Incidental Mutation 'IGL01998:Or2t48'
ID 182941
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: 0.063) question?
Stock # IGL01998
Quality Score
Status
Chromosome 11
Chromosomal Location 58419755-58425651 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 58420403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 136 (Y136*)
Ref Sequence ENSEMBL: ENSMUSP00000149073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134055] [ENSMUST00000213188]
AlphaFold Q8VGD9
Predicted Effect probably null
Transcript: ENSMUST00000062869
AA Change: Y136*
SMART Domains Protein: ENSMUSP00000063194
Gene: ENSMUSG00000050818
AA Change: Y136*

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 null
Transcript: ENSMUST00000134055
AA Change: Y136*
SMART Domains Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: Y136*

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 null
Transcript: ENSMUST00000213188
AA Change: Y136*
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc3 T C 5: 122,541,470 (GRCm39) C78R probably damaging Het
Atp6v0b A G 4: 117,743,263 (GRCm39) probably null Het
B3gnt8 A G 7: 25,328,203 (GRCm39) Y211C probably damaging Het
Birc6 T C 17: 74,886,880 (GRCm39) I736T probably benign Het
Bltp1 T C 3: 37,011,165 (GRCm39) S1788P possibly damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
C3ar1 A T 6: 122,827,899 (GRCm39) M106K probably damaging Het
C9orf72 A T 4: 35,194,179 (GRCm39) D205E probably benign Het
Cab39l T A 14: 59,734,344 (GRCm39) L21Q probably damaging Het
Casp1 A T 9: 5,303,043 (GRCm39) I166F probably damaging Het
Cd180 A G 13: 102,841,722 (GRCm39) E256G probably damaging Het
Clca4a T C 3: 144,663,887 (GRCm39) T519A probably damaging Het
Clstn3 A T 6: 124,435,622 (GRCm39) L233Q probably damaging Het
Crlf3 G A 11: 79,948,845 (GRCm39) probably benign Het
Depdc5 T C 5: 33,102,495 (GRCm39) probably benign Het
Drc7 T A 8: 95,785,821 (GRCm39) C226S probably damaging Het
Epha5 T A 5: 84,232,593 (GRCm39) D807V probably damaging Het
Fat2 A G 11: 55,187,021 (GRCm39) L1275P probably benign Het
Fv1 T C 4: 147,953,784 (GRCm39) C117R possibly damaging Het
Ighg2b C A 12: 113,270,709 (GRCm39) M140I unknown Het
Klra5 A T 6: 129,883,676 (GRCm39) Y60* probably null Het
Lmtk2 C T 5: 144,112,883 (GRCm39) T1201I probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Ncapd2 A T 6: 125,146,896 (GRCm39) L1230H probably damaging Het
Nfx1 T A 4: 41,004,353 (GRCm39) I708N probably damaging Het
Notch2 A T 3: 98,050,422 (GRCm39) D1899V probably damaging Het
Npepl1 T A 2: 173,957,993 (GRCm39) probably benign Het
Nps T A 7: 134,870,481 (GRCm39) probably benign Het
Nrg1 T C 8: 32,408,162 (GRCm39) S24G probably damaging Het
Or1j20 A G 2: 36,759,658 (GRCm39) N27D probably benign Het
Or2ag16 G A 7: 106,351,758 (GRCm39) T279M possibly damaging Het
Or4k2 C A 14: 50,424,105 (GRCm39) V190L probably benign Het
Pigx G T 16: 31,903,428 (GRCm39) T211K probably benign Het
Pink1 A G 4: 138,048,053 (GRCm39) I223T probably damaging Het
Plat G A 8: 23,257,163 (GRCm39) A15T probably benign Het
Ptges2 G A 2: 32,291,542 (GRCm39) A310T possibly damaging Het
Rsl1d1 A G 16: 11,012,509 (GRCm39) S306P possibly damaging Het
Rxfp1 T C 3: 79,567,403 (GRCm39) K316E probably benign Het
Scn10a A G 9: 119,438,742 (GRCm39) I1708T probably damaging Het
Sdk2 A T 11: 113,729,358 (GRCm39) F1073Y probably damaging Het
Sp100 A G 1: 85,594,650 (GRCm39) D170G probably benign Het
Spock1 A T 13: 57,583,994 (GRCm39) probably benign Het
Strbp A G 2: 37,515,297 (GRCm39) L243P probably damaging Het
Tex55 A T 16: 38,648,586 (GRCm39) D174E probably benign Het
Tgm5 T A 2: 120,882,920 (GRCm39) T446S probably damaging Het
Tmem59l C T 8: 70,937,431 (GRCm39) V239I probably benign Het
Trav8-1 A T 14: 53,707,662 (GRCm39) T101S probably benign Het
Triml1 T C 8: 43,594,350 (GRCm39) D27G probably damaging Het
Vmn2r54 T C 7: 12,349,227 (GRCm39) E785G probably benign Het
Vps13c A G 9: 67,862,350 (GRCm39) probably null Het
Wwp2 C T 8: 108,276,153 (GRCm39) R64C probably damaging Het
Zfp608 T C 18: 55,024,890 (GRCm39) H1460R probably damaging 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
IGL01782:Or2t48 APN 11 58,419,985 (GRCm39) missense probably benign 0.03
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 2014-05-07