Mutagenetix > Incidental Mutation

Incidental Mutation 'R5412:Or6a2'

427537

Institutional Source

Beutler Lab

Gene Symbol

Or6a2

Ensembl Gene

ENSMUSG00000070417

Gene Name

olfactory receptor family 6 subfamily A member 2

Synonyms

Olfr41, Olfr2, I54, GA_x6K02T2PBJ9-9381439-9380456, MOR103-15, I7

MMRRC Submission

042981-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R5412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106600082-106601812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106600842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 75 (V75A)

Ref Sequence

ENSEMBL: ENSMUSP00000150093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094109] [ENSMUST00000207280] [ENSMUST00000208147] [ENSMUST00000211432] [ENSMUST00000214105] [ENSMUST00000216375]

AlphaFold

Q9QWU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000094109
AA Change: V75A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: V75A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	313	9.2e-53	PFAM
Pfam:7tm_1	42	295	3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207280
AA Change: V75A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208147
AA Change: V75A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211432
AA Change: V75A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214105
AA Change: V75A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216375
AA Change: V75A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217764

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,886,036 (GRCm39)	N36Y	probably damaging	Het
Ankfn1	T	A	11: 89,396,007 (GRCm39)	E246D	probably benign	Het
Arid1a	T	C	4: 133,446,913 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,653,522 (GRCm39)	D300E	probably benign	Het
C3	T	C	17: 57,527,187 (GRCm39)	D754G	probably benign	Het
Ccpg1	A	T	9: 72,917,588 (GRCm39)	Q240L	probably damaging	Het
Cdk13	G	A	13: 17,941,115 (GRCm39)	P650S	probably damaging	Het
Celsr2	G	T	3: 108,307,311 (GRCm39)	S1933Y	probably damaging	Het
Cep135	T	A	5: 76,764,709 (GRCm39)	H562Q	probably benign	Het
Cyp26a1	G	T	19: 37,689,630 (GRCm39)	C442F	probably damaging	Het
Dnah7a	T	C	1: 53,674,503 (GRCm39)	S425G	probably benign	Het
Espn	C	T	4: 152,212,582 (GRCm39)	V752M	probably damaging	Het
Glyr1	A	G	16: 4,854,297 (GRCm39)	S113P	possibly damaging	Het
Grk4	A	T	5: 34,902,612 (GRCm39)	Y388F	probably benign	Het
H2-T15	C	T	17: 36,366,936 (GRCm39)	C369Y	probably benign	Het
Heca	C	A	10: 17,778,044 (GRCm39)	V518F	probably damaging	Het
Hmcn2	C	T	2: 31,236,629 (GRCm39)	P391S	possibly damaging	Het
Hnrnpl	A	G	7: 28,510,529 (GRCm39)		probably benign	Het
Hsd3b2	A	G	3: 98,619,208 (GRCm39)	S246P	possibly damaging	Het
Ifna11	C	T	4: 88,738,380 (GRCm39)	P62L	probably damaging	Het
Katnal2	A	T	18: 77,090,131 (GRCm39)	V292D	probably damaging	Het
Krt16	T	A	11: 100,137,593 (GRCm39)	I371F	probably damaging	Het
Ly6g2	A	T	15: 75,089,669 (GRCm39)	E59V	probably damaging	Het
Map10	A	T	8: 126,397,724 (GRCm39)	L372F	probably damaging	Het
Megf10	A	T	18: 57,324,219 (GRCm39)	M87L	probably damaging	Het
Ncoa6	T	C	2: 155,249,701 (GRCm39)	H1201R	possibly damaging	Het
Ndc80	C	A	17: 71,821,226 (GRCm39)	D241Y	probably damaging	Het
Ndufs1	T	C	1: 63,205,508 (GRCm39)	M94V	possibly damaging	Het
Nkx2-6	G	T	14: 69,412,195 (GRCm39)	R121L	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Otop1	A	G	5: 38,455,328 (GRCm39)	I241V	probably benign	Het
Panx2	C	A	15: 88,953,135 (GRCm39)	P542H	possibly damaging	Het
Pcdha5	C	A	18: 37,095,510 (GRCm39)	P673Q	probably benign	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Prdx6	A	T	1: 161,071,860 (GRCm39)	I102N	probably damaging	Het
Prkd3	T	A	17: 79,262,140 (GRCm39)	I725F	possibly damaging	Het
Selenon	T	C	4: 134,269,749 (GRCm39)	N395S	probably benign	Het
Serpinb8	G	A	1: 107,533,616 (GRCm39)	E224K	probably benign	Het
Serpinb9b	A	G	13: 33,213,496 (GRCm39)	M18V	probably benign	Het
Smc6	A	G	12: 11,335,400 (GRCm39)	E318G	possibly damaging	Het
Srrt	A	T	5: 137,294,549 (GRCm39)	Y786N	probably damaging	Het
Stk36	G	T	1: 74,644,615 (GRCm39)		probably null	Het
Stpg1	T	A	4: 135,252,786 (GRCm39)	L179Q	possibly damaging	Het
Stra8	G	A	6: 34,907,885 (GRCm39)	M1I	probably null	Het
Tiam1	G	T	16: 89,681,753 (GRCm39)	H408Q	possibly damaging	Het
Tm2d1	G	A	4: 98,253,855 (GRCm39)	T106I	probably damaging	Het
Tmem150b	A	C	7: 4,719,368 (GRCm39)	I184S	probably null	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Vps13b	G	A	15: 35,533,531 (GRCm39)	A868T	probably damaging	Het
Wdr81	C	T	11: 75,341,620 (GRCm39)	D1216N	probably null	Het
Zfp26	T	C	9: 20,349,535 (GRCm39)	Y343C	possibly damaging	Het
Zfp276	A	T	8: 123,982,520 (GRCm39)	I95F	probably damaging	Het
Zfp330	T	C	8: 83,490,865 (GRCm39)	E315G	probably benign	Het
Zfp683	C	A	4: 133,781,862 (GRCm39)	P56Q	probably damaging	Het
Zpld1	T	A	16: 55,052,646 (GRCm39)	S323C	possibly damaging	Het

Other mutations in Or6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02270:Or6a2	APN	7	106,600,630 (GRCm39)	missense	probably damaging	1.00
IGL02620:Or6a2	APN	7	106,600,825 (GRCm39)	nonsense	probably null
IGL02942:Or6a2	APN	7	106,600,561 (GRCm39)	missense	possibly damaging	0.88
R1171:Or6a2	UTSW	7	106,600,791 (GRCm39)	missense	probably benign
R1956:Or6a2	UTSW	7	106,600,342 (GRCm39)	missense	probably damaging	1.00
R2128:Or6a2	UTSW	7	106,600,455 (GRCm39)	missense	probably damaging	1.00
R2342:Or6a2	UTSW	7	106,600,116 (GRCm39)	missense	probably benign
R2351:Or6a2	UTSW	7	106,600,883 (GRCm39)	nonsense	probably null
R3752:Or6a2	UTSW	7	106,600,682 (GRCm39)	nonsense	probably null
R4197:Or6a2	UTSW	7	106,600,245 (GRCm39)	missense	probably damaging	0.97
R4237:Or6a2	UTSW	7	106,600,536 (GRCm39)	missense	probably damaging	1.00
R4787:Or6a2	UTSW	7	106,600,293 (GRCm39)	missense	probably benign	0.00
R4795:Or6a2	UTSW	7	106,600,542 (GRCm39)	missense	probably damaging	1.00
R4796:Or6a2	UTSW	7	106,600,542 (GRCm39)	missense	probably damaging	1.00
R5268:Or6a2	UTSW	7	106,600,111 (GRCm39)	missense	probably benign	0.00
R5474:Or6a2	UTSW	7	106,600,296 (GRCm39)	missense	probably damaging	0.98
R5542:Or6a2	UTSW	7	106,600,286 (GRCm39)	missense	probably damaging	1.00
R5792:Or6a2	UTSW	7	106,600,650 (GRCm39)	missense	possibly damaging	0.61
R6149:Or6a2	UTSW	7	106,600,807 (GRCm39)	missense	probably benign
R7552:Or6a2	UTSW	7	106,600,534 (GRCm39)	missense	probably benign
R7838:Or6a2	UTSW	7	106,600,514 (GRCm39)	nonsense	probably null
R8177:Or6a2	UTSW	7	106,600,663 (GRCm39)	missense	probably damaging	1.00
R9666:Or6a2	UTSW	7	106,600,099 (GRCm39)	missense	probably benign	0.03
R9787:Or6a2	UTSW	7	106,600,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCACATAGCGGTCATAG -3'
(R):5'- CCAAGCTAGATTCTTGCTGCTG -3'

Sequencing Primer
(F):5'- CACATAGCGGTCATAGGCCATG -3'
(R):5'- ACCTTGGTCTATCTCTTGAACAAGAC -3'

Posted On

2016-09-01