Mutagenetix > Incidental Mutation

Incidental Mutation 'R4796:Or6a2'

369051

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

Accession Numbers

Essential gene?

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

Stock #

R4796 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106600082-106601812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106600542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 175 (G175D)

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: G175D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: G175D

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: G175D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208147
AA Change: G175D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211432
AA Change: G175D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214105
AA Change: G175D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216375
AA Change: G175D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217764

Meta Mutation Damage Score

0.6068

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,303,350 (GRCm39)	W132*	probably null	Het
Atp8b3	A	G	10: 80,360,188 (GRCm39)	V961A	probably damaging	Het
Bglap	A	C	3: 88,291,712 (GRCm39)	I4S	unknown	Het
Bmp1	T	C	14: 70,729,513 (GRCm39)		probably null	Het
Brd10	G	A	19: 29,731,018 (GRCm39)	H665Y	probably benign	Het
Btaf1	T	C	19: 36,933,828 (GRCm39)	L152P	possibly damaging	Het
Cacna1b	T	A	2: 24,527,499 (GRCm39)	T1621S	possibly damaging	Het
Capn3	A	T	2: 120,333,479 (GRCm39)	N621I	probably damaging	Het
Ccdc121rt3	A	G	5: 112,503,165 (GRCm39)	S180P	possibly damaging	Het
Ccdc59	T	C	10: 105,677,429 (GRCm39)	S23P	probably benign	Het
Cd22	A	T	7: 30,572,381 (GRCm39)		probably null	Het
Cdh20	A	G	1: 104,868,989 (GRCm39)	D160G	probably damaging	Het
Cep112	T	C	11: 108,377,818 (GRCm39)		probably null	Het
Clock	T	C	5: 76,413,763 (GRCm39)	K44R	probably damaging	Het
Coq10b	A	G	1: 55,110,957 (GRCm39)	T242A	probably damaging	Het
Cstdc2	A	G	2: 148,692,658 (GRCm39)	F48S	probably damaging	Het
Ctnnd1	G	T	2: 84,450,270 (GRCm39)	R317S	probably damaging	Het
Dlg5	G	A	14: 24,194,451 (GRCm39)	H1674Y	probably damaging	Het
Drc3	C	A	11: 60,254,354 (GRCm39)	N75K	probably damaging	Het
Efna4	T	C	3: 89,242,555 (GRCm39)	E113G	probably damaging	Het
Egr3	C	A	14: 70,315,024 (GRCm39)	A44D	probably benign	Het
Ercc3	T	C	18: 32,381,363 (GRCm39)	F393S	probably damaging	Het
Evi2	T	A	11: 79,406,273 (GRCm39)		probably benign	Het
Fam78b	T	C	1: 166,906,216 (GRCm39)	V125A	probably benign	Het
Fars2	A	T	13: 36,721,400 (GRCm39)	E448V	probably damaging	Het
Farsb	A	T	1: 78,401,833 (GRCm39)	*590R	probably null	Het
Fat3	A	G	9: 15,911,028 (GRCm39)	M1658T	probably benign	Het
Fhod3	G	T	18: 25,118,358 (GRCm39)	V232F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fzd3	A	G	14: 65,472,607 (GRCm39)	V387A	possibly damaging	Het
Gm1527	A	G	3: 28,974,812 (GRCm39)	I542V	possibly damaging	Het
Gm7964	A	G	7: 83,405,109 (GRCm39)		probably null	Het
Hbs1l	G	T	10: 21,218,405 (GRCm39)	G301C	probably damaging	Het
Hipk4	A	G	7: 27,227,995 (GRCm39)	H247R	probably benign	Het
Hmcn1	A	G	1: 150,629,362 (GRCm39)	V965A	probably benign	Het
Hoxa5	C	T	6: 52,180,943 (GRCm39)	A130T	probably benign	Het
Igf2r	C	T	17: 12,903,013 (GRCm39)	V2346I	possibly damaging	Het
Igsf8	T	C	1: 172,143,889 (GRCm39)	V14A	probably benign	Het
Impg1	G	A	9: 80,301,377 (GRCm39)	P183L	probably damaging	Het
Isl1	T	C	13: 116,441,966 (GRCm39)	N89S	probably benign	Het
Itga1	C	A	13: 115,171,921 (GRCm39)	W61C	probably damaging	Het
Itga5	T	C	15: 103,256,187 (GRCm39)	R922G	probably benign	Het
Itgb5	T	C	16: 33,705,391 (GRCm39)	V227A	possibly damaging	Het
Jph4	G	T	14: 55,347,165 (GRCm39)	P461T	probably damaging	Het
Kcnab1	T	A	3: 65,211,586 (GRCm39)		probably null	Het
Klrc1	T	A	6: 129,654,725 (GRCm39)		probably null	Het
Lonrf2	A	T	1: 38,855,119 (GRCm39)	L92Q	probably benign	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mapk13	T	C	17: 28,994,528 (GRCm39)	Y140H	probably damaging	Het
Meak7	A	T	8: 120,495,093 (GRCm39)	S222T	probably benign	Het
Mgat4d	A	G	8: 84,084,749 (GRCm39)	E164G	probably damaging	Het
Mrtfa	C	T	15: 80,901,234 (GRCm39)	S419N	probably damaging	Het
Mtcl2	A	G	2: 156,862,172 (GRCm39)	S1586P	probably benign	Het
Mthfs	A	T	9: 89,122,078 (GRCm39)	H188L	probably benign	Het
Muc5b	T	A	7: 141,417,983 (GRCm39)	M3643K	possibly damaging	Het
Mylk3	T	C	8: 86,077,014 (GRCm39)	Y474C	probably damaging	Het
Myo5b	A	G	18: 74,877,701 (GRCm39)	T1567A	possibly damaging	Het
Ncaph2	T	G	15: 89,255,010 (GRCm39)	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967 (GRCm39)	R247G	possibly damaging	Het
Nedd9	T	C	13: 41,471,376 (GRCm39)	K208E	probably benign	Het
Nxph2	C	T	2: 23,289,870 (GRCm39)	T74M	probably benign	Het
Ogdh	T	A	11: 6,290,570 (GRCm39)	M385K	probably benign	Het
Or10a5	A	T	7: 106,636,121 (GRCm39)	Y253F	probably benign	Het
Or3a1c	A	T	11: 74,046,417 (GRCm39)	I146F	probably benign	Het
Or4a2	T	C	2: 89,248,235 (GRCm39)	H174R	probably damaging	Het
Or7g18	T	C	9: 18,787,475 (GRCm39)	V284A	probably damaging	Het
Or8b54	T	A	9: 38,686,670 (GRCm39)	F40I	probably benign	Het
Pcsk2	A	C	2: 143,655,345 (GRCm39)	I510L	probably benign	Het
Pdgfra	A	G	5: 75,349,972 (GRCm39)	N952S	probably benign	Het
Pex26	T	C	6: 121,170,516 (GRCm39)	F287S	probably damaging	Het
Pick1	G	C	15: 79,139,810 (GRCm39)		probably benign	Het
Plxnb1	G	T	9: 108,943,663 (GRCm39)	V1917L	probably damaging	Het
Polk	T	C	13: 96,625,764 (GRCm39)	T347A	probably benign	Het
Ppp1r10	T	G	17: 36,234,979 (GRCm39)	I61R	probably damaging	Het
Prex1	A	T	2: 166,434,211 (GRCm39)	L503Q	probably damaging	Het
Ptp4a1	A	C	1: 30,983,019 (GRCm39)	I133R	probably damaging	Het
Rassf10	G	T	7: 112,553,735 (GRCm39)	R112L	probably damaging	Het
Ripor3	T	A	2: 167,823,260 (GRCm39)	I884F	probably damaging	Het
Rnft2	A	G	5: 118,339,311 (GRCm39)	Y369H	probably damaging	Het
Rtp3	A	T	9: 110,815,522 (GRCm39)	V281E	probably benign	Het
Runx1t1	T	A	4: 13,837,767 (GRCm39)	N51K	probably damaging	Het
Selp	A	G	1: 163,972,475 (GRCm39)	T705A	probably benign	Het
Sgca	A	T	11: 94,861,553 (GRCm39)		probably null	Het
Slc22a3	T	C	17: 12,642,675 (GRCm39)	E514G	probably damaging	Het
Slc28a2b	T	A	2: 122,344,940 (GRCm39)	I182N	probably damaging	Het
Slc2a1	G	A	4: 118,989,642 (GRCm39)	R61Q	probably damaging	Het
Smarcal1	G	A	1: 72,636,599 (GRCm39)	V425I	probably benign	Het
Ssx2ip	T	C	3: 146,124,114 (GRCm39)	V43A	probably benign	Het
Synpo	A	G	18: 60,737,386 (GRCm39)	S187P	probably damaging	Het
Thnsl1	T	A	2: 21,216,856 (GRCm39)	C203*	probably null	Het
Ttyh3	A	T	5: 140,620,541 (GRCm39)	I232N	probably damaging	Het
Upk1b	T	C	16: 38,607,604 (GRCm39)	H41R	probably benign	Het
Vmn2r76	T	C	7: 85,879,652 (GRCm39)	D216G	possibly damaging	Het
Zan	A	T	5: 137,379,112 (GRCm39)	C5329*	probably null	Het
Zbtb40	C	T	4: 136,725,953 (GRCm39)	M535I	probably benign	Het
Zfp383	A	C	7: 29,614,263 (GRCm39)	T173P	possibly damaging	Het
Zfp7	T	A	15: 76,775,546 (GRCm39)	C529*	probably null	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
R5268:Or6a2	UTSW	7	106,600,111 (GRCm39)	missense	probably benign	0.00
R5412:Or6a2	UTSW	7	106,600,842 (GRCm39)	missense	probably damaging	0.99
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'- ATCACTGCACCTGTGATGGC -3'
(R):5'- CCTTTGAGGCATGCATGACAC -3'

Sequencing Primer
(F):5'- ACTGCACCTGTGATGGCCATATAG -3'
(R):5'- GAGGCATGCATGACACAGCTC -3'

Posted On

2016-02-04