Incidental Mutation 'IGL01596:Olfr1286'
ID91928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1286
Ensembl Gene ENSMUSG00000096703
Gene Nameolfactory receptor 1286
SynonymsMOR248-21, GA_x6K02T2Q125-72472405-72471488
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01596
Quality Score
Status
Chromosome2
Chromosomal Location111417842-111423115 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111420892 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 20 (S20P)
Ref Sequence ENSEMBL: ENSMUSP00000148932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099617] [ENSMUST00000184954] [ENSMUST00000213210]
Predicted Effect probably benign
Transcript: ENSMUST00000099617
AA Change: S20P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097212
Gene: ENSMUSG00000096703
AA Change: S20P

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 3.4e-47 PFAM
Pfam:7TM_GPCR_Srsx 35 301 3.4e-7 PFAM
Pfam:7tm_1 41 287 1.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184954
AA Change: S20P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000144852
Gene: ENSMUSG00000096703
AA Change: S20P

DomainStartEndE-ValueType
Pfam:7tm_4 1 264 7.6e-38 PFAM
Pfam:7tm_1 5 251 7.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213210
AA Change: S20P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T C 3: 138,226,242 S206P probably damaging Het
Arhgef10 G T 8: 14,999,468 E869* probably null Het
C87436 T A 6: 86,446,219 D258E probably damaging Het
Casp8ap2 A G 4: 32,646,365 K1813E probably damaging Het
Cd209b T A 8: 3,918,744 D304V probably damaging Het
Chmp2b T C 16: 65,562,477 D11G probably benign Het
Comp A G 8: 70,378,635 N384S probably damaging Het
Dbnl A G 11: 5,798,279 Y336C probably damaging Het
Faf2 G T 13: 54,621,903 Q21H probably null Het
Fam117b A T 1: 59,952,971 K260* probably null Het
Gramd1b A G 9: 40,303,513 L379P probably damaging Het
Iars A G 13: 49,703,176 N302D probably benign Het
Kcnh6 C T 11: 106,026,746 T702I probably benign Het
Kdelr2 A G 5: 143,412,575 Y59C probably damaging Het
Mgam T C 6: 40,658,270 Y300H probably damaging Het
Olfr1508 C T 14: 52,463,365 V215M probably damaging Het
Olfr411 T C 11: 74,347,419 E55G possibly damaging Het
Pcdh17 T C 14: 84,448,192 W700R probably damaging Het
Pigq T G 17: 25,927,686 H615P possibly damaging Het
Pkhd1l1 T A 15: 44,529,410 S1714T possibly damaging Het
Polr1b G T 2: 129,110,126 R358I probably benign Het
Tmprss11a C A 5: 86,422,519 V194F probably damaging Het
Trhr T C 15: 44,229,312 I315T probably damaging Het
Ttc38 G A 15: 85,836,073 V79M possibly damaging Het
Ubr4 T A 4: 139,462,534 probably benign Het
Vmn2r45 T C 7: 8,483,273 T339A probably damaging Het
Vps53 A G 11: 76,063,037 F501S probably damaging Het
Other mutations in Olfr1286
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01953:Olfr1286 APN 2 111420312 missense probably benign 0.22
IGL02251:Olfr1286 APN 2 111420312 missense probably damaging 0.99
IGL02514:Olfr1286 APN 2 111420772 missense probably damaging 1.00
IGL02868:Olfr1286 APN 2 111420493 missense possibly damaging 0.55
PIT4403001:Olfr1286 UTSW 2 111420820 missense probably benign 0.00
R0630:Olfr1286 UTSW 2 111420846 missense probably damaging 1.00
R1442:Olfr1286 UTSW 2 111420093 missense probably damaging 1.00
R1712:Olfr1286 UTSW 2 111420658 missense probably benign 0.22
R2510:Olfr1286 UTSW 2 111420451 missense possibly damaging 0.74
R4399:Olfr1286 UTSW 2 111420799 missense probably benign 0.00
R4984:Olfr1286 UTSW 2 111420847 missense probably damaging 1.00
R5186:Olfr1286 UTSW 2 111420774 missense probably damaging 1.00
R6044:Olfr1286 UTSW 2 111420078 missense probably damaging 1.00
R6107:Olfr1286 UTSW 2 111420655 missense probably benign 0.01
R6372:Olfr1286 UTSW 2 111420802 missense probably benign 0.12
R7230:Olfr1286 UTSW 2 111420916 missense probably damaging 1.00
Posted On2013-12-09