Mutagenetix > Incidental Mutation

Incidental Mutation 'R5541:Gpr22'

435983

Institutional Source

Beutler Lab

Gene Symbol

Gpr22

Ensembl Gene

ENSMUSG00000044067

Gene Name

G protein-coupled receptor 22

Synonyms

2900068K05Rik

MMRRC Submission

043099-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31756866-31763882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31759348 bp (GRCm39)

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
1700113H08Rik	A	G	10: 87,061,808 (GRCm39)	K86R	probably benign	Het
Abca13	T	C	11: 9,241,545 (GRCm39)	V1136A	probably benign	Het
Arfgap2	G	A	2: 91,106,114 (GRCm39)	R530H	probably benign	Het
Arhgap30	T	C	1: 171,231,707 (GRCm39)		probably null	Het
Asb7	T	C	7: 66,329,017 (GRCm39)	R8G	probably benign	Het
Bod1l	T	C	5: 41,949,276 (GRCm39)	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,925,918 (GRCm39)	E227G	probably damaging	Het
Cercam	A	G	2: 29,765,641 (GRCm39)	D261G	probably benign	Het
Chd9	A	T	8: 91,778,132 (GRCm39)	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,224,796 (GRCm39)	S126R	probably damaging	Het
Defa17	T	A	8: 22,146,565 (GRCm39)	C64S	probably damaging	Het
Depdc5	A	T	5: 33,021,973 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,076,908 (GRCm39)	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,169,971 (GRCm39)	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,036,162 (GRCm39)	Y416C	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,394,498 (GRCm39)	I106L	probably benign	Het
Flacc1	A	G	1: 58,697,588 (GRCm39)	M384T	probably benign	Het
Gm10610	A	G	7: 83,198,614 (GRCm39)		noncoding transcript	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hspg2	C	T	4: 137,247,862 (GRCm39)	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,270,136 (GRCm39)	Q2365K	probably benign	Het
Intu	A	G	3: 40,647,017 (GRCm39)		probably null	Het
Kdm1b	T	C	13: 47,232,672 (GRCm39)	M714T	probably damaging	Het
Kif21a	A	G	15: 90,852,316 (GRCm39)	M924T	probably damaging	Het
Klb	A	T	5: 65,536,577 (GRCm39)	M636L	probably benign	Het
Klrb1a	G	A	6: 128,586,699 (GRCm39)	H219Y	probably benign	Het
Macroh2a2	T	C	10: 61,583,496 (GRCm39)	I215V	probably benign	Het
Marchf10	C	T	11: 105,280,957 (GRCm39)	D443N	probably damaging	Het
Nos1	A	G	5: 118,043,459 (GRCm39)	E578G	probably damaging	Het
Or8b39	T	C	9: 37,996,419 (GRCm39)	C96R	probably damaging	Het
Or9i1	T	C	19: 13,839,328 (GRCm39)	I57T	probably benign	Het
Pard3b	A	G	1: 61,678,502 (GRCm39)	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,684,856 (GRCm39)	V441E	probably damaging	Het
Pde6g	A	T	11: 120,338,998 (GRCm39)	I64N	probably damaging	Het
Pdia4	C	T	6: 47,773,571 (GRCm39)	V593M	probably damaging	Het
Pnn	T	G	12: 59,118,716 (GRCm39)	V433G	possibly damaging	Het
Rbak	G	A	5: 143,159,745 (GRCm39)	S436F	probably damaging	Het
Rpl11	A	G	4: 135,780,043 (GRCm39)		probably benign	Het
Ryr1	G	T	7: 28,785,610 (GRCm39)	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,154,977 (GRCm39)	T661S	probably benign	Het
Smg1	T	A	7: 117,756,386 (GRCm39)		probably benign	Het
St8sia2	T	C	7: 73,616,648 (GRCm39)	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,709,105 (GRCm39)		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,535,334 (GRCm39)		noncoding transcript	Het
Taf1d	T	A	9: 15,220,146 (GRCm39)	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,284,250 (GRCm39)	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,488,341 (GRCm39)	T198I	probably benign	Het
Trappc2b	T	C	11: 51,576,796 (GRCm39)	H34R	probably benign	Het
Ube2q2	T	A	9: 55,099,163 (GRCm39)	V168E	possibly damaging	Het
Ucma	A	G	2: 4,986,141 (GRCm39)	R105G	probably benign	Het
Vmn2r97	C	T	17: 19,148,617 (GRCm39)	Q171*	probably null	Het
Wapl	T	C	14: 34,452,619 (GRCm39)		probably null	Het
Zfand4	T	A	6: 116,291,256 (GRCm39)	C397S	possibly damaging	Het
Zfhx3	A	G	8: 109,675,583 (GRCm39)	N2211S	probably damaging	Het
Zfp143	G	T	7: 109,669,687 (GRCm39)	G39C	probably benign	Het
Zfp568	T	A	7: 29,722,301 (GRCm39)	D414E	possibly damaging	Het
Zfp574	C	T	7: 24,781,375 (GRCm39)	A799V	probably damaging	Het

Other mutations in Gpr22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Gpr22	APN	12	31,758,709 (GRCm39)	unclassified	probably benign
IGL01521:Gpr22	APN	12	31,758,709 (GRCm39)	unclassified	probably benign
IGL01533:Gpr22	APN	12	31,758,709 (GRCm39)	unclassified	probably benign
IGL01585:Gpr22	APN	12	31,759,336 (GRCm39)	missense	probably benign	0.23
IGL01601:Gpr22	APN	12	31,760,044 (GRCm39)	splice site	probably benign
IGL01608:Gpr22	APN	12	31,758,779 (GRCm39)	nonsense	probably null
IGL02307:Gpr22	APN	12	31,758,739 (GRCm39)	missense	possibly damaging	0.95
IGL02440:Gpr22	APN	12	31,759,139 (GRCm39)	missense	probably damaging	0.99
IGL02863:Gpr22	APN	12	31,760,006 (GRCm39)	missense	probably benign	0.36
IGL03163:Gpr22	APN	12	31,759,171 (GRCm39)	missense	possibly damaging	0.68
R0078:Gpr22	UTSW	12	31,761,640 (GRCm39)	missense	probably benign
R0358:Gpr22	UTSW	12	31,759,981 (GRCm39)	missense	probably benign	0.03
R0395:Gpr22	UTSW	12	31,759,461 (GRCm39)	missense	possibly damaging	0.48
R0452:Gpr22	UTSW	12	31,758,793 (GRCm39)	missense	possibly damaging	0.69
R0729:Gpr22	UTSW	12	31,759,312 (GRCm39)	missense	probably damaging	1.00
R1295:Gpr22	UTSW	12	31,759,513 (GRCm39)	missense	probably benign	0.01
R1991:Gpr22	UTSW	12	31,759,202 (GRCm39)	missense	probably benign
R4201:Gpr22	UTSW	12	31,758,912 (GRCm39)	nonsense	probably null
R5203:Gpr22	UTSW	12	31,759,787 (GRCm39)	missense	probably damaging	1.00
R5505:Gpr22	UTSW	12	31,759,724 (GRCm39)	missense	probably damaging	1.00
R6218:Gpr22	UTSW	12	31,761,616 (GRCm39)	nonsense	probably null
R6844:Gpr22	UTSW	12	31,759,951 (GRCm39)	missense	probably benign
R7448:Gpr22	UTSW	12	31,759,514 (GRCm39)	missense	probably benign	0.06
R7956:Gpr22	UTSW	12	31,759,219 (GRCm39)	missense	possibly damaging	0.75
R8709:Gpr22	UTSW	12	31,759,829 (GRCm39)	missense	probably damaging	1.00
R9042:Gpr22	UTSW	12	31,759,853 (GRCm39)	missense	probably benign	0.01
R9162:Gpr22	UTSW	12	31,758,724 (GRCm39)	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