Incidental Mutation 'IGL02064:Or56a42-ps1'
ID 185572
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 # IGL02064
Quality Score
Status
Chromosome 7
Chromosomal Location 104775573-104776269 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104776241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 89 (F89Y)
Ref Sequence ENSEMBL: ENSMUSP00000154164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071242] [ENSMUST00000098157] [ENSMUST00000214399] [ENSMUST00000215517] [ENSMUST00000216247] [ENSMUST00000215564]
AlphaFold A0A2I3BQ57
Predicted Effect possibly damaging
Transcript: ENSMUST00000071242
AA Change: F89Y

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071223
Gene: ENSMUSG00000059768
AA Change: F89Y

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 possibly damaging
Transcript: ENSMUST00000071242
AA Change: F89Y

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
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 possibly damaging
Transcript: ENSMUST00000214399
AA Change: F79Y

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215180
Predicted Effect probably benign
Transcript: ENSMUST00000215517
Predicted Effect probably benign
Transcript: ENSMUST00000216247
Predicted Effect probably benign
Transcript: ENSMUST00000215564
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Or56a42-ps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02070:Or56a42-ps1 APN 7 104,776,254 (GRCm39) missense probably benign 0.02
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