Incidental Mutation 'IGL02234:Cyp2d11'
ID 285829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2d11
Ensembl Gene ENSMUSG00000068085
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 11
Synonyms P450-2D, Cyp2d
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL02234
Quality Score
Status
Chromosome 15
Chromosomal Location 82273355-82278223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82274340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 347 (H347L)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
AlphaFold P24457
Predicted Effect probably benign
Transcript: ENSMUST00000170255
AA Change: H347L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: H347L

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 7.7e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183858
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,645,179 (GRCm39) T1010M possibly damaging Het
Atr A G 9: 95,829,303 (GRCm39) probably benign Het
Cdc42bpa A T 1: 179,978,756 (GRCm39) K1585* probably null Het
Cdh19 T C 1: 110,859,956 (GRCm39) D175G probably damaging Het
Celsr3 G T 9: 108,707,159 (GRCm39) R1214L probably benign Het
Chchd1 T C 14: 20,753,478 (GRCm39) probably null Het
Col4a1 T C 8: 11,266,713 (GRCm39) K1165E probably damaging Het
Col6a4 A G 9: 105,890,631 (GRCm39) F1888L possibly damaging Het
Csmd3 C A 15: 47,811,512 (GRCm39) R1193L probably damaging Het
Cyp4f13 A G 17: 33,143,748 (GRCm39) probably benign Het
Dop1b T C 16: 93,549,039 (GRCm39) V193A probably benign Het
Dus4l T C 12: 31,691,495 (GRCm39) probably benign Het
Epc1 G A 18: 6,439,938 (GRCm39) H79Y probably damaging Het
Gm12588 T A 11: 121,799,151 (GRCm39) Het
Gpr107 T C 2: 31,067,845 (GRCm39) Y222H probably damaging Het
Gzmn C T 14: 56,406,464 (GRCm39) probably null Het
Helq A G 5: 100,944,336 (GRCm39) I258T possibly damaging Het
Hsp90ab1 T C 17: 45,880,661 (GRCm39) K137R probably benign Het
Htr1f T A 16: 64,746,430 (GRCm39) R287S probably damaging Het
Il20ra A C 10: 19,625,018 (GRCm39) D99A probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mboat7 A G 7: 3,694,350 (GRCm39) Y34H probably damaging Het
Mid2 T C X: 139,664,418 (GRCm39) S646P probably damaging Het
Msh6 T C 17: 88,294,229 (GRCm39) S995P probably damaging Het
Mtmr10 A G 7: 63,949,350 (GRCm39) I108V probably benign Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Nlrp4f A G 13: 65,342,302 (GRCm39) F448L probably damaging Het
Odc1 C A 12: 17,598,621 (GRCm39) D220E possibly damaging Het
Or8k33 T C 2: 86,383,610 (GRCm39) N286S probably damaging Het
Pax7 A G 4: 139,555,901 (GRCm39) I189T probably damaging Het
Pcdh12 T A 18: 38,416,588 (GRCm39) H179L probably damaging Het
Pcdh15 A T 10: 74,467,694 (GRCm39) M1836L probably benign Het
Psmc5 T C 11: 106,153,836 (GRCm39) V390A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rpgrip1 A G 14: 52,368,766 (GRCm39) probably benign Het
Sema5a C T 15: 32,679,318 (GRCm39) R866C probably damaging Het
Stox2 A G 8: 47,646,647 (GRCm39) F271S probably damaging Het
Tpgs2 T C 18: 25,282,301 (GRCm39) probably null Het
Ttll8 T A 15: 88,798,252 (GRCm39) I828F possibly damaging Het
Vmn1r7 T C 6: 57,001,537 (GRCm39) Y241C probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Cyp2d11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Cyp2d11 APN 15 82,276,669 (GRCm39) missense probably benign 0.00
IGL00896:Cyp2d11 APN 15 82,275,275 (GRCm39) splice site probably benign
IGL02119:Cyp2d11 APN 15 82,274,265 (GRCm39) missense probably damaging 0.98
IGL02347:Cyp2d11 APN 15 82,274,681 (GRCm39) missense probably benign 0.22
IGL02352:Cyp2d11 APN 15 82,278,121 (GRCm39) missense possibly damaging 0.50
IGL02359:Cyp2d11 APN 15 82,278,121 (GRCm39) missense possibly damaging 0.50
IGL02876:Cyp2d11 APN 15 82,273,697 (GRCm39) missense possibly damaging 0.85
IGL03079:Cyp2d11 APN 15 82,275,167 (GRCm39) missense probably damaging 1.00
IGL03259:Cyp2d11 APN 15 82,274,221 (GRCm39) missense probably damaging 0.99
FR4340:Cyp2d11 UTSW 15 82,274,223 (GRCm39) frame shift probably null
R0066:Cyp2d11 UTSW 15 82,275,958 (GRCm39) missense probably benign
R0066:Cyp2d11 UTSW 15 82,275,958 (GRCm39) missense probably benign
R0101:Cyp2d11 UTSW 15 82,274,395 (GRCm39) splice site probably benign
R0125:Cyp2d11 UTSW 15 82,273,422 (GRCm39) missense probably benign 0.45
R0973:Cyp2d11 UTSW 15 82,273,730 (GRCm39) missense possibly damaging 0.80
R1466:Cyp2d11 UTSW 15 82,275,936 (GRCm39) missense probably benign 0.00
R1466:Cyp2d11 UTSW 15 82,275,936 (GRCm39) missense probably benign 0.00
R1525:Cyp2d11 UTSW 15 82,273,498 (GRCm39) missense probably damaging 0.98
R1708:Cyp2d11 UTSW 15 82,274,633 (GRCm39) missense probably benign 0.01
R1968:Cyp2d11 UTSW 15 82,273,749 (GRCm39) missense probably benign 0.01
R2117:Cyp2d11 UTSW 15 82,275,954 (GRCm39) missense probably damaging 0.99
R2223:Cyp2d11 UTSW 15 82,274,332 (GRCm39) missense probably benign 0.23
R2405:Cyp2d11 UTSW 15 82,273,467 (GRCm39) missense possibly damaging 0.88
R3745:Cyp2d11 UTSW 15 82,276,056 (GRCm39) missense probably benign 0.31
R4081:Cyp2d11 UTSW 15 82,276,002 (GRCm39) missense possibly damaging 0.86
R4496:Cyp2d11 UTSW 15 82,276,149 (GRCm39) splice site probably benign
R4732:Cyp2d11 UTSW 15 82,273,428 (GRCm39) missense probably benign 0.03
R4733:Cyp2d11 UTSW 15 82,273,428 (GRCm39) missense probably benign 0.03
R4880:Cyp2d11 UTSW 15 82,276,306 (GRCm39) missense probably benign 0.01
R4898:Cyp2d11 UTSW 15 82,275,224 (GRCm39) missense probably benign 0.03
R5045:Cyp2d11 UTSW 15 82,275,272 (GRCm39) critical splice acceptor site probably null
R5328:Cyp2d11 UTSW 15 82,275,972 (GRCm39) missense probably benign 0.04
R5356:Cyp2d11 UTSW 15 82,274,712 (GRCm39) missense probably benign 0.11
R5397:Cyp2d11 UTSW 15 82,276,279 (GRCm39) missense probably damaging 1.00
R5582:Cyp2d11 UTSW 15 82,276,319 (GRCm39) splice site probably null
R6862:Cyp2d11 UTSW 15 82,274,339 (GRCm39) missense probably benign
R7194:Cyp2d11 UTSW 15 82,275,969 (GRCm39) missense probably benign
R8097:Cyp2d11 UTSW 15 82,274,581 (GRCm39) critical splice donor site probably null
R8122:Cyp2d11 UTSW 15 82,276,744 (GRCm39) missense probably benign 0.27
R8152:Cyp2d11 UTSW 15 82,276,688 (GRCm39) missense probably benign
R8194:Cyp2d11 UTSW 15 82,274,638 (GRCm39) missense probably damaging 1.00
R8531:Cyp2d11 UTSW 15 82,273,429 (GRCm39) missense probably benign
R8894:Cyp2d11 UTSW 15 82,274,671 (GRCm39) missense probably benign 0.22
R8905:Cyp2d11 UTSW 15 82,275,102 (GRCm39) missense probably benign 0.00
R9112:Cyp2d11 UTSW 15 82,276,203 (GRCm39) missense possibly damaging 0.94
Z1088:Cyp2d11 UTSW 15 82,274,312 (GRCm39) missense probably damaging 0.99
Z1177:Cyp2d11 UTSW 15 82,276,700 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16