Incidental Mutation 'R6924:Cyp2d9'
ID 539812
Institutional Source Beutler Lab
Gene Symbol Cyp2d9
Ensembl Gene ENSMUSG00000068086
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 9
Synonyms testosterone 16alpha-hydroxylase, P450-2D, Cyp2d
MMRRC Submission 045042-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6924 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 82336578-82341028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 82339413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 272 (R272G)
Ref Sequence ENSEMBL: ENSMUSP00000155496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089129] [ENSMUST00000229313] [ENSMUST00000229473] [ENSMUST00000229793] [ENSMUST00000230000] [ENSMUST00000230024] [ENSMUST00000230191] [ENSMUST00000231136]
AlphaFold P11714
Predicted Effect probably benign
Transcript: ENSMUST00000089129
AA Change: R272G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: R272G

DomainStartEndE-ValueType
Pfam:p450 37 497 1.7e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229313
Predicted Effect probably benign
Transcript: ENSMUST00000229473
Predicted Effect probably benign
Transcript: ENSMUST00000229793
Predicted Effect possibly damaging
Transcript: ENSMUST00000230000
AA Change: R149G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230024
AA Change: R61G

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000230191
AA Change: R272G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231136
AA Change: R242G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A C 4: 39,450,884 (GRCm39) H30P probably damaging Het
Abhd6 A T 14: 8,049,850 (GRCm38) H213L possibly damaging Het
Adam22 T A 5: 8,417,322 (GRCm39) N40I possibly damaging Het
Ankrd42 A G 7: 92,231,224 (GRCm39) probably benign Het
Arhgap40 C T 2: 158,369,066 (GRCm39) R63C probably benign Het
Atf7ip T G 6: 136,536,755 (GRCm39) probably null Het
Atg7 T C 6: 114,686,172 (GRCm39) probably null Het
Car6 A C 4: 150,273,713 (GRCm39) probably null Het
Carmil1 A T 13: 24,259,667 (GRCm39) C302* probably null Het
Ccdc117 A T 11: 5,484,255 (GRCm39) M195K probably benign Het
Cep95 T C 11: 106,702,023 (GRCm39) M383T probably damaging Het
Col20a1 A G 2: 180,638,643 (GRCm39) E419G probably damaging Het
Dhx57 A T 17: 80,546,244 (GRCm39) M1380K possibly damaging Het
Dnah14 A G 1: 181,455,517 (GRCm39) S881G probably benign Het
Fcgbp T A 7: 27,793,248 (GRCm39) I1084N probably benign Het
Fgf17 A T 14: 70,878,981 (GRCm39) C21* probably null Het
Gemin4 A G 11: 76,103,162 (GRCm39) L533P probably damaging Het
Gkn3 T C 6: 87,365,784 (GRCm39) R12G probably benign Het
Gpr161 G T 1: 165,149,188 (GRCm39) R519L possibly damaging Het
Grin2a A G 16: 9,481,092 (GRCm39) V535A possibly damaging Het
Gys1 G A 7: 45,093,059 (GRCm39) probably null Het
Hfm1 C T 5: 106,998,276 (GRCm39) probably null Het
Hmcn2 T A 2: 31,240,517 (GRCm39) probably null Het
Hnrnpul2 T C 19: 8,808,873 (GRCm39) Y738H unknown Het
Hycc1 T C 5: 24,191,133 (GRCm39) probably null Het
Igsf23 A G 7: 19,675,684 (GRCm39) S141P possibly damaging Het
Lamc3 A C 2: 31,828,081 (GRCm39) M1423L probably benign Het
Lcmt2 T C 2: 120,970,484 (GRCm39) T200A probably benign Het
Lgr4 T C 2: 109,842,784 (GRCm39) V899A probably damaging Het
Macf1 T A 4: 123,421,145 (GRCm39) R36S possibly damaging Het
Mrgprb8 A G 7: 48,038,871 (GRCm39) K181E possibly damaging Het
Muc2 G A 7: 141,284,077 (GRCm39) V786M possibly damaging Het
Nacc2 T C 2: 25,980,041 (GRCm39) T132A probably damaging Het
Nsmce2 T A 15: 59,250,774 (GRCm39) I15K probably damaging Het
Or10p22 T G 10: 128,825,960 (GRCm39) Y60D probably damaging Het
Or4k15c A G 14: 50,321,307 (GRCm39) I277T possibly damaging Het
Otoa A T 7: 120,730,724 (GRCm39) probably null Het
Otogl A G 10: 107,644,502 (GRCm39) I1248T probably damaging Het
Ppp1r17 T A 6: 56,003,007 (GRCm39) D32E probably damaging Het
Relt A C 7: 100,496,468 (GRCm39) V427G probably damaging Het
Ric1 T A 19: 29,546,788 (GRCm39) V256D probably damaging Het
Samhd1 T C 2: 156,951,403 (GRCm39) T445A probably benign Het
Sepsecs T C 5: 52,821,646 (GRCm39) I189V probably benign Het
Shroom3 T A 5: 93,112,262 (GRCm39) D1793E probably damaging Het
Sim1 C T 10: 50,784,635 (GRCm39) T137I probably benign Het
Stk17b A T 1: 53,800,218 (GRCm39) D253E possibly damaging Het
Stmnd1 T C 13: 46,452,969 (GRCm39) V215A probably benign Het
Tcl1 A G 12: 105,185,015 (GRCm39) L65P probably damaging Het
Tiam2 A C 17: 3,558,070 (GRCm39) K1231N probably damaging Het
Tm9sf3 T C 19: 41,206,717 (GRCm39) Y476C probably damaging Het
Trim63 T C 4: 134,048,572 (GRCm39) S194P probably damaging Het
Ugt1a10 T A 1: 87,983,379 (GRCm39) I59N probably damaging Het
Vmn2r65 A G 7: 84,613,198 (GRCm39) F7S probably benign Het
Zfp775 T A 6: 48,596,589 (GRCm39) H154Q probably damaging Het
Zfp804b C T 5: 6,819,902 (GRCm39) V1018I probably benign Het
Other mutations in Cyp2d9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cyp2d9 APN 15 82,339,295 (GRCm39) missense probably benign 0.05
IGL00587:Cyp2d9 APN 15 82,339,344 (GRCm39) missense possibly damaging 0.89
IGL00815:Cyp2d9 APN 15 82,340,576 (GRCm39) missense possibly damaging 0.94
IGL03023:Cyp2d9 APN 15 82,339,719 (GRCm39) missense probably damaging 0.99
IGL03410:Cyp2d9 APN 15 82,340,900 (GRCm39) missense probably benign 0.00
R0417:Cyp2d9 UTSW 15 82,340,152 (GRCm39) missense probably damaging 1.00
R0627:Cyp2d9 UTSW 15 82,339,991 (GRCm39) missense probably damaging 1.00
R1326:Cyp2d9 UTSW 15 82,339,357 (GRCm39) missense possibly damaging 0.50
R1501:Cyp2d9 UTSW 15 82,338,525 (GRCm39) nonsense probably null
R1893:Cyp2d9 UTSW 15 82,336,807 (GRCm39) missense probably damaging 0.97
R2496:Cyp2d9 UTSW 15 82,336,680 (GRCm39) missense probably damaging 1.00
R2519:Cyp2d9 UTSW 15 82,338,719 (GRCm39) splice site probably null
R3155:Cyp2d9 UTSW 15 82,336,843 (GRCm39) critical splice donor site probably null
R4691:Cyp2d9 UTSW 15 82,340,033 (GRCm39) missense probably damaging 1.00
R4727:Cyp2d9 UTSW 15 82,338,602 (GRCm39) start codon destroyed probably null 0.99
R4770:Cyp2d9 UTSW 15 82,336,774 (GRCm39) missense probably damaging 0.98
R5319:Cyp2d9 UTSW 15 82,338,256 (GRCm39) missense probably damaging 1.00
R5486:Cyp2d9 UTSW 15 82,336,779 (GRCm39) missense probably damaging 0.96
R5516:Cyp2d9 UTSW 15 82,338,528 (GRCm39) missense probably null 1.00
R5646:Cyp2d9 UTSW 15 82,336,665 (GRCm39) missense probably benign 0.01
R5898:Cyp2d9 UTSW 15 82,339,725 (GRCm39) missense probably benign 0.02
R6193:Cyp2d9 UTSW 15 82,336,728 (GRCm39) missense probably benign 0.01
R6288:Cyp2d9 UTSW 15 82,340,616 (GRCm39) missense probably damaging 1.00
R7524:Cyp2d9 UTSW 15 82,340,146 (GRCm39) missense probably damaging 1.00
R7525:Cyp2d9 UTSW 15 82,338,293 (GRCm39) missense possibly damaging 0.91
R7731:Cyp2d9 UTSW 15 82,339,633 (GRCm39) critical splice acceptor site probably null
R7889:Cyp2d9 UTSW 15 82,340,027 (GRCm39) missense probably damaging 0.97
R8353:Cyp2d9 UTSW 15 82,336,720 (GRCm39) missense probably damaging 0.99
R8682:Cyp2d9 UTSW 15 82,337,917 (GRCm39) missense probably damaging 1.00
R8709:Cyp2d9 UTSW 15 82,339,276 (GRCm39) missense probably benign 0.19
R9159:Cyp2d9 UTSW 15 82,338,572 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- GATTAACCTCTGAGACTTCCTATGTC -3'
(R):5'- TCAGGATTCCCTTTGGCCTG -3'

Sequencing Primer
(F):5'- GAGACTTCCTATGTCTCTCACAGG -3'
(R):5'- AGGAAGTCCCACATGGCCTC -3'
Posted On 2018-11-06