Incidental Mutation 'R6128:Cyp2d12'
ID 487540
Institutional Source Beutler Lab
Gene Symbol Cyp2d12
Ensembl Gene ENSMUSG00000096852
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 12
Synonyms 9030605E09Rik
MMRRC Submission 044275-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 82439244-82443614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82443166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 358 (D358E)
Ref Sequence ENSEMBL: ENSMUSP00000154856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068861] [ENSMUST00000228974] [ENSMUST00000229103] [ENSMUST00000229904]
AlphaFold Q8BVD2
Predicted Effect probably benign
Transcript: ENSMUST00000068861
AA Change: D409E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: D409E

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 probably benign
Transcript: ENSMUST00000229904
AA Change: D358E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230859
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
A430033K04Rik A G 5: 138,646,038 (GRCm39) H641R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Asah1 C T 8: 41,807,092 (GRCm39) V111M probably damaging Het
Ascc3 T C 10: 50,526,734 (GRCm39) L611P probably damaging Het
Atl2 C A 17: 80,172,470 (GRCm39) probably null Het
Bhlhe22 A T 3: 18,109,987 (GRCm39) S346C probably damaging Het
Bicc1 T C 10: 70,776,313 (GRCm39) probably null Het
Bptf G T 11: 106,965,516 (GRCm39) A1163D possibly damaging Het
Bub1b T A 2: 118,448,293 (GRCm39) C382S probably benign Het
Carmil1 A T 13: 24,197,177 (GRCm39) Y158* probably null Het
Ccdc175 A T 12: 72,175,933 (GRCm39) I473K probably benign Het
Ccdc18 A G 5: 108,311,625 (GRCm39) I444V possibly damaging Het
Cep131 T A 11: 119,956,801 (GRCm39) I880F probably damaging Het
Ces2e T A 8: 105,655,428 (GRCm39) I117N probably benign Het
Clk2 C T 3: 89,081,531 (GRCm39) T289M probably damaging Het
Crocc2 A T 1: 93,122,123 (GRCm39) D672V probably benign Het
Cul7 T A 17: 46,962,588 (GRCm39) I73N probably damaging Het
Cyp7a1 A G 4: 6,272,788 (GRCm39) S142P possibly damaging Het
Daw1 T A 1: 83,183,647 (GRCm39) C232* probably null Het
Dhx9 T C 1: 153,353,835 (GRCm39) K195R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpp3 A G 19: 4,972,420 (GRCm39) V168A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ercc6l2 T C 13: 64,001,563 (GRCm39) V459A probably damaging Het
Erp44 A T 4: 48,243,493 (GRCm39) N38K probably damaging Het
Fam135a A G 1: 24,069,821 (GRCm39) probably null Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fdps T C 3: 89,006,740 (GRCm39) E117G possibly damaging Het
Gbp4 A C 5: 105,283,030 (GRCm39) V80G possibly damaging Het
Glt1d1 A T 5: 127,754,335 (GRCm39) D179V probably damaging Het
Gtf2a1l T A 17: 89,002,086 (GRCm39) V314E probably null Het
Gzmf G T 14: 56,443,443 (GRCm39) Y178* probably null Het
Hira C T 16: 18,751,727 (GRCm39) P509S probably benign Het
Ifi44 T C 3: 151,454,823 (GRCm39) N134S probably benign Het
Igfbp2 T A 1: 72,863,958 (GRCm39) C74S probably damaging Het
Il24 A G 1: 130,813,435 (GRCm39) L54P probably damaging Het
Ints10 T C 8: 69,274,904 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,311 (GRCm39) C700R possibly damaging Het
Kalrn T A 16: 34,033,255 (GRCm39) Q469L probably damaging Het
Lrp1b T G 2: 40,750,667 (GRCm39) I2966L probably benign Het
Lta C A 17: 35,422,817 (GRCm39) V169L possibly damaging Het
Lyst T C 13: 13,933,964 (GRCm39) V3554A possibly damaging Het
Mobp A G 9: 119,997,392 (GRCm39) probably benign Het
Myorg T A 4: 41,498,445 (GRCm39) N395I probably damaging Het
Or10d1 C G 9: 39,484,549 (GRCm39) R2T probably benign Het
Or4b1d A T 2: 89,968,954 (GRCm39) C176* probably null Het
Or8c14-ps1 T C 9: 38,101,299 (GRCm39) S93P probably benign Het
Pacs1 A T 19: 5,202,400 (GRCm39) probably null Het
Phf21a G T 2: 92,181,953 (GRCm39) probably null Het
Pick1 T A 15: 79,123,896 (GRCm39) M89K probably damaging Het
Pik3cb T C 9: 98,946,152 (GRCm39) D558G possibly damaging Het
Pnma8a A G 7: 16,694,661 (GRCm39) D172G probably benign Het
Polr2a A C 11: 69,627,803 (GRCm39) V1368G probably damaging Het
Pomt2 A G 12: 87,158,109 (GRCm39) probably null Het
Pou2f1 T C 1: 165,703,056 (GRCm39) probably benign Het
Rnf145 T C 11: 44,446,018 (GRCm39) V284A probably damaging Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr3 C T 2: 112,784,639 (GRCm39) probably null Het
Scamp1 A C 13: 94,344,735 (GRCm39) L202R possibly damaging Het
Snx25 C T 8: 46,558,240 (GRCm39) V110I probably benign Het
Spata31e2 G A 1: 26,724,506 (GRCm39) P225S probably benign Het
Susd6 T A 12: 80,915,388 (GRCm39) H124Q possibly damaging Het
Tarm1 T C 7: 3,537,720 (GRCm39) T248A probably benign Het
Tc2n A G 12: 101,675,748 (GRCm39) M1T probably null Het
Tcerg1 C A 18: 42,644,563 (GRCm39) probably null Het
Ticrr C A 7: 79,343,716 (GRCm39) P1194T probably damaging Het
Trim31 T G 17: 37,220,491 (GRCm39) V469G probably benign Het
Vcp T C 4: 42,980,941 (GRCm39) E723G probably benign Het
Vmn1r177 C A 7: 23,565,267 (GRCm39) S203I probably damaging Het
Vmn1r177 T A 7: 23,565,268 (GRCm39) S203C probably damaging Het
Vmn1r210 A T 13: 23,012,277 (GRCm39) L3* probably null Het
Wdr27 T A 17: 15,152,796 (GRCm39) R104* probably null Het
Wnk1 A C 6: 119,940,747 (GRCm39) probably null Het
Zfp157 A G 5: 138,453,281 (GRCm39) E88G possibly damaging Het
Zfp708 A T 13: 67,222,965 (GRCm39) L22Q probably damaging Het
Zfp788 T C 7: 41,299,785 (GRCm39) F787S probably damaging Het
Other mutations in Cyp2d12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Cyp2d12 APN 15 82,439,545 (GRCm39) splice site probably benign
IGL02318:Cyp2d12 APN 15 82,439,444 (GRCm39) missense probably benign 0.33
IGL02353:Cyp2d12 APN 15 82,443,171 (GRCm39) missense probably benign 0.02
IGL02360:Cyp2d12 APN 15 82,443,171 (GRCm39) missense probably benign 0.02
IGL02491:Cyp2d12 APN 15 82,442,682 (GRCm39) missense possibly damaging 0.88
IGL02651:Cyp2d12 APN 15 82,440,941 (GRCm39) missense probably damaging 0.99
IGL02664:Cyp2d12 APN 15 82,443,535 (GRCm39) missense probably benign
IGL03169:Cyp2d12 APN 15 82,443,492 (GRCm39) missense probably benign 0.00
IGL03354:Cyp2d12 APN 15 82,443,162 (GRCm39) missense probably damaging 1.00
PIT4581001:Cyp2d12 UTSW 15 82,442,652 (GRCm39) missense probably damaging 1.00
R0426:Cyp2d12 UTSW 15 82,443,164 (GRCm39) missense probably benign 0.12
R0578:Cyp2d12 UTSW 15 82,440,584 (GRCm39) splice site probably benign
R1297:Cyp2d12 UTSW 15 82,441,887 (GRCm39) missense probably benign 0.31
R1517:Cyp2d12 UTSW 15 82,442,337 (GRCm39) missense probably damaging 1.00
R1718:Cyp2d12 UTSW 15 82,442,251 (GRCm39) missense probably benign 0.00
R1829:Cyp2d12 UTSW 15 82,442,257 (GRCm39) missense possibly damaging 0.87
R2208:Cyp2d12 UTSW 15 82,441,137 (GRCm39) missense probably damaging 1.00
R2366:Cyp2d12 UTSW 15 82,439,355 (GRCm39) missense probably damaging 1.00
R2385:Cyp2d12 UTSW 15 82,442,696 (GRCm39) missense probably benign 0.00
R2504:Cyp2d12 UTSW 15 82,443,237 (GRCm39) missense probably benign 0.06
R4009:Cyp2d12 UTSW 15 82,440,493 (GRCm39) missense probably damaging 1.00
R4940:Cyp2d12 UTSW 15 82,442,251 (GRCm39) missense probably benign 0.00
R5237:Cyp2d12 UTSW 15 82,442,207 (GRCm39) splice site probably null
R5327:Cyp2d12 UTSW 15 82,439,423 (GRCm39) missense probably benign 0.00
R5549:Cyp2d12 UTSW 15 82,440,498 (GRCm39) missense probably benign 0.23
R6275:Cyp2d12 UTSW 15 82,440,859 (GRCm39) missense probably benign 0.00
R6723:Cyp2d12 UTSW 15 82,441,085 (GRCm39) missense probably benign
R6808:Cyp2d12 UTSW 15 82,440,934 (GRCm39) missense probably damaging 1.00
R6947:Cyp2d12 UTSW 15 82,443,248 (GRCm39) missense probably benign
R7137:Cyp2d12 UTSW 15 82,442,022 (GRCm39) missense probably benign 0.42
R7224:Cyp2d12 UTSW 15 82,441,849 (GRCm39) splice site probably null
R7513:Cyp2d12 UTSW 15 82,442,621 (GRCm39) missense probably benign
R7698:Cyp2d12 UTSW 15 82,443,171 (GRCm39) missense probably benign 0.02
R7753:Cyp2d12 UTSW 15 82,441,164 (GRCm39) missense possibly damaging 0.68
R8465:Cyp2d12 UTSW 15 82,439,378 (GRCm39) missense possibly damaging 0.46
R8965:Cyp2d12 UTSW 15 82,443,186 (GRCm39) missense possibly damaging 0.87
R9031:Cyp2d12 UTSW 15 82,443,423 (GRCm39) missense probably null 0.02
R9286:Cyp2d12 UTSW 15 82,443,403 (GRCm39) missense probably damaging 1.00
R9296:Cyp2d12 UTSW 15 82,440,435 (GRCm39) nonsense probably null
X0065:Cyp2d12 UTSW 15 82,442,029 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CCAATGGGAGATCTGTTACAGG -3'
(R):5'- GGAAGAGGGCTCAGTTAGTCTG -3'

Sequencing Primer
(F):5'- CCTGCAGGGTGTAGAGGATTAG -3'
(R):5'- CAGTTAGTCTGGGACCTGATTG -3'
Posted On 2017-10-10