Mutagenetix > Incidental Mutations

Incidental Mutation 'R5541:Gpr22'

435983

Institutional Source

Beutler Lab

Gene Symbol

Gpr22

Ensembl Gene

ENSMUSG00000044067

Gene Name

G protein-coupled receptor 22

Synonyms

MMRRC Submission

043099-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31706867-31713947 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31709349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 258 (F258S)

Ref Sequence

ENSEMBL: ENSMUSP00000056125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036862] [ENSMUST00000057783] [ENSMUST00000174480] [ENSMUST00000176710]

AlphaFold

Q8BZL4

Predicted Effect

probably benign
Transcript: ENSMUST00000036862

SMART Domains

Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
Pfam:COG5	35	158	3.8e-37	PFAM
Pfam:Vps51	37	120	1.8e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057783
AA Change: F258S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056125
Gene: ENSMUSG00000044067
AA Change: F258S

Domain	Start	End	E-Value	Type
low complexity region	58	64	N/A	INTRINSIC
Pfam:7tm_1	95	403	2.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174480

SMART Domains

Protein: ENSMUSP00000134674
Gene: ENSMUSG00000044067

Domain	Start	End	E-Value	Type
low complexity region	21	27	N/A	INTRINSIC
Pfam:7tm_1	58	186	3.3e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176710
AA Change: F221S

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134839
Gene: ENSMUSG00000044067
AA Change: F221S

Domain	Start	End	E-Value	Type
low complexity region	21	27	N/A	INTRINSIC
Pfam:7tm_1	58	366	1.4e-26	PFAM

Meta Mutation Damage Score

0.2463

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased response to aortic banding including decreased fractional shortening and decompensated heart failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545	V1136A	probably benign	Het
Als2cr12	A	G	1: 58,658,429	M384T	probably benign	Het
Arfgap2	G	A	2: 91,275,769	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139		probably null	Het
Asb7	T	C	7: 66,679,269	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629		probably benign	Het
Dhx29	A	G	13: 112,940,374	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336	Y416C	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,565,430	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406		noncoding transcript	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587		probably null	Het
Kdm1b	T	C	13: 47,079,196	M714T	probably damaging	Het
Kif21a	A	G	15: 90,968,113	M924T	probably damaging	Het
Klb	A	T	5: 65,379,234	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736	H219Y	probably benign	Het
March10	C	T	11: 105,390,131	D443N	probably damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172	I64N	probably damaging	Het
Pdia4	C	T	6: 47,796,637	V593M	probably damaging	Het
Pnn	T	G	12: 59,071,930	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732		probably benign	Het
Ryr1	G	T	7: 29,086,185	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163		probably benign	Het
St8sia2	T	C	7: 73,966,900	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,669,523	T198I	probably benign	Het
Ube2q2	T	A	9: 55,191,879	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662		probably null	Het
Zfand4	T	A	6: 116,314,295	C397S	possibly damaging	Het
Zfhx3	A	G	8: 108,948,951	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480	G39C	probably benign	Het
Zfp568	T	A	7: 30,022,876	D414E	possibly damaging	Het
Zfp574	C	T	7: 25,081,950	A799V	probably damaging	Het

Other mutations in Gpr22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Gpr22	APN	12	31708710	unclassified	probably benign
IGL01521:Gpr22	APN	12	31708710	unclassified	probably benign
IGL01533:Gpr22	APN	12	31708710	unclassified	probably benign
IGL01585:Gpr22	APN	12	31709337	missense	probably benign	0.23
IGL01601:Gpr22	APN	12	31710045	splice site	probably benign
IGL01608:Gpr22	APN	12	31708780	nonsense	probably null
IGL02307:Gpr22	APN	12	31708740	missense	possibly damaging	0.95
IGL02440:Gpr22	APN	12	31709140	missense	probably damaging	0.99
IGL02863:Gpr22	APN	12	31710007	missense	probably benign	0.36
IGL03163:Gpr22	APN	12	31709172	missense	possibly damaging	0.68
R0078:Gpr22	UTSW	12	31711641	missense	probably benign
R0358:Gpr22	UTSW	12	31709982	missense	probably benign	0.03
R0395:Gpr22	UTSW	12	31709462	missense	possibly damaging	0.48
R0452:Gpr22	UTSW	12	31708794	missense	possibly damaging	0.69
R0729:Gpr22	UTSW	12	31709313	missense	probably damaging	1.00
R1295:Gpr22	UTSW	12	31709514	missense	probably benign	0.01
R1991:Gpr22	UTSW	12	31709203	missense	probably benign
R4201:Gpr22	UTSW	12	31708913	nonsense	probably null
R5203:Gpr22	UTSW	12	31709788	missense	probably damaging	1.00
R5505:Gpr22	UTSW	12	31709725	missense	probably damaging	1.00
R6218:Gpr22	UTSW	12	31711617	nonsense	probably null
R6844:Gpr22	UTSW	12	31709952	missense	probably benign
R7448:Gpr22	UTSW	12	31709515	missense	probably benign	0.06
R7956:Gpr22	UTSW	12	31709220	missense	possibly damaging	0.75
R8709:Gpr22	UTSW	12	31709830	missense	probably damaging	1.00
R9042:Gpr22	UTSW	12	31709854	missense	probably benign	0.01
R9162:Gpr22	UTSW	12	31708725	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGAGGGCAATTATTACAGAAACTG -3'
(R):5'- TCTGACAATGGGCAGAGCTG -3'

Sequencing Primer
(F):5'- TTACAGAAACTGAAGTTCTCACAC -3'
(R):5'- GCAGAGCTGTAATGCTAATGACATCC -3'

Posted On

2016-10-24