Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:Or4c1'

259156

Institutional Source

Beutler Lab

Gene Symbol

Or4c1

Ensembl Gene

ENSMUSG00000075093

Gene Name

olfactory receptor family 4 subfamily C member 1

Synonyms

MOR235-2, GA_x6K02T2Q125-50748233-50747292, Olfr1231

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R3177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89132993-89133934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89133562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 125 (V125M)

Ref Sequence

ENSEMBL: ENSMUSP00000150310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099786] [ENSMUST00000216144]

AlphaFold

Q7TQZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099786
AA Change: V125M

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: V125M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	306	7e-43	PFAM
Pfam:7tm_1	42	288	1.3e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216144
AA Change: V125M

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,802,663 (GRCm39)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Btnl9	T	C	11: 49,060,503 (GRCm39)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyb561	T	C	11: 105,826,613 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Duox1	T	C	2: 122,170,597 (GRCm39)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,143,928 (GRCm39)		noncoding transcript	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hey1	T	C	3: 8,729,951 (GRCm39)	S169G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kif2a	A	G	13: 107,113,264 (GRCm39)	I455T	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,717,943 (GRCm39)	L294F	probably benign	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Or4c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Or4c1	APN	2	89,133,816 (GRCm39)	missense	possibly damaging	0.90
IGL02189:Or4c1	APN	2	89,133,641 (GRCm39)	missense	probably damaging	1.00
IGL02354:Or4c1	APN	2	89,133,526 (GRCm39)	missense	probably benign	0.03
IGL02361:Or4c1	APN	2	89,133,526 (GRCm39)	missense	probably benign	0.03
PIT4305001:Or4c1	UTSW	2	89,133,727 (GRCm39)	missense	probably benign	0.05
R0973:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R0973:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R0974:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R2006:Or4c1	UTSW	2	89,133,160 (GRCm39)	missense	possibly damaging	0.60
R3150:Or4c1	UTSW	2	89,133,562 (GRCm39)	missense	possibly damaging	0.82
R3277:Or4c1	UTSW	2	89,133,562 (GRCm39)	missense	possibly damaging	0.82
R3409:Or4c1	UTSW	2	89,133,717 (GRCm39)	missense	probably benign
R4208:Or4c1	UTSW	2	89,133,270 (GRCm39)	missense	probably damaging	1.00
R4412:Or4c1	UTSW	2	89,133,684 (GRCm39)	missense	probably benign	0.00
R4693:Or4c1	UTSW	2	89,133,621 (GRCm39)	missense	probably benign	0.07
R4697:Or4c1	UTSW	2	89,133,247 (GRCm39)	missense	probably damaging	1.00
R4697:Or4c1	UTSW	2	89,133,246 (GRCm39)	missense	possibly damaging	0.90
R5411:Or4c1	UTSW	2	89,133,920 (GRCm39)	missense	probably benign
R5992:Or4c1	UTSW	2	89,133,703 (GRCm39)	missense	possibly damaging	0.50
R6894:Or4c1	UTSW	2	89,133,837 (GRCm39)	missense	probably damaging	1.00
R8017:Or4c1	UTSW	2	89,133,595 (GRCm39)	missense	possibly damaging	0.94
R8019:Or4c1	UTSW	2	89,133,595 (GRCm39)	missense	possibly damaging	0.94
R9274:Or4c1	UTSW	2	89,133,513 (GRCm39)	missense	probably damaging	0.98
R9457:Or4c1	UTSW	2	89,133,075 (GRCm39)	missense	probably damaging	1.00
X0064:Or4c1	UTSW	2	89,133,246 (GRCm39)	missense	possibly damaging	0.72
X0067:Or4c1	UTSW	2	89,133,498 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGCAGGCAAGTTTCAACAATGG -3'
(R):5'- CCGTGTTGGCTAATCTGCTC -3'

Sequencing Primer
(F):5'- TTTCAACAATGGGAAGAGATCACAC -3'
(R):5'- GTTGGCTAATCTGCTCATTGTC -3'

Posted On

2015-01-23