Incidental Mutation 'R6053:Or2t47'
ID 484250
Institutional Source Beutler Lab
Gene Symbol Or2t47
Ensembl Gene ENSMUSG00000057654
Gene Name olfactory receptor family 2 subfamily T member 47
Synonyms GA_x6K02T2NKPP-873285-874217, MOR275-2, Olfr328
MMRRC Submission 044221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 58442131-58443063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58442892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 58 (M58L)
Ref Sequence ENSEMBL: ENSMUSP00000150086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073933] [ENSMUST00000108824] [ENSMUST00000215717] [ENSMUST00000216725]
AlphaFold Q5NCD3
Predicted Effect possibly damaging
Transcript: ENSMUST00000073933
AA Change: M58L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073588
Gene: ENSMUSG00000057654
AA Change: M58L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 34 303 8.3e-6 PFAM
Pfam:7tm_1 40 289 1.4e-34 PFAM
Pfam:7tm_4 138 282 4.4e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108824
AA Change: M58L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104452
Gene: ENSMUSG00000057654
AA Change: M58L

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 7e-45 PFAM
Pfam:7TM_GPCR_Srsx 34 303 8.3e-6 PFAM
Pfam:7tm_1 40 289 9.8e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215717
AA Change: M58L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216725
AA Change: M58L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,964,666 (GRCm39) Y2158H probably damaging Het
Acap1 T G 11: 69,777,896 (GRCm39) probably null Het
Adamts4 T A 1: 171,080,284 (GRCm39) I279N possibly damaging Het
Akap3 A G 6: 126,843,496 (GRCm39) E705G probably damaging Het
Aoc1l3 A G 6: 48,965,422 (GRCm39) T477A probably benign Het
Arap3 C A 18: 38,123,824 (GRCm39) L398F probably damaging Het
Catsperg1 A T 7: 28,910,239 (GRCm39) L34* probably null Het
Ccdc171 T G 4: 83,713,456 (GRCm39) L1165R probably damaging Het
Ccdc3 G A 2: 5,233,838 (GRCm39) V221I probably benign Het
Cdc42ep4 T A 11: 113,619,812 (GRCm39) H193L probably damaging Het
Clcn1 G A 6: 42,277,208 (GRCm39) W361* probably null Het
Cntn2 T C 1: 132,446,090 (GRCm39) N832S probably benign Het
Col5a1 A T 2: 27,904,389 (GRCm39) probably benign Het
Cplane1 A G 15: 8,217,945 (GRCm39) D785G probably benign Het
Cspg4b C A 13: 113,457,260 (GRCm39) P1102Q possibly damaging Het
Ctc1 T A 11: 68,918,727 (GRCm39) M550K probably benign Het
Dennd5a T C 7: 109,532,952 (GRCm39) R273G probably damaging Het
Dnajb7 T C 15: 81,291,500 (GRCm39) E279G probably benign Het
Dop1a G T 9: 86,397,347 (GRCm39) G882W possibly damaging Het
Dvl2 A G 11: 69,896,819 (GRCm39) R238G possibly damaging Het
Ect2l A T 10: 18,017,592 (GRCm39) L629Q probably damaging Het
Enpp1 T C 10: 24,533,024 (GRCm39) D497G possibly damaging Het
Ep400 T C 5: 110,903,661 (GRCm39) M313V probably benign Het
Epn2 T C 11: 61,437,323 (GRCm39) Y83C probably damaging Het
Ercc3 T G 18: 32,379,807 (GRCm39) V338G probably damaging Het
Fkbp5 T C 17: 28,647,440 (GRCm39) I132V probably benign Het
Fn1 A T 1: 71,638,449 (GRCm39) Y1846N probably damaging Het
Foxg1 T C 12: 49,432,161 (GRCm39) L298P possibly damaging Het
Foxo3 G A 10: 42,073,210 (GRCm39) P436S probably benign Het
Gbx2 T C 1: 89,858,159 (GRCm39) T107A probably benign Het
Gli1 G T 10: 127,170,184 (GRCm39) H324N probably damaging Het
Gnas T A 2: 174,141,645 (GRCm39) S605T possibly damaging Het
Ica1 C T 6: 8,630,783 (GRCm39) A431T probably benign Het
Il10ra C T 9: 45,167,601 (GRCm39) D319N probably damaging Het
Jmjd4 T A 11: 59,344,870 (GRCm39) H274Q probably damaging Het
Krt28 C A 11: 99,262,027 (GRCm39) L294F probably benign Het
Ltbp3 C A 19: 5,802,122 (GRCm39) T766K probably damaging Het
Man2b2 C A 5: 36,970,382 (GRCm39) M841I probably benign Het
Mmp14 T A 14: 54,673,347 (GRCm39) M85K probably benign Het
Mmp1b T A 9: 7,385,031 (GRCm39) D206V probably benign Het
Muc5b T C 7: 141,418,445 (GRCm39) F3797S probably benign Het
Mug1 A G 6: 121,842,697 (GRCm39) D561G probably benign Het
Myo18a T A 11: 77,709,002 (GRCm39) H471Q probably damaging Het
Nfkb2 A G 19: 46,300,251 (GRCm39) E873G probably damaging Het
Ngfr G A 11: 95,461,832 (GRCm39) H361Y possibly damaging Het
Nnt T C 13: 119,494,045 (GRCm39) T679A possibly damaging Het
Notch1 A T 2: 26,362,924 (GRCm39) N947K probably benign Het
Nrg4 A T 9: 55,143,774 (GRCm39) V94D probably benign Het
Nsd1 G T 13: 55,441,422 (GRCm39) C1631F probably damaging Het
Nutm1 T C 2: 112,079,435 (GRCm39) T827A probably benign Het
Or4c114 T C 2: 88,904,898 (GRCm39) D179G probably damaging Het
Or5h19 A T 16: 58,856,351 (GRCm39) Y250N probably damaging Het
Or6p1 C A 1: 174,258,135 (GRCm39) S47* probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Orai3 C T 7: 127,373,050 (GRCm39) P184S probably benign Het
Paqr3 A T 5: 97,259,137 (GRCm39) S56T probably benign Het
Pard6b C T 2: 167,940,973 (GRCm39) T320M possibly damaging Het
Pgs1 T C 11: 117,892,535 (GRCm39) S166P probably damaging Het
Plaa T C 4: 94,478,121 (GRCm39) T114A probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plin4 A T 17: 56,415,618 (GRCm39) D73E probably benign Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Rbak A C 5: 143,160,437 (GRCm39) Y205* probably null Het
Rgs12 T C 5: 35,123,296 (GRCm39) F360L probably benign Het
Rgs22 A T 15: 36,100,153 (GRCm39) D187E probably benign Het
Sec24d C T 3: 123,072,871 (GRCm39) Q66* probably null Het
Sh2d5 T A 4: 137,982,873 (GRCm39) M85K probably damaging Het
Sos1 A G 17: 80,722,463 (GRCm39) V861A possibly damaging Het
Stk11ip T A 1: 75,510,899 (GRCm39) probably null Het
Tmem26 G A 10: 68,584,314 (GRCm39) E127K probably benign Het
Tmem41a T G 16: 21,753,739 (GRCm39) T211P possibly damaging Het
Tmem69 T A 4: 116,410,581 (GRCm39) M130L possibly damaging Het
Trak2 C A 1: 58,943,228 (GRCm39) R726L possibly damaging Het
Vmn1r231 A G 17: 21,110,081 (GRCm39) I278T probably damaging Het
Vwf G A 6: 125,577,628 (GRCm39) V490I probably benign Het
Wdr33 C T 18: 32,011,116 (GRCm39) T255I possibly damaging Het
Ylpm1 G T 12: 85,043,277 (GRCm39) W5L possibly damaging Het
Zfp169 A T 13: 48,652,334 (GRCm39) W28R probably damaging Het
Other mutations in Or2t47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01950:Or2t47 APN 11 58,442,560 (GRCm39) nonsense probably null
IGL02887:Or2t47 APN 11 58,442,987 (GRCm39) missense probably damaging 1.00
IGL03409:Or2t47 APN 11 58,442,388 (GRCm39) missense probably benign 0.01
P4748:Or2t47 UTSW 11 58,442,348 (GRCm39) missense probably damaging 1.00
R0504:Or2t47 UTSW 11 58,442,462 (GRCm39) missense probably damaging 1.00
R1637:Or2t47 UTSW 11 58,442,246 (GRCm39) missense possibly damaging 0.64
R1863:Or2t47 UTSW 11 58,442,849 (GRCm39) missense probably benign 0.04
R2158:Or2t47 UTSW 11 58,442,768 (GRCm39) missense probably damaging 1.00
R2404:Or2t47 UTSW 11 58,442,546 (GRCm39) missense probably damaging 1.00
R4024:Or2t47 UTSW 11 58,442,222 (GRCm39) missense possibly damaging 0.90
R4073:Or2t47 UTSW 11 58,442,888 (GRCm39) missense probably damaging 1.00
R5261:Or2t47 UTSW 11 58,442,877 (GRCm39) missense probably benign 0.01
R5399:Or2t47 UTSW 11 58,442,969 (GRCm39) missense probably benign 0.20
R6411:Or2t47 UTSW 11 58,442,483 (GRCm39) missense probably damaging 0.99
R6709:Or2t47 UTSW 11 58,442,862 (GRCm39) missense probably benign 0.01
R7243:Or2t47 UTSW 11 58,442,227 (GRCm39) missense probably damaging 1.00
R7540:Or2t47 UTSW 11 58,442,457 (GRCm39) missense possibly damaging 0.96
R8359:Or2t47 UTSW 11 58,443,029 (GRCm39) missense probably benign
R8984:Or2t47 UTSW 11 58,442,209 (GRCm39) missense probably damaging 1.00
R9648:Or2t47 UTSW 11 58,442,313 (GRCm39) missense probably damaging 1.00
R9676:Or2t47 UTSW 11 58,442,253 (GRCm39) missense probably benign 0.00
Z1186:Or2t47 UTSW 11 58,442,387 (GRCm39) missense probably benign
Z1186:Or2t47 UTSW 11 58,442,801 (GRCm39) missense probably benign
Z1186:Or2t47 UTSW 11 58,442,940 (GRCm39) missense probably benign 0.00
Z1187:Or2t47 UTSW 11 58,442,940 (GRCm39) missense probably benign 0.00
Z1187:Or2t47 UTSW 11 58,442,801 (GRCm39) missense probably benign
Z1187:Or2t47 UTSW 11 58,442,387 (GRCm39) missense probably benign
Z1188:Or2t47 UTSW 11 58,442,940 (GRCm39) missense probably benign 0.00
Z1188:Or2t47 UTSW 11 58,442,801 (GRCm39) missense probably benign
Z1188:Or2t47 UTSW 11 58,442,387 (GRCm39) missense probably benign
Z1189:Or2t47 UTSW 11 58,442,940 (GRCm39) missense probably benign 0.00
Z1189:Or2t47 UTSW 11 58,442,801 (GRCm39) missense probably benign
Z1189:Or2t47 UTSW 11 58,442,387 (GRCm39) missense probably benign
Z1190:Or2t47 UTSW 11 58,442,940 (GRCm39) missense probably benign 0.00
Z1190:Or2t47 UTSW 11 58,442,801 (GRCm39) missense probably benign
Z1190:Or2t47 UTSW 11 58,442,387 (GRCm39) missense probably benign
Z1191:Or2t47 UTSW 11 58,442,940 (GRCm39) missense probably benign 0.00
Z1191:Or2t47 UTSW 11 58,442,801 (GRCm39) missense probably benign
Z1191:Or2t47 UTSW 11 58,442,387 (GRCm39) missense probably benign
Z1192:Or2t47 UTSW 11 58,442,940 (GRCm39) missense probably benign 0.00
Z1192:Or2t47 UTSW 11 58,442,801 (GRCm39) missense probably benign
Z1192:Or2t47 UTSW 11 58,442,387 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGGTCATAAGACATAGCAGCC -3'
(R):5'- TTGGTTTCCTAGGAGACACCCAG -3'

Sequencing Primer
(F):5'- GTCATAAGACATAGCAGCCAGAAGC -3'
(R):5'- GGACCTCACAACCTGGATGAG -3'
Posted On 2017-07-14