Incidental Mutation 'R3051:Cyp2a5'
ID 264946
Institutional Source Beutler Lab
Gene Symbol Cyp2a5
Ensembl Gene ENSMUSG00000005547
Gene Name cytochrome P450, family 2, subfamily a, polypeptide 5
Synonyms Coh
MMRRC Submission 040560-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R3051 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 26534764-26542689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26542410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 471 (I471V)
Ref Sequence ENSEMBL: ENSMUSP00000005685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005685] [ENSMUST00000168869] [ENSMUST00000169007]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000005685
AA Change: I471V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: I471V

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:p450 34 491 4e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165641
Predicted Effect probably benign
Transcript: ENSMUST00000168869
SMART Domains Protein: ENSMUSP00000130640
Gene: ENSMUSG00000005547

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
PDB:2PG7|D 25 60 9e-14 PDB
SCOP:d1jpza_ 30 60 6e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169007
SMART Domains Protein: ENSMUSP00000128865
Gene: ENSMUSG00000005547

DomainStartEndE-ValueType
Pfam:p450 1 116 1.1e-47 PFAM
Predicted Effect silent
Transcript: ENSMUST00000170631
SMART Domains Protein: ENSMUSP00000127829
Gene: ENSMUSG00000005547

DomainStartEndE-ValueType
Pfam:p450 1 59 2.9e-20 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (32/32)
MGI Phenotype PHENOTYPE: Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,974,374 (GRCm39) V330I probably benign Het
Akap6 T C 12: 52,933,816 (GRCm39) L436P probably damaging Het
Axin1 A G 17: 26,409,099 (GRCm39) T700A probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Ccdc178 T A 18: 22,268,188 (GRCm39) M100L probably benign Het
Ceacam20 T A 7: 19,710,110 (GRCm39) V378E probably benign Het
Cwf19l2 G A 9: 3,410,006 (GRCm39) R45H probably benign Het
Ddr2 T C 1: 169,816,024 (GRCm39) K561R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Ltf A G 9: 110,853,590 (GRCm39) D280G probably benign Het
Nlrc5 A G 8: 95,203,343 (GRCm39) E481G probably benign Het
Or1e30 A G 11: 73,678,060 (GRCm39) T99A probably benign Het
Pald1 G A 10: 61,182,542 (GRCm39) Q412* probably null Het
Ppp4r3c2 G A X: 88,797,709 (GRCm39) V514I probably damaging Het
Ptprd A G 4: 76,018,867 (GRCm39) Y649H probably damaging Het
R3hcc1l T G 19: 42,551,064 (GRCm39) Y20* probably null Het
Rbfox3 G T 11: 118,393,714 (GRCm39) A37D probably damaging Het
Rpa2 A G 4: 132,502,437 (GRCm39) probably null Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Slc6a7 G A 18: 61,142,589 (GRCm39) T41M probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Ten1 T C 11: 116,096,556 (GRCm39) F70S possibly damaging Het
Terf2 A C 8: 107,806,016 (GRCm39) L312R possibly damaging Het
Tktl1 A G X: 73,221,010 (GRCm39) T39A probably benign Het
Tmem51 A T 4: 141,759,335 (GRCm39) Y138N probably damaging Het
Trp53bp2 T C 1: 182,281,347 (GRCm39) F983L probably damaging Het
Trpm1 G A 7: 63,918,849 (GRCm39) E730K probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zfp345 T C 2: 150,316,772 (GRCm39) N12D probably benign Het
Other mutations in Cyp2a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01354:Cyp2a5 APN 7 26,536,528 (GRCm39) missense possibly damaging 0.82
IGL01744:Cyp2a5 APN 7 26,540,434 (GRCm39) missense probably damaging 1.00
IGL02155:Cyp2a5 APN 7 26,542,471 (GRCm39) missense probably benign 0.06
IGL03076:Cyp2a5 APN 7 26,535,299 (GRCm39) missense probably damaging 0.99
PIT4696001:Cyp2a5 UTSW 7 26,540,404 (GRCm39) missense probably benign 0.18
R0762:Cyp2a5 UTSW 7 26,538,298 (GRCm39) nonsense probably null
R0980:Cyp2a5 UTSW 7 26,538,431 (GRCm39) splice site probably null
R1078:Cyp2a5 UTSW 7 26,534,966 (GRCm39) missense probably benign 0.33
R1511:Cyp2a5 UTSW 7 26,535,361 (GRCm39) missense probably damaging 1.00
R1780:Cyp2a5 UTSW 7 26,541,301 (GRCm39) intron probably benign
R1803:Cyp2a5 UTSW 7 26,534,971 (GRCm39) splice site probably null
R1899:Cyp2a5 UTSW 7 26,538,458 (GRCm39) nonsense probably null
R1977:Cyp2a5 UTSW 7 26,535,347 (GRCm39) missense probably benign 0.15
R2215:Cyp2a5 UTSW 7 26,539,900 (GRCm39) missense probably damaging 1.00
R2258:Cyp2a5 UTSW 7 26,536,528 (GRCm39) missense possibly damaging 0.82
R3052:Cyp2a5 UTSW 7 26,542,410 (GRCm39) missense possibly damaging 0.77
R3053:Cyp2a5 UTSW 7 26,542,410 (GRCm39) missense possibly damaging 0.77
R4387:Cyp2a5 UTSW 7 26,540,479 (GRCm39) missense probably damaging 0.97
R4832:Cyp2a5 UTSW 7 26,534,970 (GRCm39) critical splice donor site probably null
R5054:Cyp2a5 UTSW 7 26,540,529 (GRCm39) missense probably damaging 1.00
R5622:Cyp2a5 UTSW 7 26,535,299 (GRCm39) missense probably damaging 1.00
R5867:Cyp2a5 UTSW 7 26,542,383 (GRCm39) missense probably benign 0.09
R5998:Cyp2a5 UTSW 7 26,536,578 (GRCm39) missense probably benign 0.00
R6186:Cyp2a5 UTSW 7 26,542,813 (GRCm39) unclassified probably benign
R7338:Cyp2a5 UTSW 7 26,542,372 (GRCm39) missense probably damaging 1.00
R7350:Cyp2a5 UTSW 7 26,536,208 (GRCm39) missense probably benign 0.37
R7536:Cyp2a5 UTSW 7 26,539,903 (GRCm39) missense probably damaging 1.00
R7722:Cyp2a5 UTSW 7 26,536,543 (GRCm39) missense probably benign 0.31
R7831:Cyp2a5 UTSW 7 26,534,940 (GRCm39) missense possibly damaging 0.71
R7983:Cyp2a5 UTSW 7 26,539,866 (GRCm39) missense probably benign 0.40
R8805:Cyp2a5 UTSW 7 26,540,530 (GRCm39) missense probably damaging 0.99
R9378:Cyp2a5 UTSW 7 26,539,879 (GRCm39) missense probably damaging 1.00
R9481:Cyp2a5 UTSW 7 26,540,511 (GRCm39) missense possibly damaging 0.95
R9620:Cyp2a5 UTSW 7 26,536,636 (GRCm39) missense possibly damaging 0.75
Z1088:Cyp2a5 UTSW 7 26,540,532 (GRCm39) missense probably damaging 1.00
Z1176:Cyp2a5 UTSW 7 26,536,199 (GRCm39) missense probably damaging 1.00
Z1176:Cyp2a5 UTSW 7 26,534,922 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCAGGGATTAGAGCTTTCC -3'
(R):5'- ATATCCTCTGCAAGTCTACTCTGTG -3'

Sequencing Primer
(F):5'- CTCAGGGATTAGAGCTTTCCTTAAAG -3'
(R):5'- GCAAGTCTACTCTGTGTCCTCTG -3'
Posted On 2015-02-05