Mutagenetix > Incidental Mutations

Incidental Mutation 'R4600:Olfr130'

345577

Institutional Source

Beutler Lab

Gene Symbol

Olfr130

Ensembl Gene

ENSMUSG00000094878

Gene Name

olfactory receptor 130

Synonyms

GA_x6K02T2PSCP-2515350-2516303, MOR256-19

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R4600 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38063921-38072790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38067962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 264 (S264P)

Ref Sequence

ENSEMBL: ENSMUSP00000149601 (fasta)

Gene Model

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

AlphaFold

Q8VFC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000087129
AA Change: S264P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084369
Gene: ENSMUSG00000094878
AA Change: S264P

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: S264P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217390
AA Change: S264P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
2700049A03Rik	T	C	12: 71,148,263	F145L	possibly damaging	Het
Aars2	T	A	17: 45,516,921	D555E	probably damaging	Het
Ago1	C	A	4: 126,460,392	M208I	probably benign	Het
Ak7	G	A	12: 105,713,575	V123M	probably benign	Het
Amfr	A	G	8: 93,974,221	L537P	probably damaging	Het
Apob	A	G	12: 8,008,568	D2317G	probably damaging	Het
Asb6	T	A	2: 30,824,471	D209V	probably damaging	Het
AY358078	T	A	14: 51,826,075	C393S	possibly damaging	Het
Baz2a	T	A	10: 128,121,183	C932S	probably damaging	Het
BC067074	A	G	13: 113,319,249	R610G	possibly damaging	Het
Btnl10	A	G	11: 58,923,600	I369V	probably benign	Het
Ccdc66	T	C	14: 27,500,420	N122S	probably damaging	Het
Clic4	A	T	4: 135,238,989		probably null	Het
Col6a3	A	G	1: 90,781,904	S1857P	unknown	Het
Cracr2a	A	C	6: 127,603,888	D9A	probably benign	Het
Dcst1	T	C	3: 89,356,336	E384G	probably benign	Het
Ddx4	T	C	13: 112,612,060	K435E	probably damaging	Het
Deaf1	T	A	7: 141,310,971	T433S	possibly damaging	Het
Dnah3	T	A	7: 120,089,946	M82L	probably benign	Het
Dnhd1	G	T	7: 105,703,644	R2668L	probably damaging	Het
Efcab6	C	T	15: 83,946,925	G596D	probably benign	Het
Ercc3	G	A	18: 32,245,571	A202T	probably benign	Het
Fam181b	C	A	7: 93,080,784	A255E	possibly damaging	Het
Fam83e	T	A	7: 45,723,500	D178E	probably benign	Het
Frem2	A	G	3: 53,547,807	L2116S	possibly damaging	Het
Gm16494	T	A	17: 47,016,797	K54*	probably null	Het
Golgb1	A	G	16: 36,918,625	D2442G	probably damaging	Het
Greb1l	G	A	18: 10,553,705	A1569T	probably damaging	Het
Grik5	C	G	7: 25,068,064	E64Q	probably damaging	Het
Gstm5	A	G	3: 107,897,986	Y130C	probably damaging	Het
Gucy2e	C	G	11: 69,236,168	A160P	possibly damaging	Het
Hydin	A	T	8: 110,566,950	T3510S	probably benign	Het
Itgb2	A	G	10: 77,546,115	I84V	probably benign	Het
Itsn1	A	G	16: 91,899,587	Q26R	probably damaging	Het
Kat6a	A	G	8: 22,939,311	S1561G	probably benign	Het
Khnyn	G	A	14: 55,886,981	V231I	probably benign	Het
Kif21b	A	G	1: 136,147,864	D243G	probably benign	Het
Klk4	T	A	7: 43,885,338	N240K	probably damaging	Het
Knl1	T	C	2: 119,070,544	S909P	possibly damaging	Het
Lamb1	A	C	12: 31,323,529	D1419A	probably benign	Het
Lin9	T	A	1: 180,681,194	V421D	probably damaging	Het
Lipt2	T	C	7: 100,160,312	L202P	probably benign	Het
Mbd5	T	G	2: 49,257,197	M473R	probably benign	Het
Mcc	A	T	18: 44,519,520	I279N	probably damaging	Het
Mcpt9	C	T	14: 56,028,592	V60M	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mylk2	G	A	2: 152,917,556	V389M	probably damaging	Het
Ndufs7	T	A	10: 80,256,667	Y203*	probably null	Het
Nup160	T	A	2: 90,685,197		probably null	Het
Nup88	G	A	11: 70,969,696	R62*	probably null	Het
Olfr145	T	A	9: 37,898,326	S307R	probably benign	Het
Olfr609	T	A	7: 103,492,581	Q99L	probably damaging	Het
Olfr777	G	A	10: 129,268,405	A306V	probably benign	Het
Olfr952	A	G	9: 39,426,435	M212T	probably benign	Het
Os9	T	C	10: 127,098,354	N471S	probably benign	Het
Otof	C	T	5: 30,371,900	V1757M	probably damaging	Het
Pald1	T	C	10: 61,348,616	T241A	probably benign	Het
Palm2	A	T	4: 57,709,954	T300S	probably benign	Het
Pappa2	G	A	1: 158,814,445	S1347L	probably damaging	Het
Pccb	T	C	9: 101,034,779	T27A	probably benign	Het
Pde4dip	A	T	3: 97,695,944	V2243D	probably damaging	Het
Pkd2l2	C	A	18: 34,438,201	Q590K	probably benign	Het
Pmepa1	G	A	2: 173,228,327	P145L	possibly damaging	Het
Ppp3cb	T	C	14: 20,520,646	N339S	possibly damaging	Het
Rnf133	T	C	6: 23,649,042	E296G	possibly damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,949,153	D66E	probably benign	Het
Slc35e2	T	C	4: 155,617,649	F290S	probably benign	Het
Slc46a2	C	T	4: 59,911,886	C442Y	probably damaging	Het
Slc7a1	A	G	5: 148,342,059	L301P	probably damaging	Het
Spg21	A	G	9: 65,475,975	T148A	probably benign	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Sult1c1	C	A	17: 53,973,955	W40L	probably benign	Het
Sytl2	T	C	7: 90,375,769	S322P	probably benign	Het
Telo2	C	A	17: 25,105,148	R531L	possibly damaging	Het
Thbs3	T	C	3: 89,224,590	V719A	probably damaging	Het
Tlr9	T	A	9: 106,224,533	L341Q	probably damaging	Het
Tmprss5	A	G	9: 49,113,248	N230D	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpo	C	T	12: 30,098,229	V558M	probably benign	Het
Trex1	T	G	9: 109,058,284	Q213P	possibly damaging	Het
Ttc30a1	T	C	2: 75,980,633	T369A	probably benign	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ugt1a6a	A	G	1: 88,138,864	K131E	probably benign	Het
Vipr1	T	A	9: 121,665,136		probably null	Het
Vmn1r22	T	C	6: 57,900,875	D39G	probably damaging	Het
Vmn2r58	A	T	7: 41,872,622	C17S	probably benign	Het
Vps41	T	C	13: 18,745,283	Y63H	probably damaging	Het
Xdh	G	T	17: 73,910,200	T691N	probably benign	Het
Zfp518b	T	C	5: 38,673,627	N345S	probably damaging	Het
Zfp536	T	A	7: 37,568,493	K499N	probably damaging	Het
Zfp963	A	T	8: 69,742,860		probably null	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
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
R7175:Olfr130	UTSW	17	38067479	missense	probably damaging	0.96
R7359:Olfr130	UTSW	17	38067615	nonsense	probably null
R7762:Olfr130	UTSW	17	38067675	missense	probably damaging	1.00
R7980:Olfr130	UTSW	17	38067521	missense	possibly damaging	0.64
R8050:Olfr130	UTSW	17	38067479	missense	probably damaging	1.00
R9035:Olfr130	UTSW	17	38067288	missense	probably benign	0.00
X0019:Olfr130	UTSW	17	38067722	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAGCTATTCATGGCTTCCTTG -3'
(R):5'- CTTCAGGTTTGTGAGGACAGAG -3'

Sequencing Primer
(F):5'- CATGGCTTCCTTGGTGCTGC -3'
(R):5'- TGTGAGGACAGAGAGAACTATATCTC -3'

Posted On

2015-09-25