Mutagenetix > Incidental Mutations

Incidental Mutation 'R0497:Olfr1281'

40513

Institutional Source

Beutler Lab

Gene Symbol

Olfr1281

Ensembl Gene

ENSMUSG00000095156

Gene Name

olfactory receptor 1281

Synonyms

GA_x6K02T2Q125-72379864-72380781, MOR248-18, MOR248-14P

MMRRC Submission

038693-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111326520-111332852 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111328830 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 137 (D137G)

Ref Sequence

ENSEMBL: ENSMUSP00000151304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090326] [ENSMUST00000208176] [ENSMUST00000213551]

Predicted Effect

probably benign
Transcript: ENSMUST00000090326
AA Change: D137G

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

SMART Domains

Protein: ENSMUSP00000087798
Gene: ENSMUSG00000095156
AA Change: D137G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.8e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	301	2.6e-6	PFAM
Pfam:7tm_1	41	287	4.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208176
AA Change: D137G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213551

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,147,465	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
C2cd5	A	G	6: 143,012,093	V972A	probably benign	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Chp1	A	G	2: 119,571,782	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,498,355	I335N	probably damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dennd1b	A	G	1: 139,039,986		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966		probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Slc22a16	T	G	10: 40,584,967	M255R	probably damaging	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zfp644	A	T	5: 106,638,333	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Zhx3	A	T	2: 160,779,994	L751*	probably null	Het
Znfx1	T	A	2: 167,055,411	Q531L	probably benign	Het

Other mutations in Olfr1281

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02426:Olfr1281	APN	2	111328575	missense	probably damaging	1.00
IGL02550:Olfr1281	APN	2	111328500	missense	probably damaging	1.00
IGL02553:Olfr1281	APN	2	111328988	missense	probably benign
IGL02719:Olfr1281	APN	2	111329245	nonsense	probably null
IGL02750:Olfr1281	APN	2	111329288	missense	probably damaging	1.00
IGL02873:Olfr1281	APN	2	111328872	missense	probably benign
IGL03252:Olfr1281	APN	2	111328780	nonsense	probably null
IGL03375:Olfr1281	APN	2	111328884	missense	probably damaging	1.00
R0055:Olfr1281	UTSW	2	111328525	nonsense	probably null
R0368:Olfr1281	UTSW	2	111328787	missense	probably damaging	0.99
R0505:Olfr1281	UTSW	2	111329328	missense	probably benign	0.00
R1557:Olfr1281	UTSW	2	111328619	missense	probably damaging	1.00
R1619:Olfr1281	UTSW	2	111328961	missense	probably benign	0.02
R1691:Olfr1281	UTSW	2	111328853	missense	probably benign	0.03
R2286:Olfr1281	UTSW	2	111328907	missense	probably benign	0.01
R4230:Olfr1281	UTSW	2	111329130	missense	probably damaging	1.00
R4274:Olfr1281	UTSW	2	111328815	missense	probably damaging	0.98
R4305:Olfr1281	UTSW	2	111329298	missense	probably null	0.82
R4495:Olfr1281	UTSW	2	111329020	missense	probably benign	0.08
R5307:Olfr1281	UTSW	2	111328396	splice site	probably null
R6115:Olfr1281	UTSW	2	111329213	missense	probably benign	0.03
R6615:Olfr1281	UTSW	2	111329112	missense	probably benign	0.00
R7169:Olfr1281	UTSW	2	111328598	missense	probably damaging	1.00
R7601:Olfr1281	UTSW	2	111329220	missense	probably benign	0.12
R8267:Olfr1281	UTSW	2	111328815	missense	probably benign	0.22
R8447:Olfr1281	UTSW	2	111328962	missense	possibly damaging	0.81
Z1177:Olfr1281	UTSW	2	111328825	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGGGACTGTGTACCTCAAGGCAAC -3'
(R):5'- TCCACCCAAGTGATGTTTACTGGC -3'

Sequencing Primer
(F):5'- ttctcttattaccattttctgtcctc -3'
(R):5'- GCCACTGTCAGCATTTATTAGG -3'

Posted On

2013-05-23