Incidental Mutation 'R2570:Cyp2c50'
ID 252456
Institutional Source Beutler Lab
Gene Symbol Cyp2c50
Ensembl Gene ENSMUSG00000054827
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 50
Synonyms
MMRRC Submission 040428-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2570 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 40078132-40102394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 40078764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Aspartic acid at position 90 (H90D)
Ref Sequence ENSEMBL: ENSMUSP00000079065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068094] [ENSMUST00000080171]
AlphaFold Q91X77
Predicted Effect probably benign
Transcript: ENSMUST00000068094
AA Change: H90D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827
AA Change: H90D

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 225 3.7e-54 PFAM
Pfam:p450 213 428 6.8e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080171
AA Change: H90D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827
AA Change: H90D

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 487 1.2e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124391
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,768,267 (GRCm39) N763I probably damaging Het
Actr8 T C 14: 29,709,239 (GRCm39) V281A probably damaging Het
Adam1b A T 5: 121,639,811 (GRCm39) N411K probably damaging Het
Adamdec1 T A 14: 68,816,657 (GRCm39) Q77L probably damaging Het
Adgre4 T A 17: 56,085,878 (GRCm39) F59Y possibly damaging Het
Akr1c18 T C 13: 4,192,163 (GRCm39) N178S probably benign Het
Aldh1a7 T A 19: 20,677,320 (GRCm39) T434S probably benign Het
Bcl10 T A 3: 145,638,785 (GRCm39) N142K probably benign Het
C1qc T C 4: 136,617,402 (GRCm39) I231M probably benign Het
Cacna1b A T 2: 24,496,649 (GRCm39) L2307* probably null Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Cdc42bpa G A 1: 179,977,742 (GRCm39) R1518Q possibly damaging Het
Cdk12 T G 11: 98,094,618 (GRCm39) M142R possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cspg4b C T 13: 113,455,121 (GRCm39) T389I probably benign Het
Dach1 A G 14: 98,138,847 (GRCm39) M480T probably benign Het
Dennd1a A T 2: 37,734,795 (GRCm39) F57L probably damaging Het
Dhcr24 T C 4: 106,443,029 (GRCm39) F355L probably benign Het
Drc1 A G 5: 30,512,609 (GRCm39) R339G probably damaging Het
Efcab3 T A 11: 104,624,490 (GRCm39) S840R probably damaging Het
Efna5 A T 17: 63,188,023 (GRCm39) Y35N probably benign Het
Ehmt1 A G 2: 24,705,753 (GRCm39) V811A probably damaging Het
Fam135a A T 1: 24,061,045 (GRCm39) V1114E probably damaging Het
Frmd8 C A 19: 5,924,740 (GRCm39) R28L probably damaging Het
Gm9936 A G 5: 114,995,605 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Itgal T C 7: 126,913,268 (GRCm39) F622L probably damaging Het
Kalrn C T 16: 34,130,865 (GRCm39) E451K probably damaging Het
Kat2a A T 11: 100,601,648 (GRCm39) F256I probably damaging Het
Lama4 A T 10: 38,951,354 (GRCm39) D1033V possibly damaging Het
Lama4 T A 10: 38,982,043 (GRCm39) D1757E probably damaging Het
Laptm5 T C 4: 130,659,358 (GRCm39) Y212H probably damaging Het
Lsm10 T C 4: 125,991,716 (GRCm39) L24P probably damaging Het
Mtcl3 A T 10: 29,022,761 (GRCm39) Q36L possibly damaging Het
Mtfp1 T C 11: 4,044,504 (GRCm39) E27G probably damaging Het
Ncaph2 C A 15: 89,254,678 (GRCm39) D399E probably benign Het
Ncor2 T C 5: 125,105,864 (GRCm39) probably null Het
Nek9 A C 12: 85,379,320 (GRCm39) Y195* probably null Het
Npas1 T C 7: 16,208,628 (GRCm39) D83G probably damaging Het
Nrsn2 A T 2: 152,211,741 (GRCm39) F97I possibly damaging Het
Oas1c T C 5: 120,943,503 (GRCm39) N10S probably benign Het
Or2ag12 A G 7: 106,276,874 (GRCm39) I273T probably benign Het
Or55b10 T C 7: 102,143,106 (GRCm39) N292S probably damaging Het
Or7e165 T A 9: 19,695,305 (GRCm39) L292Q probably damaging Het
Pcdha4 A T 18: 37,086,665 (GRCm39) T283S probably benign Het
Pdk1 A C 2: 71,703,904 (GRCm39) D64A possibly damaging Het
Pramel17 T C 4: 101,694,443 (GRCm39) T147A probably benign Het
Ptpdc1 C T 13: 48,739,539 (GRCm39) A631T probably benign Het
Rasal2 G T 1: 156,988,870 (GRCm39) A660E possibly damaging Het
Sgpp2 T A 1: 78,336,787 (GRCm39) V55E possibly damaging Het
Shank2 A T 7: 143,622,507 (GRCm39) I214F probably damaging Het
Slfn14 T C 11: 83,174,433 (GRCm39) N186S probably benign Het
Sptbn5 A T 2: 119,879,121 (GRCm39) noncoding transcript Het
Stradb C T 1: 59,027,743 (GRCm39) T91I probably damaging Het
Sulf2 T C 2: 165,927,721 (GRCm39) I359V probably benign Het
Tbl3 A T 17: 24,922,290 (GRCm39) M405K possibly damaging Het
Tecta G T 9: 42,243,848 (GRCm39) D2001E probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgfbi T A 13: 56,786,521 (GRCm39) probably null Het
Tmem132a A T 19: 10,837,106 (GRCm39) L612Q probably null Het
Tnf T C 17: 35,419,476 (GRCm39) N102S probably damaging Het
Trib3 A T 2: 152,185,156 (GRCm39) V31D probably benign Het
Ube2q2 T A 9: 55,099,140 (GRCm39) F248L probably benign Het
Usf3 T C 16: 44,036,744 (GRCm39) V408A probably benign Het
Vmn1r159 T C 7: 22,542,307 (GRCm39) M242V probably benign Het
Vmn2r105 A T 17: 20,447,585 (GRCm39) L413H probably damaging Het
Zbtb2 T G 10: 4,318,673 (GRCm39) N451T probably damaging Het
Zfp593 C A 4: 133,972,869 (GRCm39) probably benign Het
Other mutations in Cyp2c50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Cyp2c50 APN 19 40,080,728 (GRCm39) missense probably benign 0.12
IGL01463:Cyp2c50 APN 19 40,079,422 (GRCm39) missense probably damaging 1.00
IGL01669:Cyp2c50 APN 19 40,086,495 (GRCm39) missense probably damaging 1.00
IGL02008:Cyp2c50 APN 19 40,079,543 (GRCm39) nonsense probably null
IGL02331:Cyp2c50 APN 19 40,079,387 (GRCm39) critical splice acceptor site probably null
IGL02830:Cyp2c50 APN 19 40,086,500 (GRCm39) missense probably benign 0.00
R0115:Cyp2c50 UTSW 19 40,080,837 (GRCm39) splice site probably benign
R1666:Cyp2c50 UTSW 19 40,079,499 (GRCm39) missense probably benign
R1668:Cyp2c50 UTSW 19 40,079,499 (GRCm39) missense probably benign
R1679:Cyp2c50 UTSW 19 40,099,859 (GRCm39) missense possibly damaging 0.93
R2425:Cyp2c50 UTSW 19 40,078,292 (GRCm39) missense probably benign 0.20
R2509:Cyp2c50 UTSW 19 40,079,013 (GRCm39) missense probably benign
R3040:Cyp2c50 UTSW 19 40,086,570 (GRCm39) missense probably benign 0.02
R3983:Cyp2c50 UTSW 19 40,101,962 (GRCm39) missense possibly damaging 0.64
R4425:Cyp2c50 UTSW 19 40,079,136 (GRCm39) missense possibly damaging 0.94
R4484:Cyp2c50 UTSW 19 40,079,083 (GRCm39) missense probably damaging 1.00
R4520:Cyp2c50 UTSW 19 40,079,133 (GRCm39) missense probably benign 0.02
R4820:Cyp2c50 UTSW 19 40,102,024 (GRCm39) missense probably damaging 1.00
R4978:Cyp2c50 UTSW 19 40,086,501 (GRCm39) missense probably damaging 1.00
R5335:Cyp2c50 UTSW 19 40,079,060 (GRCm39) missense probably benign 0.00
R5807:Cyp2c50 UTSW 19 40,101,944 (GRCm39) missense probably damaging 1.00
R5955:Cyp2c50 UTSW 19 40,079,387 (GRCm39) critical splice acceptor site probably null
R6553:Cyp2c50 UTSW 19 40,079,046 (GRCm39) missense probably benign 0.41
R6560:Cyp2c50 UTSW 19 40,085,299 (GRCm39) missense probably benign 0.03
R7241:Cyp2c50 UTSW 19 40,079,012 (GRCm39) missense probably benign
R7389:Cyp2c50 UTSW 19 40,079,107 (GRCm39) missense probably benign 0.01
R7511:Cyp2c50 UTSW 19 40,080,634 (GRCm39) splice site probably null
R9327:Cyp2c50 UTSW 19 40,079,010 (GRCm39) missense probably benign 0.01
R9643:Cyp2c50 UTSW 19 40,086,512 (GRCm39) missense probably damaging 1.00
RF008:Cyp2c50 UTSW 19 40,078,268 (GRCm39) missense probably damaging 0.98
Z1088:Cyp2c50 UTSW 19 40,086,399 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- TGAGCAACGCTTCAGGTTG -3'
(R):5'- TGGTGGCTGCCATAGAATCAC -3'

Sequencing Primer
(F):5'- GGTTGAAGAACACTTATGTCATTGC -3'
(R):5'- GTGGCTGCCATAGAATCACAAACTG -3'
Posted On 2014-12-04