Mutagenetix > Incidental Mutation

Incidental Mutation 'R0117:Or8g19'

20878

Institutional Source

Beutler Lab

Gene Symbol

Or8g19

Ensembl Gene

ENSMUSG00000049708

Gene Name

olfactory receptor family 8 subfamily G member 19

Synonyms

MOR171-6, GA_x6K02T2PVTD-32841223-32842158, Olfr27, MTPCR56, Olfr242, GA_x6K02T2KYVW-1037-120

MMRRC Submission

038403-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0117 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

39039463-39056368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39056146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 250 (I250N)

Ref Sequence

ENSEMBL: ENSMUSP00000150009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214052] [ENSMUST00000216405]

AlphaFold

Q9EQ90

Predicted Effect

probably damaging
Transcript: ENSMUST00000057811
AA Change: I250N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110642
Gene: ENSMUSG00000049708
AA Change: I250N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.6e-49	PFAM
Pfam:7tm_1	41	290	2.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214052
AA Change: I250N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216405
AA Change: I250N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.2007

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.1%

Validation Efficiency

95% (59/62)

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
Angptl4	A	T	17: 33,999,776 (GRCm39)	I141K	probably damaging	Het
Bbs10	T	A	10: 111,135,194 (GRCm39)	D102E	possibly damaging	Het
Btaf1	A	G	19: 36,947,368 (GRCm39)	T486A	probably benign	Het
Casp8ap2	A	G	4: 32,640,817 (GRCm39)	T624A	probably benign	Het
Cep192	T	C	18: 67,983,808 (GRCm39)		probably null	Het
Cep76	T	C	18: 67,759,744 (GRCm39)	Y323C	possibly damaging	Het
CK137956	T	A	4: 127,840,585 (GRCm39)	T374S	possibly damaging	Het
Cyp2b23	A	T	7: 26,372,539 (GRCm39)	F359I	probably benign	Het
Cyp4f13	G	T	17: 33,149,580 (GRCm39)	H194Q	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dscam	T	C	16: 96,474,878 (GRCm39)	H1228R	probably benign	Het
Eps15	T	A	4: 109,240,016 (GRCm39)	D667E	probably damaging	Het
Fig4	G	A	10: 41,106,037 (GRCm39)	R716*	probably null	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Gmpr	T	A	13: 45,670,560 (GRCm39)		probably null	Het
Gsta5	C	T	9: 78,211,700 (GRCm39)	T154I	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Herc2	C	A	7: 55,863,359 (GRCm39)		probably benign	Het
Htr2a	G	A	14: 74,882,533 (GRCm39)	R173H	probably damaging	Het
Impg2	A	G	16: 56,082,005 (GRCm39)	N979S	probably damaging	Het
Kcna2	A	G	3: 107,012,670 (GRCm39)	Y417C	probably damaging	Het
Lmf1	G	T	17: 25,874,965 (GRCm39)		probably benign	Het
Lmntd2	G	A	7: 140,790,036 (GRCm39)	R659C	possibly damaging	Het
Mcm9	A	G	10: 53,413,832 (GRCm39)	V416A	possibly damaging	Het
Mgarp	G	T	3: 51,304,133 (GRCm39)		probably benign	Het
Mpp3	G	A	11: 101,891,399 (GRCm39)	P580S	probably damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Ninl	G	A	2: 150,779,593 (GRCm39)	R269W	probably damaging	Het
Or7e170	T	C	9: 19,795,595 (GRCm39)	E2G	probably damaging	Het
Or8h8	T	A	2: 86,753,214 (GRCm39)	I221F	probably damaging	Het
Pcnt	A	T	10: 76,244,561 (GRCm39)	L1173*	probably null	Het
Pde6c	A	G	19: 38,139,979 (GRCm39)	E314G	probably damaging	Het
Peds1	A	G	2: 167,486,678 (GRCm39)		probably benign	Het
Phldb1	T	C	9: 44,623,003 (GRCm39)	M1V	probably null	Het
Pkdrej	T	A	15: 85,700,300 (GRCm39)		probably null	Het
Plch2	T	A	4: 155,069,815 (GRCm39)		probably benign	Het
Pld2	G	A	11: 70,448,214 (GRCm39)	R887Q	probably benign	Het
Plxnb1	A	G	9: 108,934,286 (GRCm39)	D838G	possibly damaging	Het
Postn	C	T	3: 54,290,902 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,473 (GRCm39)	I172F	probably damaging	Het
Psmc4	A	T	7: 27,742,165 (GRCm39)		probably benign	Het
Rabgap1	T	A	2: 37,451,897 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 78,986,484 (GRCm39)	S1017P	probably benign	Het
Rbak	G	T	5: 143,159,387 (GRCm39)	Y555*	probably null	Het
Serpina1c	T	G	12: 103,861,271 (GRCm39)	*414C	probably null	Het
Sntb1	A	G	15: 55,769,749 (GRCm39)	V80A	probably benign	Het
Sorl1	A	G	9: 41,944,873 (GRCm39)	V884A	probably benign	Het
Stmnd1	C	A	13: 46,438,962 (GRCm39)	Q65K	possibly damaging	Het
Tgm5	C	T	2: 120,905,583 (GRCm39)		probably null	Het
Tubb1	T	C	2: 174,299,577 (GRCm39)	S420P	probably benign	Het
Tvp23b	T	C	11: 62,770,430 (GRCm39)		probably benign	Het
Xirp2	C	T	2: 67,347,464 (GRCm39)	A3235V	possibly damaging	Het
Zc3h15	T	C	2: 83,488,427 (GRCm39)	S122P	possibly damaging	Het

Other mutations in Or8g19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Or8g19	APN	9	39,056,053 (GRCm39)	missense	possibly damaging	0.94
IGL00905:Or8g19	APN	9	39,056,326 (GRCm39)	missense	probably damaging	1.00
IGL02346:Or8g19	APN	9	39,055,939 (GRCm39)	missense	probably damaging	1.00
R0118:Or8g19	UTSW	9	39,055,399 (GRCm39)	start codon destroyed	probably null	0.97
R0590:Or8g19	UTSW	9	39,056,017 (GRCm39)	missense	probably benign	0.01
R2915:Or8g19	UTSW	9	39,055,762 (GRCm39)	missense	possibly damaging	0.94
R4299:Or8g19	UTSW	9	39,056,295 (GRCm39)	missense	probably benign	0.11
R4367:Or8g19	UTSW	9	39,055,725 (GRCm39)	missense	probably damaging	0.98
R4663:Or8g19	UTSW	9	39,056,145 (GRCm39)	missense	probably damaging	0.97
R5276:Or8g19	UTSW	9	39,055,611 (GRCm39)	missense	probably damaging	1.00
R5503:Or8g19	UTSW	9	39,055,780 (GRCm39)	missense	probably benign	0.02
R5742:Or8g19	UTSW	9	39,055,974 (GRCm39)	missense	probably benign	0.07
R5986:Or8g19	UTSW	9	39,056,278 (GRCm39)	missense	probably null	1.00
R6801:Or8g19	UTSW	9	39,055,506 (GRCm39)	missense	probably benign	0.01
R7247:Or8g19	UTSW	9	39,056,153 (GRCm39)	nonsense	probably null
R7520:Or8g19	UTSW	9	39,055,414 (GRCm39)	missense	probably benign
R7787:Or8g19	UTSW	9	39,055,548 (GRCm39)	missense	probably benign	0.22
R8360:Or8g19	UTSW	9	39,055,761 (GRCm39)	nonsense	probably null
R8721:Or8g19	UTSW	9	39,055,386 (GRCm39)	start gained	probably benign
R8880:Or8g19	UTSW	9	39,055,899 (GRCm39)	missense	probably damaging	1.00
R8883:Or8g19	UTSW	9	39,056,083 (GRCm39)	missense	probably benign	0.00
R9143:Or8g19	UTSW	9	39,055,722 (GRCm39)	missense	possibly damaging	0.94
R9445:Or8g19	UTSW	9	39,055,766 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTCATGCTTAGGACTCAGTTCTGCAA -3'
(R):5'- GGGACCACTTAAAATTACAGCACTCTCA -3'

Sequencing Primer
(F):5'- GCTTAGGACTCAGTTCTGCAATTTAG -3'
(R):5'- ACAATGTTCACATGATTCCTGC -3'

Posted On

2013-04-11