Mutagenetix > Incidental Mutation

Incidental Mutation 'R0092:Olfr119'

20330

Institutional Source

Beutler Lab

Gene Symbol

Olfr119

Ensembl Gene

ENSMUSG00000059964

Gene Name

olfactory receptor 119

Synonyms

MOR263-7, GA_x6K02T2PSCP-2159633-2160598

MMRRC Submission

038379-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0092 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37696564-37702124 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37700805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 45 (L45R)

Ref Sequence

ENSEMBL: ENSMUSP00000150099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080483] [ENSMUST00000213732]

AlphaFold

Q7TRJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000080483
AA Change: L45R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092919
Gene: ENSMUSG00000059964
AA Change: L45R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	5.6e-59	PFAM
Pfam:7TM_GPCR_Srsx	41	311	1.7e-5	PFAM
Pfam:7tm_1	47	296	3.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213732
AA Change: L45R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

99% (112/113)

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
4932438A13Rik	A	G	3: 37,028,159	D3790G	probably benign	Het
Abcg2	T	A	6: 58,685,777	S535T	probably benign	Het
Acad11	A	T	9: 104,090,341		probably benign	Het
Acadm	A	T	3: 153,941,875		probably benign	Het
Acot12	T	A	13: 91,741,565	M12K	probably damaging	Het
Actr2	A	T	11: 20,094,308	N99K	probably benign	Het
Adam2	G	A	14: 66,053,887	A314V	probably damaging	Het
Aes	G	A	10: 81,561,220	G10D	possibly damaging	Het
Agl	C	T	3: 116,793,804	R34Q	probably damaging	Het
Agrn	C	T	4: 156,178,953	R338H	probably damaging	Het
AI661453	A	G	17: 47,467,515		probably benign	Het
Alpk3	A	G	7: 81,092,553	D706G	probably benign	Het
Apbb1	T	C	7: 105,559,154	E648G	probably damaging	Het
Astn2	C	A	4: 66,403,982	A127S	unknown	Het
Asxl2	T	C	12: 3,496,313	S366P	probably benign	Het
Bdh1	A	T	16: 31,447,562	K92*	probably null	Het
Cacna1g	C	T	11: 94,457,264	S666N	probably damaging	Het
Ces2b	A	G	8: 104,836,512	T361A	possibly damaging	Het
Col6a4	T	A	9: 106,013,314	E1927V	probably benign	Het
Ctnnb1	T	G	9: 120,952,863	I314S	possibly damaging	Het
Cyp2c66	T	C	19: 39,183,780		probably benign	Het
Dennd4c	T	A	4: 86,781,607	F232I	probably damaging	Het
Dennd5a	T	C	7: 109,899,806	N950S	possibly damaging	Het
Dhx30	T	C	9: 110,085,010	N14S	possibly damaging	Het
Dip2b	T	A	15: 100,202,265	V1004D	probably damaging	Het
Dnah1	A	C	14: 31,271,609	S2872A	probably benign	Het
Dnajc10	T	C	2: 80,325,682	V233A	probably damaging	Het
E230025N22Rik	A	G	18: 36,689,224	L162P	probably damaging	Het
Elmod3	T	C	6: 72,566,809	D333G	probably benign	Het
Epb41l3	T	A	17: 69,286,750	M846K	probably damaging	Het
Frem2	A	G	3: 53,589,796	Y1766H	probably benign	Het
Fxr2	T	C	11: 69,642,146		probably benign	Het
Gm14085	G	T	2: 122,517,597		probably benign	Het
Gm9833	G	A	3: 10,088,573	C134Y	possibly damaging	Het
Gmpr2	A	G	14: 55,677,945	R258G	probably benign	Het
Helb	T	C	10: 120,089,808	Y888C	probably damaging	Het
Hephl1	TTCCAGATGTCC	TTCC	9: 15,090,603		probably null	Het
Hipk2	T	C	6: 38,743,229	D482G	probably damaging	Het
Itgb4	G	T	11: 115,979,124	R44L	probably damaging	Het
Itih1	T	C	14: 30,940,863		probably benign	Het
Kit	T	A	5: 75,647,754	S719R	possibly damaging	Het
Krt13	G	A	11: 100,121,432	Q22*	probably null	Het
L3mbtl4	A	C	17: 68,425,703	R59S	probably benign	Het
Lpp	A	G	16: 24,761,602	S23G	probably benign	Het
Magi3	G	A	3: 104,050,964	Q602*	probably null	Het
Man2a1	A	G	17: 64,659,084		probably benign	Het
Muc5ac	A	G	7: 141,818,630	E2667G	possibly damaging	Het
Myo15b	C	G	11: 115,862,986	S842C	possibly damaging	Het
Naf1	T	A	8: 66,889,108	S462T	probably benign	Het
Necab3	T	C	2: 154,558,739	D34G	possibly damaging	Het
Nisch	C	A	14: 31,191,453		probably benign	Het
Nlrc5	T	C	8: 94,489,594		probably benign	Het
Nmt1	T	C	11: 103,046,493	F119L	probably damaging	Het
Nod1	T	G	6: 54,944,541	D264A	probably damaging	Het
Nol8	C	T	13: 49,662,447	A677V	possibly damaging	Het
Nt5e	T	A	9: 88,370,285	F567I	probably benign	Het
Obscn	A	T	11: 59,051,247	M4434K	possibly damaging	Het
Olfr50	A	G	2: 36,793,496	T87A	probably benign	Het
Olfr512	T	C	7: 108,713,824	V145A	probably benign	Het
Olfr632	T	C	7: 103,937,727	S116P	probably damaging	Het
Olfr796	A	G	10: 129,608,221	S87P	probably damaging	Het
Opa1	A	T	16: 29,625,594	D866V	probably damaging	Het
Otop1	T	A	5: 38,299,830	V311E	probably damaging	Het
Pcsk2	A	G	2: 143,801,024	D407G	probably damaging	Het
Pdcd1	A	G	1: 94,052,424	W23R	possibly damaging	Het
Pigp	A	G	16: 94,365,462	V129A	probably damaging	Het
Pik3r5	A	G	11: 68,492,803	R483G	probably benign	Het
Pink1	A	G	4: 138,319,998	V225A	probably benign	Het
Plcl1	C	G	1: 55,696,765	Q422E	probably damaging	Het
Plec	T	C	15: 76,183,743	E1222G	probably benign	Het
Polr1a	T	C	6: 71,967,455		probably benign	Het
Prokr2	C	T	2: 132,373,597	V154M	probably damaging	Het
Rasgrp4	A	G	7: 29,145,132	R280G	possibly damaging	Het
Rmnd5b	T	C	11: 51,629,592	E8G	possibly damaging	Het
Sbf2	T	A	7: 110,320,806		probably benign	Het
Sec23b	A	G	2: 144,566,910	M172V	probably benign	Het
Setx	T	C	2: 29,146,293	V930A	probably benign	Het
Sft2d2	G	A	1: 165,179,260	A159V	possibly damaging	Het
Sh3gl1	G	T	17: 56,018,088	R250S	probably benign	Het
Skor1	C	A	9: 63,145,995	D231Y	probably damaging	Het
Slc24a1	T	G	9: 64,948,752	E291A	unknown	Het
Smc1b	A	T	15: 85,067,724		probably benign	Het
Tbccd1	A	T	16: 22,826,094	N177K	possibly damaging	Het
Tdp1	T	A	12: 99,954,989	Y595N	probably damaging	Het
Tmem108	T	C	9: 103,489,305	K496E	possibly damaging	Het
Tmprss7	T	C	16: 45,667,596	D490G	probably damaging	Het
Tnrc6b	A	T	15: 80,918,528	N1511Y	probably damaging	Het
Top2b	G	A	14: 16,409,263	R802Q	probably damaging	Het
Trip10	A	T	17: 57,250,798	K27N	possibly damaging	Het
Txlnb	A	G	10: 17,842,755	N445D	possibly damaging	Het
Txnrd1	T	A	10: 82,879,802	I159N	probably damaging	Het
Ulk1	C	A	5: 110,796,327	A164S	probably null	Het
Vmn2r83	T	C	10: 79,491,964	V802A	probably damaging	Het
Zbtb4	A	G	11: 69,779,351	I967V	probably benign	Het

Other mutations in Olfr119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02209:Olfr119	APN	17	37700992	missense	probably damaging	1.00
IGL03339:Olfr119	APN	17	37700791	missense	probably damaging	0.99
R0207:Olfr119	UTSW	17	37701058	nonsense	probably null
R0378:Olfr119	UTSW	17	37701041	missense	probably damaging	1.00
R0408:Olfr119	UTSW	17	37701299	missense	probably benign
R0483:Olfr119	UTSW	17	37701297	missense	probably benign	0.01
R1595:Olfr119	UTSW	17	37701113	missense	probably benign	0.03
R1901:Olfr119	UTSW	17	37701421	missense	probably damaging	1.00
R1902:Olfr119	UTSW	17	37701421	missense	probably damaging	1.00
R2845:Olfr119	UTSW	17	37700823	missense	probably damaging	1.00
R2846:Olfr119	UTSW	17	37700823	missense	probably damaging	1.00
R4356:Olfr119	UTSW	17	37700899	missense	probably damaging	0.97
R4381:Olfr119	UTSW	17	37700899	missense	probably damaging	0.97
R6744:Olfr119	UTSW	17	37701445	nonsense	probably null
R7674:Olfr119	UTSW	17	37700682	missense	probably benign	0.03
R7677:Olfr119	UTSW	17	37701066	missense	probably damaging	1.00
R7994:Olfr119	UTSW	17	37701435	missense	probably damaging	0.99
R8305:Olfr119	UTSW	17	37701498	missense	probably benign	0.10
R8512:Olfr119	UTSW	17	37701180	missense	probably damaging	1.00
R9300:Olfr119	UTSW	17	37700924	missense	probably damaging	1.00
R9760:Olfr119	UTSW	17	37701543	missense	probably damaging	1.00
Z1177:Olfr119	UTSW	17	37701053	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGAGACTTTCTGCATCAGGCACAC -3'
(R):5'- GGCACAACCCTCCCGAGAGATT -3'

Sequencing Primer
(F):5'- aagggtatgaaaggcaaaagaag -3'
(R):5'- ATTTCTCGGGCCTCACTTACAAG -3'

Posted On

2013-04-11