Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777-TAIL:Or6c3'

668129

Institutional Source

Beutler Lab

Gene Symbol

Or6c3

Ensembl Gene

ENSMUSG00000049217

Gene Name

olfactory receptor family 6 subfamily C member 3

Synonyms

GA_x6K02T2PULF-11151514-11152449, Olfr788, MOR111-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8777-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129308563-129309498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129309374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 271 (V271E)

Ref Sequence

ENSEMBL: ENSMUSP00000151054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056961] [ENSMUST00000213222]

AlphaFold

Q8VFI0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056961
AA Change: V271E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054710
Gene: ENSMUSG00000049217
AA Change: V271E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.8e-49	PFAM
Pfam:7tm_1	38	287	1.2e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213222
AA Change: V271E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,894 (GRCm39)	T816S	probably benign	Het
Aff4	G	A	11: 53,290,783 (GRCm39)	S581N	probably damaging	Het
Aimp2	G	A	5: 143,839,825 (GRCm39)	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,254,611 (GRCm39)	S35A	probably benign	Het
Atp1a4	A	T	1: 172,059,869 (GRCm39)	Y787N	probably damaging	Het
Btbd8	T	G	5: 107,658,293 (GRCm39)	I1621R	probably damaging	Het
Ccdc169	T	C	3: 55,058,334 (GRCm39)	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,801,793 (GRCm39)	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,893,282 (GRCm39)	T101I	probably benign	Het
Cdh13	G	T	8: 119,963,706 (GRCm39)		probably null	Het
Clec1b	A	T	6: 129,380,537 (GRCm39)	E151V	probably benign	Het
Cplx1	T	A	5: 108,673,435 (GRCm39)		probably null	Het
Diablo	T	A	5: 123,655,990 (GRCm39)	I150F	unknown	Het
Esp31	T	C	17: 38,955,582 (GRCm39)	V75A	probably benign	Het
Gm49336	G	A	14: 60,466,185 (GRCm39)	L458F	probably damaging	Het
Grin3b	A	T	10: 79,808,972 (GRCm39)	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,727,432 (GRCm39)	N182S	probably damaging	Het
Hephl1	T	G	9: 14,972,090 (GRCm39)	D950A	probably benign	Het
Hkdc1	A	G	10: 62,234,612 (GRCm39)	I556T	possibly damaging	Het
Ints4	C	A	7: 97,134,227 (GRCm39)	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,745,712 (GRCm39)	V124A	possibly damaging	Het
Lrpprc	T	A	17: 85,058,657 (GRCm39)	Q734H	probably benign	Het
Map1b	T	C	13: 99,567,304 (GRCm39)	T1806A	unknown	Het
Mcmbp	A	T	7: 128,308,855 (GRCm39)	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,141,237 (GRCm39)	G422S	probably damaging	Het
Mgam	A	G	6: 40,632,185 (GRCm39)	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422 (GRCm39)	G200S	probably benign	Het
Myh13	A	T	11: 67,252,161 (GRCm39)	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,083,398 (GRCm39)	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,913,089 (GRCm39)	V70I	probably benign	Het
Myof	A	G	19: 37,968,841 (GRCm39)	V358A	probably benign	Het
Ncor1	T	A	11: 62,324,494 (GRCm39)	H47L	probably damaging	Het
Ncor1	T	A	11: 62,324,492 (GRCm39)	I48F	probably benign	Het
Neurog2	G	T	3: 127,427,742 (GRCm39)	R122L	probably damaging	Het
Npdc1	T	A	2: 25,298,129 (GRCm39)	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,227,234 (GRCm39)	N290D	probably damaging	Het
Nynrin	T	C	14: 56,109,120 (GRCm39)	M1409T	probably benign	Het
Oas1h	T	C	5: 121,005,107 (GRCm39)	L185P	probably damaging	Het
Or10x4	A	T	1: 174,218,848 (GRCm39)	Y71F	probably damaging	Het
Or2z2	C	T	11: 58,346,757 (GRCm39)	W6*	probably null	Het
Osbpl8	T	A	10: 111,128,974 (GRCm39)	N853K	probably benign	Het
Pcsk4	G	T	10: 80,159,557 (GRCm39)	P405Q	probably benign	Het
Piwil4	A	C	9: 14,650,685 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,361,967 (GRCm39)	Y547H	probably damaging	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,266,273 (GRCm39)		probably benign	Het
Rft1	T	C	14: 30,382,156 (GRCm39)	L51P	probably damaging	Het
Rufy2	T	G	10: 62,833,660 (GRCm39)	L241V	possibly damaging	Het
Slc5a5	T	C	8: 71,343,934 (GRCm39)	I155V	possibly damaging	Het
Slc7a2	T	G	8: 41,351,991 (GRCm39)	M18R	probably damaging	Het
Snapc4	A	G	2: 26,259,375 (GRCm39)	S592P	probably benign	Het
Strn4	T	C	7: 16,550,533 (GRCm39)	W86R	probably damaging	Het
Tenm4	A	G	7: 96,545,244 (GRCm39)	N2457S	probably damaging	Het
Tent4a	T	A	13: 69,658,824 (GRCm39)	D337V	probably damaging	Het
Timd4	C	A	11: 46,706,309 (GRCm39)	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,496,076 (GRCm39)	N172K	probably damaging	Het
Trrap	T	A	5: 144,773,949 (GRCm39)	V2855D	probably benign	Het
Tubb6	A	T	18: 67,534,598 (GRCm39)	T166S	probably damaging	Het
Tufm	A	G	7: 126,088,034 (GRCm39)	Y179C	probably benign	Het
Tut7	T	C	13: 59,933,597 (GRCm39)	N1302D	probably benign	Het
Ube2r2	C	T	4: 41,190,715 (GRCm39)	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,217,946 (GRCm39)	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,195,692 (GRCm39)	F485L	probably benign	Het

Other mutations in Or6c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01669:Or6c3	APN	10	129,309,080 (GRCm39)	missense	probably damaging	1.00
IGL02393:Or6c3	APN	10	129,309,064 (GRCm39)	missense	probably damaging	1.00
IGL03010:Or6c3	APN	10	129,308,843 (GRCm39)	missense	probably damaging	1.00
IGL03325:Or6c3	APN	10	129,309,474 (GRCm39)	missense	probably benign	0.02
R1298:Or6c3	UTSW	10	129,308,933 (GRCm39)	missense	probably damaging	1.00
R2215:Or6c3	UTSW	10	129,309,289 (GRCm39)	missense	probably damaging	0.99
R5482:Or6c3	UTSW	10	129,308,947 (GRCm39)	missense	probably benign	0.31
R5699:Or6c3	UTSW	10	129,308,746 (GRCm39)	missense	probably damaging	1.00
R5794:Or6c3	UTSW	10	129,309,295 (GRCm39)	missense	possibly damaging	0.95
R6436:Or6c3	UTSW	10	129,308,773 (GRCm39)	missense	probably damaging	0.98
R6480:Or6c3	UTSW	10	129,308,590 (GRCm39)	missense	possibly damaging	0.62
R6884:Or6c3	UTSW	10	129,309,023 (GRCm39)	missense	probably damaging	1.00
R7908:Or6c3	UTSW	10	129,308,867 (GRCm39)	missense	probably damaging	1.00
R8056:Or6c3	UTSW	10	129,309,061 (GRCm39)	missense	probably benign	0.07
R8207:Or6c3	UTSW	10	129,308,953 (GRCm39)	missense	probably benign	0.09
R8777:Or6c3	UTSW	10	129,309,374 (GRCm39)	missense	possibly damaging	0.93
R8998:Or6c3	UTSW	10	129,309,386 (GRCm39)	missense	probably benign	0.36
R8999:Or6c3	UTSW	10	129,309,386 (GRCm39)	missense	probably benign	0.36
R9154:Or6c3	UTSW	10	129,308,690 (GRCm39)	missense	probably benign	0.20
Z1176:Or6c3	UTSW	10	129,309,484 (GRCm39)	missense	probably benign	0.04
Z1177:Or6c3	UTSW	10	129,308,933 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2021-03-08