript: ENSMUST00000190430

SMART Domains

Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

Predicted Effect

probably benign
Transcript: ENSMUST00000189099

SMART Domains

Protein: ENSMUSP00000139991
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
Pfam:KH_1	33	77	1.3e-9	PFAM
Pfam:KH_3	36	77	3.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217405

Predicted Effect

probably benign
Transcript: ENSMUST00000216379

Predicted Effect

probably benign
Transcript: ENSMUST00000190428

SMART Domains

Protein: ENSMUSP00000139587
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
PDB:2JZX\|A	1	33	1e-8	PDB
Blast:KH	30	80	3e-26	BLAST
KH	100	167	2e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188396

SMART Domains

Protein: ENSMUSP00000139771
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
Blast:KH	1	41	2e-19	BLAST
KH	61	122	1.7e-7	SMART
low complexity region	139	161	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213752

Predicted Effect

probably benign
Transcript: ENSMUST00000213201

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,892,124 (GRCm39)	Q129*	probably null	Het
Acad8	A	T	9: 26,890,620 (GRCm39)		probably null	Het
AK157302	T	C	13: 21,679,579 (GRCm39)	I35T	possibly damaging	Het
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Calcrl	A	T	2: 84,200,841 (GRCm39)	W68R	probably damaging	Het
Cd200l1	T	A	16: 45,238,279 (GRCm39)	L178F	probably damaging	Het
Cd59a	A	G	2: 103,934,546 (GRCm39)	R5G	probably damaging	Het
Chl1	C	T	6: 103,694,565 (GRCm39)	A1091V	probably benign	Het
Copg1	T	C	6: 87,879,279 (GRCm39)	F442L	probably damaging	Het
Creld1	T	C	6: 113,469,860 (GRCm39)	*421Q	probably null	Het
Crocc2	T	A	1: 93,121,838 (GRCm39)	H662Q	possibly damaging	Het
Csf2ra	G	A	19: 61,215,766 (GRCm39)	A13V	possibly damaging	Het
Cul3	T	C	1: 80,254,139 (GRCm39)	T546A	possibly damaging	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Dock6	T	A	9: 21,731,690 (GRCm39)	H1173L	probably damaging	Het
Dpysl4	T	C	7: 138,676,192 (GRCm39)	I328T	possibly damaging	Het
Dspp	G	A	5: 104,323,321 (GRCm39)	G155R	probably damaging	Het
Fbxo33	A	T	12: 59,251,545 (GRCm39)	C57*	probably null	Het
Frrs1	T	A	3: 116,690,399 (GRCm39)	V14D	probably benign	Het
Gm13199	C	T	2: 5,867,113 (GRCm39)	G96S	unknown	Het
Gpr155	A	T	2: 73,174,062 (GRCm39)	C754*	probably null	Het
Kcnt2	C	A	1: 140,353,104 (GRCm39)	P271H	probably damaging	Het
Kpna3	C	T	14: 61,640,461 (GRCm39)	V34I	probably benign	Het
Lamb1	C	T	12: 31,316,863 (GRCm39)	Q71*	probably null	Het
Lipk	T	C	19: 34,016,507 (GRCm39)	I245T	possibly damaging	Het
Lrp1b	T	G	2: 40,711,719 (GRCm39)	N3281T	possibly damaging	Het
Lrp5	A	C	19: 3,654,094 (GRCm39)	I1111S	probably benign	Het
Mmrn1	T	C	6: 60,964,058 (GRCm39)	V1020A	probably benign	Het
Or4c107	G	A	2: 88,789,098 (GRCm39)	C96Y	possibly damaging	Het
Or8b48	G	A	9: 38,493,080 (GRCm39)	C169Y	probably damaging	Het
Or8g34	T	C	9: 39,372,787 (GRCm39)	L17P	probably damaging	Het
Pcdha7	A	T	18: 37,108,960 (GRCm39)	T662S	probably damaging	Het
Pcdhga6	A	G	18: 37,841,612 (GRCm39)	D444G	probably damaging	Het
Pkd2	T	G	5: 104,646,405 (GRCm39)	D737E	probably damaging	Het
Plcd4	C	T	1: 74,590,249 (GRCm39)	R161W	probably damaging	Het
Prpf8	A	G	11: 75,391,734 (GRCm39)	Y1494C	possibly damaging	Het
Rad17	A	C	13: 100,770,369 (GRCm39)		probably null	Het
Rbm17	A	T	2: 11,590,485 (GRCm39)	F390Y	probably damaging	Het
Rhod	A	T	19: 4,489,315 (GRCm39)	L22Q	probably damaging	Het
Serpina1f	T	C	12: 103,656,046 (GRCm39)	D394G	possibly damaging	Het
Serpina1f	G	A	12: 103,659,890 (GRCm39)	Q131*	probably null	Het
Spocd1	A	T	4: 129,842,752 (GRCm39)	S56C	probably damaging	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Tasor	T	A	14: 27,188,254 (GRCm39)	L900*	probably null	Het
Tbx18	T	C	9: 87,595,566 (GRCm39)	D336G	possibly damaging	Het
Tfg	A	T	16: 56,514,779 (GRCm39)	Y135*	probably null	Het
Tjp2	A	G	19: 24,073,963 (GRCm39)	L1108P	probably benign	Het
Tmem150c	C	A	5: 100,243,524 (GRCm39)	V8L	probably benign	Het
Ttn	A	T	2: 76,746,789 (GRCm39)	H4753Q	probably benign	Het
Tyw1	T	A	5: 130,354,540 (GRCm39)	I589N	probably damaging	Het
Usp40	C	T	1: 87,927,592 (GRCm39)	R139Q	probably damaging	Het
Zgrf1	A	G	3: 127,378,414 (GRCm39)	Y174C	probably damaging	Het

Other mutations in Gpr62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2851:Gpr62	UTSW	9	106,341,911 (GRCm39)	missense	probably benign	0.00
R2853:Gpr62	UTSW	9	106,341,911 (GRCm39)	missense	probably benign	0.00
R3982:Gpr62	UTSW	9	106,342,085 (GRCm39)	missense	probably benign	0.00
R7159:Gpr62	UTSW	9	106,342,641 (GRCm39)	missense	probably damaging	0.99
Z1177:Gpr62	UTSW	9	106,342,688 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATGCACTATGAGGCGGTAGC -3'
(R):5'- TGTCTTCAAAGGGGAGCATCAG -3'

Sequencing Primer
(F):5'- AGCGTGCATGCGGGGAG -3'
(R):5'- ATCTCCACAGAGGCTGAGTG -3'

Posted On

2017-02-15