Incidental Mutation 'R1670:Or2t48'
ID 187563
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 039706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1670 (G1)
Quality Score 160
Status Not validated
Chromosome 11
Chromosomal Location 58419755-58425651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58420237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 192 (S192T)
Ref Sequence ENSEMBL: ENSMUSP00000149073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134055] [ENSMUST00000213188]
AlphaFold Q8VGD9
Predicted Effect probably damaging
Transcript: ENSMUST00000062869
AA Change: S192T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063194
Gene: ENSMUSG00000050818
AA Change: S192T

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 damaging
Transcript: ENSMUST00000134055
AA Change: S192T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: S192T

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 damaging
Transcript: ENSMUST00000213188
AA Change: S192T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (74/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,540,448 (GRCm39) V1497A possibly damaging Het
Adam15 T C 3: 89,255,817 (GRCm39) probably benign Het
Angel2 T A 1: 190,674,360 (GRCm39) S371T probably benign Het
Atr T A 9: 95,743,509 (GRCm39) N49K probably benign Het
Bace2 G A 16: 97,213,335 (GRCm39) M228I probably damaging Het
Bdp1 A C 13: 100,163,941 (GRCm39) probably null Het
Calr A T 8: 85,570,748 (GRCm39) D302E probably benign Het
Camta1 T C 4: 151,164,228 (GRCm39) D340G probably benign Het
Car11 C T 7: 45,352,949 (GRCm39) T236I possibly damaging Het
Cfap69 A T 5: 5,636,409 (GRCm39) S275T probably benign Het
Cib2 G A 9: 54,455,653 (GRCm39) R104W probably damaging Het
CN725425 T C 15: 91,130,018 (GRCm39) S294P possibly damaging Het
Coro7 G A 16: 4,446,097 (GRCm39) S876F possibly damaging Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Dennd6b C A 15: 89,069,540 (GRCm39) probably benign Het
Dhx30 A T 9: 109,914,341 (GRCm39) Y979N possibly damaging Het
Dnaaf9 G A 2: 130,554,299 (GRCm39) P187S probably damaging Het
Dnah8 A T 17: 30,944,098 (GRCm39) I1772F probably damaging Het
Dync2h1 A T 9: 6,993,942 (GRCm39) I3976N possibly damaging Het
Ebi3 T C 17: 56,261,479 (GRCm39) I125T probably damaging Het
Elfn2 C T 15: 78,556,568 (GRCm39) A660T probably benign Het
F12 C T 13: 55,569,346 (GRCm39) C209Y probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T A 7: 129,782,187 (GRCm39) D413V probably damaging Het
Gdf10 T A 14: 33,654,000 (GRCm39) I169N possibly damaging Het
Gdnf T C 15: 7,845,130 (GRCm39) V41A probably benign Het
Gm9857 A T 3: 108,847,478 (GRCm39) probably benign Het
Gpatch11 A G 17: 79,146,529 (GRCm39) E58G possibly damaging Het
Gpr55 A G 1: 85,869,137 (GRCm39) V148A possibly damaging Het
Gucy1b1 A G 3: 81,952,767 (GRCm39) I222T probably benign Het
Hnf4a T C 2: 163,404,496 (GRCm39) S227P probably damaging Het
Hsfy2 A G 1: 56,675,548 (GRCm39) S330P possibly damaging Het
Hycc1 T A 5: 24,204,989 (GRCm39) M1L possibly damaging Het
Ift122 T C 6: 115,900,844 (GRCm39) V1054A probably benign Het
Il27 T A 7: 126,188,647 (GRCm39) E175D probably benign Het
Lactb2 A T 1: 13,730,641 (GRCm39) S12T probably damaging Het
Lrfn2 T C 17: 49,403,605 (GRCm39) V576A probably benign Het
Mansc4 C G 6: 146,976,689 (GRCm39) R309T possibly damaging Het
Med12l AACAGCA AACAGCAACAGCA 3: 59,183,379 (GRCm39) probably benign Het
Mrpl16 C T 19: 11,751,959 (GRCm39) R240* probably null Het
Muc17 A G 5: 137,172,843 (GRCm39) V70A probably benign Het
Ndnf A G 6: 65,680,054 (GRCm39) D111G probably benign Het
Nek4 T C 14: 30,704,384 (GRCm39) F688S probably damaging Het
Nkx2-6 T A 14: 69,412,126 (GRCm39) M98K probably benign Het
Nup188 T C 2: 30,230,667 (GRCm39) S1402P probably benign Het
Or10j2 T A 1: 173,098,467 (GRCm39) S242T probably damaging Het
Or4f14b C T 2: 111,775,264 (GRCm39) C179Y probably damaging Het
Or52i2 A G 7: 102,319,609 (GRCm39) T161A possibly damaging Het
Or5ac23 A T 16: 59,149,607 (GRCm39) N88K probably benign Het
Or5ac24 T C 16: 59,165,790 (GRCm39) I91M possibly damaging Het
Or5m9b T A 2: 85,905,594 (GRCm39) V170D probably benign Het
Parp10 A T 15: 76,126,270 (GRCm39) V306E probably benign Het
Pcnx3 A G 19: 5,723,343 (GRCm39) L1284P probably damaging Het
Pld1 A T 3: 28,103,389 (GRCm39) I365F probably benign Het
Pnisr A G 4: 21,865,893 (GRCm39) D294G probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ptprn2 A C 12: 116,685,792 (GRCm39) T84P possibly damaging Het
Rln1 C T 19: 29,309,468 (GRCm39) E104K possibly damaging Het
Rnf38 A G 4: 44,138,681 (GRCm39) S271P probably damaging Het
Rngtt A G 4: 33,368,660 (GRCm39) T398A probably benign Het
Rprd2 G T 3: 95,672,115 (GRCm39) T1096K probably damaging Het
Sema3e C T 5: 14,212,199 (GRCm39) probably benign Het
Sema5a T A 15: 32,548,945 (GRCm39) C140S probably damaging Het
Shpk A C 11: 73,113,757 (GRCm39) D390A probably benign Het
Slc22a20 C T 19: 6,022,876 (GRCm39) probably benign Het
Steap2 A G 5: 5,727,393 (GRCm39) V314A possibly damaging Het
Stxbp5l A G 16: 37,111,289 (GRCm39) probably null Het
Tgm3 G T 2: 129,883,688 (GRCm39) E449* probably null Het
Tmem68 A C 4: 3,560,627 (GRCm39) L186V probably damaging Het
Ttc41 T A 10: 86,612,116 (GRCm39) W1130R possibly damaging Het
Ttpal T C 2: 163,457,286 (GRCm39) F253L possibly damaging Het
Vmn2r99 G T 17: 19,582,514 (GRCm39) V40F probably benign Het
Xkr9 G A 1: 13,771,167 (GRCm39) V228M probably damaging Het
Zc3h7b C T 15: 81,661,268 (GRCm39) A369V 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
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
Predicted Primers PCR Primer
(F):5'- AGACACCACCATGTCCTTCTCAGG -3'
(R):5'- TGTCACTGTGCCCAAGATGCTC -3'

Sequencing Primer
(F):5'- GTGACCACAGTCATGTGGG -3'
(R):5'- CTCTATGTGACACTAGCAGGTTCAG -3'
Posted On 2014-05-09