Incidental Mutation 'R0018:Cyp2b13'
ID 19070
Institutional Source Beutler Lab
Gene Symbol Cyp2b13
Ensembl Gene ENSMUSG00000040583
Gene Name cytochrome P450, family 2, subfamily b, polypeptide 13
Synonyms phenobarbital inducible, type c
MMRRC Submission 038313-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0018 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 25760922-25795622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25785375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 248 (R248H)
Ref Sequence ENSEMBL: ENSMUSP00000005669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005669]
AlphaFold A6H6J2
Predicted Effect probably benign
Transcript: ENSMUST00000005669
AA Change: R248H

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: R248H

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:p450 31 488 9.8e-150 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 82.8%
  • 3x: 76.3%
  • 10x: 59.3%
  • 20x: 41.5%
Validation Efficiency 90% (80/89)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b4 T A 1: 133,645,609 (GRCm39) I982F probably damaging Het
BC024139 G A 15: 76,005,087 (GRCm39) Q592* probably null Het
Capn7 T A 14: 31,076,069 (GRCm39) C290* probably null Het
Celsr1 T A 15: 85,915,243 (GRCm39) D910V possibly damaging Het
Cpne2 T A 8: 95,282,681 (GRCm39) C59S possibly damaging Het
Dennd1a T A 2: 37,748,472 (GRCm39) T336S possibly damaging Het
Drc7 A G 8: 95,800,862 (GRCm39) Y628C probably damaging Het
Dse A G 10: 34,029,464 (GRCm39) V542A probably benign Het
Gria4 A G 9: 4,432,843 (GRCm39) L780P possibly damaging Het
Gsx2 A G 5: 75,237,828 (GRCm39) K260R probably damaging Het
Kat6a A G 8: 23,419,289 (GRCm39) D684G possibly damaging Het
Kif27 T G 13: 58,435,867 (GRCm39) I1309L probably benign Het
Me2 A T 18: 73,924,923 (GRCm39) F265I possibly damaging Het
Myo9a A T 9: 59,779,007 (GRCm39) T1588S probably benign Het
Neu4 T A 1: 93,953,060 (GRCm39) D476E probably benign Het
Nlrp9c T A 7: 26,071,423 (GRCm39) Q895L possibly damaging Het
Nudt8 C T 19: 4,051,152 (GRCm39) probably benign Het
Ppfia2 A G 10: 106,678,647 (GRCm39) probably benign Het
Prkdc T C 16: 15,544,406 (GRCm39) Y1799H probably benign Het
Psmc1 T C 12: 100,082,951 (GRCm39) probably benign Het
Pus3 A G 9: 35,477,920 (GRCm39) D384G probably benign Het
Rasa2 A G 9: 96,454,016 (GRCm39) S307P probably damaging Het
Rbpms2 A G 9: 65,558,360 (GRCm39) D142G probably damaging Het
Slc13a5 T C 11: 72,157,301 (GRCm39) I31V probably benign Het
Slc15a4 A T 5: 127,679,074 (GRCm39) I422N probably damaging Het
Slc26a6 G T 9: 108,736,121 (GRCm39) probably null Het
Ufm1 A T 3: 53,766,617 (GRCm39) I79N probably benign Het
Xdh C T 17: 74,232,020 (GRCm39) R230H probably benign Het
Zfp418 A T 7: 7,185,449 (GRCm39) S471C probably benign Het
Other mutations in Cyp2b13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Cyp2b13 APN 7 25,781,152 (GRCm39) missense probably benign 0.26
IGL01134:Cyp2b13 APN 7 25,781,125 (GRCm39) missense probably damaging 1.00
IGL02386:Cyp2b13 APN 7 25,785,438 (GRCm39) missense probably damaging 1.00
IGL02531:Cyp2b13 APN 7 25,761,030 (GRCm39) missense possibly damaging 0.55
IGL02960:Cyp2b13 APN 7 25,761,101 (GRCm39) missense probably benign 0.33
R0018:Cyp2b13 UTSW 7 25,785,375 (GRCm39) missense probably benign 0.30
R0103:Cyp2b13 UTSW 7 25,788,135 (GRCm39) missense probably damaging 1.00
R0121:Cyp2b13 UTSW 7 25,786,010 (GRCm39) missense probably benign
R0392:Cyp2b13 UTSW 7 25,785,308 (GRCm39) missense probably benign 0.01
R0540:Cyp2b13 UTSW 7 25,781,136 (GRCm39) missense probably benign 0.07
R1887:Cyp2b13 UTSW 7 25,788,075 (GRCm39) missense probably damaging 1.00
R2416:Cyp2b13 UTSW 7 25,795,246 (GRCm39) makesense probably null
R2879:Cyp2b13 UTSW 7 25,785,456 (GRCm39) critical splice donor site probably null
R4654:Cyp2b13 UTSW 7 25,761,072 (GRCm39) missense probably damaging 1.00
R4735:Cyp2b13 UTSW 7 25,787,720 (GRCm39) missense probably benign
R4969:Cyp2b13 UTSW 7 25,780,413 (GRCm39) missense probably damaging 0.98
R5174:Cyp2b13 UTSW 7 25,788,118 (GRCm39) missense possibly damaging 0.68
R6243:Cyp2b13 UTSW 7 25,761,044 (GRCm39) missense probably damaging 1.00
R6616:Cyp2b13 UTSW 7 25,785,306 (GRCm39) missense probably benign 0.04
R6647:Cyp2b13 UTSW 7 25,785,324 (GRCm39) missense possibly damaging 0.52
R6766:Cyp2b13 UTSW 7 25,781,236 (GRCm39) critical splice donor site probably null
R6844:Cyp2b13 UTSW 7 25,781,122 (GRCm39) missense probably damaging 1.00
R7431:Cyp2b13 UTSW 7 25,760,976 (GRCm39) missense probably damaging 0.96
R7593:Cyp2b13 UTSW 7 25,780,416 (GRCm39) missense possibly damaging 0.64
R7719:Cyp2b13 UTSW 7 25,795,095 (GRCm39) missense probably damaging 1.00
R7857:Cyp2b13 UTSW 7 25,788,153 (GRCm39) missense possibly damaging 0.94
R8406:Cyp2b13 UTSW 7 25,781,223 (GRCm39) missense probably benign 0.01
R9418:Cyp2b13 UTSW 7 25,761,110 (GRCm39) missense probably benign 0.36
R9557:Cyp2b13 UTSW 7 25,780,123 (GRCm39) missense probably benign 0.05
Posted On 2013-03-25