Incidental Mutation 'R6560:Cyp2c50'
ID 522048
Institutional Source Beutler Lab
Gene Symbol Cyp2c50
Ensembl Gene ENSMUSG00000054827
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 50
Synonyms
MMRRC Submission 044684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6560 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 40078132-40102394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40085299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 320 (T320A)
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: T261A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827
AA Change: T261A

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: T320A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827
AA Change: T320A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,843,230 (GRCm39) L1235Q probably damaging Het
Acin1 T C 14: 54,916,290 (GRCm39) T174A probably benign Het
Adamtsl1 G A 4: 86,255,130 (GRCm39) R733H probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Arsk A T 13: 76,223,105 (GRCm39) I164N probably benign Het
Bbs5 T A 2: 69,487,300 (GRCm39) N194K probably damaging Het
Bicra T C 7: 15,723,119 (GRCm39) T133A possibly damaging Het
Card6 G A 15: 5,128,367 (GRCm39) P1010S probably damaging Het
Ccdc18 T A 5: 108,339,790 (GRCm39) N778K probably benign Het
Cept1 T C 3: 106,412,594 (GRCm39) I240V possibly damaging Het
Crip3 A G 17: 46,741,962 (GRCm39) R150G probably damaging Het
Dio2 G C 12: 90,696,607 (GRCm39) S127* probably null Het
Dnai3 T C 3: 145,801,161 (GRCm39) E99G possibly damaging Het
Dscam T C 16: 96,626,935 (GRCm39) S325G probably benign Het
Exosc4 A G 15: 76,211,813 (GRCm39) I41V probably benign Het
Glb1l3 C T 9: 26,739,720 (GRCm39) probably null Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm3072 T A 14: 41,345,510 (GRCm39) D89V unknown Het
Gosr2 T C 11: 103,577,508 (GRCm39) H79R probably damaging Het
Has2 T A 15: 56,531,660 (GRCm39) T352S probably damaging Het
Insig1 T A 5: 28,276,531 (GRCm39) C32* probably null Het
Klf9 A G 19: 23,119,314 (GRCm39) S66G probably damaging Het
Mfn1 T C 3: 32,623,665 (GRCm39) I263T probably damaging Het
Myl2 G A 5: 122,240,834 (GRCm39) G38R probably null Het
Negr1 A G 3: 157,018,494 (GRCm39) T332A probably benign Het
Neo1 A G 9: 58,787,884 (GRCm39) S1417P possibly damaging Het
Or52ab4 T C 7: 102,987,945 (GRCm39) F228S probably benign Het
Or7e168 G A 9: 19,720,412 (GRCm39) S266N probably benign Het
Pcgf3 C A 5: 108,621,768 (GRCm39) H35Q probably damaging Het
Plppr5 A G 3: 117,465,639 (GRCm39) I297V probably benign Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Prx A T 7: 27,214,746 (GRCm39) Q85H probably damaging Het
Tex14 T G 11: 87,388,688 (GRCm39) M305R possibly damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Zfp619 G A 7: 39,186,954 (GRCm39) E995K probably damaging Het
Zfp90 A G 8: 107,142,379 (GRCm39) R4G probably damaging 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
R2570:Cyp2c50 UTSW 19 40,078,764 (GRCm39) missense probably benign 0.01
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
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'- TGTTGGCCACAAAATGAAGTTG -3'
(R):5'- CTGGGAACTGAGAACTCATAGTC -3'

Sequencing Primer
(F):5'- GCTTGAACACCTGGCAAT -3'
(R):5'- GGGAACTGAGAACTCATAGTCTCTAC -3'
Posted On 2018-06-06