Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Olfr933'

33859

Institutional Source

Beutler Lab

Gene Symbol

Olfr933

Ensembl Gene

ENSMUSG00000058515

Gene Name

olfactory receptor 933

Synonyms

GA_x6K02T2PVTD-32671531-32672457, MOR171-22

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38972313-38979861 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38976278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 201 (I201V)

Ref Sequence

ENSEMBL: ENSMUSP00000149292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075680] [ENSMUST00000214324] [ENSMUST00000216238] [ENSMUST00000216823]

AlphaFold

Q9EQA0

Predicted Effect

probably benign
Transcript: ENSMUST00000075680
AA Change: I201V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075102
Gene: ENSMUSG00000058515
AA Change: I201V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-50	PFAM
Pfam:7tm_1	41	290	3.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214324

Predicted Effect

probably benign
Transcript: ENSMUST00000216238
AA Change: I201V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216823

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	G	A	18: 38,261,264	V505I	probably benign	Het
4931417E11Rik	A	G	6: 73,469,419	L49P	possibly damaging	Het
Abca16	T	A	7: 120,540,155	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328	V70L	probably benign	Het
AW549877	T	C	15: 3,986,294	K263E	probably damaging	Het
Bicd1	T	C	6: 149,512,950	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941		probably null	Het
Chn2	T	C	6: 54,290,451		probably benign	Het
Col18a1	T	C	10: 77,088,914	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035	I461T	probably benign	Het
Dnlz	T	C	2: 26,351,368	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710	N736S	probably damaging	Het
F11	T	C	8: 45,249,077	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495		probably benign	Het
Gm10936	G	A	10: 117,248,130		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184	D131E	probably benign	Het
Hira	T	A	16: 18,956,171	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037		probably benign	Het
Il3	A	G	11: 54,265,680		probably null	Het
Itgae	A	C	11: 73,111,342	M91L	probably benign	Het
Kat2b	A	G	17: 53,641,210	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694		probably benign	Het
Lgi3	A	T	14: 70,532,821	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754		probably benign	Het
Lrp1b	T	C	2: 40,596,983	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983		probably benign	Het
Miox	C	T	15: 89,334,454		probably benign	Het
Mndal	A	T	1: 173,857,513		probably benign	Het
Mug2	G	T	6: 122,074,714	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437	T29S	probably damaging	Het
Olfr1055	T	C	2: 86,347,728	I13V	possibly damaging	Het
Olfr307	A	G	7: 86,335,595	I267T	probably benign	Het
Olfr729	T	G	14: 50,148,635	K80Q	probably damaging	Het
Phf3	A	T	1: 30,805,065	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105	S224R	probably damaging	Het
Siglecg	G	A	7: 43,411,171	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605	K645E	probably benign	Het
St14	T	A	9: 31,108,284		probably null	Het
Tas2r120	T	A	6: 132,657,589	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256	S32P	probably damaging	Het
Ttn	T	A	2: 76,710,124	R34173W	probably damaging	Het
Ttn	C	A	2: 76,793,130	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,063,258	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073		probably benign	Het
Zyg11a	G	A	4: 108,204,641	T321I	probably damaging	Het

Other mutations in Olfr933

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Olfr933	APN	9	38976614	unclassified	probably benign
IGL03057:Olfr933	APN	9	38976218	missense	probably benign	0.04
R0234:Olfr933	UTSW	9	38976251	splice site	probably null
R0234:Olfr933	UTSW	9	38976251	splice site	probably null
R1479:Olfr933	UTSW	9	38975762	missense	probably benign
R1710:Olfr933	UTSW	9	38975906	missense	probably damaging	0.97
R1717:Olfr933	UTSW	9	38976410	missense	probably damaging	1.00
R1865:Olfr933	UTSW	9	38975904	missense	probably benign	0.01
R2258:Olfr933	UTSW	9	38976000	missense	probably benign	0.02
R2259:Olfr933	UTSW	9	38976000	missense	probably benign	0.02
R2260:Olfr933	UTSW	9	38976000	missense	probably benign	0.02
R4155:Olfr933	UTSW	9	38976155	missense	probably damaging	0.99
R4299:Olfr933	UTSW	9	38975759	missense	probably damaging	1.00
R4452:Olfr933	UTSW	9	38976086	missense	probably benign	0.02
R5379:Olfr933	UTSW	9	38975855	missense	possibly damaging	0.81
R6340:Olfr933	UTSW	9	38975766	missense	probably damaging	1.00
R6497:Olfr933	UTSW	9	38976194	missense	probably benign
R7039:Olfr933	UTSW	9	38975987	missense	probably damaging	1.00
R7378:Olfr933	UTSW	9	38975721	missense	probably benign
R7453:Olfr933	UTSW	9	38976204	missense	probably damaging	1.00
R7732:Olfr933	UTSW	9	38976264	missense	probably damaging	1.00
R7762:Olfr933	UTSW	9	38976194	missense	probably benign
R9018:Olfr933	UTSW	9	38976391	missense	probably benign	0.22
R9062:Olfr933	UTSW	9	38976125	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACAGTCAGTCCACTGCTGCATAC -3'
(R):5'- ATCCCCACAGCCATGAGATGAGAG -3'

Sequencing Primer
(F):5'- CCCAAAATGCTGGTGAACTTTC -3'
(R):5'- TGCAGGTTCCAAAGGCTT -3'

Posted On

2013-05-09