Incidental Mutation 'R5646:Cyp2d9'
ID 441186
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 043294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R5646 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82336578-82341028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82336665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 5 (T5A)
Ref Sequence ENSEMBL: ENSMUSP00000155000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089129] [ENSMUST00000229313] [ENSMUST00000229473] [ENSMUST00000229793] [ENSMUST00000230191] [ENSMUST00000231136] [ENSMUST00000230024] [ENSMUST00000230000]
AlphaFold P11714
Predicted Effect probably benign
Transcript: ENSMUST00000089129
AA Change: T5A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: T5A

DomainStartEndE-ValueType
Pfam:p450 37 497 1.7e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229181
Predicted Effect probably benign
Transcript: ENSMUST00000229313
AA Change: T5A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000229473
Predicted Effect probably benign
Transcript: ENSMUST00000229793
Predicted Effect probably benign
Transcript: ENSMUST00000230191
AA Change: T5A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231136
AA Change: T5A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000230024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231044
Predicted Effect probably benign
Transcript: ENSMUST00000230000
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 C A 5: 34,788,024 (GRCm39) A691D probably benign Het
Agap3 C A 5: 24,688,395 (GRCm39) D394E probably benign Het
Arhgef11 T C 3: 87,591,793 (GRCm39) V59A possibly damaging Het
Atp2a1 A G 7: 126,052,277 (GRCm39) V402A probably benign Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Bsn A T 9: 107,987,631 (GRCm39) probably benign Het
Camk1 A G 6: 113,316,301 (GRCm39) V81A probably damaging Het
Cass4 T G 2: 172,258,165 (GRCm39) C54W probably damaging Het
Ccdc39 A T 3: 33,879,699 (GRCm39) F456L probably damaging Het
Cdc42bpa A G 1: 179,933,659 (GRCm39) E766G probably damaging Het
Cdcp2 T C 4: 106,962,339 (GRCm39) C171R probably damaging Het
Cdh9 G A 15: 16,823,371 (GRCm39) E118K probably damaging Het
Col4a2 G A 8: 11,491,281 (GRCm39) G1227R probably damaging Het
Dlg5 T A 14: 24,208,767 (GRCm39) D813V probably damaging Het
Dmtf1 G A 5: 9,174,515 (GRCm39) S405F possibly damaging Het
Drd2 A G 9: 49,316,212 (GRCm39) K324R probably benign Het
Ergic1 T C 17: 26,833,332 (GRCm39) S29P probably damaging Het
Fmnl1 A G 11: 103,087,338 (GRCm39) probably benign Het
Foxd2 C T 4: 114,765,832 (GRCm39) A63T unknown Het
Gfap T C 11: 102,782,282 (GRCm39) I409M probably benign Het
Gfpt1 A G 6: 87,019,981 (GRCm39) M1V probably null Het
H2-T23 C G 17: 36,342,695 (GRCm39) E148Q possibly damaging Het
Hip1 G A 5: 135,457,595 (GRCm39) R704W probably damaging Het
Kif19a A C 11: 114,670,480 (GRCm39) D130A probably damaging Het
Lin7b T C 7: 45,018,617 (GRCm39) D14G probably damaging Het
Meioc T A 11: 102,566,083 (GRCm39) N510K possibly damaging Het
Mettl5 C A 2: 69,711,663 (GRCm39) G68* probably null Het
Mitf A T 6: 97,990,655 (GRCm39) I184F probably damaging Het
Mmp9 T A 2: 164,790,970 (GRCm39) H119Q probably benign Het
Mycbp2 T A 14: 103,407,346 (GRCm39) H2768L probably benign Het
Myh2 A T 11: 67,079,638 (GRCm39) I1032F probably benign Het
Myo3b T C 2: 70,144,774 (GRCm39) I1110T probably damaging Het
Nde1 T C 16: 13,987,378 (GRCm39) F8L probably damaging Het
Or10aa3 C T 1: 173,878,853 (GRCm39) Q305* probably null Het
Or2a25 A G 6: 42,888,457 (GRCm39) probably null Het
Or2h2b-ps1 T C 17: 37,480,808 (GRCm39) I244V probably benign Het
Or4f47 T C 2: 111,973,028 (GRCm39) V246A possibly damaging Het
Or51r1 A C 7: 102,228,512 (GRCm39) Y270S possibly damaging Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c202 T C 10: 128,996,706 (GRCm39) D49G possibly damaging Het
Pcdhga8 A G 18: 37,859,823 (GRCm39) H293R probably benign Het
Pde7a A T 3: 19,287,937 (GRCm39) L244Q probably damaging Het
Pex14 T C 4: 149,045,910 (GRCm39) D340G probably benign Het
Pfkfb4 A T 9: 108,837,489 (GRCm39) I195F probably damaging Het
Pik3c2a C A 7: 116,005,186 (GRCm39) G361W probably damaging Het
Prkcg T A 7: 3,377,597 (GRCm39) M517K probably damaging Het
Prob1 A T 18: 35,787,167 (GRCm39) F362L probably benign Het
Rims4 C T 2: 163,705,937 (GRCm39) W232* probably null Het
Robo2 T C 16: 73,758,707 (GRCm39) D688G probably damaging Het
Sec24c C A 14: 20,729,641 (GRCm39) A73E probably benign Het
Slc15a3 A G 19: 10,820,574 (GRCm39) N64D probably benign Het
Smg1 A T 7: 117,811,782 (GRCm39) N65K probably benign Het
Spata31h1 A G 10: 82,119,610 (GRCm39) S4467P probably damaging Het
Sptb G T 12: 76,634,215 (GRCm39) D2165E probably benign Het
Sptbn5 A T 2: 119,879,292 (GRCm39) noncoding transcript Het
Syt12 A T 19: 4,506,569 (GRCm39) M192K possibly damaging Het
Tas2r107 A G 6: 131,636,671 (GRCm39) V126A probably benign Het
Thbs3 T C 3: 89,126,405 (GRCm39) L242P probably damaging Het
Timp2 A T 11: 118,208,358 (GRCm39) probably null Het
Tmtc1 G A 6: 148,148,329 (GRCm39) A751V probably damaging Het
Tnni2 A T 7: 141,997,650 (GRCm39) D85V probably damaging Het
Ttc39b G A 4: 83,162,307 (GRCm39) P319L probably damaging Het
Ttc6 A T 12: 57,622,805 (GRCm39) K68M probably damaging Het
Usp25 G A 16: 76,847,360 (GRCm39) R156Q probably benign Het
Vill A T 9: 118,900,230 (GRCm39) D365V probably damaging Het
Vmn1r65 T A 7: 6,012,223 (GRCm39) T4S probably benign Het
Vmn2r76 C A 7: 85,875,261 (GRCm39) C572F probably damaging Het
Vps26a A C 10: 62,304,077 (GRCm39) N181K probably damaging Het
Xirp2 T C 2: 67,341,134 (GRCm39) L1125P probably damaging Het
Zbtb41 T G 1: 139,351,501 (GRCm39) S205A probably benign Het
Zfp438 T C 18: 5,214,526 (GRCm39) D144G probably benign Het
Zfp600 T C 4: 146,131,670 (GRCm39) S113P probably damaging Het
Zfp84 C T 7: 29,475,818 (GRCm39) T170M probably benign Het
Zmiz2 T A 11: 6,352,837 (GRCm39) D654E probably damaging Het
Zswim4 A T 8: 84,957,739 (GRCm39) probably null 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
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'- ACAAACACATATTTGGGGCAGG -3'
(R):5'- TGTGCCGCTGTAGATACCATTAC -3'

Sequencing Primer
(F):5'- CACATATTTGGGGCAGGACACAG -3'
(R):5'- ACTCACCTTGTACAAGCTGTATGG -3'
Posted On 2016-11-08