Incidental Mutation 'R3933:Olfr1293-ps'
ID474895
Institutional Source Beutler Lab
Gene Symbol Olfr1293-ps
Ensembl Gene ENSMUSG00000108908
Gene Nameolfactory receptor 1293, pseudogene
SynonymsMOR245-24P, OTTMUSG00000015076, GA_x6K02T2Q125-72578807-72579745
MMRRC Submission 040920-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #R3933 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location111525203-111533279 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111527955 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 232 (Y232H)
Ref Sequence ENSEMBL: ENSMUSP00000151814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102551] [ENSMUST00000120021] [ENSMUST00000215245] [ENSMUST00000217845]
Predicted Effect probably damaging
Transcript: ENSMUST00000102551
AA Change: Y214H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: Y214H

DomainStartEndE-ValueType
Pfam:7tm_4 17 289 6e-45 PFAM
Pfam:7TM_GPCR_Srsx 20 288 1.4e-7 PFAM
Pfam:7tm_1 27 273 7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120021
AA Change: Y217H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208680
Predicted Effect probably damaging
Transcript: ENSMUST00000215245
AA Change: Y232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217845
AA Change: Y232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,354,856 F3350L probably damaging Het
Acp6 T C 3: 97,166,183 V146A probably benign Het
Ap3b2 C T 7: 81,473,850 probably benign Het
Arhgef33 A G 17: 80,373,320 I630V probably benign Het
Astn2 G A 4: 66,403,955 R136C unknown Het
Bcl2l14 A G 6: 134,423,808 D64G probably damaging Het
C1rl T A 6: 124,508,822 L384* probably null Het
Ccdc130 G A 8: 84,260,352 A172V probably benign Het
Ccdc6 TCCGCCGCCGCC TCCGCCGCC 10: 70,189,170 probably benign Het
Coch T C 12: 51,603,338 I370T probably damaging Het
Ercc5 T A 1: 44,167,856 M643K probably benign Het
Fut8 A C 12: 77,475,259 K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 Y88H probably damaging Het
Hspg2 T C 4: 137,515,568 V670A probably damaging Het
Itga8 A G 2: 12,189,519 I690T probably benign Het
Lepr T C 4: 101,765,301 probably benign Het
Matn2 T C 15: 34,345,420 probably null Het
Mei1 A G 15: 82,083,152 K310E possibly damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Msl3 C T X: 168,671,817 A87T probably damaging Het
Ogdh T C 11: 6,342,601 V438A possibly damaging Het
Olfr1109 T A 2: 87,092,762 I212F probably benign Het
Opa1 A T 16: 29,610,880 E401D probably damaging Het
Parp2 G A 14: 50,819,387 V323M probably benign Het
Pip5k1a A G 3: 95,072,003 S161P probably benign Het
Pold3 T C 7: 100,121,401 E8G probably damaging Het
Pomt1 G A 2: 32,245,619 V332I probably benign Het
Ppp2ca T A 11: 52,119,262 N232K probably damaging Het
Prune2 A T 19: 17,123,954 D2274V probably damaging Het
Pwwp2b G A 7: 139,256,034 V464I possibly damaging Het
Rgs7bp T C 13: 105,052,998 M98V probably benign Het
Rubcn A G 16: 32,829,259 probably null Het
Scai A T 2: 39,075,052 D593E probably benign Het
Slc24a2 T C 4: 87,176,185 T366A probably benign Het
Sp100 A G 1: 85,681,109 I320V probably benign Het
Syngr2 C A 11: 117,813,417 P206Q probably damaging Het
Tatdn3 A T 1: 191,046,324 probably null Het
Thsd7a C T 6: 12,555,226 G220S probably benign Het
Tmem28 G A X: 99,821,864 V266M possibly damaging Het
Vmn2r10 C A 5: 109,002,222 A319S possibly damaging Het
Vmn2r11 C T 5: 109,053,394 A415T probably damaging Het
Vmn2r88 A G 14: 51,413,978 M258V probably benign Het
Wiz G A 17: 32,357,898 R561C probably damaging Het
Zfp422 T C 6: 116,626,459 K193R probably benign Het
Other mutations in Olfr1293-ps
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4231:Olfr1293-ps UTSW 2 111528201 missense probably damaging 1.00
R4364:Olfr1293-ps UTSW 2 111527640 missense probably benign 0.24
R4935:Olfr1293-ps UTSW 2 111527448 missense probably damaging 1.00
R4957:Olfr1293-ps UTSW 2 111528224 missense probably benign 0.00
R4959:Olfr1293-ps UTSW 2 111527624 missense probably damaging 1.00
R4973:Olfr1293-ps UTSW 2 111527624 missense probably damaging 1.00
R5333:Olfr1293-ps UTSW 2 111527703 missense probably benign
R6087:Olfr1293-ps UTSW 2 111528181 missense possibly damaging 0.81
R6431:Olfr1293-ps UTSW 2 111527656 missense probably damaging 1.00
R8189:Olfr1293-ps UTSW 2 111527773 missense
R8345:Olfr1293-ps UTSW 2 111527519 nonsense probably null
Predicted Primers
Posted On2017-04-14