Mutagenetix > Incidental Mutation

Incidental Mutation 'R1971:Olfr630'

220863

Institutional Source

Beutler Lab

Gene Symbol

Olfr630

Ensembl Gene

ENSMUSG00000050281

Gene Name

olfactory receptor 630

Synonyms

MOR17-1, GA_x6K02T2PBJ9-6483085-6482126

MMRRC Submission

039984-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103753480-103757333 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 103755320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 88 (W88*)

Ref Sequence

ENSEMBL: ENSMUSP00000102493 (fasta)

Gene Model

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

AlphaFold

Q9EQQ7

Predicted Effect

probably null
Transcript: ENSMUST00000052826
AA Change: W88*

SMART Domains

Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: W88*

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: W88*

SMART Domains

Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: W88*

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

0.9717

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (115/116)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,796,554	I242N	probably benign	Het
2510009E07Rik	G	T	16: 21,653,298	Y217*	probably null	Het
4931429L15Rik	C	T	9: 46,308,788	V149M	probably benign	Het
9030624J02Rik	A	C	7: 118,775,334	R352S	probably damaging	Het
9530053A07Rik	C	A	7: 28,131,512	A50E	possibly damaging	Het
Abcg8	G	T	17: 84,695,159		probably benign	Het
Acox1	A	G	11: 116,198,261	F77S	probably benign	Het
Adgrb3	G	T	1: 25,547,444	H389Q	probably benign	Het
Ak7	A	G	12: 105,726,245	N186S	probably damaging	Het
Apobr	A	G	7: 126,586,225	T303A	probably benign	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
Bcl9l	T	C	9: 44,508,699		probably null	Het
Bco2	T	C	9: 50,545,984	D86G	probably damaging	Het
Bmpr1b	T	A	3: 141,857,572	I204F	probably damaging	Het
Bpifb5	C	A	2: 154,230,344	Q324K	probably benign	Het
Cacna2d2	G	A	9: 107,512,006	V223I	probably damaging	Het
Capn3	A	G	2: 120,480,747	D105G	possibly damaging	Het
Ccdc40	G	T	11: 119,263,075		probably null	Het
Ccdc83	T	A	7: 90,244,154	S132C	probably damaging	Het
Ckap2l	A	G	2: 129,285,422	S279P	possibly damaging	Het
Cldn12	C	A	5: 5,508,137	A97S	probably benign	Het
Clec2l	T	G	6: 38,663,374	S47A	probably benign	Het
Csnk1d	C	A	11: 120,972,448	R222M	possibly damaging	Het
Ctnna1	T	A	18: 35,154,527	D96E	probably benign	Het
D630045J12Rik	T	C	6: 38,168,143	D1316G	probably damaging	Het
D730048I06Rik	T	A	9: 35,789,013	H92L	probably benign	Het
Ddx4	C	T	13: 112,600,013	V608I	probably damaging	Het
Dmtf1	T	C	5: 9,148,989	E48G	probably benign	Het
Dnah17	G	C	11: 118,104,535	Q996E	probably benign	Het
Dnah9	G	C	11: 65,848,371	N4180K	probably damaging	Het
Dpf3	T	A	12: 83,325,035		probably null	Het
Drd2	T	C	9: 49,407,059	F434L	probably damaging	Het
En1	A	G	1: 120,607,013	T344A	unknown	Het
Eri3	A	G	4: 117,564,767	T81A	probably benign	Het
Fam20a	T	C	11: 109,685,411	Y174C	probably damaging	Het
Fam234a	G	C	17: 26,216,655		probably null	Het
Fam76a	A	T	4: 132,903,983	I217N	probably damaging	Het
Fancm	T	A	12: 65,101,692	S694T	probably benign	Het
Foxo3	A	G	10: 42,197,262	S420P	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Gm136	T	G	4: 34,755,986	D9A	probably benign	Het
Gstt2	G	T	10: 75,832,665	T116N	probably benign	Het
Hs3st6	A	G	17: 24,753,293	T70A	probably benign	Het
Hspa14	A	G	2: 3,489,767	V461A	possibly damaging	Het
Itih5	A	T	2: 10,238,568	D372V	probably damaging	Het
Kcna2	A	T	3: 107,104,824	R240S	probably damaging	Het
Kctd18	T	C	1: 57,967,620	I24V	probably benign	Het
Lap3	T	C	5: 45,506,166		probably benign	Het
Lcp1	T	C	14: 75,200,506	S119P	probably damaging	Het
Lig3	G	C	11: 82,795,718	D642H	probably benign	Het
Lpin1	A	T	12: 16,580,723	L58H	probably damaging	Het
Map4k5	G	T	12: 69,826,328	P468Q	possibly damaging	Het
Med31	G	A	11: 72,215,418		probably benign	Het
Mki67	A	T	7: 135,713,959		probably null	Het
Mrc1	G	A	2: 14,244,292		probably null	Het
Msh3	A	G	13: 92,223,276	I16T	probably damaging	Het
Msh3	T	A	13: 92,249,820		probably benign	Het
Mst1r	A	T	9: 107,913,212	I675F	probably benign	Het
Myb	A	C	10: 21,140,656	S652A	probably benign	Het
Myh2	G	T	11: 67,189,178	S1099I	possibly damaging	Het
Myl6b	A	G	10: 128,494,643	V181A	probably damaging	Het
Myt1l	A	T	12: 29,827,092	K247N	unknown	Het
Nanos2	G	T	7: 18,987,704	V34L	probably benign	Het
Nav1	T	C	1: 135,532,353	T411A	probably benign	Het
Nedd9	T	A	13: 41,338,948	I23F	probably damaging	Het
Nes	G	A	3: 87,978,327	V1254I	possibly damaging	Het
Nol6	A	G	4: 41,119,542	F588S	probably damaging	Het
Numa1	C	T	7: 102,009,322	A1605V	probably damaging	Het
Ofd1	T	C	X: 166,427,214	Y205C	probably benign	Het
Olfr1223	A	T	2: 89,144,734	C96*	probably null	Het
Olfr390	T	A	11: 73,787,790	M284K	probably damaging	Het
Olfr633	A	T	7: 103,946,943	I126F	probably damaging	Het
Olfr693	T	A	7: 106,677,670	N272I	probably damaging	Het
Olr1	T	C	6: 129,493,535	E223G	probably benign	Het
Pclo	A	G	5: 14,713,473	T3987A	unknown	Het
Pik3cg	A	T	12: 32,192,153	V986D	probably damaging	Het
Pitpnm1	T	A	19: 4,112,450	D1093E	probably damaging	Het
Ppp1r12b	T	C	1: 134,865,913	D571G	probably benign	Het
Rfx1	A	G	8: 84,095,497	E875G	probably damaging	Het
Rnf145	T	A	11: 44,548,815	I146N	probably damaging	Het
Rttn	G	A	18: 89,090,433	R1587H	probably benign	Het
Safb	A	G	17: 56,605,821	H883R	probably benign	Het
Sdhb	A	G	4: 140,972,949	D120G	possibly damaging	Het
Serpine3	A	G	14: 62,665,084	N48S	probably damaging	Het
Sgms1	T	A	19: 32,159,957	I70L	probably benign	Het
Slc1a7	G	T	4: 107,968,585	D14Y	probably benign	Het
Smtnl2	C	T	11: 72,411,357	A93T	probably benign	Het
Srpr	T	C	9: 35,213,538		probably null	Het
Taf6l	A	G	19: 8,775,502		probably null	Het
Tbc1d10b	A	T	7: 127,207,864	V167E	probably benign	Het
Tbc1d9	G	A	8: 83,249,510	R566H	probably damaging	Het
Tenm3	A	G	8: 48,236,313	Y2080H	probably damaging	Het
Tex14	A	G	11: 87,511,605	N506S	probably damaging	Het
Thada	G	T	17: 84,310,042	P1349T	probably damaging	Het
Tjp1	G	T	7: 65,324,078	T476K	probably damaging	Het
Tlr11	A	T	14: 50,361,234	T226S	probably benign	Het
Tmem131	G	A	1: 36,804,599	Q1394*	probably null	Het
Tmem161a	C	T	8: 70,176,909	R58W	probably damaging	Het
Tmem219	T	C	7: 126,897,250	S13G	probably benign	Het
Trp53bp1	T	C	2: 121,205,036	Y47C	probably damaging	Het
Ttn	T	A	2: 76,901,578		probably benign	Het
Ush1g	A	G	11: 115,318,454	S305P	probably damaging	Het
Usp37	A	T	1: 74,439,968	Y948*	probably null	Het
Vav1	A	T	17: 57,327,697	Y805F	probably damaging	Het
Vmn1r59	A	T	7: 5,454,039	Y241N	probably damaging	Het
Vmn2r2	T	A	3: 64,126,700	Y467F	probably damaging	Het
Vps54	C	A	11: 21,292,051	L389I	probably damaging	Het
Vwa8	G	T	14: 78,925,254		probably benign	Het
Wdr19	G	T	5: 65,241,160		probably benign	Het
Wnt2b	A	T	3: 104,954,617		probably benign	Het
Xirp2	A	G	2: 67,511,695	R1427G	possibly damaging	Het
Ylpm1	T	C	12: 85,040,786	S1115P	probably damaging	Het
Zfp946	T	A	17: 22,455,425	C387S	probably damaging	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
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'- ACTTCTGAGCAGAGCAGCAG -3'
(R):5'- CCTGGCTATGAGGAATTTCATCAC -3'

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

Posted On

2014-08-25