Incidental Mutation 'R7243:Or2t47'
ID 563370
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 045307-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58442131-58443063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58442227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 279 (I279M)
Ref Sequence ENSEMBL: ENSMUSP00000104452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073933] [ENSMUST00000108824] [ENSMUST00000215717] [ENSMUST00000216725] [ENSMUST00000219448]
AlphaFold Q5NCD3
Predicted Effect probably damaging
Transcript: ENSMUST00000073933
AA Change: I279M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073588
Gene: ENSMUSG00000057654
AA Change: I279M

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 probably damaging
Transcript: ENSMUST00000108824
AA Change: I279M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104452
Gene: ENSMUSG00000057654
AA Change: I279M

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 probably damaging
Transcript: ENSMUST00000215717
AA Change: I279M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216725
AA Change: I279M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219448
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Aox3 G T 1: 58,177,466 (GRCm39) G227V unknown Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Cog6 A T 3: 52,909,736 (GRCm39) W314R probably damaging Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcho2 T C 13: 98,891,724 (GRCm39) D346G possibly damaging Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Fyb1 T C 15: 6,673,180 (GRCm39) F605L probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ift88 A T 14: 57,667,993 (GRCm39) probably null Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcca A G 14: 123,114,186 (GRCm39) H633R probably benign Het
Pcdhb22 A G 18: 37,653,685 (GRCm39) R461G probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptbp2 G T 3: 119,546,761 (GRCm39) N40K possibly damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q 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
R6053:Or2t47 UTSW 11 58,442,892 (GRCm39) missense possibly damaging 0.90
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
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'- AAACTGAGCATGAGACCCG -3'
(R):5'- ACCCTCATGTATGTGTGCTGTG -3'

Sequencing Primer
(F):5'- TGAGCATGAGACCCGGATCAAC -3'
(R):5'- ATTCCTGTGACAGTCATTTCAGG -3'
Posted On 2019-06-26