Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Olfr791'

372822

Institutional Source

Beutler Lab

Gene Symbol

Olfr791

Ensembl Gene

ENSMUSG00000047626

Gene Name

olfactory receptor 791

Synonyms

GA_x6K02T2PULF-11205096-11206034, MOR114-1

MMRRC Submission

042447-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129521792-129528353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129526580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 118 (Y118N)

Ref Sequence

ENSEMBL: ENSMUSP00000150497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057477] [ENSMUST00000217228]

AlphaFold

Q8VGJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000057477
AA Change: Y118N

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

SMART Domains

Protein: ENSMUSP00000052722
Gene: ENSMUSG00000047626
AA Change: Y118N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	7.6e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	303	4.3e-6	PFAM
Pfam:7tm_1	39	288	4.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217228
AA Change: Y118N

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

Meta Mutation Damage Score

0.3557

Coding Region Coverage

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

Validation Efficiency

99% (96/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,900,577	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,607,647		noncoding transcript	Het
Abca13	A	T	11: 9,542,077	K4373*	probably null	Het
Abtb2	A	T	2: 103,683,475	T410S	probably benign	Het
Adamts13	T	C	2: 26,983,130		probably null	Het
Ahnak2	C	G	12: 112,775,749	D630H	probably damaging	Het
Aox3	T	C	1: 58,152,566	S426P	probably damaging	Het
Armc4	G	T	18: 7,222,564	H568Q	possibly damaging	Het
Atxn10	C	T	15: 85,387,059	S266F	probably benign	Het
B4galnt4	T	A	7: 141,064,557		probably null	Het
B4galnt4	G	T	7: 141,067,721	M407I	probably damaging	Het
Bclaf1	T	A	10: 20,322,126		probably benign	Het
C4b	C	T	17: 34,736,890		probably null	Het
Cdc42bpg	T	C	19: 6,311,335	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,578	T755S	probably benign	Het
Ceacam12	T	A	7: 18,077,380		probably null	Het
Cfap65	C	A	1: 74,917,295	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,985,832	I89V	probably benign	Het
Cfh	T	C	1: 140,086,387	D688G	probably benign	Het
Clip1	C	G	5: 123,583,601	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,915,496	Y309*	probably null	Het
Dcaf5	T	C	12: 80,339,084	E756G	probably benign	Het
Dctn1	A	T	6: 83,199,771	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,066,428	R682*	probably null	Het
Eml6	C	A	11: 29,777,052	E1319*	probably null	Het
Erap1	T	C	13: 74,690,647	I904T	probably damaging	Het
Eri1	A	T	8: 35,476,519	I207N	possibly damaging	Het
Farp1	G	A	14: 121,277,057	A933T	probably damaging	Het
Fcna	T	A	2: 25,625,341	Q210L	probably benign	Het
Fhad1	A	T	4: 141,916,067		probably null	Het
Fut8	T	G	12: 77,393,829	Y197D	probably damaging	Het
Garem1	G	A	18: 21,129,768	T663I	probably benign	Het
Gfm2	T	C	13: 97,165,038	S450P	probably damaging	Het
Gstk1	T	G	6: 42,246,004		probably benign	Het
Helz2	C	T	2: 181,237,417	A803T	probably damaging	Het
Igsf9	T	A	1: 172,491,888	I280N	probably damaging	Het
Klhl10	A	G	11: 100,445,843	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,461,563	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,499,679	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,793,640	E1051K	possibly damaging	Het
Mettl17	T	C	14: 51,884,983	F13S	probably benign	Het
Mettl24	C	A	10: 40,683,417	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,556,505	C61S	probably benign	Het
Mob4	T	G	1: 55,152,740	D204E	probably benign	Het
Mtus1	C	G	8: 41,083,152	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,450,419	F484I	possibly damaging	Het
Nsrp1	T	C	11: 77,050,618	N88S	probably benign	Het
Olfr117	T	A	17: 37,660,078	H85L	probably benign	Het
Olfr623	T	C	7: 103,660,471	T260A	probably benign	Het
Olfr975	C	T	9: 39,950,112	V220I	probably benign	Het
Parg	A	G	14: 32,202,451	N69S	probably benign	Het
Pcdh9	A	C	14: 93,887,941	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,520,562	L694F	probably damaging	Het
Pcnt	T	C	10: 76,412,501	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,868,435	G373D	probably benign	Het
Pea15a	A	G	1: 172,199,173	I89T	probably damaging	Het
Phc1	T	A	6: 122,337,005		probably benign	Het
Pikfyve	T	A	1: 65,196,741	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,108,130	D573E	probably damaging	Het
Pld5	A	G	1: 176,274,884		probably benign	Het
Plscr2	A	T	9: 92,291,077	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293	N315K	probably damaging	Het
Pnpla1	T	A	17: 28,878,544	M228K	probably benign	Het
Prim2	T	C	1: 33,670,136		probably benign	Het
Ralgapa2	A	G	2: 146,405,067		probably benign	Het
Rgs22	G	T	15: 36,050,148	H719N	probably benign	Het
Ror2	C	T	13: 53,118,844	D250N	probably damaging	Het
Saal1	A	G	7: 46,699,647	V281A	probably benign	Het
Selenof	A	T	3: 144,590,650	K94N	probably damaging	Het
Slamf9	T	A	1: 172,477,264	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699		probably null	Het
Slco1a5	A	G	6: 142,234,705	I657T	probably benign	Het
St3gal2	A	T	8: 110,957,848	H46L	probably benign	Het
Sucnr1	T	G	3: 60,086,648	M199R	probably damaging	Het
Taok1	T	A	11: 77,553,674	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,185,446	E298V	probably damaging	Het
Tll2	T	A	19: 41,130,512	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,553,489	F300Y	probably damaging	Het
Uba6	T	A	5: 86,131,338	I642L	probably benign	Het
Ubqln5	T	A	7: 104,129,622		probably benign	Het
Vmn1r27	A	T	6: 58,215,842	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,521,410	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,541,232	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,986,425	D380N	probably benign	Het
Vps13a	C	T	19: 16,677,992	V1891I	probably benign	Het
Wbp2	G	T	11: 116,080,637	Y147*	probably null	Het
Wdr46	T	A	17: 33,941,836	N191K	probably benign	Het
Wdr46	T	C	17: 33,949,399		probably benign	Het
Wnt2	A	C	6: 18,023,286	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,014,622	D100V	probably benign	Het
Xpo4	T	C	14: 57,590,102	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,212,319	V978D	probably damaging	Het

Other mutations in Olfr791

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Olfr791	APN	10	129526995	missense	probably damaging	0.97
IGL03034:Olfr791	APN	10	129526658	missense	probably benign
IGL03281:Olfr791	APN	10	129526403	missense	probably benign	0.31
R0555:Olfr791	UTSW	10	129526896	missense	possibly damaging	0.90
R1474:Olfr791	UTSW	10	129526955	missense	probably benign	0.03
R1638:Olfr791	UTSW	10	129526619	missense	probably benign	0.00
R1917:Olfr791	UTSW	10	129527049	missense	probably damaging	0.99
R1918:Olfr791	UTSW	10	129527049	missense	probably damaging	0.99
R1919:Olfr791	UTSW	10	129527049	missense	probably damaging	0.99
R2303:Olfr791	UTSW	10	129527049	missense	probably benign	0.10
R3113:Olfr791	UTSW	10	129527143	missense	probably benign	0.08
R3929:Olfr791	UTSW	10	129526231	start codon destroyed	probably null	1.00
R4704:Olfr791	UTSW	10	129526302	missense	possibly damaging	0.90
R5207:Olfr791	UTSW	10	129526904	missense	probably benign	0.08
R5313:Olfr791	UTSW	10	129527081	missense	probably damaging	1.00
R5644:Olfr791	UTSW	10	129527103	missense	probably damaging	1.00
R5661:Olfr791	UTSW	10	129526749	missense	probably benign	0.45
R5894:Olfr791	UTSW	10	129526488	missense	probably damaging	0.98
R6988:Olfr791	UTSW	10	129526673	missense	probably benign	0.02
R6996:Olfr791	UTSW	10	129526863	missense	probably damaging	1.00
R7380:Olfr791	UTSW	10	129526661	missense	probably benign
R7539:Olfr791	UTSW	10	129527105	nonsense	probably null
R7552:Olfr791	UTSW	10	129526560	missense	possibly damaging	0.95
R7635:Olfr791	UTSW	10	129526682	missense	probably benign	0.00
R8084:Olfr791	UTSW	10	129526940	missense	probably damaging	1.00
R8260:Olfr791	UTSW	10	129527088	missense	possibly damaging	0.55
R8755:Olfr791	UTSW	10	129526463	missense	possibly damaging	0.60
X0066:Olfr791	UTSW	10	129526745	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACGTTGGTGGATCCCCATC -3'
(R):5'- CTGCATCACAGCTGAAATGATC -3'

Sequencing Primer
(F):5'- GGTGGATCCCCATCTTAAAACAC -3'
(R):5'- TGATCAATGGCATTGGAGTCAC -3'

Posted On

2016-03-01