Incidental Mutation 'IGL02971:Or2t49'
ID 365792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2t49
Ensembl Gene ENSMUSG00000058807
Gene Name olfactory receptor family 2 subfamily T member 49
Synonyms GA_x6K02T2NKPP-912840-913784, Olfr331, MOR275-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02971
Quality Score
Status
Chromosome 11
Chromosomal Location 58392424-58393398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58393211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 57 (L57P)
Ref Sequence ENSEMBL: ENSMUSP00000132693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081743] [ENSMUST00000170501]
AlphaFold Q5NC44
Predicted Effect probably damaging
Transcript: ENSMUST00000081743
AA Change: L63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080440
Gene: ENSMUSG00000058807
AA Change: L63P

DomainStartEndE-ValueType
Pfam:7tm_4 35 315 1e-42 PFAM
Pfam:7tm_1 45 299 1.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170501
AA Change: L57P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132693
Gene: ENSMUSG00000058807
AA Change: L57P

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:7tm_1 39 292 4.9e-28 PFAM
Pfam:7tm_4 141 285 3.6e-42 PFAM
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, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K probably benign Het
Other mutations in Or2t49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Or2t49 APN 11 58,393,020 (GRCm39) missense possibly damaging 0.89
IGL02458:Or2t49 APN 11 58,393,073 (GRCm39) missense probably benign 0.20
IGL03346:Or2t49 APN 11 58,392,581 (GRCm39) missense possibly damaging 0.76
R0416:Or2t49 UTSW 11 58,393,222 (GRCm39) missense unknown
R1547:Or2t49 UTSW 11 58,392,651 (GRCm39) missense probably damaging 1.00
R1697:Or2t49 UTSW 11 58,392,502 (GRCm39) missense probably damaging 1.00
R1717:Or2t49 UTSW 11 58,392,885 (GRCm39) missense probably benign 0.09
R1721:Or2t49 UTSW 11 58,392,765 (GRCm39) missense probably damaging 1.00
R2194:Or2t49 UTSW 11 58,392,468 (GRCm39) missense probably damaging 0.97
R3606:Or2t49 UTSW 11 58,392,957 (GRCm39) missense possibly damaging 0.49
R4457:Or2t49 UTSW 11 58,392,944 (GRCm39) missense probably damaging 1.00
R4766:Or2t49 UTSW 11 58,392,494 (GRCm39) missense probably damaging 1.00
R4858:Or2t49 UTSW 11 58,392,735 (GRCm39) missense probably damaging 1.00
R5475:Or2t49 UTSW 11 58,392,431 (GRCm39) missense probably benign 0.10
R5822:Or2t49 UTSW 11 58,392,464 (GRCm39) missense possibly damaging 0.61
R6337:Or2t49 UTSW 11 58,392,838 (GRCm39) nonsense probably null
R6416:Or2t49 UTSW 11 58,393,166 (GRCm39) missense probably damaging 1.00
R7101:Or2t49 UTSW 11 58,393,379 (GRCm39) missense probably benign 0.00
R7108:Or2t49 UTSW 11 58,393,380 (GRCm39) missense probably benign
R8327:Or2t49 UTSW 11 58,392,942 (GRCm39) missense probably benign
R9507:Or2t49 UTSW 11 58,392,576 (GRCm39) missense possibly damaging 0.87
RF035:Or2t49 UTSW 11 58,393,208 (GRCm39) small deletion probably benign
Z1186:Or2t49 UTSW 11 58,393,287 (GRCm39) missense probably benign 0.00
Z1186:Or2t49 UTSW 11 58,393,396 (GRCm39) start codon destroyed probably null 0.96
Z1186:Or2t49 UTSW 11 58,393,212 (GRCm39) small deletion probably benign
Z1186:Or2t49 UTSW 11 58,393,210 (GRCm39) small deletion probably benign
Z1187:Or2t49 UTSW 11 58,392,936 (GRCm39) missense probably benign 0.06
Z1187:Or2t49 UTSW 11 58,393,212 (GRCm39) small deletion probably benign
Z1187:Or2t49 UTSW 11 58,393,287 (GRCm39) missense probably benign 0.00
Z1187:Or2t49 UTSW 11 58,393,396 (GRCm39) start codon destroyed probably null 0.96
Z1187:Or2t49 UTSW 11 58,392,474 (GRCm39) missense probably benign
Z1187:Or2t49 UTSW 11 58,392,927 (GRCm39) missense probably benign
Z1188:Or2t49 UTSW 11 58,392,927 (GRCm39) missense probably benign
Z1188:Or2t49 UTSW 11 58,392,474 (GRCm39) missense probably benign
Z1188:Or2t49 UTSW 11 58,393,396 (GRCm39) start codon destroyed probably null 0.96
Z1188:Or2t49 UTSW 11 58,393,287 (GRCm39) missense probably benign 0.00
Z1188:Or2t49 UTSW 11 58,393,212 (GRCm39) small deletion probably benign
Z1188:Or2t49 UTSW 11 58,392,936 (GRCm39) missense probably benign 0.06
Z1189:Or2t49 UTSW 11 58,393,287 (GRCm39) missense probably benign 0.00
Z1189:Or2t49 UTSW 11 58,393,212 (GRCm39) small deletion probably benign
Z1189:Or2t49 UTSW 11 58,393,396 (GRCm39) start codon destroyed probably null 0.96
Z1190:Or2t49 UTSW 11 58,392,927 (GRCm39) missense probably benign
Z1190:Or2t49 UTSW 11 58,392,474 (GRCm39) missense probably benign
Z1190:Or2t49 UTSW 11 58,393,396 (GRCm39) start codon destroyed probably null 0.96
Z1190:Or2t49 UTSW 11 58,393,287 (GRCm39) missense probably benign 0.00
Z1190:Or2t49 UTSW 11 58,393,212 (GRCm39) small deletion probably benign
Z1190:Or2t49 UTSW 11 58,392,936 (GRCm39) missense probably benign 0.06
Z1191:Or2t49 UTSW 11 58,392,474 (GRCm39) missense probably benign
Z1191:Or2t49 UTSW 11 58,393,396 (GRCm39) start codon destroyed probably null 0.96
Z1191:Or2t49 UTSW 11 58,393,287 (GRCm39) missense probably benign 0.00
Z1191:Or2t49 UTSW 11 58,393,212 (GRCm39) small deletion probably benign
Z1191:Or2t49 UTSW 11 58,392,936 (GRCm39) missense probably benign 0.06
Z1191:Or2t49 UTSW 11 58,392,927 (GRCm39) missense probably benign
Z1192:Or2t49 UTSW 11 58,393,287 (GRCm39) missense probably benign 0.00
Z1192:Or2t49 UTSW 11 58,393,212 (GRCm39) small deletion probably benign
Z1192:Or2t49 UTSW 11 58,393,210 (GRCm39) small deletion probably benign
Z1192:Or2t49 UTSW 11 58,393,396 (GRCm39) start codon destroyed probably null 0.96
Posted On 2015-12-18