Mutagenetix > Incidental Mutation

Incidental Mutation 'R9308:Or2a12'

705331

Institutional Source

Beutler Lab

Gene Symbol

Or2a12

Ensembl Gene

ENSMUSG00000073111

Gene Name

olfactory receptor family 2 subfamily A member 12

Synonyms

MOR261-12, GA_x6K02T2P3E9-4632269-4631343, Olfr446

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R9308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42904167-42905093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42904749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 195 (V195F)

Ref Sequence

ENSEMBL: ENSMUSP00000149013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101461] [ENSMUST00000215369] [ENSMUST00000215686] [ENSMUST00000216199]

AlphaFold

Q8VEV0

Predicted Effect

probably benign
Transcript: ENSMUST00000101461
AA Change: V195F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099005
Gene: ENSMUSG00000073111
AA Change: V195F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.7e-62	PFAM
Pfam:7TM_GPCR_Srsx	32	282	1.7e-5	PFAM
Pfam:7tm_1	38	287	3.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215369
AA Change: V195F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000215686
AA Change: V195F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216199
AA Change: V195F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,220,667 (GRCm39)	E389*	probably null	Het
2700049A03Rik	T	C	12: 71,231,233 (GRCm39)	V997A	probably benign	Het
9930012K11Rik	A	G	14: 70,393,863 (GRCm39)		probably null	Het
Acss3	C	G	10: 106,959,282 (GRCm39)	G55R	possibly damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Acy3	C	T	19: 4,038,451 (GRCm39)	R193W	probably damaging	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adamts9	T	C	6: 92,857,875 (GRCm39)	D833G	probably benign	Het
Apoa2	A	G	1: 171,053,300 (GRCm39)	S40G	probably benign	Het
Arhgap21	A	T	2: 20,854,061 (GRCm39)	M1777K	probably damaging	Het
BC004004	A	G	17: 29,513,089 (GRCm39)	E171G	probably benign	Het
Cblb	A	G	16: 52,009,374 (GRCm39)		probably null	Het
Cdk5rap2	T	C	4: 70,328,504 (GRCm39)	M1V	probably null	Het
Clca4a	T	G	3: 144,676,183 (GRCm39)	E117A	probably damaging	Het
Cps1	T	C	1: 67,200,118 (GRCm39)		probably null	Het
Crygd	T	C	1: 65,101,220 (GRCm39)	N125S	probably benign	Het
Csf1	T	A	3: 107,655,585 (GRCm39)	H482L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Dgkg	C	A	16: 22,429,528 (GRCm39)		probably null	Het
Dnhd1	T	C	7: 105,353,484 (GRCm39)	V2879A	probably damaging	Het
Dock6	A	T	9: 21,728,744 (GRCm39)	C1307*	probably null	Het
Exoc1	T	A	5: 76,706,968 (GRCm39)	M505K	probably benign	Het
Fam131a	A	G	16: 20,520,582 (GRCm39)	D345G	probably damaging	Het
Fbxw17	G	T	13: 50,572,004 (GRCm39)	R24L	probably benign	Het
Gmcl1	A	C	6: 86,691,239 (GRCm39)	I252R	possibly damaging	Het
Gpr150	G	A	13: 76,203,701 (GRCm39)	R415C	probably damaging	Het
Gtf3c4	G	A	2: 28,724,982 (GRCm39)	S250L	probably damaging	Het
Irs3	G	A	5: 137,642,343 (GRCm39)	A365V	possibly damaging	Het
Jph4	C	A	14: 55,346,981 (GRCm39)	G522V	probably damaging	Het
Kcnn1	C	T	8: 71,305,434 (GRCm39)	G302R	probably damaging	Het
Ksr1	A	T	11: 78,918,291 (GRCm39)	L621H	probably damaging	Het
Lrrn3	T	C	12: 41,503,945 (GRCm39)	E124G	probably damaging	Het
Map3k6	T	C	4: 132,970,722 (GRCm39)	L203P	probably damaging	Het
Mapk15	T	A	15: 75,865,714 (GRCm39)	C2*	probably null	Het
Mga	T	A	2: 119,754,369 (GRCm39)	N959K	possibly damaging	Het
Mrgprb2	A	T	7: 48,202,655 (GRCm39)	N23K	possibly damaging	Het
Myo10	G	T	15: 25,781,862 (GRCm39)	S1119I	probably damaging	Het
Or12e13	G	A	2: 87,663,523 (GRCm39)	G47R	probably damaging	Het
Or14j4	A	G	17: 37,921,246 (GRCm39)	V132A	possibly damaging	Het
Or2a25	A	T	6: 42,888,931 (GRCm39)	H158L	probably damaging	Het
Or6k6	A	G	1: 173,945,501 (GRCm39)	V27A	probably benign	Het
Ovch2	T	C	7: 107,389,560 (GRCm39)	E329G	probably benign	Het
Pkn2	C	T	3: 142,517,724 (GRCm39)	R458Q	probably benign	Het
Pnpt1	T	C	11: 29,097,535 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,556 (GRCm39)	V666A	probably benign	Het
Psmb10	T	C	8: 106,662,662 (GRCm39)	R226G	probably damaging	Het
Ptpn5	A	G	7: 46,740,569 (GRCm39)	V78A	probably benign	Het
Ptprk	A	G	10: 28,450,850 (GRCm39)	M1004V	probably benign	Het
Pygb	T	A	2: 150,668,297 (GRCm39)	S626T	probably benign	Het
Rad21l	T	C	2: 151,491,049 (GRCm39)	T473A	probably benign	Het
Rassf7	T	C	7: 140,798,063 (GRCm39)	S344P	probably benign	Het
Rbbp6	T	C	7: 122,596,221 (GRCm39)	S550P	probably damaging	Het
Rhpn2	T	C	7: 35,033,805 (GRCm39)	L13P	possibly damaging	Het
Rps11	C	T	7: 44,772,614 (GRCm39)	V66I	probably benign	Het
Slc22a18	T	C	7: 143,044,617 (GRCm39)	V190A	probably benign	Het
Smad1	T	C	8: 80,098,899 (GRCm39)		probably benign	Het
Spock2	A	G	10: 59,965,556 (GRCm39)	K327E	possibly damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traj22	T	C	14: 54,434,729 (GRCm39)	I8T		Het
Txnl1	T	C	18: 63,812,446 (GRCm39)	D116G	probably benign	Het
Ush1g	A	T	11: 115,209,534 (GRCm39)	L220Q	probably damaging	Het
Vmn2r10	C	A	5: 109,145,476 (GRCm39)	E544*	probably null	Het
Vmn2r17	T	C	5: 109,600,505 (GRCm39)	V601A	probably damaging	Het
Zc3h13	C	T	14: 75,565,418 (GRCm39)	R844W	unknown	Het
Zfpm1	A	C	8: 123,034,231 (GRCm39)	D55A	probably benign	Het

Other mutations in Or2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02947:Or2a12	APN	6	42,904,830 (GRCm39)	missense	probably benign	0.24
IGL03164:Or2a12	APN	6	42,905,064 (GRCm39)	nonsense	probably null
PIT4519001:Or2a12	UTSW	6	42,904,578 (GRCm39)	missense	probably damaging	1.00
R1760:Or2a12	UTSW	6	42,904,431 (GRCm39)	missense	possibly damaging	0.90
R1883:Or2a12	UTSW	6	42,904,764 (GRCm39)	missense	probably damaging	0.99
R1884:Or2a12	UTSW	6	42,904,764 (GRCm39)	missense	probably damaging	0.99
R2180:Or2a12	UTSW	6	42,904,459 (GRCm39)	missense	probably benign	0.14
R3001:Or2a12	UTSW	6	42,904,888 (GRCm39)	missense	probably damaging	1.00
R3002:Or2a12	UTSW	6	42,904,888 (GRCm39)	missense	probably damaging	1.00
R4435:Or2a12	UTSW	6	42,905,023 (GRCm39)	missense	probably damaging	1.00
R4544:Or2a12	UTSW	6	42,904,348 (GRCm39)	missense	probably damaging	1.00
R4546:Or2a12	UTSW	6	42,904,348 (GRCm39)	missense	probably damaging	1.00
R5009:Or2a12	UTSW	6	42,904,367 (GRCm39)	missense	probably damaging	1.00
R5236:Or2a12	UTSW	6	42,904,715 (GRCm39)	missense	probably benign	0.04
R5290:Or2a12	UTSW	6	42,904,972 (GRCm39)	missense	probably damaging	0.98
R5297:Or2a12	UTSW	6	42,904,371 (GRCm39)	missense	probably benign	0.17
R7371:Or2a12	UTSW	6	42,904,469 (GRCm39)	nonsense	probably null
R9364:Or2a12	UTSW	6	42,904,534 (GRCm39)	missense	probably damaging	1.00
R9404:Or2a12	UTSW	6	42,904,750 (GRCm39)	missense	probably benign	0.14
X0065:Or2a12	UTSW	6	42,904,990 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTATGCTCCATCCTGGCTG -3'
(R):5'- AGACAGGATCTTTCTCTGTTCTTGG -3'

Sequencing Primer
(F):5'- ATCCTGGCTGCTACTTGCTGG -3'
(R):5'- ATTTGGGGGCCATGTACATG -3'

Posted On

2022-03-25