Incidental Mutation 'R9175:Or2t48'
ID 696634
Institutional Source Beutler Lab
Gene Symbol Or2t48
Ensembl Gene ENSMUSG00000050818
Gene Name olfactory receptor family 2 subfamily T member 48
Synonyms Olfr330, MOR275-1, GA_x6K02T2NKPP-895420-896349
MMRRC Submission 068948-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R9175 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 58419755-58425651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58420590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 74 (D74G)
Ref Sequence ENSEMBL: ENSMUSP00000149073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134055] [ENSMUST00000213188]
AlphaFold Q8VGD9
Predicted Effect probably damaging
Transcript: ENSMUST00000134055
AA Change: D74G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: D74G

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 probably damaging
Transcript: ENSMUST00000213188
AA Change: D74G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G A 7: 12,249,412 (GRCm39) D82N probably benign Het
Abca13 A G 11: 9,531,593 (GRCm39) K4607E probably damaging Het
Agpat4 G C 17: 12,417,669 (GRCm39) G70A probably damaging Het
Ank2 G A 3: 126,722,402 (GRCm39) T1017I possibly damaging Het
C2cd2 T C 16: 97,678,421 (GRCm39) I339V probably benign Het
Cacna1a A T 8: 85,296,644 (GRCm39) N1221Y probably damaging Het
Cacna1e A G 1: 154,274,314 (GRCm39) V2197A probably damaging Het
Ccdc74a T C 16: 17,468,042 (GRCm39) S101P probably benign Het
Cdh13 A T 8: 119,968,968 (GRCm39) I442F probably damaging Het
Cnot2 A T 10: 116,334,051 (GRCm39) M373K possibly damaging Het
Coch C A 12: 51,645,060 (GRCm39) H205N possibly damaging Het
Col6a4 A G 9: 105,957,560 (GRCm39) V88A probably benign Het
Erich3 A G 3: 154,419,601 (GRCm39) T35A probably benign Het
Gm28360 A T 1: 117,781,328 (GRCm39) K106N possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hspg2 T C 4: 137,256,657 (GRCm39) F1467L probably damaging Het
Ighg2c T C 12: 113,252,499 (GRCm39) T18A Het
Iqcm A G 8: 76,710,867 (GRCm39) K472E possibly damaging Het
Kcnk5 A T 14: 20,192,117 (GRCm39) V348D probably benign Het
Kcns3 C T 12: 11,169,801 (GRCm39) probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Muc5ac A G 7: 141,366,093 (GRCm39) D2787G possibly damaging Het
Nasp A G 4: 116,471,576 (GRCm39) C84R probably damaging Het
Nfia G A 4: 97,671,362 (GRCm39) R24H probably damaging Het
Opa3 C T 7: 18,989,466 (GRCm39) R110C probably damaging Het
Or8k25 A G 2: 86,244,099 (GRCm39) I99T probably benign Het
Pdia4 A C 6: 47,775,417 (GRCm39) S464R possibly damaging Het
Rab3gap2 A G 1: 185,009,360 (GRCm39) D1092G probably damaging Het
Rev3l A G 10: 39,730,764 (GRCm39) K2763E possibly damaging Het
Sanbr A T 11: 23,534,518 (GRCm39) probably null Het
Sorbs1 A T 19: 40,315,018 (GRCm39) L598Q probably damaging Het
Sppl2b A T 10: 80,698,807 (GRCm39) M154L probably benign Het
Stk33 A G 7: 108,920,724 (GRCm39) I331T probably damaging Het
Strip2 A G 6: 29,933,035 (GRCm39) E494G probably benign Het
Supt6 C T 11: 78,112,052 (GRCm39) R1010Q possibly damaging Het
Tada1 G A 1: 166,210,005 (GRCm39) R69H probably damaging Het
Tent4a A G 13: 69,663,915 (GRCm39) L268P probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tomm34 A G 2: 163,912,385 (GRCm39) probably null Het
Tpi1 T C 6: 124,788,871 (GRCm39) T223A probably damaging Het
Trpc3 T A 3: 36,709,279 (GRCm39) N399I probably benign Het
Vgll2 A G 10: 51,903,635 (GRCm39) H166R probably damaging Het
Vmn2r107 A T 17: 20,577,051 (GRCm39) I350F possibly damaging Het
Vmn2r114 T A 17: 23,527,212 (GRCm39) K440M probably damaging Het
Vmn2r55 T C 7: 12,385,793 (GRCm39) Y729C possibly damaging Het
Zfp106 G T 2: 120,353,197 (GRCm39) A1554E probably damaging Het
Zfyve27 A G 19: 42,169,997 (GRCm39) Y176C probably damaging Het
Zswim5 T A 4: 116,822,941 (GRCm39) N470K 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
IGL01782:Or2t48 APN 11 58,419,985 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- GGAGACAAACCCTGTAGTTCATG -3'
(R):5'- AGTCAGATTTCACCCTGGTGG -3'

Sequencing Primer
(F):5'- CCCTGTAGTTCATGAGGACAG -3'
(R):5'- GGTGGGATTCTTCAGTCAATCCAAAC -3'
Posted On 2022-02-07