Mutagenetix > Incidental Mutations

Incidental Mutation 'R3434:Olfr1131'

266328

Institutional Source

Beutler Lab

Gene Symbol

Olfr1131

Ensembl Gene

ENSMUSG00000068819

Gene Name

olfactory receptor 1131

Synonyms

GA_x6K02T2Q125-49133664-49134593, MOR177-4

MMRRC Submission

040652-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87627104-87630203 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87629074 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 204 (F204L)

Ref Sequence

ENSEMBL: ENSMUSP00000150754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090712] [ENSMUST00000213302] [ENSMUST00000216082] [ENSMUST00000216756]

Predicted Effect

probably benign
Transcript: ENSMUST00000090712
AA Change: F204L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000088214
Gene: ENSMUSG00000068819
AA Change: F204L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.2e-47	PFAM
Pfam:7tm_1	40	289	1.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213302
AA Change: F204L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216082

Predicted Effect

probably benign
Transcript: ENSMUST00000216756
AA Change: F88L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.1465

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,289,537	A1008V	probably damaging	Het
Adora3	A	G	3: 105,904,915	K39R	probably benign	Het
Ankib1	A	G	5: 3,692,760	V1085A	probably damaging	Het
Atp7a	G	A	X: 106,094,857	R563K	probably benign	Het
Azin1	T	C	15: 38,493,576	I268V	probably benign	Het
Carm1	T	C	9: 21,569,473	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,579,861	Y152C	probably damaging	Het
Chrna3	T	A	9: 55,024,326	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,808,761		probably benign	Het
Clstn2	T	A	9: 97,454,715	D903V	probably benign	Het
Dpysl3	C	T	18: 43,361,061	V70I	probably benign	Het
Drg2	A	T	11: 60,461,392	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236	H3659Q	probably benign	Het
Dysf	A	T	6: 84,070,888	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865	N533D	probably benign	Het
Fam47e	T	A	5: 92,585,362	V152D	probably damaging	Het
Fasn	G	A	11: 120,822,773	A24V	probably damaging	Het
Fhl4	T	C	10: 85,098,444	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,428,161	M358K	probably benign	Het
Ift74	A	G	4: 94,621,852		probably null	Het
Lhx4	A	G	1: 155,702,401	Y332H	probably damaging	Het
Mast2	A	T	4: 116,308,095	S1314T	probably benign	Het
Mast4	A	G	13: 102,787,379	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726		probably null	Het
Mrps23	A	G	11: 88,210,114	K44E	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116		probably null	Het
Notch3	A	T	17: 32,158,618	D161E	possibly damaging	Het
Olfr1200	T	C	2: 88,768,069	D82G	probably damaging	Het
Olfr695	A	T	7: 106,873,769	Y159N	probably benign	Het
P2rx4	T	A	5: 122,725,070	I202K	probably damaging	Het
Phykpl	A	G	11: 51,598,655	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,112,234	A1047T	probably damaging	Het
Ppat	A	G	5: 76,918,065	I402T	probably damaging	Het
Rpgr	A	G	X: 10,176,602	S656P	probably benign	Het
Rsbn1l	T	C	5: 20,905,930		probably benign	Het
Sacs	A	G	14: 61,212,303	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,675,503	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,117,090	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,725,077	T277N	possibly damaging	Het
Slc35a5	A	G	16: 45,144,033	I279T	probably benign	Het
Slc39a10	T	C	1: 46,835,717	T142A	probably benign	Het
Tle3	T	A	9: 61,414,094		probably null	Het
Tmem117	T	C	15: 95,094,692	I411T	probably damaging	Het
Ttn	T	C	2: 76,868,377	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,658,381		probably null	Het
Ush2a	C	T	1: 188,733,758	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,806,097	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,110,108		probably benign	Het

Other mutations in Olfr1131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Olfr1131	APN	2	87628629	missense	probably benign	0.03
IGL02186:Olfr1131	APN	2	87629371	missense	probably benign	0.00
R0266:Olfr1131	UTSW	2	87629282	missense	possibly damaging	0.79
R0849:Olfr1131	UTSW	2	87629282	missense	possibly damaging	0.79
R1607:Olfr1131	UTSW	2	87628977	missense	probably benign	0.14
R2077:Olfr1131	UTSW	2	87628829	missense	probably damaging	1.00
R2105:Olfr1131	UTSW	2	87628939	missense	probably benign	0.20
R2322:Olfr1131	UTSW	2	87628774	missense	possibly damaging	0.86
R4357:Olfr1131	UTSW	2	87628466	start codon destroyed	probably null	1.00
R5139:Olfr1131	UTSW	2	87628656	missense	probably benign	0.03
R5333:Olfr1131	UTSW	2	87629114	missense	probably damaging	0.97
R5719:Olfr1131	UTSW	2	87629131	splice site	probably null
R6449:Olfr1131	UTSW	2	87629149	missense	possibly damaging	0.63
R7640:Olfr1131	UTSW	2	87629092	missense	probably benign	0.01
R7941:Olfr1131	UTSW	2	87628904	missense	probably benign	0.06
R8110:Olfr1131	UTSW	2	87628607	missense	possibly damaging	0.75
R8393:Olfr1131	UTSW	2	87628853	missense	probably damaging	0.97
X0027:Olfr1131	UTSW	2	87629303	missense	possibly damaging	0.96
Z1176:Olfr1131	UTSW	2	87629315	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTTACCTGGTGGGAACATC -3'
(R):5'- AGTGGGTTCAGCATAGGAATC -3'

Sequencing Primer
(F):5'- GTGGGAACATCAGATGCTTTGATAC -3'
(R):5'- TGGGTTCAGCATAGGAATCACAAG -3'

Posted On

2015-02-18