Mutagenetix > Incidental Mutations

Incidental Mutation 'R2208:Gpr33'

236790

Institutional Source

Beutler Lab

Gene Symbol

Gpr33

Ensembl Gene

ENSMUSG00000035148

Gene Name

G protein-coupled receptor 33

Synonyms

MMRRC Submission

040210-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52023003-52028063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52023453 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 268 (V268I)

Ref Sequence

ENSEMBL: ENSMUSP00000048059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040161]

Predicted Effect

probably benign
Transcript: ENSMUST00000040161
AA Change: V268I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000048059
Gene: ENSMUSG00000035148
AA Change: V268I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	46	299	3.6e-32	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,194,403	N883K	probably benign	Het
Ahnak	T	C	19: 9,017,732	V5460A	probably benign	Het
Bco2	A	G	9: 50,533,455	V517A	probably damaging	Het
Brca2	T	A	5: 150,532,344	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,107,960		probably null	Het
Ccdc39	A	G	3: 33,841,178	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,336,029	H198L	probably damaging	Het
Cdc73	T	A	1: 143,609,382	E516V	probably damaging	Het
Cep170b	T	A	12: 112,738,985	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,678,099	L56P	probably damaging	Het
Clec4d	T	A	6: 123,265,355	V22D	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,556,936	L141P	probably damaging	Het
Cyp4x1	G	T	4: 115,126,594	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Enpp7	T	C	11: 118,988,762		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fitm2	T	A	2: 163,472,684		probably benign	Het
Gm14139	T	A	2: 150,193,145	V462E	probably benign	Het
Gng10	T	A	4: 59,035,314	I26N	possibly damaging	Het
Hmcn2	G	A	2: 31,380,297	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Krt36	C	T	11: 100,102,939	V358M	probably damaging	Het
Lmod3	T	C	6: 97,247,877	I328V	probably benign	Het
Lrp8	T	C	4: 107,855,790	V580A	probably damaging	Het
Masp2	T	C	4: 148,614,415	I651T	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Msi2	A	T	11: 88,590,108	S118T	probably damaging	Het
Muc19	T	C	15: 91,871,549		noncoding transcript	Het
Nabp1	G	A	1: 51,477,614	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nup88	T	C	11: 70,965,719	D196G	probably damaging	Het
Olfr747	T	C	14: 50,681,563	I24V	probably benign	Het
Pax1	T	A	2: 147,365,802	I198N	probably damaging	Het
Pde3a	A	G	6: 141,250,347	E253G	probably damaging	Het
Phldb1	C	T	9: 44,696,131	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,999,639	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,799,264		probably null	Het
Ptprf	A	T	4: 118,269,172		probably benign	Het
Rfx7	A	G	9: 72,617,964	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,232	T691A	probably benign	Het
Rundc3a	A	T	11: 102,402,088	S436C	probably damaging	Het
Sntb1	T	C	15: 55,906,318	T92A	possibly damaging	Het
Tarsl2	T	C	7: 65,682,848	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,150,792		probably null	Het
Tep1	T	C	14: 50,866,864	Q191R	probably benign	Het
Tmc2	C	A	2: 130,214,563		probably null	Het
Tns1	A	C	1: 74,079,240	I77S	probably damaging	Het
Trpd52l3	T	C	19: 30,004,246	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,297,443	N38K	possibly damaging	Het
Wdr90	A	T	17: 25,860,388	D257E	probably damaging	Het
Zbtb9	T	C	17: 26,974,124	C168R	possibly damaging	Het

Other mutations in Gpr33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Gpr33	APN	12	52023560	missense	probably damaging	0.98
IGL02177:Gpr33	APN	12	52024080	missense	probably benign	0.00
IGL03090:Gpr33	APN	12	52024026	missense	probably damaging	0.99
R0883:Gpr33	UTSW	12	52023635	missense	probably benign	0.17
R1112:Gpr33	UTSW	12	52023372	missense	probably damaging	1.00
R1127:Gpr33	UTSW	12	52023469	missense	probably damaging	1.00
R1742:Gpr33	UTSW	12	52024262	critical splice acceptor site	probably null
R1967:Gpr33	UTSW	12	52024208	missense	probably benign
R2917:Gpr33	UTSW	12	52023596	missense	possibly damaging	0.63
R4308:Gpr33	UTSW	12	52023640	nonsense	probably null
R4725:Gpr33	UTSW	12	52024109	missense	probably damaging	1.00
R5616:Gpr33	UTSW	12	52023594	missense	probably damaging	0.99
R7055:Gpr33	UTSW	12	52024253	start codon destroyed	probably null	0.99
R7272:Gpr33	UTSW	12	52024065	missense	probably damaging	0.99
R7419:Gpr33	UTSW	12	52023267	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTCCTTTCTGTAGAAGAGATATCAC -3'
(R):5'- GGGCAATGGATTCATGCAGC -3'

Sequencing Primer
(F):5'- TCACTGAATGTTGAGTTAAAGAGAGC -3'
(R):5'- AATGGATTCATGCAGCCTGTTTC -3'

Posted On

2014-10-02