Mutagenetix > Incidental Mutation

Incidental Mutation 'R0382:Or4c31'

30995

Institutional Source

Beutler Lab

Gene Symbol

Or4c31

Ensembl Gene

ENSMUSG00000049372

Gene Name

olfactory receptor family 4 subfamily C member 31

Synonyms

MOR230-6, GA_x6K02T2Q125-49948903-49949814, Olfr1183

MMRRC Submission

038588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R0382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88291686-88292597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88292069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 147 (R147S)

Ref Sequence

ENSEMBL: ENSMUSP00000154094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102618] [ENSMUST00000213115] [ENSMUST00000219871]

AlphaFold

A0A2I3BQA3

Predicted Effect

probably benign
Transcript: ENSMUST00000102618
AA Change: R128S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099678
Gene: ENSMUSG00000049372
AA Change: R128S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.1e-47	PFAM
Pfam:7TM_GPCR_Srsx	32	299	1.8e-5	PFAM
Pfam:7tm_1	38	284	1.5e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213115
AA Change: R147S

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000219871
AA Change: R128S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,923,901 (GRCm39)	Q266L	probably benign	Het
Abca13	T	C	11: 9,586,650 (GRCm39)		probably benign	Het
Adap2	T	C	11: 80,069,211 (GRCm39)		probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Brinp1	T	C	4: 68,680,545 (GRCm39)	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,706,417 (GRCm39)	P967T	probably damaging	Het
Ces1b	T	C	8: 93,802,680 (GRCm39)		probably benign	Het
Ckm	T	C	7: 19,155,309 (GRCm39)	*382Q	probably null	Het
Clec14a	A	G	12: 58,315,403 (GRCm39)	V73A	probably damaging	Het
Cmya5	A	T	13: 93,229,256 (GRCm39)	V1944E	probably benign	Het
Col6a6	T	A	9: 105,632,754 (GRCm39)	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,342 (GRCm39)	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672 (GRCm39)	N161S	probably damaging	Het
Dnah17	T	C	11: 118,019,822 (GRCm39)	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,758,966 (GRCm39)	V388A	possibly damaging	Het
Fat3	A	G	9: 15,871,052 (GRCm39)	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,458,021 (GRCm39)	*401R	probably null	Het
Fbxo5	G	T	10: 5,751,176 (GRCm39)	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,364,602 (GRCm39)		probably benign	Het
Fstl3	T	C	10: 79,613,141 (GRCm39)	S3P	probably benign	Het
Gpatch1	T	C	7: 35,001,080 (GRCm39)	D309G	probably damaging	Het
Gstcd	A	T	3: 132,692,169 (GRCm39)	L582H	probably damaging	Het
Klk6	A	G	7: 43,478,669 (GRCm39)	D192G	probably benign	Het
Lrp6	A	G	6: 134,444,631 (GRCm39)	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,536,971 (GRCm39)		probably null	Het
Mov10l1	A	G	15: 88,869,796 (GRCm39)	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,797,739 (GRCm39)	R62H	probably damaging	Het
Obscn	T	C	11: 58,931,132 (GRCm39)	T5835A	probably damaging	Het
Or5j3	A	G	2: 86,128,937 (GRCm39)	Y259C	probably damaging	Het
Or6c66b	T	C	10: 129,376,883 (GRCm39)	I159T	probably benign	Het
Or7a38	T	A	10: 78,752,960 (GRCm39)	Y95*	probably null	Het
P2rx2	T	A	5: 110,489,045 (GRCm39)	E289V	probably benign	Het
Patl1	T	A	19: 11,902,596 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,080,591 (GRCm39)		probably benign	Het
Qrfpr	C	T	3: 36,235,118 (GRCm39)	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,487,363 (GRCm39)	D540E	probably damaging	Het
Rbm45	T	A	2: 76,200,555 (GRCm39)	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,615,927 (GRCm39)		probably benign	Het
Sgsm3	G	A	15: 80,892,515 (GRCm39)	W280*	probably null	Het
Slc9a9	A	T	9: 94,567,270 (GRCm39)	H113L	probably benign	Het
Slc9b2	G	T	3: 135,024,183 (GRCm39)	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 82,920,360 (GRCm39)		noncoding transcript	Het
Slfn8	T	A	11: 82,895,382 (GRCm39)	I475F	probably damaging	Het
Stox2	A	G	8: 47,656,319 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,490,838 (GRCm39)	N472K	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tmem39a	A	G	16: 38,411,760 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,478,150 (GRCm39)	L664P	probably damaging	Het
Uap1	T	A	1: 169,989,051 (GRCm39)	M124L	probably benign	Het
Usp48	A	G	4: 137,348,529 (GRCm39)	N536S	probably benign	Het
Usp50	T	A	2: 126,619,848 (GRCm39)	I155F	probably damaging	Het
Utp4	T	C	8: 107,649,567 (GRCm39)	I672T	probably benign	Het
Vmn1r94	A	T	7: 19,901,578 (GRCm39)	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,486,098 (GRCm39)	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vps41	C	A	13: 19,011,897 (GRCm39)	H335N	probably benign	Het

Other mutations in Or4c31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Or4c31	APN	2	88,291,696 (GRCm39)	missense	probably benign
IGL01150:Or4c31	APN	2	88,292,419 (GRCm39)	missense	possibly damaging	0.93
IGL02894:Or4c31	APN	2	88,292,070 (GRCm39)	missense	probably damaging	1.00
R0401:Or4c31	UTSW	2	88,292,269 (GRCm39)	missense	probably damaging	1.00
R0664:Or4c31	UTSW	2	88,292,515 (GRCm39)	missense	probably damaging	1.00
R1990:Or4c31	UTSW	2	88,291,686 (GRCm39)	start codon destroyed	probably null
R3122:Or4c31	UTSW	2	88,291,853 (GRCm39)	missense	probably damaging	0.99
R4596:Or4c31	UTSW	2	88,292,538 (GRCm39)	missense	probably benign	0.28
R7361:Or4c31	UTSW	2	88,291,836 (GRCm39)	missense	probably benign	0.28
R7469:Or4c31	UTSW	2	88,291,691 (GRCm39)	missense	probably benign
R7858:Or4c31	UTSW	2	88,292,056 (GRCm39)	missense	probably damaging	1.00
R8023:Or4c31	UTSW	2	88,292,022 (GRCm39)	missense	probably benign	0.04
R8147:Or4c31	UTSW	2	88,292,427 (GRCm39)	missense	possibly damaging	0.93
R9026:Or4c31	UTSW	2	88,292,196 (GRCm39)	missense	probably damaging	1.00
R9103:Or4c31	UTSW	2	88,291,942 (GRCm39)	missense	probably benign	0.02
Z1176:Or4c31	UTSW	2	88,292,458 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGATCATAGACGCCCTCTCGCAG -3'
(R):5'- GGCTCCAGATTCTTTTGGGTACACC -3'

Sequencing Primer
(F):5'- GCCCTCTCGCAGAAAAAAATTATTAC -3'
(R):5'- GTATCCATGCAGGCAAGTTTC -3'

Posted On

2013-04-24