Mutagenetix > Incidental Mutations

Incidental Mutation 'R4999:Olfr191'

389773

Institutional Source

Beutler Lab

Gene Symbol

Olfr191

Ensembl Gene

ENSMUSG00000094539

Gene Name

olfactory receptor 191

Synonyms

GA_x54KRFPKG5P-55314632-55313703, MOR183-5P

MMRRC Submission

042593-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59082829-59089822 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59086402 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 27 (L27Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078517] [ENSMUST00000205471] [ENSMUST00000215647]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078517
AA Change: L27Q

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

SMART Domains

Protein: ENSMUSP00000077604
Gene: ENSMUSG00000094539
AA Change: L27Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4e-47	PFAM
Pfam:7tm_1	41	290	6.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205471
AA Change: L27Q

Predicted Effect

probably damaging
Transcript: ENSMUST00000215647
AA Change: L27Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,068,798		probably null	Het
Abca4	T	A	3: 122,105,370	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507	I224V	probably damaging	Het
Arel1	C	T	12: 84,931,767	V364M	probably damaging	Het
Arhgap42	A	G	9: 9,009,434	V484A	probably damaging	Het
Asap2	T	C	12: 21,252,765	F681L	probably benign	Het
Atrn	C	A	2: 130,975,954	D809E	probably damaging	Het
BC037034	T	A	5: 138,261,622	T391S	probably damaging	Het
Ccdc70	G	A	8: 21,973,250	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,730,012	E73*	probably null	Het
Cfap57	A	C	4: 118,595,848	S553A	probably benign	Het
Cftr	A	G	6: 18,221,614	K212E	probably benign	Het
Chkb	A	T	15: 89,428,165	Y216N	probably damaging	Het
Cntnap2	G	T	6: 45,920,834	D149Y	probably damaging	Het
Cpd	A	G	11: 76,846,222		probably null	Het
Creb3l1	C	T	2: 91,983,226	D489N	probably benign	Het
Crhbp	A	G	13: 95,442,245	F123L	probably damaging	Het
Cryab	T	C	9: 50,754,609	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,521,930	I2684T	probably benign	Het
Ctbp2	G	T	7: 133,014,649	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,915,762	N814S	possibly damaging	Het
Dntt	T	C	19: 41,039,856	V197A	probably damaging	Het
Fam135a	G	A	1: 24,020,677	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,570,415	Q455H	probably benign	Het
Grm2	T	C	9: 106,653,990	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,217,464	V855M	probably damaging	Het
Heatr9	A	T	11: 83,518,792	I118N	possibly damaging	Het
Htra3	T	C	5: 35,671,125	H137R	probably benign	Het
Iars	A	G	13: 49,709,661	S530G	probably damaging	Het
Klhdc4	T	A	8: 121,796,603	M510L	probably benign	Het
Lipc	T	C	9: 70,816,731	T204A	probably benign	Het
Lrp1	A	G	10: 127,553,779	V3129A	probably damaging	Het
Macf1	G	A	4: 123,494,909	T1120I	probably benign	Het
Map4	T	C	9: 110,038,377		probably benign	Het
Mbtps1	A	T	8: 119,533,348	V420D	probably damaging	Het
Mta2	G	T	19: 8,950,383	D523Y	probably benign	Het
Muc4	A	G	16: 32,756,296		probably benign	Het
Mug1	C	T	6: 121,878,943	Q965*	probably null	Het
Myo1e	T	A	9: 70,353,312	I584N	probably damaging	Het
Nolc1	T	C	19: 46,078,920	V80A	probably damaging	Het
Nop56	G	T	2: 130,275,725	V91L	probably benign	Het
Olfr1451	A	T	19: 12,999,219	M78L	probably benign	Het
Olfr523	T	C	7: 140,177,020	V300A	probably damaging	Het
Osbpl3	T	C	6: 50,336,297	E107G	probably damaging	Het
Pde3a	T	A	6: 141,250,025	C146S	probably benign	Het
Pfkm	A	G	15: 98,128,242	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,047,374		probably null	Het
Plekhg3	T	C	12: 76,565,247	I374T	possibly damaging	Het
Ppig	T	A	2: 69,741,486	V183D	unknown	Het
Prom1	T	G	5: 44,037,534	I290L	probably benign	Het
Rufy3	T	A	5: 88,637,226	M387K	probably damaging	Het
Selenoo	G	A	15: 89,094,184	R270H	probably damaging	Het
Sema3d	T	A	5: 12,508,087		probably null	Het
Sema6c	C	T	3: 95,168,363	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,341,046	I179T	probably damaging	Het
Sf3b3	T	C	8: 110,841,203	T207A	probably benign	Het
Slc22a26	C	A	19: 7,802,181	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,680,216	V424A	probably damaging	Het
Smarca2	G	T	19: 26,720,855	E89*	probably null	Het
Soga1	C	T	2: 157,022,856	G1144D	probably benign	Het
Stab2	T	A	10: 86,937,909	S853C	probably damaging	Het
Stk17b	A	T	1: 53,761,147		probably null	Het
Taar5	T	A	10: 23,971,547	I281N	possibly damaging	Het
Tarsl2	A	T	7: 65,658,935	E284D	probably damaging	Het
Tbx15	C	A	3: 99,316,333	T279K	probably damaging	Het
Tfr2	G	A	5: 137,586,925	V740I	probably benign	Het
Tlr12	T	C	4: 128,617,680	E259G	probably benign	Het
Tmem145	A	G	7: 25,309,034	T302A	probably benign	Het
Tmem57	A	G	4: 134,828,133	I343T	probably benign	Het
Trpa1	G	T	1: 14,875,861	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,817,629	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,894,469	N44S	probably damaging	Het
Uba7	T	C	9: 107,979,839		probably null	Het
Ube2j2	G	A	4: 155,946,384	M1I	probably null	Het
Ubr5	C	A	15: 38,009,668	A1022S	probably benign	Het
Usf1	T	G	1: 171,415,763	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,984,365	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,670,373	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,362,135	M1V	probably null	Het
Vsig10	T	A	5: 117,343,975	V410E	probably damaging	Het
Zc3h7b	A	G	15: 81,779,133	Y442C	probably damaging	Het
Zfyve26	G	T	12: 79,280,385	Y730*	probably null	Het

Other mutations in Olfr191

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Olfr191	APN	16	59086393	missense	possibly damaging	0.86
IGL01553:Olfr191	APN	16	59086322	missense	probably benign	0.35
R0233:Olfr191	UTSW	16	59085675	missense	probably benign	0.01
R0233:Olfr191	UTSW	16	59085675	missense	probably benign	0.01
R1367:Olfr191	UTSW	16	59086343	missense	probably benign	0.00
R1631:Olfr191	UTSW	16	59086045	missense	probably benign
R1660:Olfr191	UTSW	16	59086343	missense	probably benign	0.00
R2166:Olfr191	UTSW	16	59085586	missense	probably benign	0.07
R2167:Olfr191	UTSW	16	59085586	missense	probably benign	0.07
R2168:Olfr191	UTSW	16	59085586	missense	probably benign	0.07
R2191:Olfr191	UTSW	16	59085675	missense	probably benign	0.01
R3836:Olfr191	UTSW	16	59086223	missense	possibly damaging	0.61
R5386:Olfr191	UTSW	16	59085890	missense	probably benign
R5589:Olfr191	UTSW	16	59085971	missense	probably benign	0.03
R5590:Olfr191	UTSW	16	59085997	missense	probably benign	0.06
R5609:Olfr191	UTSW	16	59086076	missense	possibly damaging	0.96
R5965:Olfr191	UTSW	16	59086303	missense	probably damaging	1.00
R5989:Olfr191	UTSW	16	59086334	missense	probably benign	0.00
R6049:Olfr191	UTSW	16	59086146	nonsense	probably null
R6058:Olfr191	UTSW	16	59085910	missense	probably damaging	0.99
R6058:Olfr191	UTSW	16	59086429	missense	probably benign
R6250:Olfr191	UTSW	16	59085832	missense	probably damaging	1.00
R6319:Olfr191	UTSW	16	59086021	missense	probably benign	0.08
R6473:Olfr191	UTSW	16	59086043	missense	probably benign	0.09
R6524:Olfr191	UTSW	16	59086277	missense	possibly damaging	0.76
R6748:Olfr191	UTSW	16	59085890	missense	probably benign
R6874:Olfr191	UTSW	16	59085949	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATTCCGTGGTTGCACTCACTAC -3'
(R):5'- GGCCAACCTGATAACTACAGAG -3'

Sequencing Primer
(F):5'- CGTGGTTGCACTCACTACAAATG -3'
(R):5'- GCCAACCTGATAACTACAGAGTTGTG -3'

Posted On

2016-06-06