Mutagenetix > Incidental Mutation

Incidental Mutation 'R8017:Or4c1'

628798

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

067457-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8017 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89132993-89133934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89133595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 114 (I114F)

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: I114F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: I114F

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: I114F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	G	T	4: 124,744,469 (GRCm39)	A51E	unknown	Het
A2ml1	C	T	6: 128,558,410 (GRCm39)		probably null	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Bnc2	A	G	4: 84,329,662 (GRCm39)	L118P		Het
Ccdc18	T	A	5: 108,376,511 (GRCm39)	Y1317*	probably null	Het
Ccdc93	C	T	1: 121,375,993 (GRCm39)	T168M	probably damaging	Het
Cd109	G	T	9: 78,614,828 (GRCm39)	D1292Y	possibly damaging	Het
Cdh24	G	T	14: 54,876,089 (GRCm39)	N184K	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cspg4b	T	A	13: 113,456,157 (GRCm39)	S734R		Het
Efemp2	T	A	19: 5,527,708 (GRCm39)	C181*	probably null	Het
Eftud2	A	G	11: 102,734,174 (GRCm39)		probably null	Het
Elp2	G	A	18: 24,739,920 (GRCm39)	V49M	possibly damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Exph5	G	A	9: 53,284,752 (GRCm39)	C611Y	probably benign	Het
Gm9376	T	G	14: 118,504,951 (GRCm39)	Y128D	probably damaging	Het
Gsdmc2	T	A	15: 63,698,762 (GRCm39)	N278I	probably benign	Het
Hace1	C	T	10: 45,514,478 (GRCm39)	T199M	probably damaging	Het
Hivep1	T	C	13: 42,321,098 (GRCm39)	V44A		Het
Homez	A	C	14: 55,095,689 (GRCm39)	D6E	probably benign	Het
Ighv5-12	A	T	12: 113,665,792 (GRCm39)	M102K	probably damaging	Het
Jup	T	C	11: 100,265,023 (GRCm39)	T643A	probably benign	Het
Krt4	T	A	15: 101,828,722 (GRCm39)	I381F	probably damaging	Het
Krt6a	A	G	15: 101,602,304 (GRCm39)	V127A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mtfr2	A	T	10: 20,229,900 (GRCm39)	N153Y	probably damaging	Het
Npas3	G	A	12: 54,091,462 (GRCm39)	V339I	probably damaging	Het
Nsun2	C	T	13: 69,775,764 (GRCm39)	R438C	probably damaging	Het
Oga	A	T	19: 45,762,107 (GRCm39)	W249R	probably damaging	Het
Or4k47	A	C	2: 111,452,412 (GRCm39)	D2E	probably benign	Het
Or5w16	T	A	2: 87,577,392 (GRCm39)	M284K	probably damaging	Het
Pdzd2	T	C	15: 12,373,122 (GRCm39)	R2338G	probably damaging	Het
Pgm1	A	G	4: 99,843,875 (GRCm39)	M553V	probably benign	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Ppp2r5e	A	G	12: 75,511,703 (GRCm39)	I340T	probably damaging	Het
Qprt	C	A	7: 126,707,996 (GRCm39)	R145L	probably damaging	Het
Sertad4	T	C	1: 192,528,829 (GRCm39)	D329G	probably benign	Het
Setd2	C	T	9: 110,431,255 (GRCm39)	T583M		Het
Slc12a7	T	C	13: 73,947,839 (GRCm39)	I652T	probably damaging	Het
Slc27a5	T	C	7: 12,723,329 (GRCm39)	D539G	probably damaging	Het
Slc36a2	A	G	11: 55,055,095 (GRCm39)	I320T	probably benign	Het
Slc6a20a	A	G	9: 123,466,917 (GRCm39)	Y524H	probably damaging	Het
Slc6a20a	T	A	9: 123,493,639 (GRCm39)	S81C	probably damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Stag3	T	C	5: 138,299,465 (GRCm39)	M828T	possibly damaging	Het
Stk36	T	C	1: 74,651,925 (GRCm39)	V406A	probably benign	Het
Svep1	G	T	4: 58,146,637 (GRCm39)	P335Q	probably damaging	Het
Svs5	T	A	2: 164,175,341 (GRCm39)	S64R	possibly damaging	Het
Taf2	A	G	15: 54,928,013 (GRCm39)	V130A	possibly damaging	Het
Tbrg4	C	T	11: 6,568,517 (GRCm39)	V421M	probably damaging	Het
Tbx4	G	T	11: 85,804,986 (GRCm39)	K358N	probably damaging	Het
Tenm4	A	T	7: 96,353,248 (GRCm39)	T384S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Zfp574	T	A	7: 24,780,095 (GRCm39)	C372*	probably null	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
R3177: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
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'- GTCAATGACATTGGGGCCAC -3'
(R):5'- GTTGGCTAATCTGCTCATTGTC -3'

Sequencing Primer
(F):5'- GCCACAGAAGGGCAGATTAATC -3'
(R):5'- GGCTAATCTGCTCATTGTCCTCAC -3'

Posted On

2020-06-30