Incidental Mutation 'IGL03410:Cyp2d9'
ID421743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2d9
Ensembl Gene ENSMUSG00000068086
Gene Namecytochrome P450, family 2, subfamily d, polypeptide 9
SynonymsCyp2d, testosterone 16alpha-hydroxylase, P450-2D
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL03410
Quality Score
Status
Chromosome15
Chromosomal Location82433437-82456845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82456699 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 483 (V483A)
Ref Sequence ENSEMBL: ENSMUSP00000086530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089129] [ENSMUST00000229313] [ENSMUST00000229473] [ENSMUST00000229793] [ENSMUST00000230000] [ENSMUST00000230024] [ENSMUST00000230191] [ENSMUST00000231136]
Predicted Effect probably benign
Transcript: ENSMUST00000089129
AA Change: V483A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: V483A

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
Predicted Effect probably benign
Transcript: ENSMUST00000229473
Predicted Effect probably benign
Transcript: ENSMUST00000229793
Predicted Effect probably benign
Transcript: ENSMUST00000230000
Predicted Effect probably benign
Transcript: ENSMUST00000230024
Predicted Effect probably benign
Transcript: ENSMUST00000230191
Predicted Effect probably benign
Transcript: ENSMUST00000231136
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,001,896 V409E probably damaging Het
1700086D15Rik A G 11: 65,152,567 probably benign Het
Apba1 A G 19: 23,937,581 N715S possibly damaging Het
Arfgef3 G T 10: 18,600,490 A1527D probably damaging Het
Cmtm2a G T 8: 104,283,869 P133T probably damaging Het
Dclre1b T A 3: 103,808,140 D14V probably damaging Het
Dock5 T C 14: 67,846,086 I125V probably benign Het
Dok3 G T 13: 55,524,231 Y211* probably null Het
Fat4 T C 3: 38,891,176 V1406A probably damaging Het
Fbn2 A G 18: 58,050,243 F1790S possibly damaging Het
Gm13083 C A 4: 143,615,281 H93Q probably benign Het
Gm4787 A T 12: 81,379,174 M70K probably damaging Het
Gulp1 A T 1: 44,708,617 D10V probably damaging Het
Hagh T C 17: 24,860,942 probably benign Het
Htt A G 5: 34,799,445 E206G probably damaging Het
Hyou1 A G 9: 44,388,058 E682G probably benign Het
Igkv4-59 G T 6: 69,438,466 A35E probably damaging Het
Krt78 A G 15: 101,953,986 V80A probably damaging Het
Lars2 G A 9: 123,418,776 A333T possibly damaging Het
Lrrc4 G A 6: 28,830,516 R367W probably damaging Het
Med1 A T 11: 98,189,183 M44K possibly damaging Het
Mep1a T A 17: 43,478,095 probably null Het
Mmrn1 A G 6: 60,975,835 I367V probably benign Het
Myo18a T C 11: 77,848,004 L1677P probably damaging Het
Neb T C 2: 52,319,705 T246A probably benign Het
Nkiras1 A G 14: 18,280,073 R155G probably benign Het
Nrip1 T C 16: 76,292,491 N726S probably benign Het
Nyap2 A G 1: 81,241,441 T393A possibly damaging Het
Olfr1029 T A 2: 85,975,420 M59K probably damaging Het
Olfr1272 A G 2: 90,282,213 Y121H probably damaging Het
Olfr32 G A 2: 90,139,145 probably benign Het
Oprm1 A T 10: 6,830,051 I238F probably damaging Het
Pcnx2 T A 8: 125,887,040 E557D probably damaging Het
Pole A G 5: 110,324,559 I1563V probably benign Het
Prdx3 T G 19: 60,871,410 probably benign Het
Rgsl1 C T 1: 153,793,755 R295K probably null Het
Rhbdl2 T A 4: 123,829,670 L289* probably null Het
Rnps1 A G 17: 24,421,861 probably benign Het
Rpgrip1 A G 14: 52,158,366 probably benign Het
Ryr2 A T 13: 11,588,147 Y4518N probably damaging Het
Scyl3 A G 1: 163,944,867 N296S probably damaging Het
Sipa1l3 G A 7: 29,348,539 T1308M probably damaging Het
Slc39a9 A G 12: 80,644,888 D3G probably damaging Het
Slc4a9 A G 18: 36,529,687 E165G probably benign Het
Slc6a3 A T 13: 73,538,657 I48F probably benign Het
Stxbp3 C T 3: 108,802,160 C354Y probably damaging Het
Terb1 C A 8: 104,473,042 probably benign Het
Tfrc G A 16: 32,624,831 probably null Het
Toporsl A C 4: 52,611,134 R342S probably benign Het
Ttc26 T C 6: 38,385,500 L70P probably damaging Het
Ube2d3 T A 3: 135,465,217 W141R probably damaging Het
Vps13b G T 15: 35,910,340 V3417L probably benign Het
Other mutations in Cyp2d9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cyp2d9 APN 15 82455094 missense probably benign 0.05
IGL00587:Cyp2d9 APN 15 82455143 missense possibly damaging 0.89
IGL00815:Cyp2d9 APN 15 82456375 missense possibly damaging 0.94
IGL03023:Cyp2d9 APN 15 82455518 missense probably damaging 0.99
R0417:Cyp2d9 UTSW 15 82455951 missense probably damaging 1.00
R0627:Cyp2d9 UTSW 15 82455790 missense probably damaging 1.00
R1326:Cyp2d9 UTSW 15 82455156 missense possibly damaging 0.50
R1501:Cyp2d9 UTSW 15 82454324 nonsense probably null
R1893:Cyp2d9 UTSW 15 82452606 missense probably damaging 0.97
R2496:Cyp2d9 UTSW 15 82452479 missense probably damaging 1.00
R2519:Cyp2d9 UTSW 15 82454518 intron probably null
R3155:Cyp2d9 UTSW 15 82452642 critical splice donor site probably null
R4691:Cyp2d9 UTSW 15 82455832 missense probably damaging 1.00
R4727:Cyp2d9 UTSW 15 82454401 start codon destroyed probably null 0.99
R4770:Cyp2d9 UTSW 15 82452573 missense probably damaging 0.98
R5319:Cyp2d9 UTSW 15 82454055 missense probably damaging 1.00
R5486:Cyp2d9 UTSW 15 82452578 missense probably damaging 0.96
R5516:Cyp2d9 UTSW 15 82454327 missense probably null 1.00
R5646:Cyp2d9 UTSW 15 82452464 missense probably benign 0.01
R5898:Cyp2d9 UTSW 15 82455524 missense probably benign 0.02
R6193:Cyp2d9 UTSW 15 82452527 missense probably benign 0.01
R6288:Cyp2d9 UTSW 15 82456415 missense probably damaging 1.00
R6924:Cyp2d9 UTSW 15 82455212 missense probably damaging 1.00
Posted On2016-08-02