Incidental Mutation 'R2496:Cyp2d9'
ID 251229
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 040410-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R2496 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82336578-82341028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82336680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 10 (W10R)
Ref Sequence ENSEMBL: ENSMUSP00000155496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089129] [ENSMUST00000229313] [ENSMUST00000229473] [ENSMUST00000229793] [ENSMUST00000230191] [ENSMUST00000231136] [ENSMUST00000230024] [ENSMUST00000230000]
AlphaFold P11714
Predicted Effect possibly damaging
Transcript: ENSMUST00000089129
AA Change: W10R

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: W10R

DomainStartEndE-ValueType
Pfam:p450 37 497 1.7e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229181
Predicted Effect possibly damaging
Transcript: ENSMUST00000229313
AA Change: W10R

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000229473
Predicted Effect probably benign
Transcript: ENSMUST00000229793
Predicted Effect probably damaging
Transcript: ENSMUST00000230191
AA Change: W10R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231136
AA Change: W10R

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000230024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231044
Predicted Effect probably benign
Transcript: ENSMUST00000230000
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,761,065 (GRCm39) W1926R probably damaging Het
Arhgef25 T C 10: 127,023,063 (GRCm39) T106A probably benign Het
Baz1b G A 5: 135,239,629 (GRCm39) R243Q probably damaging Het
Cdhr3 A G 12: 33,099,068 (GRCm39) Y508H probably benign Het
Dmxl1 A G 18: 50,013,858 (GRCm39) T1549A possibly damaging Het
Dnah8 A T 17: 31,070,705 (GRCm39) R4464W probably damaging Het
Dpp4 G A 2: 62,217,477 (GRCm39) T40M possibly damaging Het
Dync1h1 A G 12: 110,607,654 (GRCm39) H2723R possibly damaging Het
E2f3 C T 13: 30,095,289 (GRCm39) S333N probably damaging Het
Fam120a G T 13: 49,121,069 (GRCm39) A79E probably damaging Het
Fat3 A G 9: 15,877,399 (GRCm39) S3405P probably benign Het
Gaa T C 11: 119,174,531 (GRCm39) S793P possibly damaging Het
Galc A C 12: 98,193,540 (GRCm39) F350V probably damaging Het
Garre1 A G 7: 33,955,916 (GRCm39) V391A possibly damaging Het
Gm136 A G 4: 34,746,541 (GRCm39) C157R probably damaging Het
Gm3327 A C 14: 44,363,720 (GRCm39) N108T unknown Het
H2-M10.2 A G 17: 36,596,771 (GRCm39) Y102H possibly damaging Het
Hmcn1 A T 1: 150,490,972 (GRCm39) D4192E probably benign Het
Hpse2 A C 19: 43,001,482 (GRCm39) probably null Het
Idh3a T C 9: 54,510,633 (GRCm39) V362A probably benign Het
Kdm7a A T 6: 39,147,697 (GRCm39) probably null Het
Krt6b A G 15: 101,588,216 (GRCm39) V148A probably damaging Het
Lrba G A 3: 86,439,394 (GRCm39) R1977H probably damaging Het
Magi2 A T 5: 19,883,750 (GRCm39) Y134F probably benign Het
Mamdc4 T C 2: 25,455,914 (GRCm39) Y801C probably damaging Het
Maml1 T C 11: 50,149,371 (GRCm39) T790A probably benign Het
Map3k19 A G 1: 127,750,823 (GRCm39) Y843H probably damaging Het
Mdfic A T 6: 15,741,041 (GRCm39) H45L possibly damaging Het
Mlx C T 11: 100,979,080 (GRCm39) T87I probably benign Het
Mms22l T A 4: 24,521,269 (GRCm39) I382K probably benign Het
Mtf1 A G 4: 124,732,697 (GRCm39) N585S probably benign Het
Mylk2 C T 2: 152,755,588 (GRCm39) P251S probably damaging Het
Myorg A G 4: 41,499,165 (GRCm39) V155A probably benign Het
Nox4 A T 7: 86,955,958 (GRCm39) T157S probably benign Het
Oas2 A T 5: 120,886,682 (GRCm39) H161Q probably benign Het
Obscn A T 11: 58,994,268 (GRCm39) V1563E probably damaging Het
Or2n1b T C 17: 38,460,322 (GRCm39) V281A possibly damaging Het
Or55b3 T C 7: 102,126,354 (GRCm39) K241R probably damaging Het
Or6c203 A C 10: 129,009,966 (GRCm39) F308C probably benign Het
Pcdhb11 T A 18: 37,555,375 (GRCm39) I235N probably benign Het
Pcsk5 A T 19: 17,443,522 (GRCm39) C1212* probably null Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rsph4a A T 10: 33,784,094 (GRCm39) I239L possibly damaging Het
Setx A G 2: 29,034,813 (GRCm39) I433V probably benign Het
Smyd4 T C 11: 75,281,927 (GRCm39) S467P probably benign Het
Snai2 A T 16: 14,523,866 (GRCm39) H10L possibly damaging Het
Snw1 T C 12: 87,497,589 (GRCm39) I467V probably benign Het
Stab1 A T 14: 30,883,420 (GRCm39) C301S probably damaging Het
Tax1bp1 T A 6: 52,735,342 (GRCm39) probably null Het
Tmem70 C A 1: 16,735,575 (GRCm39) P15Q probably benign Het
Tmem87a T C 2: 120,224,859 (GRCm39) E134G probably damaging Het
Ubr4 C T 4: 139,200,516 (GRCm39) probably benign Het
Ugt2b37 C T 5: 87,402,569 (GRCm39) V21M probably damaging Het
Ugt2b38 T A 5: 87,569,551 (GRCm39) I259F probably damaging Het
Zfp804a T A 2: 82,066,188 (GRCm39) L53Q probably damaging 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
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
R6924:Cyp2d9 UTSW 15 82,339,413 (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'- AACACATATTTGGGGCAGGAC -3'
(R):5'- AGTATGTGCCGCTGTAGATAC -3'

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