Mutagenetix > Incidental Mutation

Incidental Mutation 'R5986:Or8g19'

481656

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

044166-MU

Accession Numbers

Essential gene?

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

Stock #

R5986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39039463-39056368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39056278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 294 (N294S)

Ref Sequence

ENSEMBL: ENSMUSP00000150009 (fasta)

Gene Model

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

AlphaFold

Q9EQ90

Predicted Effect

probably null
Transcript: ENSMUST00000057811
AA Change: N294S

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

SMART Domains

Protein: ENSMUSP00000110642
Gene: ENSMUSG00000049708
AA Change: N294S

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 null
Transcript: ENSMUST00000214052
AA Change: N294S

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

Predicted Effect

probably null
Transcript: ENSMUST00000216405
AA Change: N294S

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,566,145 (GRCm39)	F992I	probably damaging	Het
Ampd1	T	C	3: 102,992,713 (GRCm39)	F152L	probably damaging	Het
Ank2	T	C	3: 126,806,335 (GRCm39)	H602R	possibly damaging	Het
Ankib1	T	C	5: 3,797,071 (GRCm39)	D247G	probably damaging	Het
Bccip	T	A	7: 133,322,594 (GRCm39)	H313Q	probably benign	Het
Ccdc198	A	T	14: 49,470,403 (GRCm39)	L172H	probably damaging	Het
Cep250	A	G	2: 155,821,197 (GRCm39)	E929G	probably damaging	Het
Chl1	C	A	6: 103,686,152 (GRCm39)	L954I	probably benign	Het
Cog5	A	T	12: 31,710,716 (GRCm39)	D32V	probably benign	Het
Cyp4f16	C	A	17: 32,763,116 (GRCm39)	A187E	probably benign	Het
Dffb	A	T	4: 154,050,050 (GRCm39)	V271E	probably damaging	Het
Dnah8	A	G	17: 31,070,604 (GRCm39)	Y4430C	possibly damaging	Het
Dpp3	T	C	19: 4,968,385 (GRCm39)	E229G	probably benign	Het
Fat3	T	A	9: 15,909,613 (GRCm39)	N2130Y	probably benign	Het
Kcnk3	T	C	5: 30,745,722 (GRCm39)	V21A	possibly damaging	Het
Kif9	G	A	9: 110,319,094 (GRCm39)	S186N	probably benign	Het
Lhfpl3	C	A	5: 22,951,424 (GRCm39)	N78K	probably benign	Het
Ly6c1	A	G	15: 74,917,457 (GRCm39)	S64P	probably damaging	Het
Mapk10	T	C	5: 103,186,446 (GRCm39)	T59A	probably benign	Het
Mars1	A	T	10: 127,140,171 (GRCm39)	C394*	probably null	Het
Mettl16	T	A	11: 74,683,063 (GRCm39)	D168E	possibly damaging	Het
Mgat2	A	T	12: 69,232,158 (GRCm39)	Q244L	probably benign	Het
Mrps30	A	G	13: 118,521,101 (GRCm39)		probably null	Het
Myrip	C	A	9: 120,290,487 (GRCm39)	A702E	probably damaging	Het
Nepn	T	C	10: 52,280,168 (GRCm39)	L420P	probably damaging	Het
Nrn1	A	T	13: 36,918,238 (GRCm39)	Y9*	probably null	Het
Nup107	T	C	10: 117,595,081 (GRCm39)	Y752C	probably damaging	Het
Nutm2	A	T	13: 50,628,496 (GRCm39)	D520V	probably damaging	Het
Olfm2	C	T	9: 20,586,946 (GRCm39)	C48Y	probably damaging	Het
Or52j3	T	C	7: 102,836,735 (GRCm39)	F309S	possibly damaging	Het
Osbpl1a	T	A	18: 13,038,138 (GRCm39)	D271V	probably damaging	Het
Osmr	G	T	15: 6,873,934 (GRCm39)	D154E	probably benign	Het
Pcdh9	A	G	14: 94,124,484 (GRCm39)	V562A	probably damaging	Het
Peak1	A	C	9: 56,166,726 (GRCm39)	S401A	probably benign	Het
Pigk	A	T	3: 152,446,486 (GRCm39)	H195L	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Ppp2r1a	C	T	17: 21,171,608 (GRCm39)	R28C	probably damaging	Het
Pramel30	G	T	4: 144,059,323 (GRCm39)	V345F	probably damaging	Het
Ptbp3	T	C	4: 59,493,311 (GRCm39)	D123G	probably benign	Het
Ptgr2	G	A	12: 84,355,120 (GRCm39)	E285K	possibly damaging	Het
Rassf1	G	T	9: 107,429,021 (GRCm39)	V76L	possibly damaging	Het
Sec22a	A	G	16: 35,134,461 (GRCm39)	V307A	probably damaging	Het
Skint5	C	T	4: 113,852,845 (GRCm39)	V18I	probably benign	Het
Slc1a5	T	C	7: 16,516,151 (GRCm39)	V109A	probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tiam1	T	C	16: 89,586,074 (GRCm39)	E602G	probably benign	Het
Tll1	T	C	8: 64,527,297 (GRCm39)	E408G	probably damaging	Het
Tpsb2	G	A	17: 25,586,108 (GRCm39)	V109M	probably benign	Het
Trib1	T	A	15: 59,526,451 (GRCm39)		probably null	Het
Trio	G	T	15: 27,852,019 (GRCm39)	A765E	possibly damaging	Het
Uggt2	A	T	14: 119,286,838 (GRCm39)	V193E	probably damaging	Het
Vmn1r115	G	A	7: 20,578,447 (GRCm39)	P155L	probably benign	Het
Wdr31	A	G	4: 62,374,113 (GRCm39)	L292S	probably benign	Het
Xrra1	T	C	7: 99,525,462 (GRCm39)	I127T	probably benign	Het
Yju2	G	A	17: 56,269,030 (GRCm39)	C46Y	probably damaging	Het
Zfp442	G	A	2: 150,249,944 (GRCm39)	Q596*	probably null	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
R0117:Or8g19	UTSW	9	39,056,146 (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
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'- TCTGCATTCACTCCAGGGAG -3'
(R):5'- GAGGGACCACTTAAAATTACAGCAC -3'

Sequencing Primer
(F):5'- AGGGCAAGTTCAAGGCTTTTAGTAC -3'
(R):5'- TGTAGAACATTCAGAGGATGGAC -3'

Posted On

2017-06-26