Incidental Mutation 'IGL01792:Cyp2c55'
ID 155244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2c55
Ensembl Gene ENSMUSG00000025002
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 55
Synonyms 2010318C06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01792
Quality Score
Status
Chromosome 19
Chromosomal Location 38995463-39031137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39030631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 488 (I488V)
Ref Sequence ENSEMBL: ENSMUSP00000025966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025966]
AlphaFold Q9D816
Predicted Effect probably benign
Transcript: ENSMUST00000025966
AA Change: I488V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: I488V

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:p450 30 487 1.1e-154 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik G T 17: 48,452,680 (GRCm39) F86L probably damaging Het
A2ml1 T C 6: 128,537,642 (GRCm39) T690A probably benign Het
Adam3 T C 8: 25,187,219 (GRCm39) N424S probably benign Het
Adarb2 T C 13: 8,620,185 (GRCm39) F224L probably damaging Het
Clcn3 T C 8: 61,382,356 (GRCm39) T438A probably damaging Het
Dennd1a A G 2: 38,016,592 (GRCm39) F84S probably damaging Het
Dennd4b A G 3: 90,187,152 (GRCm39) R1475G probably damaging Het
Ift172 G A 5: 31,434,215 (GRCm39) R508W probably damaging Het
Khdrbs2 C T 1: 32,696,548 (GRCm39) R326C probably damaging Het
Krt78 T G 15: 101,855,085 (GRCm39) M909L probably benign Het
Ncapg2 T A 12: 116,389,438 (GRCm39) F353I probably damaging Het
Or10d4c A T 9: 39,558,955 (GRCm39) N311I probably benign Het
Pigb A T 9: 72,925,268 (GRCm39) H396Q probably damaging Het
Rev3l C T 10: 39,699,336 (GRCm39) P1278S probably benign Het
Setd1b T A 5: 123,295,209 (GRCm39) V955D unknown Het
Slc22a16 T A 10: 40,449,928 (GRCm39) H121Q possibly damaging Het
Slc22a29 A T 19: 8,195,893 (GRCm39) C49S probably damaging Het
Smad1 T C 8: 80,098,752 (GRCm39) K21E probably damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Spic A G 10: 88,515,807 (GRCm39) I5T possibly damaging Het
Srpk1 G A 17: 28,818,441 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,985,484 (GRCm39) D1559G probably damaging Het
Unc13b T C 4: 43,250,218 (GRCm39) F992L probably damaging Het
Other mutations in Cyp2c55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Cyp2c55 APN 19 39,000,190 (GRCm39) missense probably benign 0.41
IGL00537:Cyp2c55 APN 19 39,000,150 (GRCm39) missense possibly damaging 0.93
IGL00959:Cyp2c55 APN 19 39,026,587 (GRCm39) missense probably benign 0.00
IGL01140:Cyp2c55 APN 19 39,007,093 (GRCm39) missense probably benign
PIT4453001:Cyp2c55 UTSW 19 39,000,235 (GRCm39) missense probably damaging 1.00
R0472:Cyp2c55 UTSW 19 39,019,823 (GRCm39) missense probably benign 0.01
R1452:Cyp2c55 UTSW 19 38,999,534 (GRCm39) missense probably damaging 1.00
R1468:Cyp2c55 UTSW 19 38,999,525 (GRCm39) missense probably damaging 0.96
R1468:Cyp2c55 UTSW 19 38,999,525 (GRCm39) missense probably damaging 0.96
R1925:Cyp2c55 UTSW 19 39,022,821 (GRCm39) missense probably benign 0.06
R2154:Cyp2c55 UTSW 19 39,022,819 (GRCm39) missense probably damaging 1.00
R3814:Cyp2c55 UTSW 19 38,995,509 (GRCm39) missense probably damaging 1.00
R4021:Cyp2c55 UTSW 19 39,023,878 (GRCm39) splice site probably null
R4022:Cyp2c55 UTSW 19 39,023,878 (GRCm39) splice site probably null
R4293:Cyp2c55 UTSW 19 39,000,235 (GRCm39) missense probably damaging 1.00
R4294:Cyp2c55 UTSW 19 39,000,235 (GRCm39) missense probably damaging 1.00
R4604:Cyp2c55 UTSW 19 39,019,830 (GRCm39) missense possibly damaging 0.82
R4740:Cyp2c55 UTSW 19 39,007,173 (GRCm39) missense probably benign
R4756:Cyp2c55 UTSW 19 39,019,815 (GRCm39) missense probably damaging 1.00
R4879:Cyp2c55 UTSW 19 39,030,522 (GRCm39) frame shift probably null
R5039:Cyp2c55 UTSW 19 39,026,587 (GRCm39) missense probably benign 0.00
R5672:Cyp2c55 UTSW 19 39,023,990 (GRCm39) missense probably benign 0.02
R5834:Cyp2c55 UTSW 19 39,030,511 (GRCm39) missense probably benign 0.00
R6198:Cyp2c55 UTSW 19 38,995,565 (GRCm39) nonsense probably null
R6255:Cyp2c55 UTSW 19 39,007,111 (GRCm39) missense probably benign 0.25
R6431:Cyp2c55 UTSW 19 39,019,853 (GRCm39) missense probably damaging 0.99
R6565:Cyp2c55 UTSW 19 39,030,566 (GRCm39) missense probably benign 0.09
R7934:Cyp2c55 UTSW 19 39,030,535 (GRCm39) missense probably damaging 1.00
R8477:Cyp2c55 UTSW 19 38,999,485 (GRCm39) missense probably damaging 0.97
R8865:Cyp2c55 UTSW 19 39,019,878 (GRCm39) missense probably benign 0.21
R8904:Cyp2c55 UTSW 19 39,022,816 (GRCm39) missense
R8960:Cyp2c55 UTSW 19 38,995,547 (GRCm39) missense probably null 1.00
R9012:Cyp2c55 UTSW 19 39,030,560 (GRCm39) missense probably benign 0.00
R9037:Cyp2c55 UTSW 19 39,030,537 (GRCm39) missense probably damaging 1.00
R9047:Cyp2c55 UTSW 19 39,019,790 (GRCm39) missense possibly damaging 0.55
R9164:Cyp2c55 UTSW 19 38,995,571 (GRCm39) nonsense probably null
X0062:Cyp2c55 UTSW 19 39,007,133 (GRCm39) missense probably damaging 0.98
Z1176:Cyp2c55 UTSW 19 39,023,957 (GRCm39) missense probably benign 0.05
Posted On 2014-02-04