Mutagenetix > Incidental Mutation

Incidental Mutation 'R1695:Olfr630'

192126

Institutional Source

Beutler Lab

Gene Symbol

Olfr630

Ensembl Gene

ENSMUSG00000050281

Gene Name

olfactory receptor 630

Synonyms

MOR17-1, GA_x6K02T2PBJ9-6483085-6482126

MMRRC Submission

039728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103753480-103757333 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 103754924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 220 (Y220*)

Ref Sequence

ENSEMBL: ENSMUSP00000102493 (fasta)

Gene Model

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

AlphaFold

Q9EQQ7

Predicted Effect

probably null
Transcript: ENSMUST00000052826
AA Change: Y220*

SMART Domains

Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: Y220*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	3.4e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	305	3.7e-8	PFAM
Pfam:7tm_1	43	294	1.1e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106880
AA Change: Y220*

SMART Domains

Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: Y220*

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610301B20Rik	T	A	4: 10,874,644	D10E	probably damaging	Het
Adam1b	T	A	5: 121,500,907	T692S	probably benign	Het
Adgrf3	T	A	5: 30,203,555	N75I	probably benign	Het
Adgrg5	A	G	8: 94,937,745	M328V	probably damaging	Het
Adk	A	G	14: 21,381,600	D286G	probably benign	Het
Ankrd28	T	A	14: 31,707,244	D917V	probably damaging	Het
Appl2	C	T	10: 83,621,582	D141N	probably damaging	Het
Arfgef2	T	C	2: 166,864,712	V952A	probably damaging	Het
Arpc2	T	A	1: 74,248,232	H70Q	probably damaging	Het
Bpifa5	T	C	2: 154,167,660	L261P	probably damaging	Het
Brca1	G	T	11: 101,524,455	T951K	probably damaging	Het
Ccdc189	A	G	7: 127,587,573		probably null	Het
Ccdc73	A	T	2: 104,992,105	S800C	probably damaging	Het
Cdh15	C	G	8: 122,862,016	D276E	probably benign	Het
Cfh	T	C	1: 140,102,837	I551V	probably damaging	Het
Chd7	T	A	4: 8,833,960	L1238Q	probably damaging	Het
Chd9	T	G	8: 91,001,782	F1275L	probably damaging	Het
Chrnb3	A	G	8: 27,393,700	Y155C	probably damaging	Het
Cltc	C	A	11: 86,701,060		probably null	Het
Ctsll3	T	A	13: 60,800,977	N55Y	probably damaging	Het
Cysltr2	T	C	14: 73,029,881	M130V	probably benign	Het
Daglb	T	C	5: 143,494,606	M455T	probably benign	Het
Dbn1	A	G	13: 55,476,708	S343P	probably benign	Het
Dnah2	T	A	11: 69,514,691	D665V	possibly damaging	Het
Dusp6	T	A	10: 99,263,693	M1K	probably null	Het
Eif3m	T	C	2: 105,016,953	E12G	probably damaging	Het
Epha2	T	C	4: 141,306,517	V29A	possibly damaging	Het
Fam160b1	T	C	19: 57,379,171	W337R	probably damaging	Het
Farp2	T	A	1: 93,560,325	N91K	probably damaging	Het
Ferd3l	C	A	12: 33,928,972	S161R	probably benign	Het
Fgd2	A	T	17: 29,368,245	D315V	possibly damaging	Het
Fstl4	T	A	11: 53,165,878		probably null	Het
Grm5	A	G	7: 88,036,103	D476G	possibly damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hdlbp	A	G	1: 93,437,200	L115P	probably damaging	Het
Hk2	T	A	6: 82,744,951	N136Y	probably damaging	Het
Hs2st1	G	T	3: 144,434,654	A302E	probably benign	Het
Htr7	T	C	19: 35,969,736	N293D	probably benign	Het
Ikbkb	T	A	8: 22,673,480	E271D	probably benign	Het
Il5ra	A	T	6: 106,738,374	Y166*	probably null	Het
Il9r	T	A	11: 32,193,227	H244L	probably benign	Het
Itih4	T	C	14: 30,891,499		probably null	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Large1	A	T	8: 72,818,082	D689E	probably damaging	Het
Limk2	A	G	11: 3,353,275		probably null	Het
Med15	A	G	16: 17,722,780	F34S	probably damaging	Het
Mprip	C	T	11: 59,752,531	T505I	probably damaging	Het
Mtor	T	A	4: 148,538,907	N2071K	probably benign	Het
Muc16	A	G	9: 18,497,433	L2522P	probably damaging	Het
Myd88	A	T	9: 119,337,842		probably null	Het
Myo7a	A	C	7: 98,092,496	F484V	possibly damaging	Het
Nme1	A	C	11: 93,960,767	L81R	probably benign	Het
Ntn4	T	A	10: 93,733,602		probably null	Het
Olfr1180	T	C	2: 88,412,100	D186G	probably damaging	Het
Olfr1383	T	C	11: 49,524,335	V204A	probably benign	Het
Otogl	T	G	10: 107,814,017	N1159T	probably damaging	Het
Pabpc6	G	A	17: 9,668,074	T516I	probably benign	Het
Pcdh1	C	T	18: 38,202,868	R238H	probably damaging	Het
Pex5l	T	A	3: 32,954,382	N151I	probably benign	Het
Plekha7	T	C	7: 116,128,685	N980S	probably damaging	Het
Reg4	C	T	3: 98,236,361	T157I	probably benign	Het
Rev3l	G	T	10: 39,824,615	E1703*	probably null	Het
Rev3l	A	T	10: 39,824,616	E1703V	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,579,907		probably benign	Het
Saal1	T	C	7: 46,692,916	K368E	probably damaging	Het
Scn9a	C	T	2: 66,504,876	W1245*	probably null	Het
Slc38a11	T	A	2: 65,316,971	L387F	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Sptb	C	A	12: 76,620,867	V819L	probably benign	Het
Sptbn1	T	C	11: 30,136,124	T1195A	probably benign	Het
Ssna1	C	A	2: 25,272,012	V57F	possibly damaging	Het
Stk32a	G	T	18: 43,313,420	E312*	probably null	Het
Synpo	A	G	18: 60,603,387	F496L	probably benign	Het
Syt15	C	T	14: 34,222,901	T135M	probably benign	Het
Tm9sf4	A	G	2: 153,190,912	E246G	probably benign	Het
Trim44	T	C	2: 102,357,485	M308V	possibly damaging	Het
Unc119b	T	A	5: 115,134,826	K29*	probably null	Het
Vim	T	A	2: 13,580,110	D367E	probably benign	Het
Virma	T	A	4: 11,494,814	N38K	probably damaging	Het
Vmn1r228	A	T	17: 20,776,298	D319E	possibly damaging	Het
Vmn2r32	T	A	7: 7,463,992	I846F	probably benign	Het
Vps13b	T	C	15: 35,576,521	V1025A	probably benign	Het
Vps13c	G	T	9: 67,972,075	E566*	probably null	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
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
R4943:Olfr630	UTSW	7	103755296	missense	probably benign	0.12
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'- GCCTGTCTTGACTTGATGACATGCC -3'
(R):5'- AGATTGGAACTGCTGCTCTGCTC -3'

Sequencing Primer
(F):5'- CACACTGTAGATGATTGGGTTAAG -3'
(R):5'- AACTGCTGCTCTGCTCAGAAG -3'

Posted On

2014-05-14