Mutagenetix > Incidental Mutations

Incidental Mutation 'R1697:Olfr190'

192361

Institutional Source

Beutler Lab

Gene Symbol

Olfr190

Ensembl Gene

ENSMUSG00000064006

Gene Name

olfactory receptor 190

Synonyms

MOR183-4, GA_x54KRFPKG5P-55303207-55302284

MMRRC Submission

039730-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59067140-59078005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59074907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 58 (Y58H)

Ref Sequence

ENSEMBL: ENSMUSP00000148991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071243] [ENSMUST00000206214] [ENSMUST00000215687] [ENSMUST00000216495]

AlphaFold

K7N5T5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071243
AA Change: Y58H

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

SMART Domains

Protein: ENSMUSP00000071224
Gene: ENSMUSG00000064006
AA Change: Y58H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.1e-46	PFAM
Pfam:7tm_1	39	288	2.8e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206214
AA Change: Y58H

Predicted Effect

probably damaging
Transcript: ENSMUST00000215687
AA Change: Y58H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216495
AA Change: Y58H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

Other mutations in Olfr190

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Olfr190	APN	16	59074689	nonsense	probably null
IGL01011:Olfr190	APN	16	59074430	missense	probably benign	0.10
IGL01453:Olfr190	APN	16	59074769	missense	probably benign	0.00
IGL01978:Olfr190	APN	16	59074267	missense	probably benign	0.33
IGL02348:Olfr190	APN	16	59074949	missense	probably damaging	0.99
IGL02423:Olfr190	APN	16	59074267	missense	probably benign	0.33
IGL02628:Olfr190	APN	16	59074792	missense	probably benign	0.01
R0220:Olfr190	UTSW	16	59074732	missense	probably damaging	1.00
R0471:Olfr190	UTSW	16	59074270	missense	probably benign	0.01
R3009:Olfr190	UTSW	16	59074987	missense	probably benign	0.01
R3011:Olfr190	UTSW	16	59074987	missense	probably benign	0.01
R3027:Olfr190	UTSW	16	59074967	missense	probably benign	0.00
R4080:Olfr190	UTSW	16	59074256	missense	probably damaging	0.96
R4482:Olfr190	UTSW	16	59074923	missense	probably benign	0.02
R4895:Olfr190	UTSW	16	59074657	missense	probably benign	0.09
R5409:Olfr190	UTSW	16	59074196	missense	possibly damaging	0.94
R5825:Olfr190	UTSW	16	59074661	missense	probably benign	0.01
R6146:Olfr190	UTSW	16	59074714	missense	probably benign	0.05
R6249:Olfr190	UTSW	16	59074432	missense	probably damaging	1.00
R6996:Olfr190	UTSW	16	59074192	missense	probably benign	0.00
R7283:Olfr190	UTSW	16	59074192	missense	probably benign
R7707:Olfr190	UTSW	16	59074271	missense	possibly damaging	0.52
R8381:Olfr190	UTSW	16	59074862	missense	probably damaging	1.00
R8507:Olfr190	UTSW	16	59074880	missense	possibly damaging	0.81
R8887:Olfr190	UTSW	16	59074483	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCACCACAGGTAGAGAAAGCCTTC -3'
(R):5'- AGAGTTTGTGCTTACAGGGCTCAC -3'

Sequencing Primer
(F):5'- TAGCGATCATATGCCATAGCTC -3'
(R):5'- TTACAGGGCTCACAGAGTCTC -3'

Posted On

2014-05-14