Mutagenetix > Incidental Mutations

Incidental Mutation 'R6970:Olfr980'

542192

Institutional Source

Beutler Lab

Gene Symbol

Olfr980

Ensembl Gene

ENSMUSG00000060254

Gene Name

olfactory receptor 980

Synonyms

MOR223-2, GA_x6K02T2PVTD-33705428-33704496

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40004348-40009582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40006713 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 79 (M79L)

Ref Sequence

ENSEMBL: ENSMUSP00000150496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073932] [ENSMUST00000215523] [ENSMUST00000216463]

Predicted Effect

probably benign
Transcript: ENSMUST00000073932
AA Change: M79L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091386
Gene: ENSMUSG00000060254
AA Change: M79L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.4e-55	PFAM
Pfam:7tm_1	39	287	5.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215523

Predicted Effect

probably benign
Transcript: ENSMUST00000216463
AA Change: M79L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	probably damaging	Het

Other mutations in Olfr980

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02256:Olfr980	APN	9	40006053	missense	probably benign
IGL02378:Olfr980	APN	9	40006473	missense	probably damaging	1.00
IGL03384:Olfr980	APN	9	40006470	missense	probably benign
IGL03402:Olfr980	APN	9	40006506	missense	probably benign	0.31
PIT4651001:Olfr980	UTSW	9	40006230	missense	probably damaging	0.97
R0013:Olfr980	UTSW	9	40006355	missense	probably damaging	1.00
R1146:Olfr980	UTSW	9	40006094	missense	possibly damaging	0.95
R1146:Olfr980	UTSW	9	40006094	missense	possibly damaging	0.95
R4541:Olfr980	UTSW	9	40006293	missense	possibly damaging	0.95
R4562:Olfr980	UTSW	9	40006281	missense	probably damaging	0.99
R4731:Olfr980	UTSW	9	40006268	missense	probably damaging	1.00
R4732:Olfr980	UTSW	9	40006268	missense	probably damaging	1.00
R4733:Olfr980	UTSW	9	40006268	missense	probably damaging	1.00
R4825:Olfr980	UTSW	9	40006742	missense	possibly damaging	0.72
R5619:Olfr980	UTSW	9	40006743	missense	probably benign	0.07
R5770:Olfr980	UTSW	9	40006338	missense	probably benign	0.01
R5791:Olfr980	UTSW	9	40006734	missense	probably damaging	1.00
R6813:Olfr980	UTSW	9	40006457	missense	probably benign
R6819:Olfr980	UTSW	9	40006548	missense	probably benign	0.00
R7490:Olfr980	UTSW	9	40006424	missense	probably damaging	1.00
R7511:Olfr980	UTSW	9	40006933	missense	possibly damaging	0.63
Z1088:Olfr980	UTSW	9	40006596	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGTAGTCTGGACAGCAGAGTG -3'
(R):5'- ACTCCATGCTCTTTGGGATC -3'

Sequencing Primer
(F):5'- GGAACCAGTGATCCATGTTCCTG -3'
(R):5'- CATGCTCTTTGGGATCTTCCTTGTG -3'

Posted On

2018-11-28