Incidental Mutation 'R3707:Cyp2d10'
ID 258767
Institutional Source Beutler Lab
Gene Symbol Cyp2d10
Ensembl Gene ENSMUSG00000094806
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 10
Synonyms P450-2D, Cyp2d
MMRRC Submission 040700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R3707 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82287047-82291396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82287217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 469 (F469L)
Ref Sequence ENSEMBL: ENSMUSP00000072555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072776] [ENSMUST00000229628] [ENSMUST00000229911] [ENSMUST00000230198] [ENSMUST00000230248] [ENSMUST00000230843]
AlphaFold P24456
Predicted Effect possibly damaging
Transcript: ENSMUST00000072776
AA Change: F469L

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072555
Gene: ENSMUSG00000094806
AA Change: F469L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:p450 37 497 6e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183705
Predicted Effect probably benign
Transcript: ENSMUST00000229628
Predicted Effect probably benign
Transcript: ENSMUST00000229911
AA Change: F300L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect silent
Transcript: ENSMUST00000230198
Predicted Effect probably benign
Transcript: ENSMUST00000230248
Predicted Effect probably benign
Transcript: ENSMUST00000230843
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Avpr1a T A 10: 122,285,014 (GRCm39) F102Y probably damaging Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Chrng C T 1: 87,138,333 (GRCm39) Q375* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Dennd6a T C 14: 26,313,546 (GRCm39) probably benign Het
Eef2k C A 7: 120,483,935 (GRCm39) L224I probably damaging Het
Gm10033 G C 8: 69,825,068 (GRCm39) noncoding transcript Het
Gm11545 T C 11: 94,648,385 (GRCm39) noncoding transcript Het
Herpud1 T A 8: 95,118,867 (GRCm39) V207D probably damaging Het
Hmbox1 T C 14: 65,134,285 (GRCm39) Y105C probably benign Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lgr4 T C 2: 109,801,099 (GRCm39) L83P probably damaging Het
Lrch1 C T 14: 75,095,437 (GRCm39) M134I probably damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Mtg1 A T 7: 139,729,717 (GRCm39) K269M probably damaging Het
Nkain3 A T 4: 20,484,920 (GRCm39) F52L possibly damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Or12e10 T C 2: 87,640,520 (GRCm39) C119R probably damaging Het
Or6c8 T A 10: 128,915,254 (GRCm39) I193F probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pdhb T C 14: 8,170,409 (GRCm38) N114S probably damaging Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pimreg G A 11: 71,937,158 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Resf1 C T 6: 149,230,611 (GRCm39) S1219L probably damaging Het
Rif1 T A 2: 51,983,592 (GRCm39) D578E probably damaging Het
Rrbp1 G T 2: 143,795,197 (GRCm39) A1269E probably benign Het
Rufy3 G A 5: 88,790,891 (GRCm39) A531T probably benign Het
Slc22a22 C A 15: 57,114,369 (GRCm39) L319F probably damaging Het
Tapbpl A G 6: 125,201,658 (GRCm39) probably null Het
Tdrd1 T C 19: 56,854,425 (GRCm39) S1124P possibly damaging Het
Top2a T C 11: 98,887,651 (GRCm39) K1286E probably benign Het
Top2b T C 14: 16,388,447 (GRCm38) V188A probably damaging Het
Vmn2r4 A T 3: 64,296,895 (GRCm39) I630N probably damaging Het
Vmn2r53 T C 7: 12,315,981 (GRCm39) T613A possibly damaging Het
Zbtb40 A G 4: 136,726,879 (GRCm39) Y486H probably damaging Het
Zfp715 T C 7: 42,960,553 (GRCm39) T13A probably benign Het
Zfx A G X: 93,142,413 (GRCm39) V36A possibly damaging Het
Other mutations in Cyp2d10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Cyp2d10 APN 15 82,287,515 (GRCm39) missense possibly damaging 0.71
IGL00840:Cyp2d10 APN 15 82,288,691 (GRCm39) missense probably benign 0.40
IGL01293:Cyp2d10 APN 15 82,287,210 (GRCm39) missense possibly damaging 0.92
IGL01339:Cyp2d10 APN 15 82,288,042 (GRCm39) missense probably benign 0.33
IGL01871:Cyp2d10 APN 15 82,288,086 (GRCm39) missense probably damaging 1.00
IGL02132:Cyp2d10 APN 15 82,288,808 (GRCm39) intron probably benign
IGL02713:Cyp2d10 APN 15 82,290,283 (GRCm39) unclassified probably benign
IGL02869:Cyp2d10 APN 15 82,288,069 (GRCm39) missense possibly damaging 0.84
R0102:Cyp2d10 UTSW 15 82,288,794 (GRCm39) missense probably benign 0.01
R0102:Cyp2d10 UTSW 15 82,288,794 (GRCm39) missense probably benign 0.01
R0279:Cyp2d10 UTSW 15 82,289,540 (GRCm39) missense possibly damaging 0.94
R0331:Cyp2d10 UTSW 15 82,291,227 (GRCm39) missense probably benign 0.12
R1344:Cyp2d10 UTSW 15 82,290,106 (GRCm39) critical splice donor site probably null
R1418:Cyp2d10 UTSW 15 82,290,106 (GRCm39) critical splice donor site probably null
R1465:Cyp2d10 UTSW 15 82,288,129 (GRCm39) splice site probably null
R1465:Cyp2d10 UTSW 15 82,288,129 (GRCm39) splice site probably null
R1706:Cyp2d10 UTSW 15 82,289,783 (GRCm39) missense probably damaging 0.96
R1712:Cyp2d10 UTSW 15 82,287,240 (GRCm39) missense probably damaging 1.00
R1940:Cyp2d10 UTSW 15 82,289,495 (GRCm39) missense probably benign 0.13
R1983:Cyp2d10 UTSW 15 82,290,200 (GRCm39) missense probably benign 0.15
R2056:Cyp2d10 UTSW 15 82,288,015 (GRCm39) missense probably damaging 1.00
R2058:Cyp2d10 UTSW 15 82,288,015 (GRCm39) missense probably damaging 1.00
R3708:Cyp2d10 UTSW 15 82,287,217 (GRCm39) missense possibly damaging 0.91
R4042:Cyp2d10 UTSW 15 82,290,269 (GRCm39) missense probably benign 0.33
R4531:Cyp2d10 UTSW 15 82,289,462 (GRCm39) missense probably benign 0.31
R4694:Cyp2d10 UTSW 15 82,288,684 (GRCm39) missense probably damaging 1.00
R4869:Cyp2d10 UTSW 15 82,287,967 (GRCm39) missense probably benign 0.00
R5071:Cyp2d10 UTSW 15 82,287,954 (GRCm39) missense probably benign 0.07
R5072:Cyp2d10 UTSW 15 82,287,954 (GRCm39) missense probably benign 0.07
R5073:Cyp2d10 UTSW 15 82,287,954 (GRCm39) missense probably benign 0.07
R5074:Cyp2d10 UTSW 15 82,287,954 (GRCm39) missense probably benign 0.07
R5746:Cyp2d10 UTSW 15 82,289,472 (GRCm39) missense probably benign 0.38
R7096:Cyp2d10 UTSW 15 82,289,462 (GRCm39) missense probably benign
R7212:Cyp2d10 UTSW 15 82,288,447 (GRCm39) critical splice acceptor site probably null
R7324:Cyp2d10 UTSW 15 82,287,961 (GRCm39) missense probably damaging 0.97
R7487:Cyp2d10 UTSW 15 82,288,793 (GRCm39) missense probably benign 0.00
R7915:Cyp2d10 UTSW 15 82,288,628 (GRCm39) critical splice donor site probably null
R9071:Cyp2d10 UTSW 15 82,288,361 (GRCm39) missense probably damaging 0.99
R9460:Cyp2d10 UTSW 15 82,289,470 (GRCm39) missense probably benign 0.00
X0063:Cyp2d10 UTSW 15 82,290,201 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTCTGAAGACCCAGCAAGAG -3'
(R):5'- ATGCCATTCTCAGCAGGTGC -3'

Sequencing Primer
(F):5'- CTGGGATTGAAGCAGAAAACAGC -3'
(R):5'- ATTCTCAGCAGGTGCCTGGG -3'
Posted On 2015-01-23