Mutagenetix > Incidental Mutation

Incidental Mutation 'R4943:Olfr630'

383268

Institutional Source

Beutler Lab

Gene Symbol

Olfr630

Ensembl Gene

ENSMUSG00000050281

Gene Name

olfactory receptor 630

Synonyms

MOR17-1, GA_x6K02T2PBJ9-6483085-6482126

MMRRC Submission

042540-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103753480-103757333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103755296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 96 (F96L)

Ref Sequence

ENSEMBL: ENSMUSP00000102493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106880]

AlphaFold

Q9EQQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000106880
AA Change: F96L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: F96L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	305	3.7e-8	PFAM
Pfam:7tm_1	43	294	8.4e-25	PFAM
Pfam:7tm_4	144	287	9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217072

Meta Mutation Damage Score

0.1033

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,245,327	T366K	possibly damaging	Het
2510039O18Rik	T	A	4: 147,945,098	H508Q	probably damaging	Het
Actl9	G	A	17: 33,433,085	V40M	possibly damaging	Het
Aen	T	A	7: 78,902,361	V23E	probably damaging	Het
Agbl1	G	A	7: 76,420,016	R432K	probably benign	Het
Akap13	T	A	7: 75,749,240	F2689I	probably benign	Het
Arhgap45	A	G	10: 80,026,503	S475G	probably benign	Het
Atg7	A	C	6: 114,697,084	Q231P	probably benign	Het
Calr3	A	T	8: 72,431,377	V226D	probably benign	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cops4	A	T	5: 100,547,426	M404L	probably benign	Het
Cpne4	A	T	9: 105,019,773	H375L	probably damaging	Het
D16Ertd472e	A	T	16: 78,575,989	V20D	probably damaging	Het
Dcun1d5	T	C	9: 7,186,844	F55L	possibly damaging	Het
Dhx8	T	A	11: 101,737,700	L93*	probably null	Het
Dtx4	A	G	19: 12,501,060	L53P	probably damaging	Het
Ern2	C	T	7: 122,173,258	R659H	possibly damaging	Het
Etl4	G	A	2: 20,807,281	A1392T	probably benign	Het
Fat2	T	C	11: 55,279,033	R2967G	probably benign	Het
Fat4	A	G	3: 38,980,173	D2658G	probably benign	Het
Ftsj3	A	G	11: 106,249,518	V808A	probably damaging	Het
Gm10447	A	T	11: 53,456,389	Y104*	probably null	Het
Gm27013	A	T	6: 130,676,200	C766*	probably null	Het
Gm438	T	A	4: 144,777,720	E287V	probably benign	Het
Gm5581	A	G	6: 131,167,125		noncoding transcript	Het
Gpr158	G	A	2: 21,827,157	V1023I	probably damaging	Het
Hectd2	T	G	19: 36,604,247		probably null	Het
Hmcn2	T	C	2: 31,335,492	Y138H	probably damaging	Het
Kif28	T	C	1: 179,713,951	I369V	probably benign	Het
Kif4-ps	C	T	12: 101,149,217		noncoding transcript	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Map3k20	G	A	2: 72,371,918	M164I	possibly damaging	Het
Map4k4	A	G	1: 40,019,594	I1050V	probably damaging	Het
Med23	T	A	10: 24,875,669	V133D	possibly damaging	Het
Mycn	A	T	12: 12,937,079	L439Q	probably damaging	Het
Myh2	G	T	11: 67,197,317	A1920S	probably damaging	Het
Myom3	T	C	4: 135,814,274	V1392A	possibly damaging	Het
Nktr	T	A	9: 121,719,954		probably benign	Het
Nme3	A	G	17: 24,896,723	K48E	probably damaging	Het
Nt5dc1	T	C	10: 34,310,391	R58G	probably damaging	Het
Nup205	A	G	6: 35,224,639	E1270G	probably damaging	Het
Olfr106-ps	G	T	17: 37,395,025	A162S	probably benign	Het
Olfr1509	C	G	14: 52,450,594	Y60*	probably null	Het
Olfr898	C	T	9: 38,349,628	H176Y	probably damaging	Het
Pclo	T	C	5: 14,712,637	L3708P	unknown	Het
Pde4dip	A	T	3: 97,755,511	N590K	probably damaging	Het
Prokr1	A	C	6: 87,581,824	I193S	possibly damaging	Het
Pxdc1	C	A	13: 34,639,006		probably null	Het
Rapgef2	A	T	3: 79,064,547	S1494T	probably benign	Het
Rbms3	G	C	9: 116,678,505		probably benign	Het
Reep3	T	A	10: 67,096,263		probably benign	Het
Rwdd2b	T	C	16: 87,434,534	K244R	possibly damaging	Het
Srrm2	T	C	17: 23,822,415	V2533A	possibly damaging	Het
Stab2	T	C	10: 86,954,162	Y580C	probably damaging	Het
Stac2	G	T	11: 98,041,572	S198R	probably benign	Het
Tdp2	T	A	13: 24,838,265	N222K	probably benign	Het
Tex21	A	G	12: 76,221,700	S103P	probably damaging	Het
Thbs1	A	T	2: 118,113,449	I183F	probably damaging	Het
Tm9sf1	T	C	14: 55,641,168	I256V	probably damaging	Het
Tmem207	C	T	16: 26,517,853	W50*	probably null	Het
Trpm2	C	A	10: 77,966,007	V75L	probably damaging	Het
Vmn1r227	A	T	17: 20,735,361		noncoding transcript	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r75	A	T	7: 86,165,497	S263T	probably damaging	Het
Wdr64	G	A	1: 175,720,316	V140I	probably benign	Het
Xpo4	T	C	14: 57,638,240	I145M	possibly damaging	Het
Zan	G	A	5: 137,457,890	T1336I	unknown	Het
Zdbf2	G	T	1: 63,302,914	V151F	possibly damaging	Het
Zfhx3	T	C	8: 108,948,317	S2000P	probably damaging	Het
Zfp65	T	A	13: 67,710,980	I12F	probably damaging	Het
Zfp703	C	A	8: 26,979,591	Q428K	probably benign	Het
Zfp947	A	C	17: 22,145,832	M287R	probably benign	Het
Zfp976	A	T	7: 42,612,422		probably benign	Het

Other mutations in Olfr630

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Olfr630	APN	7	103755006	missense	probably damaging	1.00
IGL01111:Olfr630	APN	7	103755373	missense	probably benign	0.07
IGL02456:Olfr630	APN	7	103755493	missense	possibly damaging	0.94
IGL03173:Olfr630	APN	7	103754976	missense	probably benign	0.00
R1104:Olfr630	UTSW	7	103754976	missense	probably benign	0.00
R1507:Olfr630	UTSW	7	103755021	missense	probably benign	0.00
R1695:Olfr630	UTSW	7	103754924	nonsense	probably null
R1966:Olfr630	UTSW	7	103755168	missense	probably damaging	1.00
R1971:Olfr630	UTSW	7	103755320	nonsense	probably null
R2696:Olfr630	UTSW	7	103755528	missense	probably damaging	0.96
R5622:Olfr630	UTSW	7	103755169	missense	probably damaging	0.99
R6365:Olfr630	UTSW	7	103755195	missense	probably benign	0.00
R7592:Olfr630	UTSW	7	103755072	missense	probably damaging	1.00
R8146:Olfr630	UTSW	7	103755303	missense	probably damaging	1.00
R8283:Olfr630	UTSW	7	103754812	missense	possibly damaging	0.51
R8867:Olfr630	UTSW	7	103754686	nonsense	probably null
R8875:Olfr630	UTSW	7	103755255	missense	probably damaging	1.00
R9658:Olfr630	UTSW	7	103754821	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTGAGCAGAGCAGCAGTTC -3'
(R):5'- GGCTATGAGGAATTTCATCACTGG -3'

Sequencing Primer
(F):5'- GAGCAGCAGTTCCAATCTTG -3'
(R):5'- GAGGAATTTCATCACTGGATTTCC -3'

Posted On

2016-04-27