Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Gpr1'

392390

Institutional Source

Beutler Lab

Gene Symbol

Gpr1

Ensembl Gene

ENSMUSG00000046856

Gene Name

G protein-coupled receptor 1

Synonyms

MMRRC Submission

042690-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63182691-63214543 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63183167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 303 (V303A)

Ref Sequence

ENSEMBL: ENSMUSP00000051417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027108] [ENSMUST00000050536] [ENSMUST00000129339] [ENSMUST00000135877] [ENSMUST00000142062] [ENSMUST00000174890] [ENSMUST00000188524]

AlphaFold

Q8K087

Predicted Effect

probably benign
Transcript: ENSMUST00000027108

Predicted Effect

probably damaging
Transcript: ENSMUST00000050536
AA Change: V303A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856
AA Change: V303A

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	302	3.9e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126469

Predicted Effect

probably benign
Transcript: ENSMUST00000126795

SMART Domains

Protein: ENSMUSP00000134341
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
SCOP:d1aw9_1	4	62	8e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129339

SMART Domains

Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
EF-1_beta_acid	103	130	2.53e-4	SMART
EF1_GNE	139	225	3.86e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135877

SMART Domains

Protein: ENSMUSP00000137671
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148553

Predicted Effect

probably benign
Transcript: ENSMUST00000174890

SMART Domains

Protein: ENSMUSP00000133545
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
Blast:WHEP	3	64	3e-6	BLAST
SCOP:d1aw9_1	7	65	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188524

SMART Domains

Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
EF-1_beta_acid	62	89	1.2e-8	SMART
EF1_GNE	98	184	2.9e-48	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199062

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810006K23Rik	A	G	5: 124,338,891	N83D	probably damaging	Het
Aox4	C	T	1: 58,240,778	R518C	probably damaging	Het
Apbb2	A	T	5: 66,312,249		probably null	Het
Arhgap45	C	T	10: 80,021,428	P254S	probably benign	Het
Arl4c	T	C	1: 88,701,600	D22G	probably damaging	Het
Asxl1	A	G	2: 153,400,955	T1142A	probably benign	Het
BC035044	T	C	6: 128,884,986		probably benign	Het
Bmp4	T	C	14: 46,384,001	N362S	probably damaging	Het
Cbll1	G	T	12: 31,487,913	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,885	T401S	probably benign	Het
Cps1	A	T	1: 67,206,793	M1148L	probably benign	Het
Crybg1	T	C	10: 43,997,836	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,810,702	S173P	probably damaging	Het
D3Ertd254e	G	A	3: 36,162,665	C55Y	possibly damaging	Het
D6Ertd527e	A	T	6: 87,111,811	I319F	unknown	Het
Dchs1	A	T	7: 105,772,177	H345Q	probably benign	Het
Ddx50	A	T	10: 62,640,861	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180		probably null	Het
Dnajb5	G	A	4: 42,956,639	D109N	possibly damaging	Het
Dner	A	T	1: 84,405,970	N564K	probably damaging	Het
Fam234b	T	C	6: 135,209,284	S97P	probably benign	Het
Fam53b	G	A	7: 132,715,955	R60*	probably null	Het
Fmo3	T	G	1: 162,963,977	K244Q	probably benign	Het
Gm12800	T	C	4: 101,909,239	F40S	probably damaging	Het
Golim4	A	G	3: 75,903,272	I192T	possibly damaging	Het
Gprin1	T	C	13: 54,739,763	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,003,626	V443D	probably damaging	Het
H2afy	C	G	13: 56,096,123		probably null	Het
Hmgcs2	T	C	3: 98,280,470		probably benign	Het
Ide	T	A	19: 37,314,984	I271L	unknown	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kif14	A	G	1: 136,516,403	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,201,423		probably null	Het
Lhx6	T	C	2: 36,094,210		probably null	Het
Lrp2	C	T	2: 69,489,158	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,659,304	K142R	probably damaging	Het
Mrpl2	G	A	17: 46,650,038	R286Q	probably benign	Het
Nacad	T	A	11: 6,598,528	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,298,105	I275T	possibly damaging	Het
Neb	A	C	2: 52,226,570	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,822,108	A83V	probably damaging	Het
Nos3	A	G	5: 24,371,627	D418G	probably damaging	Het
Olfr1126	A	T	2: 87,457,794	M210L	probably benign	Het
Olfr353	T	A	2: 36,890,044	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,565,154	T764A	probably damaging	Het
Plppr3	G	T	10: 79,865,386	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,746,945	I191T	possibly damaging	Het
Rab11fip1	T	C	8: 27,156,374	K225E	probably damaging	Het
Rara	A	T	11: 98,966,359	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,149,773	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,471,236	F399V	probably benign	Het
Slc7a4	T	C	16: 17,575,618	T106A	probably damaging	Het
Srcap	G	A	7: 127,530,623	G539D	probably damaging	Het
Stab1	C	T	14: 31,148,017		probably null	Het

Other mutations in Gpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Gpr1	APN	1	63183338	missense	probably damaging	0.99
IGL01086:Gpr1	APN	1	63183491	missense	probably benign	0.01
IGL01490:Gpr1	APN	1	63183296	missense	probably damaging	0.99
IGL02409:Gpr1	APN	1	63183716	missense	probably damaging	1.00
IGL02426:Gpr1	APN	1	63183668	missense	probably damaging	0.97
R0218:Gpr1	UTSW	1	63183531	missense	probably benign	0.25
R2088:Gpr1	UTSW	1	63183652	splice site	probably null
R2166:Gpr1	UTSW	1	63183948	missense	probably benign
R2895:Gpr1	UTSW	1	63183162	missense	probably benign	0.24
R2896:Gpr1	UTSW	1	63183162	missense	probably benign	0.24
R5131:Gpr1	UTSW	1	63183681	missense	probably damaging	1.00
R5471:Gpr1	UTSW	1	63183899	missense	probably damaging	1.00
R5652:Gpr1	UTSW	1	63183467	missense	probably benign	0.00
R6187:Gpr1	UTSW	1	63183275	missense	probably damaging	1.00
R7956:Gpr1	UTSW	1	63183506	missense	probably damaging	0.99
R8953:Gpr1	UTSW	1	63183113	missense	probably damaging	1.00
R9031:Gpr1	UTSW	1	63183986	missense	probably benign	0.03
X0060:Gpr1	UTSW	1	63183059	missense	probably benign	0.02
Z1177:Gpr1	UTSW	1	63183639	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGTGTGGATCAGAATGCAACC -3'
(R):5'- GATCCTGTCTGTGGTCATTGCC -3'

Sequencing Primer
(F):5'- GGCTCACATGAAAACTTTGCACTG -3'
(R):5'- GCCTTCTTGGTTTGCTGGACC -3'

Posted On

2016-06-15