Mutagenetix > Incidental Mutation

Incidental Mutation 'R0537:Or7g19'

49505

Institutional Source

Beutler Lab

Gene Symbol

Or7g19

Ensembl Gene

ENSMUSG00000095957

Gene Name

olfactory receptor family 7 subfamily G member 19

Synonyms

GA_x6K02T2PVTD-12687800-12688738, Olfr832, MOR153-1

MMRRC Submission

038729-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R0537 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18855946-18856884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18856444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 167 (S167P)

Ref Sequence

ENSEMBL: ENSMUSP00000151834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060601] [ENSMUST00000218385]

AlphaFold

Q7TRG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000060601
AA Change: S167P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056724
Gene: ENSMUSG00000095957
AA Change: S167P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.1e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.1e-6	PFAM
Pfam:7tm_1	41	290	1.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218385
AA Change: S167P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (53/53)

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
4930474N05Rik	A	T	14: 35,818,657 (GRCm39)	K218N	probably benign	Het
Acot11	T	C	4: 106,619,652 (GRCm39)	E156G	probably benign	Het
Arhgef28	A	T	13: 98,094,224 (GRCm39)	N973K	probably damaging	Het
B4galt3	T	C	1: 171,101,821 (GRCm39)		probably benign	Het
Bmpr1a	T	C	14: 34,165,769 (GRCm39)		probably benign	Het
Camkmt	A	T	17: 85,702,087 (GRCm39)	I184F	probably benign	Het
Ccdc33	T	C	9: 58,024,737 (GRCm39)	Y163C	probably damaging	Het
Ccdc9	A	G	7: 16,014,701 (GRCm39)		probably benign	Het
Dars2	A	T	1: 160,888,318 (GRCm39)	C201S	possibly damaging	Het
Dnajc1	A	T	2: 18,312,767 (GRCm39)	S194R	possibly damaging	Het
Dock8	A	G	19: 25,148,941 (GRCm39)	D1473G	probably benign	Het
Dpm2	T	A	2: 32,462,961 (GRCm39)		probably null	Het
Dsg4	T	C	18: 20,591,628 (GRCm39)	S456P	probably damaging	Het
Gys1	T	C	7: 45,089,425 (GRCm39)	S195P	probably damaging	Het
Heatr6	G	T	11: 83,670,290 (GRCm39)	E948*	probably null	Het
Itgal	G	A	7: 126,910,445 (GRCm39)	R518Q	possibly damaging	Het
Klhdc8b	G	C	9: 108,326,422 (GRCm39)	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Lrrtm4	A	T	6: 79,999,103 (GRCm39)	T172S	probably benign	Het
Lypd1	A	G	1: 125,840,604 (GRCm39)		probably benign	Het
Mei1	T	C	15: 81,975,562 (GRCm39)	F121S	possibly damaging	Het
Mtor	C	T	4: 148,622,817 (GRCm39)	R1966W	probably damaging	Het
Myh7	A	G	14: 55,228,256 (GRCm39)	F247L	possibly damaging	Het
Nebl	G	T	2: 17,409,026 (GRCm39)	D392E	possibly damaging	Het
Notch2	C	A	3: 98,024,057 (GRCm39)	N840K	possibly damaging	Het
Nubp1	T	C	16: 10,240,678 (GRCm39)		probably benign	Het
Or5w16	A	T	2: 87,577,017 (GRCm39)	Q159L	probably benign	Het
Pcdh17	T	A	14: 84,684,897 (GRCm39)	S455T	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pold1	T	C	7: 44,184,516 (GRCm39)	E828G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rala	A	T	13: 18,063,233 (GRCm39)	N119K	probably benign	Het
Rasal2	A	T	1: 156,975,362 (GRCm39)	V1149E	possibly damaging	Het
Rd3	A	G	1: 191,715,501 (GRCm39)	Y92C	probably damaging	Het
Rps18-ps6	A	T	13: 97,897,071 (GRCm39)	F9Y	probably benign	Het
Sart1	A	T	19: 5,431,752 (GRCm39)	D635E	probably damaging	Het
Sec16b	A	G	1: 157,365,116 (GRCm39)	T335A	possibly damaging	Het
Slc11a2	C	T	15: 100,303,679 (GRCm39)	G185R	probably damaging	Het
Slc2a12	G	A	10: 22,540,967 (GRCm39)	R274H	probably damaging	Het
Spag17	T	C	3: 100,032,618 (GRCm39)	V2276A	probably damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tenm2	T	C	11: 36,054,557 (GRCm39)	D601G	probably damaging	Het
Tmem168	C	A	6: 13,603,360 (GRCm39)	C2F	probably damaging	Het
Tmem80	A	G	7: 140,913,609 (GRCm39)	Y13C	probably damaging	Het
Try4	T	A	6: 41,281,296 (GRCm39)	N79K	probably benign	Het
Vldlr	C	A	19: 27,225,318 (GRCm39)	N798K	probably damaging	Het
Wdr41	A	G	13: 95,131,813 (GRCm39)		probably benign	Het
Zfp30	A	T	7: 29,492,160 (GRCm39)	E138V	probably damaging	Het
Zfp366	A	C	13: 99,365,786 (GRCm39)	T316P	probably damaging	Het
Zfp563	A	T	17: 33,323,659 (GRCm39)	S85C	possibly damaging	Het
Znfx1	T	C	2: 166,883,621 (GRCm39)	H162R	probably damaging	Het

Other mutations in Or7g19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03018:Or7g19	APN	9	18,856,177 (GRCm39)	missense	probably damaging	0.98
IGL03172:Or7g19	APN	9	18,856,757 (GRCm39)	missense	probably benign	0.01
R1923:Or7g19	UTSW	9	18,856,781 (GRCm39)	missense	probably benign	0.21
R2226:Or7g19	UTSW	9	18,856,177 (GRCm39)	missense	probably damaging	0.98
R2234:Or7g19	UTSW	9	18,856,112 (GRCm39)	missense	probably damaging	1.00
R2402:Or7g19	UTSW	9	18,856,496 (GRCm39)	missense	probably damaging	0.98
R4060:Or7g19	UTSW	9	18,856,346 (GRCm39)	missense	probably benign	0.09
R4537:Or7g19	UTSW	9	18,856,526 (GRCm39)	missense	possibly damaging	0.85
R4715:Or7g19	UTSW	9	18,856,742 (GRCm39)	missense	probably benign	0.01
R5557:Or7g19	UTSW	9	18,856,466 (GRCm39)	missense	possibly damaging	0.94
R6001:Or7g19	UTSW	9	18,856,340 (GRCm39)	missense	probably damaging	1.00
R6172:Or7g19	UTSW	9	18,856,042 (GRCm39)	missense	probably benign	0.00
R6415:Or7g19	UTSW	9	18,856,415 (GRCm39)	missense	probably damaging	1.00
R6594:Or7g19	UTSW	9	18,856,127 (GRCm39)	missense	probably damaging	0.98
R6874:Or7g19	UTSW	9	18,856,777 (GRCm39)	missense	possibly damaging	0.95
R7801:Or7g19	UTSW	9	18,856,555 (GRCm39)	missense	probably damaging	0.97
R7818:Or7g19	UTSW	9	18,856,305 (GRCm39)	nonsense	probably null
R7880:Or7g19	UTSW	9	18,856,024 (GRCm39)	missense	probably benign	0.06
R7890:Or7g19	UTSW	9	18,856,799 (GRCm39)	missense	probably benign	0.10
R8352:Or7g19	UTSW	9	18,856,459 (GRCm39)	missense	possibly damaging	0.51
R8452:Or7g19	UTSW	9	18,856,459 (GRCm39)	missense	possibly damaging	0.51
R8776:Or7g19	UTSW	9	18,856,286 (GRCm39)	missense	possibly damaging	0.93
R8776-TAIL:Or7g19	UTSW	9	18,856,286 (GRCm39)	missense	possibly damaging	0.93
R8931:Or7g19	UTSW	9	18,855,920 (GRCm39)	splice site	probably benign
R9438:Or7g19	UTSW	9	18,856,326 (GRCm39)	nonsense	probably null
Z1088:Or7g19	UTSW	9	18,856,717 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GGTGAACATACAGGCTCAGGTCAAC -3'
(R):5'- TGGAGCTATGAGTGCCAGCAGAAC -3'

Sequencing Primer
(F):5'- AATCAGTTATACAGGCTGCCTC -3'
(R):5'- TGAGTGCCAGCAGAACTTAAATAAAC -3'

Posted On

2013-06-12