Mutagenetix > Incidental Mutation

Incidental Mutation 'R3854:Gpr82'

276089

Institutional Source

Beutler Lab

Gene Symbol

Gpr82

Ensembl Gene

ENSMUSG00000047678

Gene Name

G protein-coupled receptor 82

Synonyms

MMRRC Submission

041605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3854 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

13527602-13533672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13531577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 42 (T42S)

Ref Sequence

ENSEMBL: ENSMUSP00000062535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000053659] [ENSMUST00000115436] [ENSMUST00000115438] [ENSMUST00000124710] [ENSMUST00000156096]

AlphaFold

Q8BZR0

Predicted Effect

probably benign
Transcript: ENSMUST00000033321

SMART Domains

Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
S_TKc	12	276	1.22e-100	SMART
L27	340	395	8.68e-14	SMART
L27	399	452	1.67e-15	SMART
PDZ	493	565	4.01e-14	SMART
SH3	597	663	1.75e-12	SMART
low complexity region	685	697	N/A	INTRINSIC
GuKc	720	896	7.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000053659
AA Change: T42S

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062535
Gene: ENSMUSG00000047678
AA Change: T42S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	32	310	5.8e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115436

SMART Domains

Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
S_TKc	12	276	1.22e-100	SMART
L27	340	395	8.68e-14	SMART
L27	399	452	1.67e-15	SMART
PDZ	493	565	4.01e-14	SMART
SH3	586	652	1.75e-12	SMART
low complexity region	674	686	N/A	INTRINSIC
GuKc	709	885	7.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115438

SMART Domains

Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
S_TKc	12	276	1.22e-100	SMART
L27	340	395	8.68e-14	SMART
L27	399	452	1.67e-15	SMART
PDZ	493	565	4.01e-14	SMART
SH3	609	675	1.75e-12	SMART
low complexity region	697	709	N/A	INTRINSIC
GuKc	732	908	7.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124710

SMART Domains

Protein: ENSMUSP00000119584
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
Pfam:Pkinase	12	155	9.7e-33	PFAM
Pfam:Pkinase_Tyr	12	155	6.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128012

SMART Domains

Protein: ENSMUSP00000114187
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	137	1.1e-32	PFAM
Pfam:Pkinase_Tyr	2	134	2.3e-10	PFAM
L27	207	249	1.81e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152358

Predicted Effect

probably benign
Transcript: ENSMUST00000156096

SMART Domains

Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
S_TKc	1	250	2.71e-84	SMART
L27	314	369	8.68e-14	SMART
L27	373	426	1.67e-15	SMART
PDZ	467	539	4.01e-14	SMART
SH3	560	626	1.75e-12	SMART
low complexity region	648	660	N/A	INTRINSIC
GuKc	683	859	7.41e-78	SMART

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.2%
20x: 94.2%

Validation Efficiency

96% (46/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions of this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	C	2: 58,352,946 (GRCm39)	K338R	probably damaging	Het
Adar	C	T	3: 89,643,565 (GRCm39)	P482L	probably damaging	Het
Adh5	A	G	3: 138,156,776 (GRCm39)	D154G	probably benign	Het
Apoa1	A	G	9: 46,141,521 (GRCm39)	S206G	probably benign	Het
Aspdh	T	C	7: 44,115,613 (GRCm39)	V5A	possibly damaging	Het
Bend3	AAGGACCA	AA	10: 43,386,713 (GRCm39)		probably benign	Het
C2cd3	A	T	7: 100,103,808 (GRCm39)		probably null	Het
Ccdc87	A	G	19: 4,889,546 (GRCm39)	I13V	probably benign	Het
Cd163	A	T	6: 124,288,525 (GRCm39)	N319Y	probably damaging	Het
Cdc42bpa	A	G	1: 179,983,543 (GRCm39)		probably benign	Het
Ceacam2	T	C	7: 25,238,227 (GRCm39)	S66G	probably benign	Het
Cep131	G	A	11: 119,958,011 (GRCm39)	R772*	probably null	Het
Clhc1	T	C	11: 29,521,789 (GRCm39)	C441R	probably damaging	Het
Clstn2	G	A	9: 97,345,648 (GRCm39)	Q567*	probably null	Het
Cops7a	C	T	6: 124,936,795 (GRCm39)	R252H	probably damaging	Het
Daam2	T	C	17: 49,765,624 (GRCm39)	N1093S	probably benign	Het
Dnajc16	G	A	4: 141,490,964 (GRCm39)	R729*	probably null	Het
Eml6	C	T	11: 29,699,905 (GRCm39)	A1744T	possibly damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fbll1	T	A	11: 35,688,526 (GRCm39)	T246S	probably benign	Het
Fbln2	A	T	6: 91,243,353 (GRCm39)	T910S	probably damaging	Het
Fcna	C	T	2: 25,517,784 (GRCm39)	G22D	possibly damaging	Het
Gadl1	G	T	9: 115,835,732 (GRCm39)	E387*	probably null	Het
Gm5592	G	A	7: 40,807,259 (GRCm39)		probably benign	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Lbr	G	A	1: 181,659,280 (GRCm39)	T167I	probably benign	Het
Mdh1	C	T	11: 21,509,281 (GRCm39)	V234I	probably benign	Het
Muc2	A	G	7: 141,308,081 (GRCm39)	H420R	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nrcam	G	T	12: 44,622,667 (GRCm39)	A938S	probably benign	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Or10z1	T	A	1: 174,077,716 (GRCm39)	Y259F	probably damaging	Het
Or1p1c	A	T	11: 74,161,105 (GRCm39)	K297*	probably null	Het
Or51r1	T	G	7: 102,228,227 (GRCm39)	L175R	probably damaging	Het
Pgap3	T	C	11: 98,281,638 (GRCm39)	T187A	possibly damaging	Het
Pus10	T	C	11: 23,653,003 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,371,765 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,752,240 (GRCm39)		probably benign	Het
Serpinb9e	A	G	13: 33,439,137 (GRCm39)	I188V	probably benign	Het
Shcbp1l	A	T	1: 153,328,190 (GRCm39)	I634F	probably damaging	Het
Slc6a16	T	A	7: 44,917,596 (GRCm39)	C485S	probably damaging	Het
Vmn1r215	A	C	13: 23,260,058 (GRCm39)	M33L	probably benign	Het
Vps26c	A	G	16: 94,311,665 (GRCm39)	F95L	probably benign	Het

Other mutations in Gpr82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0654:Gpr82	UTSW	X	13,531,829 (GRCm39)	missense	probably benign	0.02
R0656:Gpr82	UTSW	X	13,531,829 (GRCm39)	missense	probably benign	0.02
R2102:Gpr82	UTSW	X	13,532,274 (GRCm39)	missense	probably benign	0.02
R3856:Gpr82	UTSW	X	13,531,577 (GRCm39)	missense	probably benign	0.21
R4052:Gpr82	UTSW	X	13,531,898 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATAATTCCATTCTAGCTCCTGTGAC -3'
(R):5'- GTAGCATAGCGGCTTATGGC -3'

Sequencing Primer
(F):5'- TCTAGCTCCTGTGACAAAAATCAAG -3'
(R):5'- ATAGCGGCTTATGGCAATCC -3'

Posted On

2015-04-06