Incidental Mutation 'IGL03303:Olfr1262'
ID416286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1262
Ensembl Gene ENSMUSG00000051313
Gene Nameolfactory receptor 1262
SynonymsGA_x6K02T2Q125-51434523-51435437, MOR234-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03303
Quality Score
Status
Chromosome2
Chromosomal Location90000145-90008291 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 90002466 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 20 (K20I)
Ref Sequence ENSEMBL: ENSMUSP00000121666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061701] [ENSMUST00000111508] [ENSMUST00000131072] [ENSMUST00000213868]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061701
AA Change: K20I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052387
Gene: ENSMUSG00000051313
AA Change: K20I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 30 297 1.2e-5 PFAM
Pfam:7tm_1 36 282 9.9e-24 PFAM
Pfam:7tm_4 134 275 1.3e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111508
AA Change: K20I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107133
Gene: ENSMUSG00000051313
AA Change: K20I

DomainStartEndE-ValueType
Pfam:7tm_4 25 300 6.1e-43 PFAM
Pfam:7TM_GPCR_Srsx 30 297 1.2e-5 PFAM
Pfam:7tm_1 36 282 7.1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131072
AA Change: K20I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121666
Gene: ENSMUSG00000051313
AA Change: K20I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 30 171 1.7e-8 PFAM
Pfam:7tm_1 36 238 3.2e-22 PFAM
Pfam:7tm_4 134 240 5e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213868
AA Change: K20I

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,870,077 E17G possibly damaging Het
A2m T A 6: 121,667,163 V940E probably damaging Het
Agap1 T A 1: 89,665,152 V307D probably damaging Het
Amd1 A G 10: 40,290,125 V286A possibly damaging Het
Chrne T C 11: 70,615,100 K453R possibly damaging Het
Ckm T A 7: 19,414,338 probably benign Het
Ckmt1 A G 2: 121,360,005 T138A probably benign Het
Cldn4 A G 5: 134,946,249 V166A possibly damaging Het
Dclre1a T C 19: 56,546,766 T129A possibly damaging Het
Dlgap2 T A 8: 14,727,812 D352E probably damaging Het
Dnmt1 A G 9: 20,926,710 I236T probably benign Het
Enam G T 5: 88,504,591 V1320L probably benign Het
Ezh1 A C 11: 101,195,671 probably null Het
F13b A T 1: 139,513,036 D410V possibly damaging Het
Fcrl6 A T 1: 172,597,688 Y259N probably damaging Het
Fpr-rs7 A T 17: 20,113,739 F163Y possibly damaging Het
Gpihbp1 C T 15: 75,597,978 Q181* probably null Het
Htr2b T C 1: 86,099,339 probably benign Het
Igkv1-35 A G 6: 70,011,651 I8T probably benign Het
Kcnq2 T C 2: 181,082,389 T584A probably benign Het
Khdrbs3 A G 15: 69,024,823 T111A probably benign Het
Krtap29-1 A T 11: 99,978,843 C71S probably benign Het
Lrrc4c A T 2: 97,629,592 I188F probably damaging Het
Med1 G T 11: 98,158,352 N539K probably damaging Het
Mga T A 2: 119,903,452 D260E probably damaging Het
Mnd1 A G 3: 84,104,937 I155T probably benign Het
Msrb3 T C 10: 120,784,141 D91G probably benign Het
Mycbp2 A T 14: 103,247,758 D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 probably benign Het
Nrsn2 T C 2: 152,374,211 D24G possibly damaging Het
Osmr T A 15: 6,842,808 R268S probably benign Het
Pelo C A 13: 115,088,661 V343L probably damaging Het
Rp1 T A 1: 4,344,817 N2024I probably damaging Het
Rps6ka2 C T 17: 7,228,012 Q33* probably null Het
Slfn2 G A 11: 83,069,467 V91I possibly damaging Het
Socs6 G T 18: 88,869,744 A349E probably damaging Het
Syt2 A G 1: 134,741,911 N97D probably benign Het
Tas2r123 T A 6: 132,847,438 H99Q probably damaging Het
Tmc3 A G 7: 83,590,725 probably benign Het
Ube2s A T 7: 4,810,477 V35D probably damaging Het
Usp32 A T 11: 85,022,832 V891D probably damaging Het
Vmn1r169 A T 7: 23,578,009 E275D probably benign Het
Vps13c A G 9: 67,934,504 H1936R probably benign Het
Wrap73 C A 4: 154,146,543 A92E probably damaging Het
Zfhx4 C T 3: 5,403,350 T2856M probably damaging Het
Zmym1 A T 4: 127,049,134 I487N probably damaging Het
Other mutations in Olfr1262
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Olfr1262 APN 2 90003021 missense possibly damaging 0.65
R1216:Olfr1262 UTSW 2 90002478 missense probably benign 0.23
R1256:Olfr1262 UTSW 2 90002567 missense possibly damaging 0.61
R1860:Olfr1262 UTSW 2 90003146 missense probably benign 0.26
R1864:Olfr1262 UTSW 2 90002481 missense probably benign 0.02
R1918:Olfr1262 UTSW 2 90002574 missense probably benign 0.12
R2192:Olfr1262 UTSW 2 90002430 missense probably damaging 0.99
R3024:Olfr1262 UTSW 2 90003240 missense probably damaging 1.00
R4155:Olfr1262 UTSW 2 90002660 missense probably benign 0.35
R4956:Olfr1262 UTSW 2 90002843 missense probably benign 0.33
R5298:Olfr1262 UTSW 2 90002460 missense possibly damaging 0.92
R5804:Olfr1262 UTSW 2 90002988 missense possibly damaging 0.91
R6766:Olfr1262 UTSW 2 90002532 missense probably benign 0.06
R7674:Olfr1262 UTSW 2 90003045 missense probably damaging 0.99
Z1176:Olfr1262 UTSW 2 90003048 missense probably damaging 0.97
Posted On2016-08-02