Incidental Mutation 'R1297:Cyp2d12'
ID 158192
Institutional Source Beutler Lab
Gene Symbol Cyp2d12
Ensembl Gene ENSMUSG00000096852
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 12
Synonyms 9030605E09Rik
MMRRC Submission 039363-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1297 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82439244-82443614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82441887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 109 (H109L)
Ref Sequence ENSEMBL: ENSMUSP00000155031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068861] [ENSMUST00000228974] [ENSMUST00000229103] [ENSMUST00000229904]
AlphaFold Q8BVD2
Predicted Effect probably benign
Transcript: ENSMUST00000068861
AA Change: H235L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: H235L

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 probably benign
Transcript: ENSMUST00000229103
AA Change: H109L

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229792
Predicted Effect probably benign
Transcript: ENSMUST00000229904
AA Change: H184L

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230859
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,820,834 (GRCm39) N542D possibly damaging Het
Ap2b1 T A 11: 83,223,935 (GRCm39) W217R probably damaging Het
Cep290 T A 10: 100,374,962 (GRCm39) probably benign Het
Col27a1 G A 4: 63,183,868 (GRCm39) probably benign Het
Dnah17 T C 11: 118,012,192 (GRCm39) probably benign Het
Golga3 G A 5: 110,352,709 (GRCm39) A867T probably benign Het
Gstt4 T A 10: 75,653,133 (GRCm39) N143I possibly damaging Het
Hdac2 G A 10: 36,862,370 (GRCm39) R78Q possibly damaging Het
Itsn2 T C 12: 4,750,378 (GRCm39) I1241T probably damaging Het
Kalrn T C 16: 33,836,868 (GRCm39) K2249R probably damaging Het
Klrg1 T A 6: 122,250,538 (GRCm39) I138F probably benign Het
Mast1 A G 8: 85,639,345 (GRCm39) V1328A probably benign Het
Mettl25 T C 10: 105,659,126 (GRCm39) S386G probably benign Het
Nme2 A T 11: 93,842,782 (GRCm39) N210K possibly damaging Het
Pgap1 T C 1: 54,567,682 (GRCm39) S388G possibly damaging Het
Pgk2 C A 17: 40,519,255 (GRCm39) V58L probably benign Het
Phf11 A T 14: 59,495,996 (GRCm39) H39Q probably benign Het
Pou6f1 T A 15: 100,476,186 (GRCm39) T292S probably damaging Het
Rbm5 G A 9: 107,621,441 (GRCm39) R15C probably damaging Het
Rnf215 T C 11: 4,089,806 (GRCm39) V273A possibly damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Safb2 T C 17: 56,891,265 (GRCm39) probably benign Het
Setdb1 A T 3: 95,257,187 (GRCm39) probably benign Het
Sp5 A G 2: 70,306,873 (GRCm39) D186G probably benign Het
Thada A G 17: 84,559,863 (GRCm39) probably benign Het
Tle1 A G 4: 72,043,075 (GRCm39) V598A probably damaging Het
Tnrc6c A G 11: 117,624,529 (GRCm39) N947S possibly damaging Het
Tnxb T C 17: 34,929,140 (GRCm39) S2728P probably damaging Het
Vmn1r13 A G 6: 57,187,392 (GRCm39) R184G probably damaging Het
Wdr24 C T 17: 26,046,322 (GRCm39) T522I possibly damaging Het
Zfyve16 A G 13: 92,658,840 (GRCm39) V357A probably benign 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
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
R6128:Cyp2d12 UTSW 15 82,443,166 (GRCm39) missense probably benign
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'- AGGTGGATACCGAGCATCACTAGC -3'
(R):5'- ATCTGGCCTCACAGCTCATAGGAC -3'

Sequencing Primer
(F):5'- agtaaaatggtgagtgggtaagg -3'
(R):5'- CAGTCCCTAGCTAAAAGTCTTGGAG -3'
Posted On 2014-02-18