Incidental Mutation 'IGL02070:Or56a42-ps1'
ID 185795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or56a42-ps1
Ensembl Gene ENSMUSG00000059768
Gene Name olfactory receptor family 56 subfamily A member 42, pseudogene 1
Synonyms MOR40-6P, Olfr217-ps1, MOR40-19_p, GA_x6K02SYW8DF-188-1037, GA_x6K02T2PBJ9-7755919-7755070, Olfr682-ps1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02070
Quality Score
Status
Chromosome 7
Chromosomal Location 104775573-104776269 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104776254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 85 (L85I)
Ref Sequence ENSEMBL: ENSMUSP00000154164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071242] [ENSMUST00000098157] [ENSMUST00000214399] [ENSMUST00000215517] [ENSMUST00000215564] [ENSMUST00000216247]
AlphaFold A0A2I3BQ57
Predicted Effect probably benign
Transcript: ENSMUST00000071242
AA Change: L85I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000071223
Gene: ENSMUSG00000059768
AA Change: L85I

DomainStartEndE-ValueType
Pfam:7tm_4 23 299 1.2e-71 PFAM
Pfam:7TM_GPCR_Srsx 27 297 3.9e-10 PFAM
Pfam:7tm_1 33 283 3.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071242
AA Change: L85I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000098157
SMART Domains Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2e-72 PFAM
Pfam:7TM_GPCR_Srsx 39 311 6.1e-10 PFAM
Pfam:7tm_1 45 296 7.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214399
AA Change: L75I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215180
Predicted Effect probably benign
Transcript: ENSMUST00000215517
Predicted Effect probably benign
Transcript: ENSMUST00000215564
Predicted Effect probably benign
Transcript: ENSMUST00000216247
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,343,336 (GRCm39) Y204H probably damaging Het
Akap13 C A 7: 75,316,293 (GRCm39) T583K probably benign Het
Alms1 C A 6: 85,628,385 (GRCm39) Q2948K possibly damaging Het
Auts2 C T 5: 131,499,259 (GRCm39) R327Q probably damaging Het
Card14 A C 11: 119,235,530 (GRCm39) E988A probably damaging Het
Ccl25 T C 8: 4,398,700 (GRCm39) probably benign Het
Cttnbp2nl A C 3: 104,918,582 (GRCm39) V86G probably damaging Het
Cyb5r2 G A 7: 107,350,394 (GRCm39) T213I probably damaging Het
Ear6 A G 14: 52,091,903 (GRCm39) H150R probably damaging Het
Ecm2 T C 13: 49,671,846 (GRCm39) C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 (GRCm39) E385* probably null Het
Hyal5 T A 6: 24,876,961 (GRCm39) V278D probably damaging Het
Mboat1 T C 13: 30,408,380 (GRCm39) L181P probably benign Het
Mdm1 A G 10: 117,982,523 (GRCm39) I53V probably damaging Het
Mfrp T C 9: 44,015,986 (GRCm39) Y368H probably benign Het
Myo1b A G 1: 51,833,496 (GRCm39) V365A probably damaging Het
Nexmif G T X: 103,126,817 (GRCm39) H1509Q probably benign Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Obox6 G A 7: 15,568,804 (GRCm39) S24L probably damaging Het
Optc T A 1: 133,828,914 (GRCm39) I178F probably damaging Het
Or4p22 T A 2: 88,317,346 (GRCm39) I90N probably damaging Het
Pcdh15 T A 10: 74,466,700 (GRCm39) N1535K probably benign Het
Pcdhb19 A T 18: 37,631,597 (GRCm39) N464I probably damaging Het
Pcsk5 C T 19: 17,416,406 (GRCm39) V1681I probably benign Het
Phf8-ps T C 17: 33,285,104 (GRCm39) E566G probably damaging Het
Pknox1 T A 17: 31,822,339 (GRCm39) probably benign Het
Ppa2 T C 3: 133,083,623 (GRCm39) F327S probably damaging Het
Rab39b G T X: 74,618,309 (GRCm39) L174M probably damaging Het
Reep5 A T 18: 34,505,526 (GRCm39) Y48* probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1a T A 10: 61,520,673 (GRCm39) probably benign Het
Satb1 T A 17: 52,047,095 (GRCm39) D740V probably damaging Het
Sema3f G A 9: 107,569,440 (GRCm39) T128I probably damaging Het
Snx1 A T 9: 66,005,731 (GRCm39) S129R probably damaging Het
Sptb T A 12: 76,652,313 (GRCm39) K1641N possibly damaging Het
Sptbn1 T C 11: 30,095,979 (GRCm39) E305G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Taar7d A T 10: 23,904,152 (GRCm39) I345F probably benign Het
Tes T C 6: 17,099,779 (GRCm39) L258P probably damaging Het
Trav9-4 A T 14: 53,913,817 (GRCm39) T24S possibly damaging Het
Utp20 A G 10: 88,657,739 (GRCm39) probably benign Het
Vcam1 T A 3: 115,919,646 (GRCm39) T207S probably benign Het
Xkrx T C X: 133,051,311 (GRCm39) S447G probably benign Het
Zfp318 T C 17: 46,707,644 (GRCm39) L234P probably damaging Het
Other mutations in Or56a42-ps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Or56a42-ps1 APN 7 104,776,241 (GRCm39) missense possibly damaging 0.91
R0597:Or56a42-ps1 UTSW 7 104,777,425 (GRCm39) missense possibly damaging 0.55
R4909:Or56a42-ps1 UTSW 7 104,777,435 (GRCm39) missense probably benign 0.00
R6800:Or56a42-ps1 UTSW 7 104,776,217 (GRCm39) missense probably benign 0.01
R6866:Or56a42-ps1 UTSW 7 104,775,825 (GRCm39) missense probably benign 0.00
R7365:Or56a42-ps1 UTSW 7 104,777,552 (GRCm39) missense probably benign 0.03
R7724:Or56a42-ps1 UTSW 7 104,777,459 (GRCm39) missense probably damaging 1.00
R7761:Or56a42-ps1 UTSW 7 104,775,926 (GRCm39) missense probably benign 0.31
R8879:Or56a42-ps1 UTSW 7 104,775,893 (GRCm39) missense probably benign
R9162:Or56a42-ps1 UTSW 7 104,777,454 (GRCm39) nonsense probably null
R9631:Or56a42-ps1 UTSW 7 104,775,607 (GRCm39) missense probably damaging 1.00
R9652:Or56a42-ps1 UTSW 7 104,775,985 (GRCm39) missense probably benign 0.09
R9653:Or56a42-ps1 UTSW 7 104,775,985 (GRCm39) missense probably benign 0.09
Z1177:Or56a42-ps1 UTSW 7 104,777,560 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07