Mutagenetix > Incidental Mutation

Incidental Mutation 'R5194:Or4c3'

399925

Institutional Source

Beutler Lab

Gene Symbol

Or4c3

Ensembl Gene

ENSMUSG00000075069

Gene Name

olfactory receptor family 4 subfamily C member 3

Synonyms

MOR236-1, GA_x6K02T2Q125-51454183-51453257, Olfr1264

MMRRC Submission

042770-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R5194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89851482-89852408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89851870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 180 (Y180F)

Ref Sequence

ENSEMBL: ENSMUSP00000149126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099758] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]

AlphaFold

Q9R0K2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099758
AA Change: Y180F

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

SMART Domains

Protein: ENSMUSP00000097347
Gene: ENSMUSG00000075069
AA Change: Y180F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.8e-47	PFAM
Pfam:7tm_1	39	285	2.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214382

Predicted Effect

probably damaging
Transcript: ENSMUST00000216616
AA Change: Y180F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216764

Predicted Effect

probably benign
Transcript: ENSMUST00000217065

Meta Mutation Damage Score

0.2672

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,059 (GRCm39)	N82D	probably benign	Het
Aadacl4fm2	A	G	4: 144,281,652 (GRCm39)	V380A	probably benign	Het
Acadm	C	T	3: 153,638,755 (GRCm39)	R206H	possibly damaging	Het
Acly	T	A	11: 100,414,372 (GRCm39)	Y18F	probably benign	Het
Acnat2	G	T	4: 49,380,452 (GRCm39)	Q291K	probably benign	Het
Agtpbp1	T	C	13: 59,648,453 (GRCm39)	I456V	probably benign	Het
Ankrd7	A	G	6: 18,868,076 (GRCm39)	N114S	possibly damaging	Het
Arfgef1	A	T	1: 10,275,132 (GRCm39)	L307I	probably benign	Het
Arhgef2	A	T	3: 88,542,956 (GRCm39)	I383F	probably damaging	Het
Cbs	C	T	17: 31,843,198 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,763,624 (GRCm39)	V538A	probably benign	Het
Dennd5a	T	C	7: 109,532,936 (GRCm39)	E254G	probably damaging	Het
Drc7	T	C	8: 95,788,345 (GRCm39)	V236A	probably benign	Het
Dtna	C	T	18: 23,723,302 (GRCm39)	Q169*	probably null	Het
Egfem1	G	A	3: 29,411,345 (GRCm39)		probably null	Het
Eif2ak3	T	C	6: 70,835,462 (GRCm39)	S130P	possibly damaging	Het
Ewsr1	T	C	11: 5,032,355 (GRCm39)	N297S	unknown	Het
F13a1	T	G	13: 37,156,037 (GRCm39)	D192A	probably damaging	Het
Fam120a	A	G	13: 49,034,411 (GRCm39)	V1067A	probably benign	Het
Gm17490	T	C	2: 11,631,062 (GRCm39)	Y5C	unknown	Het
Gm57859	T	C	11: 113,579,654 (GRCm39)	S350P	possibly damaging	Het
Gm8587	C	T	12: 88,056,556 (GRCm39)		noncoding transcript	Het
H2-Ab1	C	T	17: 34,488,352 (GRCm39)		probably benign	Het
Hoxd12	T	C	2: 74,505,447 (GRCm39)	L6P	probably damaging	Het
Ifi204	C	T	1: 173,576,910 (GRCm39)	D564N	possibly damaging	Het
Irak2	T	C	6: 113,667,751 (GRCm39)	V444A	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrba	A	C	3: 86,235,526 (GRCm39)	N877H	probably damaging	Het
Mylk3	T	C	8: 86,079,495 (GRCm39)	I388V	probably benign	Het
Myo9b	C	T	8: 71,801,733 (GRCm39)	A1286V	probably benign	Het
Myt1l	A	C	12: 29,861,647 (GRCm39)	D143A	unknown	Het
Ngfr	T	C	11: 95,471,808 (GRCm39)	N63S	probably benign	Het
Or2ag16	A	T	7: 106,352,426 (GRCm39)	H56Q	probably benign	Het
Or51a7	A	G	7: 102,615,071 (GRCm39)	I255V	probably benign	Het
Or6c70	C	T	10: 129,709,967 (GRCm39)	V220I	probably benign	Het
Or6z6	A	G	7: 6,491,519 (GRCm39)	L118P	probably damaging	Het
P2rx7	T	C	5: 122,811,858 (GRCm39)	S390P	probably benign	Het
Pcdhga4	A	C	18: 37,820,794 (GRCm39)	Q781P	probably benign	Het
Phip	G	A	9: 82,790,915 (GRCm39)	S677F	probably benign	Het
Ptpdc1	C	A	13: 48,740,265 (GRCm39)	V389F	possibly damaging	Het
Rab2a	T	A	4: 8,604,381 (GRCm39)	I161N	probably benign	Het
Rnf113a2	T	A	12: 84,464,111 (GRCm39)	M1K	probably null	Het
Schip1	T	C	3: 68,402,205 (GRCm39)	V122A	probably benign	Het
Sdr16c5	C	A	4: 4,006,663 (GRCm39)	A210S	probably benign	Het
Sh3bp1	A	G	15: 78,787,301 (GRCm39)	K83E	probably damaging	Het
Sipa1l2	T	C	8: 126,166,012 (GRCm39)	S1541G	possibly damaging	Het
Slc22a21	T	C	11: 53,870,673 (GRCm39)	Y4C	probably damaging	Het
Smco1	C	T	16: 32,092,592 (GRCm39)	H88Y	probably damaging	Het
Tll2	T	C	19: 41,084,336 (GRCm39)	D697G	probably damaging	Het
Trim34a	A	G	7: 103,910,200 (GRCm39)	N334S	possibly damaging	Het
Ubqln1	A	G	13: 58,346,847 (GRCm39)	I64T	probably benign	Het
Vstm2b	T	A	7: 40,551,912 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,140,639 (GRCm39)	F238L	probably damaging	Het
Wiz	T	C	17: 32,596,822 (GRCm39)		probably benign	Het
Zfp407	T	C	18: 84,579,434 (GRCm39)	S560G	probably benign	Het

Other mutations in Or4c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1635:Or4c3	UTSW	2	89,852,314 (GRCm39)	missense	possibly damaging	0.94
R1758:Or4c3	UTSW	2	89,851,673 (GRCm39)	missense	probably benign
R1930:Or4c3	UTSW	2	89,851,505 (GRCm39)	missense	probably benign
R2159:Or4c3	UTSW	2	89,851,882 (GRCm39)	missense	probably damaging	0.97
R3977:Or4c3	UTSW	2	89,852,089 (GRCm39)	missense	probably damaging	1.00
R4028:Or4c3	UTSW	2	89,851,567 (GRCm39)	missense	probably damaging	1.00
R4884:Or4c3	UTSW	2	89,851,987 (GRCm39)	missense	probably benign	0.19
R5225:Or4c3	UTSW	2	89,851,528 (GRCm39)	missense	probably benign	0.00
R5399:Or4c3	UTSW	2	89,852,267 (GRCm39)	missense	probably benign	0.19
R5436:Or4c3	UTSW	2	89,852,009 (GRCm39)	missense	probably benign	0.25
R5753:Or4c3	UTSW	2	89,851,847 (GRCm39)	missense	possibly damaging	0.87
R6225:Or4c3	UTSW	2	89,851,573 (GRCm39)	splice site	probably null
R6391:Or4c3	UTSW	2	89,851,975 (GRCm39)	missense	probably benign	0.03
R6531:Or4c3	UTSW	2	89,851,801 (GRCm39)	missense	probably benign	0.03
R7293:Or4c3	UTSW	2	89,851,871 (GRCm39)	missense	probably damaging	1.00
R7880:Or4c3	UTSW	2	89,852,381 (GRCm39)	missense	probably damaging	1.00
R8014:Or4c3	UTSW	2	89,852,087 (GRCm39)	missense	possibly damaging	0.95
R8887:Or4c3	UTSW	2	89,852,269 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TAACCACAGTGAAGTGAGCCC -3'
(R):5'- CTCACAGTGATGGCCTATGACC -3'

Sequencing Primer
(F):5'- CCACAGGTAGACAGAGCTTTCCG -3'
(R):5'- CGCTATGTGGCCATCTGCAAAC -3'

Posted On

2016-07-06