Mutagenetix > Incidental Mutation

Incidental Mutation 'R8255:Or2v1'

640615

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

067681-MU

Accession Numbers

Essential gene?

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

Stock #

R8255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49025000-49026214 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 49025307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 96 (A96D)

Ref Sequence

ENSEMBL: ENSMUSP00000145429 (fasta)

Gene Model

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

AlphaFold

Q8VGD6

Predicted Effect

probably benign
Transcript: ENSMUST00000056759
AA Change: A64D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328
AA Change: A64D

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: A64D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328
AA Change: A64D

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: A64D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328
AA Change: A64D

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: A96D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328
AA Change: A96D

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: A96D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328
AA Change: A96D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (46/46)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,415,850 (GRCm39)	T648S	possibly damaging	Het
Abca12	T	A	1: 71,359,058 (GRCm39)	I583F	probably benign	Het
Abca4	A	T	3: 121,948,926 (GRCm39)	M1732L	probably benign	Het
Ank2	A	G	3: 126,740,398 (GRCm39)	S1742P	unknown	Het
Birc6	G	A	17: 74,969,775 (GRCm39)	A4273T	probably damaging	Het
Chd5	A	G	4: 152,463,880 (GRCm39)	T1450A	probably damaging	Het
Dhx32	T	C	7: 133,339,120 (GRCm39)	N305S	probably benign	Het
Dnah7c	T	C	1: 46,698,589 (GRCm39)	S2174P	probably damaging	Het
Fat2	T	A	11: 55,161,101 (GRCm39)	I3210F	probably benign	Het
Gm12888	A	G	4: 121,181,994 (GRCm39)	S33P	probably damaging	Het
Gpaa1	T	C	15: 76,217,438 (GRCm39)	L292P	probably damaging	Het
Gzmg	T	A	14: 56,395,753 (GRCm39)	R69W	probably damaging	Het
Hat1	A	G	2: 71,239,347 (GRCm39)	D40G	probably damaging	Het
Hcrtr2	T	A	9: 76,140,203 (GRCm39)	I362F	probably damaging	Het
Hmmr	T	C	11: 40,598,262 (GRCm39)	E650G	probably damaging	Het
Ifi35	A	T	11: 101,348,608 (GRCm39)	M180L	probably benign	Het
Ifi44	A	T	3: 151,451,619 (GRCm39)	H162Q	probably benign	Het
Il1rl2	T	C	1: 40,404,471 (GRCm39)	F531L	probably damaging	Het
Ipcef1	T	G	10: 6,870,007 (GRCm39)	K182T	probably benign	Het
Med27	C	A	2: 29,414,376 (GRCm39)		probably null	Het
Med31	G	A	11: 72,106,294 (GRCm39)		probably benign	Het
Moxd1	A	G	10: 24,099,700 (GRCm39)	T67A	probably benign	Het
Myh3	A	G	11: 66,985,848 (GRCm39)	E1266G	probably damaging	Het
Nkx2-4	C	A	2: 146,925,924 (GRCm39)	E313*	probably null	Het
Nol6	G	T	4: 41,120,168 (GRCm39)	R487S	probably benign	Het
Or2z8	T	A	8: 72,811,607 (GRCm39)	F28I	possibly damaging	Het
Or4k15c	C	T	14: 50,321,329 (GRCm39)	V270I	noncoding transcript	Het
Or5p51	A	G	7: 107,444,368 (GRCm39)	S191P	probably damaging	Het
Rnf135	A	G	11: 80,084,713 (GRCm39)	D162G	probably benign	Het
Sdr42e1	G	T	8: 118,390,502 (GRCm39)	N46K	probably benign	Het
Skor2	T	C	18: 76,946,664 (GRCm39)	S129P	unknown	Het
Slc7a11	A	T	3: 50,382,177 (GRCm39)	I190N	probably damaging	Het
Smc5	A	T	19: 23,186,290 (GRCm39)	F1056I		Het
Son	A	T	16: 91,461,824 (GRCm39)	Q2243L	unknown	Het
Sult1a1	T	A	7: 126,274,280 (GRCm39)	I101F	possibly damaging	Het
Sult3a2	T	C	10: 33,655,747 (GRCm39)	I77M	probably benign	Het
Tas1r1	A	T	4: 152,116,774 (GRCm39)	S287T	probably benign	Het
Thbs3	A	C	3: 89,132,565 (GRCm39)	T836P	probably benign	Het
Tlcd3b	G	A	7: 126,423,275 (GRCm39)	V6M	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnfrsf8	A	T	4: 145,041,653 (GRCm39)	M1K	probably null	Het
Vmn1r121	T	G	7: 20,831,679 (GRCm39)	N254H	probably benign	Het
Vmn1r179	C	T	7: 23,628,436 (GRCm39)	A209V	probably benign	Het
Wdr31	A	T	4: 62,381,634 (GRCm39)	S66T	probably benign	Het
Zbtb18	T	C	1: 177,275,003 (GRCm39)	V121A	probably damaging	Het
Zfp30	T	A	7: 29,488,826 (GRCm39)	M82K	probably benign	Het
Zzef1	A	G	11: 72,765,955 (GRCm39)	Q1494R	probably benign	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
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
R8752:Or2v1	UTSW	11	49,025,505 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GCTCTGTGGAAATGTCCTCCTC -3'
(R):5'- ATATACCGTGAGCCACAGTAGG -3'

Sequencing Primer
(F):5'- GTGGAAATGTCCTCCTCATCCTAC -3'
(R):5'- CACAGTAGGGCAGGCTCATG -3'

Posted On

2020-07-28