Mutagenetix > Incidental Mutations

Incidental Mutation 'R8136:Gpr65'

632268

Institutional Source

Beutler Lab

Gene Symbol

Gpr65

Ensembl Gene

ENSMUSG00000021886

Gene Name

G-protein coupled receptor 65

Synonyms

TDAG8, Gpcr25, Dig1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98268635-98276644 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98275156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 23 (Y23H)

Ref Sequence

ENSEMBL: ENSMUSP00000074581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075072]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075072
AA Change: Y23H

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

SMART Domains

Protein: ENSMUSP00000074581
Gene: ENSMUSG00000021886
AA Change: Y23H

Domain	Start	End	E-Value	Type
Pfam:7tm_1	33	290	1.9e-41	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.7%

Validation Efficiency

98% (40/41)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice have thymocytes and splenocytes that are insensitive to pH-dependent cAMP production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,248,397	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107		probably null	Het
Bmpr1b	A	G	3: 141,856,382	I348T	probably damaging	Het
Btnl1	T	A	17: 34,380,040		probably null	Het
Col27a1	T	A	4: 63,283,953	D960E	probably benign	Het
Crygn	G	T	5: 24,751,092	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,701,206	I450T	probably benign	Het
Emc2	A	G	15: 43,511,806	Y233C	probably benign	Het
Esyt2	C	A	12: 116,363,459	T549K	probably benign	Het
Fam71e1	T	C	7: 44,500,280	F142L	probably damaging	Het
Gatm	T	C	2: 122,595,537	D411G	probably damaging	Het
Itpr1	A	G	6: 108,438,360	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Mcm9	A	G	10: 53,611,343	*543Q	probably null	Het
Mfsd2a	A	T	4: 122,951,867	C164S	probably benign	Het
Mta1	C	A	12: 113,131,678	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,557,253	F99V	probably benign	Het
Notch2	G	A	3: 98,124,221	C1137Y	probably damaging	Het
Olfr575	A	T	7: 102,955,241	M120K	probably damaging	Het
Pcnx	A	G	12: 81,918,006	T316A	probably benign	Het
Phf11a	A	G	14: 59,277,569	V221A	probably benign	Het
Pigb	A	G	9: 73,022,320	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,181,020	Y110*	probably null	Het
Sdk2	G	A	11: 113,851,713	T790M	probably damaging	Het
Slc22a2	C	T	17: 12,606,030	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,913,281		probably null	Het
Tmem189	A	C	2: 167,644,959	Y167D	probably benign	Het
Tnn	T	A	1: 160,107,060	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,264,717	Y49*	probably null	Het
Ttc37	A	G	13: 76,113,103	K131R	probably benign	Het
Ubr3	T	C	2: 70,021,179	I1827T	probably damaging	Het
Vrtn	C	T	12: 84,650,035	R520C	probably damaging	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Wls	C	A	3: 159,873,124	Q108K	probably damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp39	A	T	11: 58,891,402	V178D	probably damaging	Het
Zfp777	C	A	6: 48,044,625	R21L	probably benign	Het

Other mutations in Gpr65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Gpr65	APN	12	98275556	missense	probably damaging	1.00
IGL00717:Gpr65	APN	12	98276055	missense	probably benign	0.09
IGL01643:Gpr65	APN	12	98275754	missense	probably damaging	1.00
IGL01942:Gpr65	APN	12	98275715	missense	possibly damaging	0.93
IGL02023:Gpr65	APN	12	98275868	missense	probably benign	0.25
IGL02803:Gpr65	APN	12	98275210	missense	probably damaging	1.00
R1343:Gpr65	UTSW	12	98275629	missense	probably benign	0.00
R1520:Gpr65	UTSW	12	98275175	missense	probably benign	0.01
R1771:Gpr65	UTSW	12	98276000	missense	probably damaging	0.96
R1812:Gpr65	UTSW	12	98275742	missense	probably damaging	1.00
R2261:Gpr65	UTSW	12	98275235	missense	probably damaging	1.00
R2263:Gpr65	UTSW	12	98275235	missense	probably damaging	1.00
R5720:Gpr65	UTSW	12	98275102	missense	probably damaging	1.00
R7458:Gpr65	UTSW	12	98276065	missense	probably damaging	0.99
R9376:Gpr65	UTSW	12	98275264	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACTCTCTAAATGCATGGATG -3'
(R):5'- CTTTGCACAAGGTGGGAGAG -3'

Sequencing Primer
(F):5'- CACTCTCTAAATGCATGGATGAACTC -3'
(R):5'- GAGAAAGTCCAGTTGTCTTTATTCC -3'

Posted On

2020-06-30