Mutagenetix > Incidental Mutation

Incidental Mutation 'R1242:Or2v2'

152044

Institutional Source

Beutler Lab

Gene Symbol

Or2v2

Ensembl Gene

ENSMUSG00000047511

Gene Name

olfactory receptor family 2 subfamily V member 2

Synonyms

Olfr1396, GA_x6K02T2QP88-6321048-6321995, MOR276-2

MMRRC Submission

039309-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1242 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49003604-49004584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49003728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 275 (V275E)

Ref Sequence

ENSEMBL: ENSMUSP00000150961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000060398] [ENSMUST00000102785] [ENSMUST00000109201] [ENSMUST00000179282] [ENSMUST00000203007] [ENSMUST00000203149] [ENSMUST00000215553] [ENSMUST00000203810]

AlphaFold

Q7TQS8

Predicted Effect

probably benign
Transcript: ENSMUST00000056759

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060398
AA Change: V275E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056876
Gene: ENSMUSG00000047511
AA Change: V275E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	319	3.2e-46	PFAM
Pfam:7tm_1	53	302	7.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102785

SMART Domains

Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	1.5e-33	PFAM
Pfam:7tm_4	108	252	1.7e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109201
AA Change: V275E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104824
Gene: ENSMUSG00000047511
AA Change: V275E

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	252	1e-5	PFAM
Pfam:7tm_1	42	291	4e-35	PFAM
Pfam:7tm_4	140	284	5.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179282

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	276	3.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	4	227	5.7e-7	PFAM
Pfam:7tm_1	10	259	3.8e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203007
AA Change: V275E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145057
Gene: ENSMUSG00000047511
AA Change: V275E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	9.6e-47	PFAM
Pfam:7TM_GPCR_Srsx	36	252	1e-5	PFAM
Pfam:7tm_1	42	291	3.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203149

SMART Domains

Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	253	3.8e-7	PFAM
Pfam:7tm_1	42	291	2.5e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203412

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215553
AA Change: V275E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000203810

SMART Domains

Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.6e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	253	3.8e-7	PFAM
Pfam:7tm_1	42	291	2.5e-26	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs7	A	G	3: 36,632,576 (GRCm39)	F549L	probably damaging	Het
Cmc2	T	C	8: 117,637,937 (GRCm39)	D4G	probably damaging	Het
Cnr2	T	A	4: 135,644,294 (GRCm39)	L124Q	probably damaging	Het
Cobll1	T	C	2: 64,981,513 (GRCm39)		probably null	Het
Defb30	A	T	14: 63,273,455 (GRCm39)	Y53N	probably damaging	Het
Dtnb	T	A	12: 3,782,627 (GRCm39)	Y363*	probably null	Het
Fam170a	A	G	18: 50,415,206 (GRCm39)	E284G	probably damaging	Het
Gm16505	T	A	13: 3,411,109 (GRCm39)		noncoding transcript	Het
Gtf2h1	T	C	7: 46,462,175 (GRCm39)		probably null	Het
Gucy1a1	C	T	3: 82,013,260 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,022,767 (GRCm39)	N945I	probably damaging	Het
Hpse2	G	A	19: 42,955,416 (GRCm39)	T327I	probably benign	Het
Il3	T	C	11: 54,157,929 (GRCm39)	I50V	probably benign	Het
Mgat5b	A	G	11: 116,869,230 (GRCm39)	K591R	probably benign	Het
Nup214	C	T	2: 31,867,782 (GRCm39)	T83I	probably benign	Het
Rp1	T	A	1: 4,415,185 (GRCm39)	I1976F	probably benign	Het
Sardh	T	A	2: 27,125,575 (GRCm39)	D313V	probably damaging	Het
Tent5c	A	T	3: 100,380,192 (GRCm39)	L188Q	probably damaging	Het
Vmn1r173	C	T	7: 23,402,650 (GRCm39)	P295L	probably damaging	Het
Vmn1r38	A	C	6: 66,753,344 (GRCm39)	Y257*	probably null	Het
Xkr4	T	A	1: 3,286,360 (GRCm39)	D610V	probably damaging	Het

Other mutations in Or2v2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Or2v2	APN	11	49,003,680 (GRCm39)	missense	probably damaging	1.00
IGL01514:Or2v2	APN	11	49,004,403 (GRCm39)	missense	probably damaging	1.00
IGL03188:Or2v2	APN	11	49,004,536 (GRCm39)	missense	probably damaging	1.00
R0314:Or2v2	UTSW	11	49,004,519 (GRCm39)	missense	possibly damaging	0.54
R1625:Or2v2	UTSW	11	49,004,071 (GRCm39)	missense	probably benign	0.01
R2212:Or2v2	UTSW	11	49,004,043 (GRCm39)	missense	probably damaging	1.00
R4290:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4291:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4292:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4294:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4295:Or2v2	UTSW	11	49,004,254 (GRCm39)	missense	probably benign	0.00
R4351:Or2v2	UTSW	11	49,004,530 (GRCm39)	missense	probably damaging	0.99
R4817:Or2v2	UTSW	11	49,004,448 (GRCm39)	missense	probably damaging	1.00
R4859:Or2v2	UTSW	11	49,003,993 (GRCm39)	missense	probably damaging	1.00
R5245:Or2v2	UTSW	11	49,004,116 (GRCm39)	missense	probably benign	0.12
R5350:Or2v2	UTSW	11	49,003,879 (GRCm39)	missense	probably benign	0.00
R6625:Or2v2	UTSW	11	49,003,896 (GRCm39)	missense	probably damaging	1.00
R7529:Or2v2	UTSW	11	49,003,686 (GRCm39)	missense	probably damaging	1.00
R8410:Or2v2	UTSW	11	49,004,511 (GRCm39)	missense	possibly damaging	0.88
R8841:Or2v2	UTSW	11	49,003,938 (GRCm39)	missense	probably benign	0.19
R9418:Or2v2	UTSW	11	49,004,484 (GRCm39)	missense	probably benign	0.00
X0024:Or2v2	UTSW	11	49,004,138 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CTGTCCAAGATAGCAGGTGTCAAGC -3'
(R):5'- GGTGGACCACTTCTTCTGTGAGATG -3'

Sequencing Primer
(F):5'- AGGTGTCAAGCACCTCATTG -3'
(R):5'- GTGGACACATCCCTATTTGAGAAG -3'

Posted On

2014-01-29