Incidental Mutation 'IGL01782:Or2t48'
ID 153943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2t48
Ensembl Gene ENSMUSG00000050818
Gene Name olfactory receptor family 2 subfamily T member 48
Synonyms Olfr330, MOR275-1, GA_x6K02T2NKPP-895420-896349
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01782
Quality Score
Status
Chromosome 11
Chromosomal Location 58419755-58425651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58419985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 276 (M276L)
Ref Sequence ENSEMBL: ENSMUSP00000149073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134055] [ENSMUST00000213188]
AlphaFold Q8VGD9
Predicted Effect probably benign
Transcript: ENSMUST00000062869
AA Change: M276L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000063194
Gene: ENSMUSG00000050818
AA Change: M276L

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 1.6e-46 PFAM
Pfam:7TM_GPCR_Srsx 39 309 4.4e-6 PFAM
Pfam:7tm_1 45 294 2.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117184
Predicted Effect probably benign
Transcript: ENSMUST00000134055
AA Change: M276L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: M276L

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 1.6e-46 PFAM
Pfam:7TM_GPCR_Srsx 39 309 4.4e-6 PFAM
Pfam:7tm_1 45 294 2.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203550
SMART Domains Protein: ENSMUSP00000145138
Gene: ENSMUSG00000050818

DomainStartEndE-ValueType
Pfam:7tm_4 35 130 1.1e-13 PFAM
Pfam:7TM_GPCR_Srsx 39 130 1.3e-4 PFAM
Pfam:7tm_1 45 130 6.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213188
AA Change: M276L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T C 9: 63,523,995 (GRCm39) V34A probably benign Het
Acacb G T 5: 114,338,581 (GRCm39) G764W probably damaging Het
Adam34l T A 8: 44,079,772 (GRCm39) T151S probably benign Het
Ankib1 A G 5: 3,777,607 (GRCm39) C428R probably damaging Het
Card11 A G 5: 140,913,481 (GRCm39) M1T probably null Het
Ccdc62 T A 5: 124,092,639 (GRCm39) N541K possibly damaging Het
Cep290 C T 10: 100,380,987 (GRCm39) Q1742* probably null Het
Cyp2c23 T C 19: 44,017,554 (GRCm39) T25A possibly damaging Het
Dtx2 C A 5: 136,038,981 (GRCm39) Y13* probably null Het
Dync1h1 T C 12: 110,581,374 (GRCm39) I273T probably damaging Het
Etfb A G 7: 43,103,966 (GRCm39) T134A probably damaging Het
Fig4 A C 10: 41,146,396 (GRCm39) L182R probably benign Het
Gm10220 A T 5: 26,322,021 (GRCm39) L217Q probably damaging Het
Gm4871 T G 5: 144,967,170 (GRCm39) probably benign Het
Gm5464 T C 14: 67,106,837 (GRCm39) probably benign Het
Lurap1 A G 4: 116,001,700 (GRCm39) probably benign Het
Mmp17 T A 5: 129,679,205 (GRCm39) V368E probably damaging Het
Mrpl22 T A 11: 58,062,670 (GRCm39) probably null Het
Nisch G A 14: 30,898,596 (GRCm39) probably benign Het
Odf4 A T 11: 68,817,459 (GRCm39) H76Q probably damaging Het
Or6c207 C T 10: 129,104,908 (GRCm39) V95I probably benign Het
Orc1 T C 4: 108,463,465 (GRCm39) S661P possibly damaging Het
Otud4 T G 8: 80,399,640 (GRCm39) F784V possibly damaging Het
Prkch A G 12: 73,806,436 (GRCm39) D561G probably damaging Het
Pttg1ip T C 10: 77,417,763 (GRCm39) probably null Het
Ranbp2 A G 10: 58,314,131 (GRCm39) K1617R probably damaging Het
Rarb T G 14: 16,434,180 (GRCm38) S333R probably damaging Het
Rps6ka2 A G 17: 7,503,523 (GRCm39) K99E probably benign Het
Sel1l2 A T 2: 140,085,855 (GRCm39) W542R probably damaging Het
Sema3g G T 14: 30,949,748 (GRCm39) R643L probably damaging Het
Sltm T A 9: 70,480,923 (GRCm39) D258E probably damaging Het
Stx18 G A 5: 38,263,955 (GRCm39) V80I possibly damaging Het
Taar2 A T 10: 23,817,042 (GRCm39) N194I probably damaging Het
Ube2r2 T C 4: 41,174,129 (GRCm39) probably null Het
Unk C A 11: 115,949,205 (GRCm39) N645K probably benign Het
Vmn1r73 A G 7: 11,490,665 (GRCm39) K161R probably benign Het
Vps13a T C 19: 16,731,701 (GRCm39) D137G probably damaging Het
Xrra1 A G 7: 99,524,401 (GRCm39) T104A possibly damaging Het
Zfp410 T A 12: 84,374,048 (GRCm39) probably benign Het
Zfp764l1 T C 7: 126,992,476 (GRCm39) T45A probably benign Het
Other mutations in Or2t48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Or2t48 APN 11 58,420,222 (GRCm39) missense probably benign 0.17
IGL01672:Or2t48 APN 11 58,419,948 (GRCm39) missense probably benign 0.43
IGL01998:Or2t48 APN 11 58,420,403 (GRCm39) nonsense probably null
IGL02538:Or2t48 APN 11 58,420,816 (GRCm39) utr 5 prime probably benign
R1670:Or2t48 UTSW 11 58,420,237 (GRCm39) missense probably damaging 1.00
R1727:Or2t48 UTSW 11 58,420,342 (GRCm39) missense possibly damaging 0.51
R1768:Or2t48 UTSW 11 58,420,602 (GRCm39) missense probably damaging 1.00
R1839:Or2t48 UTSW 11 58,420,199 (GRCm39) nonsense probably null
R2129:Or2t48 UTSW 11 58,420,437 (GRCm39) missense probably damaging 1.00
R2135:Or2t48 UTSW 11 58,420,611 (GRCm39) missense probably damaging 1.00
R2425:Or2t48 UTSW 11 58,420,137 (GRCm39) missense probably damaging 1.00
R3753:Or2t48 UTSW 11 58,420,516 (GRCm39) missense probably benign 0.00
R4480:Or2t48 UTSW 11 58,420,627 (GRCm39) missense probably damaging 0.99
R4827:Or2t48 UTSW 11 58,420,422 (GRCm39) missense probably damaging 0.99
R4836:Or2t48 UTSW 11 58,420,308 (GRCm39) missense probably damaging 0.99
R4973:Or2t48 UTSW 11 58,419,903 (GRCm39) missense probably benign
R5128:Or2t48 UTSW 11 58,420,248 (GRCm39) missense probably damaging 0.98
R5288:Or2t48 UTSW 11 58,420,308 (GRCm39) missense probably damaging 0.99
R5326:Or2t48 UTSW 11 58,420,710 (GRCm39) missense probably benign 0.02
R5542:Or2t48 UTSW 11 58,420,710 (GRCm39) missense probably benign 0.02
R5620:Or2t48 UTSW 11 58,420,557 (GRCm39) missense probably damaging 0.99
R6210:Or2t48 UTSW 11 58,420,090 (GRCm39) missense probably damaging 1.00
R7163:Or2t48 UTSW 11 58,419,994 (GRCm39) nonsense probably null
R7886:Or2t48 UTSW 11 58,419,880 (GRCm39) missense probably benign 0.01
R8201:Or2t48 UTSW 11 58,419,865 (GRCm39) makesense noncoding transcript
R8519:Or2t48 UTSW 11 58,420,329 (GRCm39) missense possibly damaging 0.94
R8728:Or2t48 UTSW 11 58,420,027 (GRCm39) missense probably benign 0.34
R9175:Or2t48 UTSW 11 58,420,590 (GRCm39) missense probably damaging 1.00
R9178:Or2t48 UTSW 11 58,420,473 (GRCm39) missense probably damaging 1.00
R9190:Or2t48 UTSW 11 58,420,161 (GRCm39) missense possibly damaging 0.89
R9471:Or2t48 UTSW 11 58,420,355 (GRCm39) nonsense probably null
RF003:Or2t48 UTSW 11 58,419,983 (GRCm39) frame shift probably null
RF004:Or2t48 UTSW 11 58,419,983 (GRCm39) frame shift probably null
Posted On 2014-02-04