Incidental Mutation 'R6210:Or2t48'
ID 503416
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 044344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6210 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58419755-58425651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58420090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 241 (A241T)
Ref Sequence ENSEMBL: ENSMUSP00000149073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134055] [ENSMUST00000213188]
AlphaFold Q8VGD9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117184
Predicted Effect probably damaging
Transcript: ENSMUST00000134055
AA Change: A241T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: A241T

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: A241T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.8911 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 95% (52/55)
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
Abhd3 T A 18: 10,706,032 (GRCm39) I94F probably damaging Het
Bbox1 A T 2: 110,100,422 (GRCm39) D258E probably benign Het
Catsperb A G 12: 101,378,827 (GRCm39) probably null Het
Ccdc127 T C 13: 74,505,040 (GRCm39) V196A probably benign Het
Cd101 A T 3: 100,925,959 (GRCm39) D253E probably damaging Het
Ceacam15 T C 7: 16,407,214 (GRCm39) Y101C probably damaging Het
Cep135 C T 5: 76,772,570 (GRCm39) L652F probably benign Het
Col5a1 G T 2: 27,922,633 (GRCm39) V234L probably benign Het
Cxcr6 T C 9: 123,639,073 (GRCm39) S25P possibly damaging Het
Dctn4 C T 18: 60,679,865 (GRCm39) Q258* probably null Het
Fmnl2 A T 2: 53,020,457 (GRCm39) N1067I possibly damaging Het
Frrs1 A T 3: 116,672,080 (GRCm39) K59N probably benign Het
Gpr157 T C 4: 150,186,055 (GRCm39) Y206H probably damaging Het
Hephl1 A G 9: 15,001,860 (GRCm39) Y161H possibly damaging Het
Hinfp C T 9: 44,210,169 (GRCm39) probably null Het
Igf2r A T 17: 12,933,838 (GRCm39) N805K probably damaging Het
Ilrun A T 17: 27,986,960 (GRCm39) D255E probably benign Het
Itga3 T C 11: 94,959,717 (GRCm39) probably benign Het
Itga6 A G 2: 71,664,351 (GRCm39) probably null Het
Kcnip1 G A 11: 33,595,600 (GRCm39) T30I possibly damaging Het
Lig4 T C 8: 10,021,585 (GRCm39) T732A probably benign Het
Lmod3 T A 6: 97,224,262 (GRCm39) T520S probably damaging Het
Megf8 G A 7: 25,043,145 (GRCm39) V1356I possibly damaging Het
Mical3 C T 6: 121,017,478 (GRCm39) probably null Het
Msi1 T C 5: 115,573,535 (GRCm39) I8T probably damaging Het
Mug4-ps A T 6: 121,927,276 (GRCm39) noncoding transcript Het
Myo1f T A 17: 33,820,044 (GRCm39) I783N probably damaging Het
Nr6a1 A C 2: 38,619,509 (GRCm39) I462S probably damaging Het
Or8k23 A G 2: 86,186,702 (GRCm39) V8A probably benign Het
Pah C A 10: 87,419,423 (GRCm39) Q449K probably benign Het
Pced1a A G 2: 130,263,839 (GRCm39) V271A probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Psg21 A G 7: 18,386,270 (GRCm39) Y239H probably damaging Het
Ptprt T C 2: 162,109,949 (GRCm39) Y180C probably damaging Het
Raet1d T A 10: 22,246,849 (GRCm39) I59N probably damaging Het
Rfx1 T C 8: 84,819,647 (GRCm39) L653P probably damaging Het
Rnase2a A G 14: 51,493,131 (GRCm39) V78A possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Serbp1 T C 6: 67,249,851 (GRCm39) probably benign Het
Tlr1 A T 5: 65,082,629 (GRCm39) H649Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 T A 9: 8,656,731 (GRCm39) D719E probably benign Het
Ttc21b A T 2: 66,066,698 (GRCm39) S318R probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Uhmk1 T C 1: 170,039,806 (GRCm39) Q187R probably damaging Het
Ung C T 5: 114,269,438 (GRCm39) A50V probably benign Het
Upk3bl C T 5: 136,088,674 (GRCm39) Q103* probably null Het
Usp17le C A 7: 104,418,350 (GRCm39) C264F probably damaging Het
Vmn2r105 T A 17: 20,448,758 (GRCm39) N140Y probably damaging Het
Vmn2r84 C T 10: 130,222,114 (GRCm39) C702Y probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp748 G A 13: 67,688,923 (GRCm39) P779L possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GTTTCTCAGAAGAGGGTGCTC -3'
(R):5'- TTCCTGCTGTGACAAAGCTC -3'

Sequencing Primer
(F):5'- GAGGGTGCTCACAACTAACAGTTTC -3'
(R):5'- GTGACAAAGCTCTCCTGCTCAG -3'
Posted On 2018-02-27