Incidental Mutation 'IGL03354:Cyp2d12'
ID419845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2d12
Ensembl Gene ENSMUSG00000096852
Gene Namecytochrome P450, family 2, subfamily d, polypeptide 12
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL03354
Quality Score
Status
Chromosome15
Chromosomal Location82555072-82560403 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82558961 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 357 (D357V)
Ref Sequence ENSEMBL: ENSMUSP00000154856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068861] [ENSMUST00000228974] [ENSMUST00000229103] [ENSMUST00000229904]
Predicted Effect probably damaging
Transcript: ENSMUST00000068861
AA Change: D408V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: D408V

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Pfam:p450 37 497 3.6e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184191
Predicted Effect probably benign
Transcript: ENSMUST00000228974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229062
Predicted Effect probably benign
Transcript: ENSMUST00000229103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229792
Predicted Effect probably damaging
Transcript: ENSMUST00000229904
AA Change: D357V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230859
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,646,779 A309T possibly damaging Het
Abca15 C A 7: 120,394,488 Y1310* probably null Het
Adad1 G T 3: 37,106,173 C552F probably damaging Het
Adam22 A G 5: 8,158,890 S180P possibly damaging Het
Anxa10 A T 8: 62,096,744 D22E probably damaging Het
Astn1 T C 1: 158,688,604 S1255P probably damaging Het
Bhlhe41 T C 6: 145,864,203 T92A probably damaging Het
Bicc1 G A 10: 70,946,602 P603S probably benign Het
Camk2d T C 3: 126,796,966 probably null Het
Ccdc136 T A 6: 29,419,103 I808N probably damaging Het
Cd200r3 C T 16: 44,953,597 A124V possibly damaging Het
Cfap70 T C 14: 20,431,982 E310G probably damaging Het
Dnah7b G A 1: 46,085,689 V173I probably damaging Het
Dnajb4 T A 3: 152,186,478 E239D probably benign Het
Dzip1 G A 14: 118,912,569 probably benign Het
Emp2 A G 16: 10,285,565 I74T probably damaging Het
Ermn T G 2: 58,052,622 E32A probably benign Het
F10 C A 8: 13,045,089 T82N probably benign Het
Fam227a T C 15: 79,636,750 D295G possibly damaging Het
Gm527 T A 12: 64,922,380 F194I probably damaging Het
Gmcl1 G A 6: 86,726,158 T98M probably damaging Het
Gucy2g T C 19: 55,233,080 R330G possibly damaging Het
Hist1h1e C T 13: 23,622,077 probably benign Het
Kif1a T C 1: 93,060,235 H549R probably damaging Het
Klhl14 T A 18: 21,651,728 D214V probably damaging Het
Lipo2 A G 19: 33,730,870 F248S probably benign Het
Mctp2 C T 7: 72,161,244 V661I probably benign Het
Myh15 A T 16: 49,172,010 M1616L probably benign Het
Nlrp4b A T 7: 10,714,538 I223F probably damaging Het
Olfr1133 T C 2: 87,645,595 N176S probably damaging Het
Olfr1367 T C 13: 21,347,516 V196A possibly damaging Het
Olfr1368 T C 13: 21,142,484 Y191C probably damaging Het
Olfr140 A C 2: 90,051,567 C252W probably damaging Het
Olfr347 A T 2: 36,734,512 S64C possibly damaging Het
Olfr347 G T 2: 36,734,513 S64I possibly damaging Het
Olfr508 T A 7: 108,630,528 C179S possibly damaging Het
Olfr706 A G 7: 106,886,100 V239A probably benign Het
Pcsk4 T C 10: 80,326,059 D116G probably damaging Het
Pibf1 A G 14: 99,150,738 D440G probably benign Het
Plekho2 T C 9: 65,559,421 E129G probably null Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rars A G 11: 35,824,475 L248P probably damaging Het
Ruvbl1 C A 6: 88,479,215 Y90* probably null Het
Schip1 A G 3: 68,494,965 D125G possibly damaging Het
Smarca2 T C 19: 26,619,903 S62P probably benign Het
Sort1 T C 3: 108,348,706 V656A probably benign Het
Tlr12 A G 4: 128,615,937 L840P probably damaging Het
Trpm3 T A 19: 22,856,718 I438N probably damaging Het
Ttc37 T C 13: 76,182,822 V1457A possibly damaging Het
Wdr11 C A 7: 129,625,302 F829L probably benign Het
Zdhhc11 A T 13: 73,979,145 I214F possibly damaging Het
Other mutations in Cyp2d12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Cyp2d12 APN 15 82555344 splice site probably benign
IGL02318:Cyp2d12 APN 15 82555243 missense probably benign 0.33
IGL02353:Cyp2d12 APN 15 82558970 missense probably benign 0.02
IGL02360:Cyp2d12 APN 15 82558970 missense probably benign 0.02
IGL02491:Cyp2d12 APN 15 82558481 missense possibly damaging 0.88
IGL02651:Cyp2d12 APN 15 82556740 missense probably damaging 0.99
IGL02664:Cyp2d12 APN 15 82559334 missense probably benign
IGL03169:Cyp2d12 APN 15 82559291 missense probably benign 0.00
PIT4581001:Cyp2d12 UTSW 15 82558451 missense probably damaging 1.00
R0426:Cyp2d12 UTSW 15 82558963 missense probably benign 0.12
R0578:Cyp2d12 UTSW 15 82556383 splice site probably benign
R1297:Cyp2d12 UTSW 15 82557686 missense probably benign 0.31
R1517:Cyp2d12 UTSW 15 82558136 missense probably damaging 1.00
R1718:Cyp2d12 UTSW 15 82558050 missense probably benign 0.00
R1829:Cyp2d12 UTSW 15 82558056 missense possibly damaging 0.87
R2208:Cyp2d12 UTSW 15 82556936 missense probably damaging 1.00
R2366:Cyp2d12 UTSW 15 82555154 missense probably damaging 1.00
R2385:Cyp2d12 UTSW 15 82558495 missense probably benign 0.00
R2504:Cyp2d12 UTSW 15 82559036 missense probably benign 0.06
R4009:Cyp2d12 UTSW 15 82556292 missense probably damaging 1.00
R4940:Cyp2d12 UTSW 15 82558050 missense probably benign 0.00
R5237:Cyp2d12 UTSW 15 82558006 splice site probably null
R5327:Cyp2d12 UTSW 15 82555222 missense probably benign 0.00
R5549:Cyp2d12 UTSW 15 82556297 missense probably benign 0.23
R6128:Cyp2d12 UTSW 15 82558965 missense probably benign
R6275:Cyp2d12 UTSW 15 82556658 missense probably benign 0.00
R6723:Cyp2d12 UTSW 15 82556884 missense probably benign
R6808:Cyp2d12 UTSW 15 82556733 missense probably damaging 1.00
R6947:Cyp2d12 UTSW 15 82559047 missense probably benign
R7137:Cyp2d12 UTSW 15 82557821 missense probably benign 0.42
R7224:Cyp2d12 UTSW 15 82557648 splice site probably null
R7513:Cyp2d12 UTSW 15 82558420 missense probably benign
R7698:Cyp2d12 UTSW 15 82558970 missense probably benign 0.02
R7753:Cyp2d12 UTSW 15 82556963 missense possibly damaging 0.68
X0065:Cyp2d12 UTSW 15 82557828 missense probably benign 0.04
Posted On2016-08-02