Incidental Mutation 'R4740:Cyp2c55'
ID 359661
Institutional Source Beutler Lab
Gene Symbol Cyp2c55
Ensembl Gene ENSMUSG00000025002
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 55
Synonyms 2010318C06Rik
MMRRC Submission 041965-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4740 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 38995463-39031137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39007173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 190 (K190E)
Ref Sequence ENSEMBL: ENSMUSP00000025966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025966]
AlphaFold Q9D816
Predicted Effect probably benign
Transcript: ENSMUST00000025966
AA Change: K190E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: K190E

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:p450 30 487 1.1e-154 PFAM
Meta Mutation Damage Score 0.0663 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (95/95)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik C T 16: 21,513,146 (GRCm39) A4T probably benign Het
Aacs T C 5: 125,583,316 (GRCm39) S291P probably damaging Het
Abcb1a T C 5: 8,752,280 (GRCm39) probably null Het
Apol10a C T 15: 77,372,841 (GRCm39) T159I possibly damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Atg16l2 A G 7: 100,946,385 (GRCm39) L129P probably damaging Het
Baiap2l2 T A 15: 79,143,951 (GRCm39) Y381F probably benign Het
Chd6 A T 2: 160,812,103 (GRCm39) D1363E probably benign Het
Ciao3 A T 17: 26,000,283 (GRCm39) H322L probably damaging Het
Cir1 T C 2: 73,142,867 (GRCm39) probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Clec4d T A 6: 123,245,072 (GRCm39) H117Q probably damaging Het
Cntnap2 A T 6: 45,037,251 (GRCm39) R10W possibly damaging Het
Coro6 A G 11: 77,360,025 (GRCm39) E362G possibly damaging Het
Ctr9 T A 7: 110,634,578 (GRCm39) C196S probably benign Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dnah11 A G 12: 118,084,279 (GRCm39) F1242L probably benign Het
Dnah2 A G 11: 69,348,868 (GRCm39) W2534R probably damaging Het
Dph7 T C 2: 24,853,143 (GRCm39) S86P possibly damaging Het
Dpp9 A C 17: 56,505,970 (GRCm39) probably null Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Eml4 T G 17: 83,717,459 (GRCm39) D10E probably damaging Het
Enpp1 A T 10: 24,555,146 (GRCm39) C67S probably null Het
Epn1 A G 7: 5,093,012 (GRCm39) D108G probably damaging Het
Eps15 A G 4: 109,200,387 (GRCm39) Y2C probably damaging Het
Fam135b C T 15: 71,335,920 (GRCm39) V425I probably benign Het
Frem2 G A 3: 53,443,240 (GRCm39) A2508V probably benign Het
Fzd3 T A 14: 65,473,193 (GRCm39) M192L possibly damaging Het
Gls C T 1: 52,271,947 (GRCm39) A69T probably damaging Het
Gm10051 T A 5: 133,504,113 (GRCm39) noncoding transcript Het
Gm9271 A G 7: 39,013,346 (GRCm39) noncoding transcript Het
Gramd1b T C 9: 40,227,128 (GRCm39) probably null Het
Gvin-ps6 G A 7: 106,022,782 (GRCm39) noncoding transcript Het
H2-T23 A T 17: 36,343,016 (GRCm39) probably benign Het
H2-T5 T A 17: 36,478,448 (GRCm39) I195F probably damaging Het
Hmbox1 G A 14: 65,134,483 (GRCm39) T39I probably damaging Het
Hmx1 A G 5: 35,549,115 (GRCm39) E136G probably damaging Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A G 8: 111,173,071 (GRCm39) N918S probably benign Het
Igkv5-37 T A 6: 69,940,306 (GRCm39) S113C probably damaging Het
Il36rn T C 2: 24,167,503 (GRCm39) probably benign Het
Mab21l4 A C 1: 93,083,890 (GRCm39) M189R probably benign Het
Marco G T 1: 120,422,499 (GRCm39) T61K probably damaging Het
Med1 T A 11: 98,071,090 (GRCm39) R86* probably null Het
Mertk A G 2: 128,593,914 (GRCm39) Y306C probably damaging Het
Mgat4c T C 10: 102,224,265 (GRCm39) F160L probably damaging Het
Midn A T 10: 79,987,238 (GRCm39) E88V probably null Het
Muc4 G A 16: 32,596,277 (GRCm39) R3163H possibly damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nhlrc4 T C 17: 26,162,577 (GRCm39) T57A probably benign Het
Nlrp1a T C 11: 71,004,466 (GRCm39) probably null Het
Npffr2 A T 5: 89,730,879 (GRCm39) K270* probably null Het
Or10a3 T G 7: 108,480,689 (GRCm39) E41D probably benign Het
Or2b6 T A 13: 21,823,340 (GRCm39) M118L possibly damaging Het
Or51e1 T A 7: 102,359,378 (GRCm39) I304N probably damaging Het
Or8g26 T A 9: 39,095,664 (GRCm39) Y60* probably null Het
Or8k40 C T 2: 86,584,155 (GRCm39) C309Y probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pabpc4l C G 3: 46,400,570 (GRCm39) G358A possibly damaging Het
Pabpc4l C T 3: 46,400,579 (GRCm39) R355H probably benign Het
Parp1 T C 1: 180,417,033 (GRCm39) S606P probably damaging Het
Pkhd1 A G 1: 20,594,354 (GRCm39) V1253A probably benign Het
Psg29 G A 7: 16,942,458 (GRCm39) R153H probably benign Het
Rbm25 A G 12: 83,691,181 (GRCm39) M58V possibly damaging Het
Rbm28 T C 6: 29,125,353 (GRCm39) probably benign Het
Ryr2 A G 13: 11,671,933 (GRCm39) S3436P possibly damaging Het
Slc3a1 A G 17: 85,354,181 (GRCm39) I335V probably benign Het
Slc4a4 T C 5: 89,373,753 (GRCm39) F953S probably damaging Het
Spata20 A G 11: 94,375,404 (GRCm39) I130T possibly damaging Het
Spata31h1 T C 10: 82,119,481 (GRCm39) T4510A possibly damaging Het
Srcap T C 7: 127,148,471 (GRCm39) S1879P probably damaging Het
St18 G C 1: 6,887,828 (GRCm39) V466L probably benign Het
Stard3nl A T 13: 19,551,948 (GRCm39) M166K probably benign Het
Stard3nl G A 13: 19,560,736 (GRCm39) T13M probably damaging Het
Stil A G 4: 114,863,979 (GRCm39) T74A probably benign Het
Syt6 T G 3: 103,532,972 (GRCm39) M367R probably damaging Het
Tacc1 T C 8: 25,672,581 (GRCm39) T125A possibly damaging Het
Tbc1d8 G A 1: 39,441,959 (GRCm39) T211I possibly damaging Het
Tcaf1 A G 6: 42,663,809 (GRCm39) S24P probably benign Het
Trim75 T G 8: 65,435,199 (GRCm39) Y417S probably damaging Het
Ttll12 T C 15: 83,464,321 (GRCm39) Y503C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Zfp593 T C 4: 133,972,077 (GRCm39) probably benign Het
Zfp956 T C 6: 47,939,476 (GRCm39) S175P 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
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
Predicted Primers PCR Primer
(F):5'- GAATCAGTGGTATTCTAAATGGAAGCC -3'
(R):5'- CTGTACAGGTTTGATGCCCCAG -3'

Sequencing Primer
(F):5'- AGCCAATATAGTAATTTCTGAAGACG -3'
(R):5'- CCAGCATAGGGGGATGTTAG -3'
Posted On 2015-11-11