Mutagenetix > Incidental Mutation

Incidental Mutation 'R6475:Or2v1'

517396

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

044608-MU

Accession Numbers

Essential gene?

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

Stock #

R6475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49025000-49026214 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49025760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 247 (T247I)

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: T215I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328
AA Change: T215I

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: T215I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328
AA Change: T215I

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: T215I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328
AA Change: T215I

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: T247I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328
AA Change: T247I

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: T247I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328
AA Change: T247I

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

Meta Mutation Damage Score

0.1138

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

96% (54/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb5	T	A	8: 55,003,610 (GRCm39)	V44E	probably damaging	Het
Bmpr2	T	A	1: 59,907,503 (GRCm39)	D865E	probably damaging	Het
Ccr4	A	G	9: 114,322,047 (GRCm39)	V6A	probably benign	Het
Cd209a	A	T	8: 3,797,031 (GRCm39)	D102E	probably damaging	Het
Cdh18	A	G	15: 23,227,022 (GRCm39)	D161G	possibly damaging	Het
Cog4	T	A	8: 111,607,526 (GRCm39)	I671N	possibly damaging	Het
Col14a1	T	G	15: 55,309,218 (GRCm39)		probably benign	Het
Cpne6	A	G	14: 55,751,110 (GRCm39)	D173G	probably damaging	Het
Daglb	G	T	5: 143,467,406 (GRCm39)	V275L	probably benign	Het
Defb43	G	T	14: 63,249,321 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,914,120 (GRCm39)	V1022A	possibly damaging	Het
Egfem1	A	T	3: 29,711,312 (GRCm39)	K297M	probably damaging	Het
Egfr	A	G	11: 16,841,259 (GRCm39)	I717V	probably benign	Het
Eif2ak1	T	G	5: 143,803,765 (GRCm39)		probably null	Het
Epb42	T	C	2: 120,857,614 (GRCm39)	Y307C	possibly damaging	Het
Erlec1	G	A	11: 30,898,442 (GRCm39)	Q10*	probably null	Het
Fam185a	A	G	5: 21,630,281 (GRCm39)	D39G	probably benign	Het
Fbxl4	T	A	4: 22,433,661 (GRCm39)	D599E	probably damaging	Het
Fgfr2	T	A	7: 129,802,850 (GRCm39)	T268S	probably benign	Het
Gabra1	A	T	11: 42,053,382 (GRCm39)	M84K	probably benign	Het
Gba1	A	G	3: 89,113,235 (GRCm39)	D222G	probably benign	Het
Gm3409	T	A	5: 146,474,596 (GRCm39)	H37Q	possibly damaging	Het
Gm4559	A	G	7: 141,827,887 (GRCm39)	C72R	unknown	Het
Grik4	T	C	9: 42,540,304 (GRCm39)	N292S	probably benign	Het
Haao	A	G	17: 84,139,113 (GRCm39)	S274P	possibly damaging	Het
Hsd17b4	T	A	18: 50,305,329 (GRCm39)		probably null	Het
Igdcc4	A	T	9: 65,027,603 (GRCm39)	S222C	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Itgb7	T	A	15: 102,124,701 (GRCm39)	D772V	probably benign	Het
Kif14	T	C	1: 136,455,149 (GRCm39)	L1607P	probably damaging	Het
Klf5	A	G	14: 99,538,817 (GRCm39)	T77A	probably benign	Het
Klhl29	C	T	12: 5,141,030 (GRCm39)	V605I	probably damaging	Het
Map4k1	T	C	7: 28,686,447 (GRCm39)	V105A	probably damaging	Het
Mctp2	A	T	7: 71,850,092 (GRCm39)		probably null	Het
Med12l	A	G	3: 59,164,500 (GRCm39)	E1364G	probably damaging	Het
Mup9	A	T	4: 60,375,805 (GRCm39)	D30E	possibly damaging	Het
Naip1	T	C	13: 100,545,596 (GRCm39)	R1311G	probably damaging	Het
Or2ag2	A	G	7: 106,485,604 (GRCm39)	V140A	probably benign	Het
Or4f14	G	A	2: 111,743,204 (GRCm39)	Q24*	probably null	Het
Or8g28	T	A	9: 39,169,378 (GRCm39)	M197L	probably benign	Het
Pkd1l3	A	C	8: 110,349,844 (GRCm39)	T230P	unknown	Het
Pthlh	G	T	6: 147,158,688 (GRCm39)	H91N	probably damaging	Het
Rapgef5	T	A	12: 117,681,942 (GRCm39)	V239D	probably damaging	Het
Rita1	G	A	5: 120,749,635 (GRCm39)	T26I	probably damaging	Het
Robo3	T	C	9: 37,334,586 (GRCm39)	T615A	probably damaging	Het
Rpp38	T	C	2: 3,330,644 (GRCm39)	D86G	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Senp2	G	T	16: 21,842,550 (GRCm39)	V205L	probably damaging	Het
Septin10	T	C	10: 59,028,133 (GRCm39)	N63D	possibly damaging	Het
Sez6	A	G	11: 77,864,670 (GRCm39)			Het
Spesp1	C	T	9: 62,179,715 (GRCm39)	V398I	probably benign	Het
Tmbim7	G	A	5: 3,714,319 (GRCm39)	G19S	probably benign	Het
Tnni3k	A	T	3: 154,646,695 (GRCm39)	L431*	probably null	Het
Trdn	T	A	10: 33,340,551 (GRCm39)		probably null	Het
Tubb2a	A	G	13: 34,259,442 (GRCm39)	V116A	possibly damaging	Het
Ush1c	T	C	7: 45,878,643 (GRCm39)	D124G	probably damaging	Het
Zfp768	A	T	7: 126,943,827 (GRCm39)	F103L	probably damaging	Het
Zfp799	A	G	17: 33,039,820 (GRCm39)	S149P	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
R5598:Or2v1	UTSW	11	49,025,941 (GRCm39)	missense	probably benign	0.00
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
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'- TTACTGAAGCTGGCCTGTG -3'
(R):5'- GCTTTTCAATGTTGGCTGCC -3'

Sequencing Primer
(F):5'- AAGCTGGCCTGTGCAGAC -3'
(R):5'- GCAGCGGTCCAGTCCTTTC -3'

Posted On

2018-05-21