Mutagenetix > Incidental Mutations

Incidental Mutation 'R2215:Olfr1412'

241059

Institutional Source

Beutler Lab

Gene Symbol

Olfr1412

Ensembl Gene

ENSMUSG00000046300

Gene Name

olfactory receptor 1412

Synonyms

GA_x6K02T2R7CC-81165686-81164721, MOR208-4

MMRRC Submission

040217-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92585779-92591375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92588986 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 219 (V219I)

Ref Sequence

ENSEMBL: ENSMUSP00000150943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062964] [ENSMUST00000190505]

Predicted Effect

probably benign
Transcript: ENSMUST00000062964
AA Change: V219I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000060291
Gene: ENSMUSG00000046300
AA Change: V219I

Domain	Start	End	E-Value	Type
transmembrane domain	10	27	N/A	INTRINSIC
Pfam:7tm_4	38	314	7.8e-47	PFAM
Pfam:7tm_1	48	321	1.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190505
AA Change: V219I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204141

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

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
Acaca	T	A	11: 84,363,793	S1899T	probably damaging	Het
Accs	G	T	2: 93,841,898	N208K	probably benign	Het
Actn4	C	A	7: 28,918,753	V22L	possibly damaging	Het
Adam21	A	G	12: 81,560,290	S233P	probably damaging	Het
Agmat	C	T	4: 141,749,588	R102C	probably benign	Het
Akap8l	T	C	17: 32,321,595	E608G	possibly damaging	Het
Arap2	T	C	5: 62,677,176	I788V	probably damaging	Het
Arhgef12	G	T	9: 43,005,871	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,051,021	H255Q	possibly damaging	Het
Baz1a	G	A	12: 54,975,369	R43*	probably null	Het
Bcas3	T	C	11: 85,801,943	S862P	probably damaging	Het
Blm	A	T	7: 80,499,847	H671Q	possibly damaging	Het
Bmp8a	C	T	4: 123,325,118	V166I	probably benign	Het
Cep120	G	T	18: 53,727,635	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,380,842	G437E	unknown	Het
Cyp2a5	T	C	7: 26,840,475	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,545,267	T242A	probably benign	Het
Dach1	A	G	14: 98,168,481		probably null	Het
Ddx20	A	T	3: 105,680,340		probably benign	Het
Eif4enif1	A	G	11: 3,227,476	S185G	probably damaging	Het
Ep400	A	T	5: 110,693,555		probably benign	Het
Fam117b	T	A	1: 59,969,060	I351K	probably damaging	Het
Fbxo31	T	C	8: 121,566,311	I112V	probably benign	Het
Galntl5	A	T	5: 25,198,478	N149I	probably damaging	Het
Gja8	A	T	3: 96,919,902	F148Y	probably damaging	Het
Gm9774	G	A	3: 92,428,423	A324V	probably damaging	Het
Gpatch1	A	T	7: 35,293,827	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,740,233	T76M	probably damaging	Het
Htr4	T	A	18: 62,413,716	C113*	probably null	Het
Igf1r	T	A	7: 68,165,234	D294E	probably benign	Het
Kdm6b	G	A	11: 69,405,044	P799L	unknown	Het
Lat	A	T	7: 126,367,965	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,643,529	R51C	probably benign	Het
Map3k1	A	G	13: 111,755,788	S978P	probably benign	Het
Masp1	T	A	16: 23,452,521	D659V	possibly damaging	Het
Mcam	A	T	9: 44,139,953	R415*	probably null	Het
Mtmr10	A	G	7: 64,337,655	T648A	probably benign	Het
Myh2	T	C	11: 67,191,737	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,739,585	E64G	probably damaging	Het
Olfr1240	T	C	2: 89,440,037	M81V	probably benign	Het
Olfr503	T	C	7: 108,544,888	L119P	probably damaging	Het
Olfr788	A	T	10: 129,473,420	I243F	probably damaging	Het
Pcdhb8	T	G	18: 37,357,074	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918		probably benign	Het
Pld1	A	T	3: 28,078,393	I577F	probably benign	Het
Plekhm1	A	T	11: 103,376,985	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 20,961,743		probably null	Het
Retreg3	G	T	11: 101,119,633	Y49*	probably null	Het
Rrp36	T	C	17: 46,672,820	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,109,169	A167S	probably damaging	Het
Sema5b	A	G	16: 35,660,215	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,237,839		probably benign	Het
Smox	T	C	2: 131,520,270		probably null	Het
Spats2l	A	T	1: 57,946,416	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,927,834	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602		probably benign	Het
Tet2	T	A	3: 133,486,601	I691F	probably benign	Het
Tnxb	T	C	17: 34,704,140	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,740,509	E26680G	probably damaging	Het
Txlna	T	C	4: 129,639,318	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483		probably null	Het
Ubr3	A	T	2: 69,979,317		probably null	Het
Usp37	A	C	1: 74,444,526	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,424,339	D204G	probably damaging	Het
Vmn1r230	T	C	17: 20,847,422	I291T	probably benign	Het
Zfp229	T	G	17: 21,746,277	V496G	possibly damaging	Het

Other mutations in Olfr1412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Olfr1412	APN	1	92588972	missense	possibly damaging	0.52
IGL02177:Olfr1412	APN	1	92588757	missense	possibly damaging	0.96
IGL02507:Olfr1412	APN	1	92588926	missense	possibly damaging	0.68
IGL02888:Olfr1412	APN	1	92589203	missense	probably damaging	1.00
IGL03001:Olfr1412	APN	1	92588551	missense	probably damaging	1.00
R1771:Olfr1412	UTSW	1	92589115	missense	probably benign	0.03
R1780:Olfr1412	UTSW	1	92588389	missense	probably benign	0.01
R2437:Olfr1412	UTSW	1	92588966	missense	possibly damaging	0.46
R3176:Olfr1412	UTSW	1	92588813	missense	probably benign	0.32
R3177:Olfr1412	UTSW	1	92588813	missense	probably benign	0.32
R3276:Olfr1412	UTSW	1	92588813	missense	probably benign	0.32
R3277:Olfr1412	UTSW	1	92588813	missense	probably benign	0.32
R4475:Olfr1412	UTSW	1	92588579	missense	probably benign	0.00
R4892:Olfr1412	UTSW	1	92588921	missense	probably benign	0.05
R5910:Olfr1412	UTSW	1	92588707	missense	probably damaging	1.00
R6808:Olfr1412	UTSW	1	92589046	missense	probably damaging	0.99
R7130:Olfr1412	UTSW	1	92588912	missense	probably benign	0.10
R7476:Olfr1412	UTSW	1	92589264	missense	probably benign
Z1088:Olfr1412	UTSW	1	92588551	missense	probably damaging	1.00
Z1177:Olfr1412	UTSW	1	92588378	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACAGTCTGTGCTTGCCTTG -3'
(R):5'- GCCTTGCTCTTTAGATGCCAAAC -3'

Sequencing Primer
(F):5'- AGGTTGCCTCAACTCCATTGTG -3'
(R):5'- AACCTCCTGGCTGGCCATATATAG -3'

Posted On

2014-10-15