Mutagenetix > Incidental Mutation

Incidental Mutation 'R1165:Or7c19'

100944

Institutional Source

Beutler Lab

Gene Symbol

Or7c19

Ensembl Gene

ENSMUSG00000051952

Gene Name

olfactory receptor family 7 subfamily C member 19

Synonyms

MOR141-3, Olfr371, GA_x6K02T2NUPS-13298842-13299780

MMRRC Submission

039238-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85957126-85958064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85957400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 92 (I92N)

Ref Sequence

ENSEMBL: ENSMUSP00000151714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070849] [ENSMUST00000218663]

AlphaFold

Q8VGB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000070849
AA Change: I92N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077921
Gene: ENSMUSG00000051952
AA Change: I92N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.1e-55	PFAM
Pfam:7TM_GPCR_Srx	32	305	2.2e-6	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.2e-8	PFAM
Pfam:7tm_1	41	290	9.2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218663
AA Change: I92N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,482,406 (GRCm39)	C1209G	probably benign	Het
Abcg2	C	A	6: 58,655,285 (GRCm39)	L407I	probably benign	Het
Adtrp	A	G	13: 41,967,779 (GRCm39)	V56A	probably damaging	Het
Angptl6	T	G	9: 20,789,604 (GRCm39)	N96T	probably benign	Het
Ank3	C	A	10: 69,734,132 (GRCm39)	N780K	possibly damaging	Het
AU040320	A	T	4: 126,717,433 (GRCm39)		probably benign	Het
Best2	C	T	8: 85,737,789 (GRCm39)	R202H	probably benign	Het
Bod1l	A	T	5: 41,978,396 (GRCm39)	S973T	probably benign	Het
Brca2	T	A	5: 150,466,212 (GRCm39)	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563 (GRCm39)	P539L	probably benign	Het
Ccr1	A	T	9: 123,763,531 (GRCm39)	V333E	possibly damaging	Het
Celf5	A	T	10: 81,307,172 (GRCm39)	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275 (GRCm39)		probably benign	Het
Coro1b	C	A	19: 4,199,901 (GRCm39)	H81N	probably damaging	Het
Cwc22	A	T	2: 77,734,242 (GRCm39)	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,678,242 (GRCm39)	G45W	probably damaging	Het
Dysf	T	A	6: 84,044,051 (GRCm39)	N297K	probably damaging	Het
Edem1	T	A	6: 108,828,214 (GRCm39)	L513Q	probably damaging	Het
Erich1	G	A	8: 14,140,530 (GRCm39)		probably benign	Het
Fam91a1	T	C	15: 58,302,518 (GRCm39)	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,162,608 (GRCm39)		probably benign	Het
Gas7	T	C	11: 67,561,512 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,705,397 (GRCm39)	D151G	probably damaging	Het
Gm14410	A	C	2: 176,885,282 (GRCm39)	Y327*	probably null	Het
Grep1	A	C	17: 23,929,489 (GRCm39)		probably benign	Het
H6pd	A	G	4: 150,080,413 (GRCm39)	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,810,947 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,840 (GRCm39)	T519A	possibly damaging	Het
Hpd	A	G	5: 123,314,153 (GRCm39)		probably null	Het
Insyn2b	A	G	11: 34,352,740 (GRCm39)	T261A	probably benign	Het
Or6c76	A	G	10: 129,612,302 (GRCm39)	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,140,757 (GRCm39)		probably benign	Het
Pdgfrb	T	C	18: 61,197,074 (GRCm39)	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,115,420 (GRCm39)	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,694,017 (GRCm39)	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Rtel1	A	G	2: 180,976,732 (GRCm39)	K243E	probably benign	Het
Slc19a2	G	A	1: 164,091,014 (GRCm39)	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,887,059 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,790 (GRCm39)	F266L	probably damaging	Het
Snx25	T	G	8: 46,488,752 (GRCm39)	I868L	probably damaging	Het
Spag16	A	G	1: 70,036,036 (GRCm39)	I355V	probably benign	Het
Tmem198	A	T	1: 75,456,576 (GRCm39)		probably benign	Het
Traf3ip3	A	C	1: 192,866,786 (GRCm39)	S349A	probably damaging	Het
Trim17	A	G	11: 58,862,041 (GRCm39)	N358D	possibly damaging	Het
Trmu	A	G	15: 85,776,875 (GRCm39)	T196A	probably damaging	Het
Tsen2	A	G	6: 115,538,396 (GRCm39)	Y291C	probably damaging	Het
Vps13d	A	G	4: 144,853,041 (GRCm39)	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,946 (GRCm39)	H317R	probably benign	Het
Zfp120	A	T	2: 149,961,849 (GRCm39)	V33E	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Or7c19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Or7c19	APN	8	85,957,813 (GRCm39)	missense	probably benign	0.14
IGL01380:Or7c19	APN	8	85,957,775 (GRCm39)	missense	probably damaging	0.99
IGL01380:Or7c19	APN	8	85,957,958 (GRCm39)	missense	possibly damaging	0.95
IGL01680:Or7c19	APN	8	85,957,308 (GRCm39)	missense	probably benign
IGL01880:Or7c19	APN	8	85,957,712 (GRCm39)	missense	probably benign	0.00
IGL02194:Or7c19	APN	8	85,957,262 (GRCm39)	missense	possibly damaging	0.82
IGL02416:Or7c19	APN	8	85,957,662 (GRCm39)	nonsense	probably null
IGL02494:Or7c19	APN	8	85,957,312 (GRCm39)	missense	possibly damaging	0.95
IGL03072:Or7c19	APN	8	85,957,139 (GRCm39)	missense	probably benign	0.08
IGL03130:Or7c19	APN	8	85,957,258 (GRCm39)	missense	possibly damaging	0.93
R0017:Or7c19	UTSW	8	85,957,706 (GRCm39)	missense	probably benign	0.25
R1157:Or7c19	UTSW	8	85,957,889 (GRCm39)	missense	probably damaging	0.98
R1730:Or7c19	UTSW	8	85,957,477 (GRCm39)	missense	probably benign	0.16
R2017:Or7c19	UTSW	8	85,957,373 (GRCm39)	missense	possibly damaging	0.91
R2426:Or7c19	UTSW	8	85,957,693 (GRCm39)	missense	probably damaging	0.97
R4447:Or7c19	UTSW	8	85,957,995 (GRCm39)	nonsense	probably null
R4703:Or7c19	UTSW	8	85,957,237 (GRCm39)	missense	possibly damaging	0.95
R4797:Or7c19	UTSW	8	85,957,567 (GRCm39)	missense	probably benign
R5029:Or7c19	UTSW	8	85,957,835 (GRCm39)	missense	probably benign	0.00
R5173:Or7c19	UTSW	8	85,957,205 (GRCm39)	missense	probably damaging	0.99
R6349:Or7c19	UTSW	8	85,957,787 (GRCm39)	missense	possibly damaging	0.93
R7754:Or7c19	UTSW	8	85,957,427 (GRCm39)	missense	possibly damaging	0.71
R8955:Or7c19	UTSW	8	85,957,913 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2014-01-15