Mutagenetix > Incidental Mutations

Incidental Mutation 'R7490:Olfr1212'

580653

Institutional Source

Beutler Lab

Gene Symbol

Olfr1212

Ensembl Gene

ENSMUSG00000048226

Gene Name

olfactory receptor 1212

Synonyms

GA_x6K02T2Q125-50437014-50437949, MOR233-20, MOR233-17

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88953969-88961313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88959048 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 194 (Y194S)

Ref Sequence

ENSEMBL: ENSMUSP00000149781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055895] [ENSMUST00000215781]

Predicted Effect

probably benign
Transcript: ENSMUST00000055895
AA Change: Y194S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000052837
Gene: ENSMUSG00000048226
AA Change: Y194S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.9e-46	PFAM
Pfam:7tm_1	39	286	7.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215781
AA Change: Y194S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,163,230	D132G	possibly damaging	Het
Abca5	T	C	11: 110,277,611	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,256,600	Q549*	probably null	Het
Adcy4	A	G	14: 55,770,433	I893T	possibly damaging	Het
Ago1	A	T	4: 126,439,505	*858R	probably null	Het
Ank2	T	A	3: 126,958,889	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,648,300	T987A	probably benign	Het
Ap2a1	G	T	7: 44,902,789	N790K	probably benign	Het
Aqr	A	G	2: 114,158,868		probably null	Het
Arel1	G	T	12: 84,941,911	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,987,470	D743G	probably damaging	Het
Atp9a	A	T	2: 168,675,352	F354I	probably benign	Het
Bag6	A	G	17: 35,140,842	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,888,166		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,888,186		probably benign	Het
Bckdk	T	A	7: 127,904,973	S15T	unknown	Het
C4b	G	T	17: 34,731,080	Y1405*	probably null	Het
Camk4	G	A	18: 32,939,545		probably null	Het
Car11	T	A	7: 45,700,318	W16R	probably benign	Het
Ccdc80	A	C	16: 45,096,400	E506D	probably damaging	Het
Chmp6	C	T	11: 119,915,443	Q32*	probably null	Het
Colq	G	A	14: 31,545,086	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,477,285	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,786,657	I93L	unknown	Het
Dnaaf2	T	C	12: 69,197,606	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dnmt3a	G	A	12: 3,904,204	G792D	probably damaging	Het
Dsg4	T	A	18: 20,451,936		probably null	Het
Ecm2	C	T	13: 49,530,342	Q599*	probably null	Het
Fbxl13	T	A	5: 21,523,060	R550*	probably null	Het
Gm4302	A	T	10: 100,341,583	Q243L	unknown	Het
Gm7168	A	T	17: 13,949,013	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,647,491	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,571,141	D320E	probably damaging	Het
Hivep1	T	A	13: 42,157,650	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,718,934		probably null	Het
Irs1	T	A	1: 82,287,264	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,876,892	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,891,682	D318G	probably null	Het
L3mbtl3	C	T	10: 26,339,231	V194I	unknown	Het
Malt1	C	A	18: 65,448,211	Q237K	probably benign	Het
March11	C	T	15: 26,311,101	A221V	possibly damaging	Het
Mgea5	G	A	19: 45,767,447	R586*	probably null	Het
Nfe2l3	A	G	6: 51,457,544	I361M	possibly damaging	Het
Nrg1	G	A	8: 31,818,654	R493C	probably damaging	Het
Olfr1019	A	T	2: 85,840,963	V276E	probably damaging	Het
Olfr453	T	C	6: 42,744,805	I256T	probably damaging	Het
Olfr577	G	A	7: 102,973,810	P61S	probably damaging	Het
Olfr828	A	T	9: 18,815,933	Y120*	probably null	Het
Olfr980	T	A	9: 40,006,424	H175L	probably damaging	Het
Orai3	C	T	7: 127,773,627	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066	M328L	probably benign	Het
Pan2	T	C	10: 128,308,440	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,916,265	D980V		Het
Ppp1r16b	T	C	2: 158,761,468	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,787,332	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,352,770	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,566,122	N494S	possibly damaging	Het
Rpl18a	T	C	8: 70,895,506	D147G	probably benign	Het
Scg3	T	C	9: 75,669,277	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 33,893,835	D184V	probably benign	Het
Simc1	T	G	13: 54,524,349	L170R	possibly damaging	Het
Slx4	T	C	16: 3,980,131	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,439,232		probably null	Het
Tas1r3	A	G	4: 155,862,023	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,182,520	D405G	probably damaging	Het
Tcerg1l	G	A	7: 138,259,828	P391S	probably damaging	Het
Tiam1	T	C	16: 89,898,195	S125G	probably benign	Het
Trim16	C	A	11: 62,834,123	H246N	probably damaging	Het
Tti1	T	A	2: 157,995,472	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,232,312	N395S	probably damaging	Het
Uggt1	T	C	1: 36,164,508	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,435,229	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,337,204	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,602,621		probably null	Het
Zcchc14	A	T	8: 121,605,017	S536T	unknown	Het

Other mutations in Olfr1212

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Olfr1212	APN	2	88958766	missense	probably damaging	0.98
IGL01398:Olfr1212	APN	2	88958849	missense	probably damaging	1.00
IGL01537:Olfr1212	APN	2	88958541	missense	probably benign	0.00
IGL02197:Olfr1212	APN	2	88958684	missense	probably benign	0.05
IGL02557:Olfr1212	APN	2	88958681	missense	probably benign	0.00
R0276:Olfr1212	UTSW	2	88958755	nonsense	probably null
R0568:Olfr1212	UTSW	2	88959043	nonsense	probably null
R0699:Olfr1212	UTSW	2	88958616	missense	probably benign	0.31
R1101:Olfr1212	UTSW	2	88958984	missense	possibly damaging	0.60
R1205:Olfr1212	UTSW	2	88958588	missense	probably benign	0.00
R1468:Olfr1212	UTSW	2	88959043	nonsense	probably null
R1468:Olfr1212	UTSW	2	88959043	nonsense	probably null
R1845:Olfr1212	UTSW	2	88958867	missense	probably damaging	0.99
R2031:Olfr1212	UTSW	2	88959299	missense	probably benign	0.19
R2418:Olfr1212	UTSW	2	88959036	missense	probably benign	0.01
R2419:Olfr1212	UTSW	2	88959036	missense	probably benign	0.01
R3781:Olfr1212	UTSW	2	88958747	nonsense	probably null
R4049:Olfr1212	UTSW	2	88959273	missense	probably benign	0.09
R4440:Olfr1212	UTSW	2	88959341	missense	probably benign	0.22
R4583:Olfr1212	UTSW	2	88959212	missense	probably damaging	0.99
R4646:Olfr1212	UTSW	2	88959212	missense	probably damaging	0.99
R4648:Olfr1212	UTSW	2	88959212	missense	probably damaging	0.99
R4674:Olfr1212	UTSW	2	88958872	missense	probably damaging	0.98
R4851:Olfr1212	UTSW	2	88958586	missense	probably damaging	1.00
R4971:Olfr1212	UTSW	2	88958519	missense	probably damaging	1.00
R5610:Olfr1212	UTSW	2	88958826	missense	probably damaging	1.00
R5805:Olfr1212	UTSW	2	88958641	missense	possibly damaging	0.50
R5887:Olfr1212	UTSW	2	88958754	missense	possibly damaging	0.60
R6023:Olfr1212	UTSW	2	88958715	missense	possibly damaging	0.76
R6118:Olfr1212	UTSW	2	88959118	nonsense	probably null
R7542:Olfr1212	UTSW	2	88958775	missense	probably benign	0.01
R7612:Olfr1212	UTSW	2	88958505	missense	probably damaging	1.00
R7972:Olfr1212	UTSW	2	88958833	nonsense	probably null
R8422:Olfr1212	UTSW	2	88958997	missense	probably benign	0.05
Z1177:Olfr1212	UTSW	2	88959377	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAAGCCCTTACACTACTC -3'
(R):5'- TGATGCAGATGTAGATCGTGC -3'

Sequencing Primer
(F):5'- CTTCCATAATGAACTGGAGGCTCTG -3'
(R):5'- GCAGATGTAGATCGTGCATATATG -3'

Posted On

2019-10-17