Mutagenetix > Incidental Mutations

Incidental Mutation 'R6813:Olfr980'

533957

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: 0.076) question?

Stock #

R6813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40004348-40009582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40006457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 164 (H164L)

Ref Sequence

ENSEMBL: ENSMUSP00000150496 (fasta)

Gene Model

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

AlphaFold

Q8VH08

Predicted Effect

probably benign
Transcript: ENSMUST00000073932
AA Change: H164L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091386
Gene: ENSMUSG00000060254
AA Change: H164L

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: H164L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.2575

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 96.9%

Validation Efficiency

100% (61/61)

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
2410089E03Rik	T	A	15: 8,229,282	N2337K	probably benign	Het
Adgrb2	C	A	4: 130,009,491	Q603K	probably damaging	Het
Adgrf3	A	G	5: 30,197,521	F503S	probably damaging	Het
Arfgap3	A	T	15: 83,330,593	M164K	probably benign	Het
Asb13	G	T	13: 3,645,029	V166F	probably damaging	Het
Atm	T	G	9: 53,497,235	R1103S	probably benign	Het
Atxn7l1	T	C	12: 33,367,124	I626T	probably damaging	Het
Brsk2	A	G	7: 142,002,477	I649V	probably benign	Het
Ccdc25	T	A	14: 65,856,433	M85K	probably benign	Het
Cdc42bpb	A	G	12: 111,327,615	V231A	probably damaging	Het
Clstn3	T	A	6: 124,436,935	M767L	probably benign	Het
Col6a6	C	T	9: 105,783,941	R323K	probably benign	Het
Creld1	A	G	6: 113,489,569	Y199C	probably damaging	Het
Csf1r	T	A	18: 61,112,734	D254E	probably benign	Het
Dab2ip	C	T	2: 35,730,473	Q1118*	probably null	Het
Dcun1d4	C	A	5: 73,520,957	S98R	possibly damaging	Het
Disp3	G	A	4: 148,259,930	P505L	probably benign	Het
Dlec1	A	T	9: 119,112,102	Q240L	probably benign	Het
Edil3	T	A	13: 89,289,456	I392N	probably damaging	Het
Epha10	T	A	4: 124,902,693	S398R		Het
Ephb1	A	G	9: 102,010,048	I464T	possibly damaging	Het
Eps15	T	A	4: 109,280,402		probably null	Het
Fam111a	T	A	19: 12,587,342	C152S	probably damaging	Het
Flt3	T	C	5: 147,354,843	E599G	probably damaging	Het
Frmd3	T	C	4: 74,159,245	S259P	probably benign	Het
Gm15922	T	C	7: 3,736,003	H535R	probably benign	Het
Gm30302	T	A	13: 49,787,396	R279S	probably benign	Het
Hsfy2	A	G	1: 56,636,302	Y359H	possibly damaging	Het
Ifih1	C	T	2: 62,645,693	V80M	possibly damaging	Het
Il12rb2	A	C	6: 67,292,374	D818E	probably damaging	Het
Il4i1	A	G	7: 44,839,812	T334A	probably benign	Het
Irs2	G	A	8: 11,004,659	Q1258*	probably null	Het
Lsm1	T	G	8: 25,793,693	H44Q	probably benign	Het
Mgam	A	T	6: 40,750,165	M1257L	probably damaging	Het
Myc	T	C	15: 61,988,152	S225P	probably damaging	Het
Myh1	T	C	11: 67,220,460	V1575A	probably benign	Het
Myo9b	A	G	8: 71,323,305	D380G	probably damaging	Het
Ncoa7	T	A	10: 30,696,192	D157V	probably damaging	Het
Olfr314	G	T	11: 58,786,646	Q137H	probably benign	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr877	A	C	9: 37,855,514	E232A	possibly damaging	Het
Olfr883	T	C	9: 38,025,833	V9A	probably damaging	Het
Pccb	A	G	9: 101,023,215	V117A	probably damaging	Het
Pdp2	C	T	8: 104,594,499	H327Y	probably damaging	Het
Pdzph1	G	T	17: 58,974,436	Q284K	probably benign	Het
Phka2	G	A	X: 160,533,048	V230I	probably damaging	Het
Phldb1	A	T	9: 44,699,568	S751R	probably damaging	Het
Ppp1r1b	T	A	11: 98,349,176		probably null	Het
Ppp1r3a	A	G	6: 14,719,571	V448A	probably benign	Het
Pvrig	A	T	5: 138,342,050	T28S	probably benign	Het
Rasgrf1	G	A	9: 90,010,484		probably null	Het
Scnn1g	T	C	7: 121,740,353	L125S	probably damaging	Het
Slc30a7	A	T	3: 115,981,811	D221E	probably benign	Het
Tmem30c	A	G	16: 57,281,259		probably null	Het
Tmem33	T	C	5: 67,264,459		probably null	Het
Ttc29	A	T	8: 78,333,620	T390S	probably benign	Het
Vamp5	G	A	6: 72,380,441		probably benign	Het
Vmn2r81	T	A	10: 79,268,605	F354Y	probably benign	Het
Vmn2r96	A	G	17: 18,581,854	H119R	probably benign	Het
Wdr3	G	A	3: 100,138,725	R931*	probably null	Het
Wdr78	T	C	4: 103,048,326	K753E	probably benign	Het
Wtap	A	T	17: 12,967,510	N383K	probably damaging	Het
Zfp808	T	C	13: 62,173,035	Y693H	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
BB010:Olfr980	UTSW	9	40007135	start gained	probably benign
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
R6819:Olfr980	UTSW	9	40006548	missense	probably benign	0.00
R6970:Olfr980	UTSW	9	40006713	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
R7933:Olfr980	UTSW	9	40007135	start gained	probably benign
R8243:Olfr980	UTSW	9	40006188	missense	probably benign	0.19
Z1088:Olfr980	UTSW	9	40006596	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAAGTGCGAATCCTCAGGATG -3'
(R):5'- TGGCACAGCTCTATTGCTTC -3'

Sequencing Primer
(F):5'- TCCTCAGGATGGAGCAGAC -3'
(R):5'- CACTTCCTGGGTAGCACCGAG -3'

Posted On

2018-09-12