Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Olfr372'

50112

Institutional Source

Beutler Lab

Gene Symbol

Olfr372

Ensembl Gene

ENSMUSG00000069998

Gene Name

olfactory receptor 372

Synonyms

GA_x6K02T2NUPS-191522-192466, MOR282-1

MMRRC Submission

038415-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0130 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

72041218-72060630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72058400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 240 (T240M)

Ref Sequence

ENSEMBL: ENSMUSP00000149288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093434] [ENSMUST00000215324]

AlphaFold

Q7TRY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000093434
AA Change: T240M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132724
Gene: ENSMUSG00000069998
AA Change: T240M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	221	1.1e-7	PFAM
Pfam:7tm_1	41	290	6.4e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215324
AA Change: T240M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,686,666	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,809,176		probably benign	Het
Anxa9	A	G	3: 95,302,422	S129P	probably benign	Het
Apol7c	A	G	15: 77,526,362	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,835,719	I88S	probably damaging	Het
Arfip2	A	G	7: 105,638,998		probably benign	Het
Atp5j2	A	T	5: 145,188,182		probably benign	Het
Atp7b	C	T	8: 22,028,172	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715		probably null	Het
Cd22	A	G	7: 30,869,964	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,069,962	T613A	probably benign	Het
Cdcp2	C	T	4: 107,106,707		probably benign	Het
Cenpc1	A	T	5: 86,046,546	D120E	probably benign	Het
Chd3	T	A	11: 69,359,830	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cped1	T	A	6: 22,121,039	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,921,913	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771		probably benign	Het
Dcdc2a	A	T	13: 25,187,672		probably benign	Het
Dync1h1	C	A	12: 110,618,674	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,881,732		probably benign	Het
Epb41l5	A	C	1: 119,549,902	V705G	possibly damaging	Het
Fat2	T	A	11: 55,252,118	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995	T443A	probably damaging	Het
Gde1	A	T	7: 118,695,060	F63L	probably benign	Het
Gjc3	A	G	5: 137,957,940	S28P	probably benign	Het
Gm10250	G	A	15: 5,120,991		probably null	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Klhl23	T	C	2: 69,833,966	V553A	probably damaging	Het
Lman2l	G	T	1: 36,424,864	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508	D378G	probably damaging	Het
Map3k11	T	C	19: 5,690,815	L190P	probably damaging	Het
Mki67	T	A	7: 135,696,459	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,309,008	I272F	probably damaging	Het
Myom1	A	T	17: 71,045,755	D358V	probably damaging	Het
Nebl	T	A	2: 17,393,023	Q487H	possibly damaging	Het
Nebl	T	C	2: 17,390,926		probably benign	Het
Nlrp2	T	A	7: 5,322,418	N14Y	possibly damaging	Het
Olfr1090	T	C	2: 86,753,887	M284V	probably benign	Het
Olfr304	T	C	7: 86,386,306	Y118C	probably damaging	Het
Olfr339	T	A	2: 36,422,287	D296E	probably benign	Het
Olfr992	T	A	2: 85,399,961	S191C	probably damaging	Het
Paxip1	C	T	5: 27,744,185		probably benign	Het
Pclo	A	G	5: 14,679,797		probably benign	Het
Pld2	T	G	11: 70,554,348	N591K	probably benign	Het
Plekha7	A	G	7: 116,170,704	M276T	probably damaging	Het
Prss39	T	A	1: 34,502,200		probably benign	Het
Prtg	A	G	9: 72,809,716	Y113C	probably damaging	Het
Rab38	T	A	7: 88,450,541	I88N	probably damaging	Het
Rbfox2	A	G	15: 77,091,857		probably benign	Het
Samd5	A	G	10: 9,674,939	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,156,407	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,471,448	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,145,314	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961	I104F	probably damaging	Het
Smcp	T	A	3: 92,584,520	T7S	unknown	Het
Sp4	A	G	12: 118,300,816		probably benign	Het
Tectb	G	T	19: 55,181,961	K81N	probably damaging	Het
Thbs4	G	T	13: 92,754,410	H850N	probably benign	Het
Tiam1	T	C	16: 89,897,754	M272V	probably benign	Het
Trav13-3	T	A	14: 53,729,776		noncoding transcript	Het
Ubap2l	A	T	3: 90,021,373	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,419,185		probably benign	Het

Other mutations in Olfr372

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03251:Olfr372	APN	8	72058076	missense	probably damaging	1.00
R0126:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0128:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0131:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0131:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0132:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0152:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0230:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0244:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0256:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0257:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0294:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0316:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0318:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0391:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0479:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0604:Olfr372	UTSW	8	72058400	missense	probably damaging	1.00
R0624:Olfr372	UTSW	8	72058162	missense	possibly damaging	0.94
R0631:Olfr372	UTSW	8	72058322	missense	probably damaging	0.99
R1785:Olfr372	UTSW	8	72058436	missense	probably damaging	1.00
R1786:Olfr372	UTSW	8	72058436	missense	probably damaging	1.00
R2040:Olfr372	UTSW	8	72057763	missense	possibly damaging	0.77
R4176:Olfr372	UTSW	8	72058184	missense	probably damaging	1.00
R4782:Olfr372	UTSW	8	72058094	missense	probably benign	0.00
R4799:Olfr372	UTSW	8	72058094	missense	probably benign	0.00
R6915:Olfr372	UTSW	8	72057730	missense	probably benign	0.19
R7512:Olfr372	UTSW	8	72058523	missense	probably damaging	1.00
R8255:Olfr372	UTSW	8	72057763	missense	possibly damaging	0.77
R9619:Olfr372	UTSW	8	72057761	missense	probably damaging	1.00
RF022:Olfr372	UTSW	8	72058624	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTCATGTGCAGACACATCAGCC -3'
(R):5'- GGATCGAAGGACATCATCGCTTCAC -3'

Sequencing Primer
(F):5'- ACATCAGCCTATGAGTTGGCG -3'
(R):5'- CAAGGACATTCGAACTTCTCTG -3'

Posted On

2013-06-12