Mutagenetix > Incidental Mutation

Incidental Mutation 'R5598:Or2v1'

437932

Institutional Source

Beutler Lab

Gene Symbol

Or2v1

Ensembl Gene

ENSMUSG00000040328

Gene Name

olfactory receptor family 2 subfamily V member 1

Synonyms

GA_x6K02T2QP88-6300500-6299553, Olfr56, IF7, MOR276-1

MMRRC Submission

043150-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49025000-49026214 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 49025941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 307 (D307E)

Ref Sequence

ENSEMBL: ENSMUSP00000144951 (fasta)

Gene Model

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

AlphaFold

Q8VGD6

Predicted Effect

probably benign
Transcript: ENSMUST00000056759
AA Change: D275E

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

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328
AA Change: D275E

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

probably benign
Transcript: ENSMUST00000102785
AA Change: D275E

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

SMART Domains

Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328
AA Change: D275E

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

probably benign
Transcript: ENSMUST00000179282
AA Change: D275E

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

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328
AA Change: D275E

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

probably benign
Transcript: ENSMUST00000203149
AA Change: D307E

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

SMART Domains

Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328
AA Change: D307E

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

probably benign
Transcript: ENSMUST00000203810
AA Change: D307E

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

SMART Domains

Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328
AA Change: D307E

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,025,645 (GRCm39)	D550G	probably damaging	Het
Ano6	A	G	15: 95,839,228 (GRCm39)	T457A	probably damaging	Het
Ano8	A	G	8: 71,935,221 (GRCm39)	V359A	probably damaging	Het
Aqp2	G	T	15: 99,476,993 (GRCm39)		probably benign	Het
Atp13a5	C	T	16: 29,075,829 (GRCm39)		probably benign	Het
Carmil3	ACCCCC	ACCCCCCCCCCCC	14: 55,741,456 (GRCm39)		probably null	Het
Ccr1l1	A	G	9: 123,778,030 (GRCm39)	V139A	probably benign	Het
Cecr2	A	G	6: 120,708,407 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,310,119 (GRCm39)	V1537A	possibly damaging	Het
Chd6	T	A	2: 160,856,032 (GRCm39)	K741N	probably damaging	Het
Chrna1	T	A	2: 73,397,075 (GRCm39)	T405S	probably benign	Het
Cish	T	C	9: 107,174,227 (GRCm39)	V5A	possibly damaging	Het
Cmss1	C	A	16: 57,131,649 (GRCm39)	C159F	probably damaging	Het
Col1a2	A	G	6: 4,516,916 (GRCm39)		probably benign	Het
Cradd	G	T	10: 95,011,666 (GRCm39)	S158*	probably null	Het
Dmxl1	G	A	18: 49,997,545 (GRCm39)	A578T	probably benign	Het
Drd2	A	G	9: 49,318,315 (GRCm39)	N419S	possibly damaging	Het
E4f1	T	C	17: 24,666,103 (GRCm39)	T232A	probably damaging	Het
Fat2	T	A	11: 55,171,956 (GRCm39)	E2919V	probably damaging	Het
Gc	T	C	5: 89,586,309 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hsd11b2	G	A	8: 106,249,143 (GRCm39)	V173I	probably benign	Het
Kdm6b	C	T	11: 69,296,900 (GRCm39)	A456T	probably damaging	Het
Kif18b	G	A	11: 102,799,015 (GRCm39)	P729S	possibly damaging	Het
Lgi1	A	G	19: 38,294,629 (GRCm39)	D467G	possibly damaging	Het
Loxl1	A	G	9: 58,219,650 (GRCm39)	Y174H	possibly damaging	Het
Mtus1	A	T	8: 41,475,592 (GRCm39)	I824N	probably damaging	Het
Myrf	C	T	19: 10,192,654 (GRCm39)	E622K	probably benign	Het
Ncam1	A	G	9: 49,457,051 (GRCm39)	Y416H	probably damaging	Het
Nceh1	A	G	3: 27,280,248 (GRCm39)	T132A	probably benign	Het
Nhlrc4	G	A	17: 26,162,466 (GRCm39)	P94S	probably damaging	Het
Or52s1b	A	T	7: 102,822,841 (GRCm39)	M1K	probably null	Het
Or8b1	A	T	9: 38,399,821 (GRCm39)	R165S	possibly damaging	Het
Pcdhac2	A	G	18: 37,277,476 (GRCm39)	Y152C	probably damaging	Het
Pdia3	C	A	2: 121,244,611 (GRCm39)	T8K	possibly damaging	Het
Pogz	T	A	3: 94,771,820 (GRCm39)	V304E	probably damaging	Het
Snrnp200	A	G	2: 127,068,007 (GRCm39)	S835G	possibly damaging	Het
Susd4	T	C	1: 182,719,635 (GRCm39)	S417P	probably benign	Het
Thsd7b	G	A	1: 129,523,578 (GRCm39)	R127H	probably damaging	Het
Tmco4	A	G	4: 138,781,216 (GRCm39)	D460G	probably damaging	Het
Ttll9	T	A	2: 152,826,234 (GRCm39)	M148K	probably damaging	Het
Ubn2	G	A	6: 38,467,323 (GRCm39)	C677Y	probably benign	Het
Vmn2r98	T	C	17: 19,301,161 (GRCm39)	I721T	probably benign	Het
Wdfy4	C	A	14: 32,855,454 (GRCm39)	C720F	probably damaging	Het
Zzef1	G	A	11: 72,807,347 (GRCm39)	D2742N	probably damaging	Het

Other mutations in Or2v1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4354001:Or2v1	UTSW	11	49,025,132 (GRCm39)	missense	probably damaging	1.00
R0200:Or2v1	UTSW	11	49,025,874 (GRCm39)	missense	probably damaging	0.99
R0540:Or2v1	UTSW	11	49,025,549 (GRCm39)	missense	probably damaging	1.00
R0607:Or2v1	UTSW	11	49,025,549 (GRCm39)	missense	probably damaging	1.00
R4877:Or2v1	UTSW	11	49,025,608 (GRCm39)	missense	probably damaging	1.00
R5027:Or2v1	UTSW	11	49,025,451 (GRCm39)	missense	probably benign	0.35
R5952:Or2v1	UTSW	11	49,025,399 (GRCm39)	missense	probably damaging	1.00
R6191:Or2v1	UTSW	11	49,025,877 (GRCm39)	missense	probably damaging	1.00
R6475:Or2v1	UTSW	11	49,025,760 (GRCm39)	missense	probably benign	0.01
R6565:Or2v1	UTSW	11	49,025,639 (GRCm39)	missense	probably damaging	0.99
R6807:Or2v1	UTSW	11	49,025,805 (GRCm39)	missense	probably damaging	1.00
R7228:Or2v1	UTSW	11	49,025,706 (GRCm39)	missense	possibly damaging	0.52
R7792:Or2v1	UTSW	11	49,025,496 (GRCm39)	missense	possibly damaging	0.95
R8255:Or2v1	UTSW	11	49,025,307 (GRCm39)	missense	probably benign	0.02
R8752:Or2v1	UTSW	11	49,025,505 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCCTATGCTCGCATCTTGGG -3'
(R):5'- GGTCCCTTCAAAATCCTTGTG -3'

Sequencing Primer
(F):5'- CGTATGCACTCTGCCCAG -3'
(R):5'- CCCTTCAAAATCCTTGTGGTAAAGGG -3'

Posted On

2016-10-26