Mutagenetix > Incidental Mutations

Incidental Mutation 'R7175:Olfr130'

558577

Institutional Source

Beutler Lab

Gene Symbol

Olfr130

Ensembl Gene

ENSMUSG00000094878

Gene Name

olfactory receptor 130

Synonyms

GA_x6K02T2PSCP-2515350-2516303, MOR256-19

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R7175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38063921-38072790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38067479 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 103 (S103T)

Ref Sequence

ENSEMBL: ENSMUSP00000149963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087129] [ENSMUST00000215726] [ENSMUST00000217390]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087129
AA Change: S103T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000084369
Gene: ENSMUSG00000094878
AA Change: S103T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	1.8e-44	PFAM
Pfam:7TM_GPCR_Srsx	34	223	1.9e-5	PFAM
Pfam:7tm_1	40	289	1.9e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215726
AA Change: S103T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217390
AA Change: S103T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,251,789		probably null	Het
4932415D10Rik	T	A	10: 82,286,749	S3476C	probably damaging	Het
Abcb5	G	A	12: 118,867,876	T1247I	probably benign	Het
Afdn	T	C	17: 13,888,607	L1479P	probably damaging	Het
Alox12e	T	C	11: 70,319,708	R363G	probably damaging	Het
Ank2	A	T	3: 126,946,941	S1765T	unknown	Het
Anks6	T	C	4: 47,046,268		probably null	Het
Apob	A	C	12: 8,007,034	I1839L	probably benign	Het
Bdp1	C	A	13: 100,049,970	R1658I	probably damaging	Het
Ccs	T	A	19: 4,833,362	D136V	probably damaging	Het
Cd200	T	C	16: 45,400,215		probably null	Het
Cirbp	T	C	10: 80,170,463	S130P	probably benign	Het
Cpb1	A	G	3: 20,263,763	I199T	probably benign	Het
Csn3	C	T	5: 87,929,727	R31C	probably damaging	Het
Dcaf1	A	T	9: 106,858,576	I908F	probably benign	Het
Dhcr7	C	T	7: 143,845,490	T199I	probably damaging	Het
Dnah9	T	A	11: 66,133,637	Q277L	probably benign	Het
Echdc2	C	A	4: 108,174,169	P237T	probably damaging	Het
Eif4g3	A	G	4: 138,126,215	N364S	probably damaging	Het
Eml6	T	A	11: 29,784,231	I1170L	probably benign	Het
Epha3	C	T	16: 63,583,500	R746Q	probably damaging	Het
Exosc5	G	A	7: 25,664,369	C102Y	probably damaging	Het
Fam105a	A	C	15: 27,658,288	D165E	probably damaging	Het
Fam91a1	A	T	15: 58,430,678	Y289F	probably benign	Het
Fbxo38	A	C	18: 62,515,473	F665V	probably benign	Het
Fcrl5	T	C	3: 87,446,338	V330A	probably benign	Het
Fer	T	A	17: 63,924,095	D280E	probably benign	Het
Gm11639	T	C	11: 104,947,411	V3625A	unknown	Het
Gpr158	A	G	2: 21,368,302	H16R	probably benign	Het
Gzmg	C	T	14: 56,159,522	M1I	probably null	Het
Hectd4	C	T	5: 121,273,629	A456V	possibly damaging	Het
Hk2	T	A	6: 82,734,849	Q613L	probably benign	Het
Itsn1	T	C	16: 91,868,050	F1121L	unknown	Het
Lztr1	G	T	16: 17,523,031	C557F	possibly damaging	Het
Mdn1	A	G	4: 32,694,634	Y1119C	probably damaging	Het
Nfkb1	A	T	3: 135,613,990	L248Q	probably damaging	Het
Olfr403	T	A	11: 74,196,178	L225*	probably null	Het
Olfr404-ps1	T	C	11: 74,239,977	F138L	probably benign	Het
Olfr596	T	C	7: 103,309,847	V42A	probably benign	Het
Pate1	T	G	9: 35,685,112	D119A	probably damaging	Het
Pcdhgc4	T	C	18: 37,816,371	V280A	possibly damaging	Het
Pik3ap1	T	C	19: 41,287,490	D717G	probably damaging	Het
Prdm13	A	T	4: 21,679,473	L339Q	unknown	Het
Rasgrf1	T	A	9: 89,980,749	N519K	probably benign	Het
Rergl	A	G	6: 139,496,535	V39A	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sema4b	T	A	7: 80,198,654	M1K	probably null	Het
Slc20a1	T	G	2: 129,210,742	L648R	probably damaging	Het
Speg	A	G	1: 75,422,490	T2194A	probably benign	Het
Spns1	T	C	7: 126,373,789	D215G	probably damaging	Het
Tle4	A	T	19: 14,451,707	V717E	probably damaging	Het
Trim50	T	A	5: 135,353,297	M1K	probably null	Het
Trpa1	A	G	1: 14,893,207	V597A	possibly damaging	Het
Usp13	C	T	3: 32,917,608	Q746*	probably null	Het
Vmn1r35	A	T	6: 66,678,922	W255R	probably benign	Het
Vps35	A	T	8: 85,263,560		probably null	Het
Vps54	T	C	11: 21,315,028		probably null	Het
Zfp318	T	A	17: 46,386,848	L210Q	probably damaging	Het
Zfp319	C	A	8: 95,328,782	K264N	probably damaging	Het
Zfp62	C	T	11: 49,216,753	S557L	probably damaging	Het
Zgrf1	T	C	3: 127,563,590	S822P	probably damaging	Het
Zxdc	A	G	6: 90,369,663	D2G	possibly damaging	Het
Zzef1	T	C	11: 72,851,901	I769T	possibly damaging	Het

Other mutations in Olfr130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Olfr130	APN	17	38068095	missense	probably benign
IGL02158:Olfr130	APN	17	38067267	missense	probably damaging	0.97
IGL03172:Olfr130	APN	17	38067384	missense	probably damaging	0.99
R0389:Olfr130	UTSW	17	38067671	missense	possibly damaging	0.58
R0448:Olfr130	UTSW	17	38067672	missense	probably benign	0.00
R0616:Olfr130	UTSW	17	38067240	missense	probably damaging	1.00
R0961:Olfr130	UTSW	17	38067923	missense	probably damaging	1.00
R1789:Olfr130	UTSW	17	38067948	missense	probably damaging	1.00
R2108:Olfr130	UTSW	17	38067855	missense	possibly damaging	0.82
R4600:Olfr130	UTSW	17	38067962	missense	probably damaging	0.99
R4977:Olfr130	UTSW	17	38067747	missense	possibly damaging	0.67
R5120:Olfr130	UTSW	17	38067266	missense	probably damaging	0.97
R5930:Olfr130	UTSW	17	38067750	missense	probably benign	0.11
R6273:Olfr130	UTSW	17	38067795	missense	probably damaging	1.00
R6636:Olfr130	UTSW	17	38067224	missense	probably damaging	0.98
R6637:Olfr130	UTSW	17	38067224	missense	probably damaging	0.98
R7030:Olfr130	UTSW	17	38068057	missense	probably benign	0.13
R7045:Olfr130	UTSW	17	38067971	missense	probably benign	0.01
R7359:Olfr130	UTSW	17	38067615	nonsense	probably null
R7762:Olfr130	UTSW	17	38067675	missense	probably damaging	1.00
R8050:Olfr130	UTSW	17	38067479	missense	probably damaging	1.00
X0019:Olfr130	UTSW	17	38067722	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGTGCTGGTGCTAATCTCC -3'
(R):5'- GGTGATGGTACCCTGAATCAGAG -3'

Sequencing Primer
(F):5'- TCCTGACACTGGTAGGCAAC -3'
(R):5'- TGAATCAGAGTGTTGCCCAC -3'

Posted On

2019-06-26