Incidental Mutation 'R5672:Cyp2c55'
ID 442701
Institutional Source Beutler Lab
Gene Symbol Cyp2c55
Ensembl Gene ENSMUSG00000025002
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 55
Synonyms 2010318C06Rik
MMRRC Submission 043174-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5672 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 38995463-39031137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39023990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 355 (I355V)
Ref Sequence ENSEMBL: ENSMUSP00000025966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025966]
AlphaFold Q9D816
Predicted Effect probably benign
Transcript: ENSMUST00000025966
AA Change: I355V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: I355V

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:p450 30 487 1.1e-154 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,383 (GRCm39) N181S possibly damaging Het
Abcf3 A T 16: 20,368,002 (GRCm39) Q74L probably benign Het
Ankrd13c T C 3: 157,666,664 (GRCm39) probably null Het
Bub1 A G 2: 127,646,800 (GRCm39) F827L possibly damaging Het
Cfap68 T C 9: 50,675,227 (GRCm39) T67A probably benign Het
Dido1 A G 2: 180,313,696 (GRCm39) S319P probably damaging Het
Efna5 A T 17: 63,188,025 (GRCm39) V34D probably damaging Het
Fam131a G T 16: 20,518,389 (GRCm39) E88D probably damaging Het
Fsip2 A T 2: 82,817,838 (GRCm39) R4524* probably null Het
Gm6899 C T 11: 26,543,484 (GRCm39) probably benign Het
Iqcg C T 16: 32,839,878 (GRCm39) R356Q probably damaging Het
Itgae T A 11: 73,036,377 (GRCm39) I1105N possibly damaging Het
Klb T C 5: 65,537,292 (GRCm39) I874T possibly damaging Het
Klc3 T C 7: 19,130,256 (GRCm39) Y307C probably damaging Het
Lrp1b T A 2: 41,231,771 (GRCm39) H378L probably benign Het
Mxd4 G A 5: 34,335,044 (GRCm39) R114C probably damaging Het
Nrdc A T 4: 108,895,242 (GRCm39) R241* probably null Het
Ofcc1 G A 13: 40,433,905 (GRCm39) H67Y probably damaging Het
Or10ak9 A G 4: 118,726,379 (GRCm39) T134A possibly damaging Het
Or5p5 A G 7: 107,413,844 (GRCm39) T18A probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Pard3b G T 1: 62,049,625 (GRCm39) A128S probably benign Het
Plat T C 8: 23,263,664 (GRCm39) Y188H probably benign Het
Pop1 A G 15: 34,530,325 (GRCm39) K908E possibly damaging Het
Pten A G 19: 32,735,866 (GRCm39) I8V probably benign Het
Pwwp2a C T 11: 43,596,968 (GRCm39) A436V probably damaging Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sdk1 T C 5: 142,173,900 (GRCm39) C2023R possibly damaging Het
Serpina1d A C 12: 103,730,101 (GRCm39) D360E possibly damaging Het
Serpinb9b A G 13: 33,223,582 (GRCm39) D258G probably benign Het
Smgc G A 15: 91,726,108 (GRCm39) S18N possibly damaging Het
Snx27 A T 3: 94,410,157 (GRCm39) probably null Het
Spem1 T G 11: 69,712,263 (GRCm39) K134Q probably damaging Het
Srgap3 T A 6: 112,752,522 (GRCm39) M321L probably benign Het
Tanc1 T C 2: 59,602,697 (GRCm39) C163R possibly damaging Het
Ube2ql1 A T 13: 69,887,446 (GRCm39) L5H unknown Het
Ubn2 T C 6: 38,438,462 (GRCm39) I225T probably damaging Het
Vmn1r181 A C 7: 23,683,741 (GRCm39) T69P probably damaging Het
Vmn2r110 A G 17: 20,816,494 (GRCm39) F10L probably benign Het
Yeats2 T C 16: 19,980,779 (GRCm39) M236T 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
IGL01792:Cyp2c55 APN 19 39,030,631 (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
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
Predicted Primers PCR Primer
(F):5'- TCTAAGTGTACATGTGGTCTGATAC -3'
(R):5'- GACCATAAATGACACTTGGAAAGC -3'

Sequencing Primer
(F):5'- CATGTGGTCTGATACTTTTATCACAC -3'
(R):5'- GACACTTGGAAAGCAATACTTGTC -3'
Posted On 2016-11-09