Mutagenetix > Incidental Mutation

Incidental Mutation 'R4546:Or2a12'

333772

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

041780-MU

Accession Numbers

Essential gene?

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

Stock #

R4546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42904167-42905093 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42904348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 61 (S61L)

Ref Sequence

ENSEMBL: ENSMUSP00000150255 (fasta)

Gene Model

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

AlphaFold

Q8VEV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000101461
AA Change: S61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099005
Gene: ENSMUSG00000073111
AA Change: S61L

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 damaging
Transcript: ENSMUST00000215369
AA Change: S61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215686
AA Change: S61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216199
AA Change: S61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.4304

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (65/67)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	G	A	14: 70,393,927 (GRCm39)	S236L	probably benign	Het
Ahcyl	C	T	16: 45,974,330 (GRCm39)	C349Y	possibly damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Alpi	T	A	1: 87,026,839 (GRCm39)	Y413F	probably damaging	Het
Asmt	T	C	X: 169,110,230 (GRCm39)		probably null	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
Bnc2	A	G	4: 84,210,213 (GRCm39)	F744L	probably benign	Het
Ccnyl1	G	T	1: 64,762,735 (GRCm39)	M347I	probably benign	Het
Cdk13	T	C	13: 17,941,159 (GRCm39)	K21R	probably damaging	Het
Cenpf	A	C	1: 189,386,847 (GRCm39)	L1811R	probably damaging	Het
Cfap91	C	T	16: 38,155,885 (GRCm39)	V113I	probably benign	Het
Cr2	A	G	1: 194,853,349 (GRCm39)	I43T	possibly damaging	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Cylc2	A	T	4: 51,229,840 (GRCm39)	D394V	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Dcaf8	T	C	1: 172,007,460 (GRCm39)		probably benign	Het
Dlec1	A	T	9: 118,957,146 (GRCm39)	I796F	probably damaging	Het
Dnah12	A	T	14: 26,494,971 (GRCm39)	Q1343L	probably damaging	Het
Dnajc21	T	C	15: 10,447,183 (GRCm39)	R522G	probably benign	Het
F2rl3	C	T	8: 73,489,211 (GRCm39)	A146V	probably benign	Het
Fastkd1	C	T	2: 69,542,655 (GRCm39)	E51K	probably damaging	Het
Glrb	T	C	3: 80,786,993 (GRCm39)	S57G	probably damaging	Het
Gm5507	T	A	18: 54,117,409 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,385,913 (GRCm39)	K22E	probably damaging	Het
Hdac1-ps	A	T	17: 78,800,388 (GRCm39)	T460S	probably benign	Het
Ift122	T	A	6: 115,867,549 (GRCm39)	L433Q	probably damaging	Het
Il21r	A	G	7: 125,228,071 (GRCm39)	R181G	probably damaging	Het
Il5ra	G	T	6: 106,715,459 (GRCm39)	S125*	probably null	Het
Kdm7a	T	C	6: 39,152,406 (GRCm39)	R97G	probably benign	Het
Lepr	T	A	4: 101,671,838 (GRCm39)	I954N	probably benign	Het
Lims1	T	C	10: 58,254,612 (GRCm39)		probably benign	Het
Mest	T	C	6: 30,740,679 (GRCm39)	W13R	probably damaging	Het
Mfn2	A	G	4: 147,971,909 (GRCm39)	V224A	probably benign	Het
Muc15	T	C	2: 110,567,844 (GRCm39)	S330P	probably damaging	Het
Ncapg	T	C	5: 45,828,554 (GRCm39)	F102L	probably damaging	Het
Nkd2	T	C	13: 73,971,475 (GRCm39)	D187G	probably benign	Het
Nphp1	C	T	2: 127,607,939 (GRCm39)		probably null	Het
Or10ag59	T	C	2: 87,405,530 (GRCm39)	F34S	probably benign	Het
Or1e19	T	C	11: 73,316,012 (GRCm39)	N266D	probably benign	Het
Osbpl6	T	C	2: 76,414,836 (GRCm39)	V409A	possibly damaging	Het
Pdhx	A	T	2: 102,903,742 (GRCm39)	L18Q	probably null	Het
Pear1	C	T	3: 87,661,968 (GRCm39)	G469D	probably damaging	Het
Plec	T	C	15: 76,065,757 (GRCm39)	T1506A	probably benign	Het
Plod3	T	A	5: 137,017,801 (GRCm39)	D192E	possibly damaging	Het
Rbks	T	C	5: 31,781,912 (GRCm39)	N296S	probably benign	Het
Sema3c	G	A	5: 17,899,770 (GRCm39)	V421I	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Tmem200c	A	G	17: 69,149,166 (GRCm39)	D583G	probably benign	Het
Trpm6	A	G	19: 18,809,841 (GRCm39)	Y1079C	probably damaging	Het
Ttn	T	C	2: 76,652,932 (GRCm39)		probably null	Het
Vcp	T	C	4: 42,988,813 (GRCm39)		probably benign	Het
Vmn2r78	T	C	7: 86,603,811 (GRCm39)	V663A	probably damaging	Het
Vmn2r9	T	G	5: 108,995,551 (GRCm39)	M366L	probably benign	Het
Wdr11	A	G	7: 129,230,729 (GRCm39)	E878G	probably damaging	Het
Zan	C	G	5: 137,382,096 (GRCm39)	M5150I	unknown	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
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
R9308:Or2a12	UTSW	6	42,904,749 (GRCm39)	missense	probably benign	0.14
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'- CAGACATGGATCACTGAGGTCATTC -3'
(R):5'- CTCCAGCTCATGATCAGTGTG -3'

Sequencing Primer
(F):5'- CATGGATCACTGAGGTCATTCTACTG -3'
(R):5'- CAGCTCATGATCAGTGTGTATTTC -3'

Posted On

2015-08-18