Incidental Mutation 'IGL03193:Cyp2a22'
ID 412699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2a22
Ensembl Gene ENSMUSG00000091867
Gene Name cytochrome P450, family 2, subfamily a, polypeptide 22
Synonyms EG233005
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL03193
Quality Score
Status
Chromosome 7
Chromosomal Location 26631056-26638809 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26635846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 239 (D239V)
Ref Sequence ENSEMBL: ENSMUSP00000128030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170227]
AlphaFold B2RXZ2
Predicted Effect probably benign
Transcript: ENSMUST00000170227
AA Change: D239V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128030
Gene: ENSMUSG00000091867
AA Change: D239V

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:p450 33 489 7.4e-148 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206957
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Arhgef12 T C 9: 42,903,829 (GRCm39) probably benign Het
Bmper C A 9: 23,277,544 (GRCm39) H211Q possibly damaging Het
C130074G19Rik A T 1: 184,614,899 (GRCm39) L97Q probably damaging Het
Csmd3 A T 15: 47,492,626 (GRCm39) probably benign Het
Cyb561a3 T C 19: 10,559,764 (GRCm39) Y30H probably benign Het
Fras1 A T 5: 96,925,965 (GRCm39) Y3723F probably damaging Het
Frem1 C T 4: 82,912,263 (GRCm39) probably benign Het
Gm382 G A X: 125,971,321 (GRCm39) A1169T probably damaging Het
Golga2 T C 2: 32,195,020 (GRCm39) L696P probably damaging Het
Gse1 G T 8: 121,298,079 (GRCm39) probably null Het
Herc1 T C 9: 66,309,962 (GRCm39) L1104P probably benign Het
Myh14 A G 7: 44,279,369 (GRCm39) V945A possibly damaging Het
Myo7a A G 7: 97,740,264 (GRCm39) F577L probably damaging Het
Ndst2 A T 14: 20,779,917 (GRCm39) S108T probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Neo1 T C 9: 58,815,767 (GRCm39) Y836C probably damaging Het
Nlrp4e T C 7: 23,020,251 (GRCm39) L246P probably damaging Het
Or52n2 A G 7: 104,542,263 (GRCm39) C191R probably benign Het
Osbpl9 A G 4: 108,924,163 (GRCm39) S471P possibly damaging Het
Patl1 T A 19: 11,898,204 (GRCm39) D127E possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Prlr T A 15: 10,328,376 (GRCm39) S284T possibly damaging Het
Prps2 A T X: 166,157,080 (GRCm39) N75K possibly damaging Het
Sec16b A T 1: 157,362,963 (GRCm39) M265L probably benign Het
Slc9a2 G T 1: 40,795,431 (GRCm39) V511L probably benign Het
Tm9sf5 A G X: 56,463,503 (GRCm39) probably benign Het
Tnp1 G A 1: 73,054,923 (GRCm39) R34W probably damaging Het
Tpr A G 1: 150,315,831 (GRCm39) D2036G possibly damaging Het
Trpm6 T C 19: 18,803,236 (GRCm39) V893A possibly damaging Het
Tshb T C 3: 102,685,515 (GRCm39) Y38C probably damaging Het
Usp17lb A T 7: 104,490,484 (GRCm39) S148T possibly damaging Het
Other mutations in Cyp2a22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Cyp2a22 APN 7 26,637,163 (GRCm39) missense probably benign 0.09
IGL01111:Cyp2a22 APN 7 26,635,883 (GRCm39) missense probably damaging 1.00
IGL01388:Cyp2a22 APN 7 26,637,217 (GRCm39) missense probably benign 0.02
IGL01449:Cyp2a22 APN 7 26,632,978 (GRCm39) missense probably benign 0.01
IGL01642:Cyp2a22 APN 7 26,638,184 (GRCm39) missense possibly damaging 0.81
IGL02253:Cyp2a22 APN 7 26,637,662 (GRCm39) splice site probably benign
IGL02327:Cyp2a22 APN 7 26,634,206 (GRCm39) missense probably damaging 0.99
IGL02673:Cyp2a22 APN 7 26,637,525 (GRCm39) missense probably benign 0.00
IGL02813:Cyp2a22 APN 7 26,635,859 (GRCm39) missense probably benign 0.19
IGL02896:Cyp2a22 APN 7 26,635,886 (GRCm39) missense probably damaging 0.98
IGL03350:Cyp2a22 APN 7 26,634,279 (GRCm39) missense possibly damaging 0.88
R1648:Cyp2a22 UTSW 7 26,631,793 (GRCm39) missense probably damaging 0.98
R1679:Cyp2a22 UTSW 7 26,635,736 (GRCm39) nonsense probably null
R1733:Cyp2a22 UTSW 7 26,634,187 (GRCm39) missense possibly damaging 0.78
R2001:Cyp2a22 UTSW 7 26,634,197 (GRCm39) missense probably damaging 1.00
R2858:Cyp2a22 UTSW 7 26,633,687 (GRCm39) missense probably damaging 0.99
R3054:Cyp2a22 UTSW 7 26,638,254 (GRCm39) missense probably damaging 1.00
R4528:Cyp2a22 UTSW 7 26,634,194 (GRCm39) missense possibly damaging 0.95
R4623:Cyp2a22 UTSW 7 26,632,916 (GRCm39) missense probably damaging 1.00
R4669:Cyp2a22 UTSW 7 26,637,280 (GRCm39) missense possibly damaging 0.88
R4690:Cyp2a22 UTSW 7 26,638,634 (GRCm39) nonsense probably null
R4840:Cyp2a22 UTSW 7 26,631,949 (GRCm39) missense probably benign 0.13
R4915:Cyp2a22 UTSW 7 26,637,195 (GRCm39) missense probably benign 0.33
R5071:Cyp2a22 UTSW 7 26,631,906 (GRCm39) missense probably benign 0.01
R5072:Cyp2a22 UTSW 7 26,631,906 (GRCm39) missense probably benign 0.01
R5074:Cyp2a22 UTSW 7 26,631,906 (GRCm39) missense probably benign 0.01
R5147:Cyp2a22 UTSW 7 26,635,750 (GRCm39) missense probably damaging 1.00
R5363:Cyp2a22 UTSW 7 26,635,858 (GRCm39) missense probably damaging 0.99
R5705:Cyp2a22 UTSW 7 26,638,640 (GRCm39) missense probably benign 0.05
R6014:Cyp2a22 UTSW 7 26,638,605 (GRCm39) splice site probably null
R6042:Cyp2a22 UTSW 7 26,633,664 (GRCm39) missense probably damaging 1.00
R6253:Cyp2a22 UTSW 7 26,633,657 (GRCm39) missense probably benign 0.18
R6757:Cyp2a22 UTSW 7 26,638,629 (GRCm39) missense probably benign 0.00
R6994:Cyp2a22 UTSW 7 26,638,606 (GRCm39) critical splice donor site probably null
R7581:Cyp2a22 UTSW 7 26,637,573 (GRCm39) missense possibly damaging 0.87
R8212:Cyp2a22 UTSW 7 26,637,205 (GRCm39) missense possibly damaging 0.89
R9225:Cyp2a22 UTSW 7 26,637,202 (GRCm39) missense possibly damaging 0.81
R9749:Cyp2a22 UTSW 7 26,638,715 (GRCm39) missense probably null 0.41
Posted On 2016-08-02