Mutagenetix > Incidental Mutations

Incidental Mutation 'R0344:Olfr1031'

26407

Institutional Source

Beutler Lab

Gene Symbol

Olfr1031

Ensembl Gene

ENSMUSG00000043267

Gene Name

olfactory receptor 1031

Synonyms

GA_x6K02T2Q125-47470765-47471775, MOR200-1

MMRRC Submission

038551-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85990304-85993704 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 85992382 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 188 (C188*)

Ref Sequence

ENSEMBL: ENSMUSP00000149225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050942] [ENSMUST00000056849] [ENSMUST00000216807]

Predicted Effect

probably null
Transcript: ENSMUST00000050942
AA Change: C188*

SMART Domains

Protein: ENSMUSP00000059256
Gene: ENSMUSG00000043267
AA Change: C188*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.1e-55	PFAM
Pfam:7tm_1	40	289	6.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056849

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	2.4e-58	PFAM
Pfam:7tm_1	47	296	3.2e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000216807
AA Change: C188*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,820,301	C29*	probably null	Het
Abca4	G	A	3: 122,083,964	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,836,933		probably benign	Het
Abr	A	T	11: 76,479,044	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,865,595		probably null	Het
Aff3	A	T	1: 38,203,932	S936T	probably benign	Het
Agap3	T	C	5: 24,451,202		probably benign	Het
Ahrr	T	A	13: 74,214,586	S393C	probably damaging	Het
Amfr	T	C	8: 93,987,370		probably null	Het
Ankrd26	C	A	6: 118,507,637		probably null	Het
Asxl3	G	A	18: 22,517,611	V886I	probably benign	Het
Atp5a1	C	A	18: 77,780,195	N356K	probably damaging	Het
Atp5s	T	C	12: 69,740,889		probably benign	Het
AU021092	A	T	16: 5,222,167	M31K	possibly damaging	Het
Bicral	A	G	17: 46,814,052		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,850,772	D162G	probably benign	Het
Camkk2	C	T	5: 122,763,877	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079	I1051F	probably damaging	Het
Catsperg1	A	T	7: 29,195,540	V544E	probably damaging	Het
Cdc27	G	A	11: 104,526,991		probably benign	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Dennd6b	T	C	15: 89,196,229	Q56R	probably benign	Het
Fbxl17	G	A	17: 63,385,067		probably benign	Het
Fubp1	T	C	3: 152,219,713	V164A	probably damaging	Het
Gdap2	G	A	3: 100,178,256	G165S	probably damaging	Het
Gm13084	A	T	4: 143,810,768	I331N	probably damaging	Het
Gns	A	G	10: 121,383,423	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,191,249	T22M	probably damaging	Het
Herc3	A	G	6: 58,868,628		probably benign	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Inpp1	A	T	1: 52,799,354	F45L	probably damaging	Het
Ipo4	T	C	14: 55,625,942	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,118,147	K485E	probably benign	Het
Jak2	G	A	19: 29,283,629	V342I	probably damaging	Het
Kptn	C	A	7: 16,125,741	Q297K	probably damaging	Het
Lims2	A	G	18: 31,944,520	E103G	probably benign	Het
Mthfr	C	G	4: 148,055,428	S618W	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nup133	A	G	8: 123,917,446	V727A	possibly damaging	Het
Oas2	T	G	5: 120,743,087	E313A	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr487	A	T	7: 108,211,742	Y262*	probably null	Het
Olfr691	C	A	7: 105,337,607	M36I	probably benign	Het
Olfr961	G	A	9: 39,647,350	C208Y	probably damaging	Het
Park7	A	G	4: 150,908,349	V20A	possibly damaging	Het
Phldb1	C	A	9: 44,701,667	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,597,011	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,566,266	E449*	probably null	Het
Pstpip1	T	C	9: 56,126,645	V301A	probably benign	Het
Ptdss1	G	A	13: 66,933,572	R22H	probably damaging	Het
Ptprq	A	G	10: 107,705,582	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,346,794	V1309E	possibly damaging	Het
Rere	T	C	4: 150,610,981		probably benign	Het
Sbk3	T	A	7: 4,967,405	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,505,010	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,326,131		probably benign	Het
Sik3	C	A	9: 46,208,811	Q683K	probably damaging	Het
Slc24a5	A	G	2: 125,085,701	I307V	probably benign	Het
Smg6	A	G	11: 74,929,821	D306G	probably damaging	Het
Snx13	G	A	12: 35,086,900	W120*	probably null	Het
Snx5	A	G	2: 144,257,208		probably benign	Het
Srsf5	T	C	12: 80,947,524	S76P	probably benign	Het
Stard6	A	G	18: 70,496,115	D31G	probably damaging	Het
Taf3	A	G	2: 9,951,898	M333T	probably benign	Het
Taf6	T	G	5: 138,181,147	I377L	probably benign	Het
Taf8	G	T	17: 47,493,580	N252K	probably benign	Het
Tfap2c	A	G	2: 172,551,503	T113A	probably benign	Het
Tmem246	T	C	4: 49,586,566	T201A	probably benign	Het
Tmtc4	C	T	14: 122,978,160	V25M	probably damaging	Het
Topbp1	T	A	9: 103,308,733		probably benign	Het
Topbp1	T	A	9: 103,328,687	D841E	probably damaging	Het
Ttn	A	T	2: 76,712,489	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,930,785	E928G	probably benign	Het
Vav1	T	C	17: 57,296,090	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,903,618	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,479,937	E87K	probably damaging	Het
Zfp229	A	T	17: 21,745,841	M351L	probably benign	Het

Other mutations in Olfr1031

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Olfr1031	APN	2	85992386	missense	probably damaging	1.00
IGL02475:Olfr1031	APN	2	85992032	missense	probably benign	0.19
IGL03230:Olfr1031	APN	2	85992239	missense	probably benign	0.00
IGL03405:Olfr1031	APN	2	85991886	missense	possibly damaging	0.84
PIT4151001:Olfr1031	UTSW	2	85992194	missense	probably damaging	0.96
PIT4366001:Olfr1031	UTSW	2	85992041	missense	probably damaging	1.00
R1168:Olfr1031	UTSW	2	85992684	missense	probably damaging	1.00
R1170:Olfr1031	UTSW	2	85992696	missense	probably damaging	1.00
R2345:Olfr1031	UTSW	2	85991822	missense	probably benign	0.01
R2915:Olfr1031	UTSW	2	85992045	missense	probably damaging	1.00
R3498:Olfr1031	UTSW	2	85992430	missense	probably benign	0.43
R4058:Olfr1031	UTSW	2	85992232	missense	possibly damaging	0.87
R4747:Olfr1031	UTSW	2	85991927	missense	probably damaging	1.00
R4859:Olfr1031	UTSW	2	85992731	missense	probably damaging	0.96
R4991:Olfr1031	UTSW	2	85992287	missense	probably damaging	0.99
R5438:Olfr1031	UTSW	2	85992581	missense	probably damaging	1.00
R6362:Olfr1031	UTSW	2	85991941	missense	probably damaging	1.00
R7458:Olfr1031	UTSW	2	85992650	missense	probably damaging	1.00
R7535:Olfr1031	UTSW	2	85991901	missense	probably benign	0.37
R8807:Olfr1031	UTSW	2	85992828	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTCATCAAGGCCAATGCCAG -3'
(R):5'- TCATGGGGTTCAACATGGGAATGAC -3'

Sequencing Primer
(F):5'- AACCCTCTGCTTTATGGTAGCAAG -3'
(R):5'- CCACAGACTCTCTAGATGTTGG -3'

Posted On

2013-04-16