Mutagenetix > Incidental Mutations

Incidental Mutation 'R1317:Gpr156'

157581

Institutional Source

Beutler Lab

Gene Symbol

Gpr156

Ensembl Gene

ENSMUSG00000046961

Gene Name

G protein-coupled receptor 156

Synonyms

Gababl

MMRRC Submission

039383-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1317 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

37916496-38007530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37987567 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 192 (L192P)

Ref Sequence

ENSEMBL: ENSMUSP00000055958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061274]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061274
AA Change: L192P

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

SMART Domains

Protein: ENSMUSP00000055958
Gene: ENSMUSG00000046961
AA Change: L192P

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
Pfam:7tm_3	61	313	2.6e-37	PFAM
coiled coil region	353	390	N/A	INTRINSIC
low complexity region	584	593	N/A	INTRINSIC
low complexity region	635	648	N/A	INTRINSIC
low complexity region	681	716	N/A	INTRINSIC
low complexity region	729	739	N/A	INTRINSIC
low complexity region	753	766	N/A	INTRINSIC

Meta Mutation Damage Score

0.5322

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.7%
20x: 84.9%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,668,309	H1268Y	possibly damaging	Het
Afdn	A	G	17: 13,846,273	T576A	probably benign	Het
Bcl6	G	T	16: 23,977,542	A45D	probably damaging	Het
Ccdc7b	A	T	8: 129,136,646	H223L	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cryba2	G	T	1: 74,890,676		probably null	Het
Depdc1a	T	C	3: 159,523,287	C559R	probably damaging	Het
Fam20a	A	T	11: 109,677,838	N287K	probably damaging	Het
Gm5519	T	C	19: 33,824,991	Y145H	possibly damaging	Het
Gm9602	T	A	14: 4,776,499	I28N	probably damaging	Het
Gmeb1	G	A	4: 132,234,887	Q154*	probably null	Het
Hnrnpu	G	A	1: 178,330,257		probably benign	Het
Ifi209	A	G	1: 173,637,463	D53G	possibly damaging	Het
Irf6	G	A	1: 193,169,301	R400H	probably damaging	Het
Jag2	T	A	12: 112,914,501	M537L	probably benign	Het
Mid1	A	C	X: 169,986,094	N215H	probably damaging	Het
Mt1	T	C	8: 94,180,153		probably benign	Het
Myo15b	C	A	11: 115,883,634	P2024Q	probably null	Het
Nphs1	C	T	7: 30,481,831		probably benign	Het
Rbm27	G	A	18: 42,324,051		probably benign	Het
Robo2	A	G	16: 74,035,024	V256A	probably damaging	Het
Rps24	A	G	14: 24,491,762	T6A	probably damaging	Het
Scg3	G	A	9: 75,669,340	T251M	probably damaging	Het
Slc25a23	T	C	17: 57,053,888	K179E	possibly damaging	Het
Smad5	T	C	13: 56,736,071		probably benign	Het
Tom1	T	C	8: 75,051,551	V87A	probably benign	Het
Trim30b	T	A	7: 104,357,335	T105S	possibly damaging	Het
Tspan32	A	G	7: 143,017,591	M159V	probably benign	Het
Tubb1	A	G	2: 174,456,896	S124G	probably benign	Het
Zbtb1	A	G	12: 76,386,799	S520G	probably benign	Het
Zdhhc7	T	A	8: 120,084,900	H188L	probably benign	Het

Other mutations in Gpr156

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Gpr156	APN	16	37988576	missense	probably damaging	1.00
IGL01615:Gpr156	APN	16	37988591	missense	probably damaging	1.00
IGL01976:Gpr156	APN	16	37979033	missense	probably damaging	0.97
IGL02217:Gpr156	APN	16	38005311	missense	probably benign	0.19
IGL02515:Gpr156	APN	16	38005679	missense	probably damaging	0.97
IGL02596:Gpr156	APN	16	37978724	missense	probably benign	0.00
IGL03068:Gpr156	APN	16	37992129	missense	probably damaging	0.99
R0690:Gpr156	UTSW	16	37992141	missense	probably damaging	1.00
R1034:Gpr156	UTSW	16	38004726	missense	probably benign
R1133:Gpr156	UTSW	16	38005321	missense	probably benign	0.10
R1437:Gpr156	UTSW	16	37988542	missense	probably damaging	0.99
R1484:Gpr156	UTSW	16	37992196	missense	probably damaging	0.99
R1759:Gpr156	UTSW	16	37948221	missense	probably damaging	0.96
R1761:Gpr156	UTSW	16	37987567	missense	probably damaging	1.00
R1998:Gpr156	UTSW	16	37997908	missense	possibly damaging	0.57
R2067:Gpr156	UTSW	16	37978751	missense	probably benign	0.02
R2111:Gpr156	UTSW	16	37978751	missense	probably benign	0.02
R2509:Gpr156	UTSW	16	37947787	missense	probably benign	0.04
R2872:Gpr156	UTSW	16	37992223	missense	probably damaging	0.99
R2872:Gpr156	UTSW	16	37992223	missense	probably damaging	0.99
R3839:Gpr156	UTSW	16	37988600	missense	probably damaging	0.99
R4492:Gpr156	UTSW	16	37992106	missense	probably damaging	0.99
R4988:Gpr156	UTSW	16	37948215	missense	possibly damaging	0.71
R5329:Gpr156	UTSW	16	38005448	missense	probably benign	0.00
R5361:Gpr156	UTSW	16	38005725	missense	probably damaging	0.99
R5386:Gpr156	UTSW	16	37948309	missense	possibly damaging	0.93
R5531:Gpr156	UTSW	16	38005257	missense	probably benign	0.01
R5886:Gpr156	UTSW	16	37979013	missense	probably damaging	1.00
R5942:Gpr156	UTSW	16	38004902	missense	probably benign	0.04
R6345:Gpr156	UTSW	16	37987519	missense	probably damaging	1.00
R7247:Gpr156	UTSW	16	37947741	missense	probably damaging	1.00
R7353:Gpr156	UTSW	16	37992161	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCTGTGTTATACAGCCAGCATCC -3'
(R):5'- CTGTGCAAGCAAAGAGAACTGCC -3'

Sequencing Primer
(F):5'- TGTTATACAGCCAGCATCCAAAATG -3'
(R):5'- GTGGCAGCACAGCTTTTATAC -3'

Posted On

2014-02-18