Mutagenetix > Incidental Mutations

Incidental Mutation 'R5719:Olfr1131'

451330

Institutional Source

Beutler Lab

Gene Symbol

Olfr1131

Ensembl Gene

ENSMUSG00000068819

Gene Name

olfactory receptor 1131

Synonyms

GA_x6K02T2Q125-49133664-49134593, MOR177-4

MMRRC Submission

043339-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87627104-87630203 bp(+) (GRCm38)

Type of Mutation

splice site (3452 bp from exon)

DNA Base Change (assembly)

T to C at 87629131 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149683 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000090712
AA Change: S223P

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088214
Gene: ENSMUSG00000068819
AA Change: S223P

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: S223P

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably null
Transcript: ENSMUST00000216082

Predicted Effect

probably benign
Transcript: ENSMUST00000216756
AA Change: S107P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.7093

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (79/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,273,245	H1137Q	probably damaging	Het
A130051J06Rik	C	T	15: 95,790,760		probably benign	Het
A630001G21Rik	T	A	1: 85,723,385	R110W	probably benign	Het
Abca4	T	C	3: 122,135,266		probably null	Het
Abcc3	T	C	11: 94,351,068	N1379S	probably damaging	Het
Actrt3	A	C	3: 30,598,127	F273V	probably benign	Het
Adam22	T	C	5: 8,367,217	D75G	probably benign	Het
Armc4	G	T	18: 7,211,496	Q793K	probably benign	Het
Ash1l	C	A	3: 89,054,498	D2392E	possibly damaging	Het
Ash1l	T	C	3: 89,058,626	I2445T	probably damaging	Het
Cacna2d2	A	G	9: 107,524,652	I762V	probably benign	Het
Ccdc127	T	A	13: 74,357,068		probably benign	Het
Ccdc91	C	G	6: 147,575,503	L230V	unknown	Het
Cdk13	A	G	13: 17,719,655	I1129T	probably damaging	Het
Cnot1	C	T	8: 95,744,296	R1308H	possibly damaging	Het
Crhr2	T	C	6: 55,103,222	H144R	probably damaging	Het
Dnmt1	T	C	9: 20,912,595	N993S	possibly damaging	Het
Eif4g1	T	A	16: 20,689,011	V1182D	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fam234a	T	A	17: 26,214,653	Q399L	possibly damaging	Het
Fyb	A	T	15: 6,580,869	K308*	probably null	Het
Gfral	C	T	9: 76,197,046	R228Q	probably benign	Het
Gm10309	A	T	17: 86,498,993		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm5501	G	A	18: 9,917,417		noncoding transcript	Het
Gm6309	A	T	5: 146,168,182	V307D	probably benign	Het
Gm9871	T	A	6: 101,796,187		noncoding transcript	Het
Greb1l	G	A	18: 10,542,427	E1341K	probably damaging	Het
Herc3	T	A	6: 58,894,543	V70E	possibly damaging	Het
Hes7	A	G	11: 69,121,589	E41G	probably damaging	Het
Ifi27l2b	T	C	12: 103,455,787	D106G	unknown	Het
Igfbp6	A	T	15: 102,148,181	Y184F	probably damaging	Het
Isyna1	A	G	8: 70,594,702	Y25C	probably damaging	Het
Kcng3	G	T	17: 83,631,134	T162K	possibly damaging	Het
Krt36	T	C	11: 100,104,161	D195G	possibly damaging	Het
Lrwd1	A	T	5: 136,132,239		probably null	Het
Lsg1	C	T	16: 30,561,775	A615T	probably benign	Het
Myo5a	A	T	9: 75,151,931	E480D	probably damaging	Het
Myrf	T	A	19: 10,216,723	D690V	probably damaging	Het
N4bp1	T	C	8: 86,851,684	I684M	probably damaging	Het
Nlrc3	C	T	16: 3,963,725	A607T	probably damaging	Het
Nuak1	A	T	10: 84,409,720	I87N	probably damaging	Het
Olfr490	T	G	7: 108,286,392	T245P	probably damaging	Het
Olfr878	A	T	9: 37,919,351	E236D	probably damaging	Het
Osbpl9	T	A	4: 109,062,566	R689*	probably null	Het
Ppargc1b	T	A	18: 61,307,568	M744L	probably benign	Het
Prss40	A	T	1: 34,552,517		probably benign	Het
Ptprd	T	A	4: 76,054,602		probably null	Het
Rft1	T	C	14: 30,663,226		probably benign	Het
Rftn2	C	T	1: 55,214,286	V53I	probably damaging	Het
Rnaset2a	T	C	17: 8,132,047	Y167C	probably damaging	Het
Schip1	T	C	3: 68,408,227		probably benign	Het
Scn5a	A	C	9: 119,530,052	L643R	possibly damaging	Het
Shroom3	T	A	5: 92,943,018	M1128K	probably benign	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc14a2	A	G	18: 78,209,042	L18P	probably benign	Het
Slc22a3	C	T	17: 12,423,804	V509M	probably damaging	Het
Slc7a5	A	C	8: 121,883,642	F478V	probably benign	Het
Smc1b	T	A	15: 85,096,658	N803I	probably benign	Het
Snf8	T	A	11: 96,041,725	N115K	probably damaging	Het
Stox2	T	A	8: 47,413,137	K57*	probably null	Het
Tmem248	T	A	5: 130,229,588	F41I	probably damaging	Het
Tmprss7	T	C	16: 45,686,430	S90G	probably damaging	Het
Top3b	T	C	16: 16,885,836	V285A	probably damaging	Het
Tsen15	T	C	1: 152,371,783	T153A	probably damaging	Het
Usp34	T	G	11: 23,354,846	S360A	probably benign	Het
Wdr24	T	C	17: 25,828,340		probably null	Het
Zbtb2	G	A	10: 4,369,456	T190I	probably benign	Het
Zranb3	T	C	1: 127,963,876	S788G	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
R3434:Olfr1131	UTSW	2	87629074	missense	probably benign	0.02
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
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'- GTGGGAACATCAGATGCTTTG -3'
(R):5'- GTGGGTTCAGCATAGGAATCAC -3'

Sequencing Primer
(F):5'- GATACATACAACTTTGGCATTCCGC -3'
(R):5'- TTCAGCATAGGAATCACAAGGG -3'

Posted On

2017-01-03