Mutagenetix > Incidental Mutation

Incidental Mutation 'R3982:Gpr62'

426250

Institutional Source

Beutler Lab

Gene Symbol

Gpr62

Ensembl Gene

ENSMUSG00000091735

Gene Name

G protein-coupled receptor 62

Synonyms

4933402E03Rik

MMRRC Submission

041608-MU

Accession Numbers

Essential gene?

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

Stock #

R3982 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106341161-106343137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106342085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 281 (A281V)

Ref Sequence

ENSEMBL: ENSMUSP00000129055 (fasta)

Gene Model

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

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: ENSMUST00000164834
AA Change: A281V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129055
Gene: ENSMUSG00000091735
AA Change: A281V

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

noncoding transcript
Transcript: ENSMUST00000185854

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: ENSMUST00000190799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188448

Predicted Effect

probably benign
Transcript: ENSMUST00000213156

Predicted Effect

probably benign
Transcript: ENSMUST00000214252

Predicted Effect

probably benign
Transcript: ENSMUST00000213752

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: ENSMUST00000213201

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: ENSMUST00000216379

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

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: ENSMUST00000190430

SMART Domains

Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217405

Meta Mutation Damage Score

0.0747

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Adgrg6	T	C	10: 14,324,589 (GRCm39)	N445S	probably benign	Het
Adgrl3	A	G	5: 81,842,373 (GRCm39)	T902A	possibly damaging	Het
Atf4	T	C	15: 80,141,069 (GRCm39)	V153A	probably benign	Het
Bsn	T	C	9: 107,984,365 (GRCm39)	T3230A	unknown	Het
Cadps2	A	G	6: 23,263,530 (GRCm39)		probably benign	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Cth	A	T	3: 157,619,334 (GRCm39)	L163*	probably null	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Frmd6	T	C	12: 70,934,608 (GRCm39)	L269P	probably damaging	Het
Hapln1	T	A	13: 89,753,560 (GRCm39)	F242Y	probably benign	Het
Ighv1-39	A	T	12: 114,878,251 (GRCm39)	S107T	possibly damaging	Het
Itga8	A	G	2: 12,305,774 (GRCm39)	V72A	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Klre1	T	A	6: 129,560,101 (GRCm39)	C124*	probably null	Het
Lrrk2	T	A	15: 91,593,487 (GRCm39)	M482K	probably benign	Het
Man2b2	T	C	5: 36,971,164 (GRCm39)	N734S	probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mdga1	C	A	17: 30,150,238 (GRCm39)	A125S	unknown	Het
Mmd2	T	C	5: 142,550,554 (GRCm39)	Y228C	probably damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Nifk	T	A	1: 118,257,282 (GRCm39)	S138R	possibly damaging	Het
Nlrp4b	T	C	7: 10,448,358 (GRCm39)	V187A	possibly damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pigo	A	T	4: 43,023,482 (GRCm39)	S231T	probably benign	Het
Pik3cb	G	A	9: 98,928,654 (GRCm39)	T867M	probably benign	Het
Plag1	A	T	4: 3,904,055 (GRCm39)	S379T	probably damaging	Het
Polg2	G	A	11: 106,670,028 (GRCm39)	R81*	probably null	Het
Prpf4b	C	T	13: 35,068,196 (GRCm39)		probably benign	Het
Ptprq	T	A	10: 107,379,257 (GRCm39)	I1981F	probably damaging	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Usp24	G	A	4: 106,245,080 (GRCm39)	E1307K	probably benign	Het
Vmn2r115	T	A	17: 23,578,948 (GRCm39)	M807K	probably damaging	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly 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
R5887:Gpr62	UTSW	9	106,342,814 (GRCm39)	missense	probably damaging	1.00
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'- CTGTCTTGCCAATTCTCGGG -3'
(R):5'- TCCGACTCTCTAGACAGTCG -3'

Sequencing Primer
(F):5'- TCTGGTGCCTCAGAAGGG -3'
(R):5'- GACTCTCTAGACAGTCGCCTCTC -3'

Posted On

2016-08-31