Incidental Mutation 'R2405:Cyp2d11'
ID 247983
Institutional Source Beutler Lab
Gene Symbol Cyp2d11
Ensembl Gene ENSMUSG00000068085
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 11
Synonyms P450-2D, Cyp2d
MMRRC Submission 040371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R2405 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82273355-82278223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82273467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 468 (S468N)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
AlphaFold P24457
Predicted Effect possibly damaging
Transcript: ENSMUST00000170255
AA Change: S468N

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: S468N

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Abl1 T C 2: 31,690,986 (GRCm39) L835P possibly damaging Het
Ascc3 T A 10: 50,607,774 (GRCm39) V1426D probably damaging Het
Ccny A G 18: 9,353,480 (GRCm39) Y98H probably benign Het
Ccser2 G A 14: 36,660,626 (GRCm39) T509M probably damaging Het
Crnkl1 A T 2: 145,770,077 (GRCm39) Y255* probably null Het
Dnah7b C A 1: 46,402,114 (GRCm39) T3983N probably benign Het
Ebf1 T A 11: 44,882,349 (GRCm39) M427K probably damaging Het
Fxr1 T A 3: 34,116,003 (GRCm39) S438T probably damaging Het
Gabrr1 A T 4: 33,157,110 (GRCm39) D209V probably damaging Het
Gbx2 G T 1: 89,858,630 (GRCm39) probably benign Het
Gng14 A G 8: 85,794,270 (GRCm39) I56T possibly damaging Het
Gulo A G 14: 66,228,477 (GRCm39) probably null Het
Hhla1 A T 15: 65,808,160 (GRCm39) L295* probably null Het
Hmcn1 T A 1: 150,736,092 (GRCm39) I126L probably damaging Het
Hpse A G 5: 100,856,637 (GRCm39) S121P possibly damaging Het
Inpp5d A G 1: 87,627,451 (GRCm39) H321R possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kdm5b T A 1: 134,536,754 (GRCm39) M658K probably damaging Het
Kidins220 A T 12: 25,061,508 (GRCm39) E875V probably damaging Het
Lrrc37 T C 11: 103,511,810 (GRCm39) M53V unknown Het
Nlrp4b A G 7: 10,448,655 (GRCm39) E286G probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Pde3a A T 6: 141,426,968 (GRCm39) I710F probably damaging Het
Phb1 T C 11: 95,566,094 (GRCm39) I126T probably benign Het
Ppp4r1 C T 17: 66,118,341 (GRCm39) T164I possibly damaging Het
Psmc1 G A 12: 100,086,362 (GRCm39) R333Q probably benign Het
Pygb A G 2: 150,662,695 (GRCm39) Y554C probably benign Het
Ror2 G A 13: 53,284,980 (GRCm39) P144L possibly damaging Het
Serpina3a A T 12: 104,087,577 (GRCm39) M357L possibly damaging Het
Serpinb9e T A 13: 33,444,063 (GRCm39) M361K probably benign Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc15a2 G A 16: 36,572,199 (GRCm39) Q691* probably null Het
Slc25a25 C T 2: 32,307,731 (GRCm39) probably null Het
Slc34a2 A G 5: 53,215,523 (GRCm39) N9S probably benign Het
Slc4a2 A G 5: 24,640,599 (GRCm39) T665A probably damaging Het
Spef2 C A 15: 9,626,120 (GRCm39) E1149* probably null Het
Tmem179 A G 12: 112,468,347 (GRCm39) W45R probably damaging Het
Tmpo C A 10: 90,999,216 (GRCm39) K190N probably damaging Het
Triml1 T C 8: 43,583,320 (GRCm39) Y427C probably damaging Het
Trpm2 A G 10: 77,770,558 (GRCm39) L720P probably damaging Het
Vmn1r60 A G 7: 5,547,912 (GRCm39) Y63H probably benign Het
Vmn2r96 T A 17: 18,818,102 (GRCm39) C560S probably damaging Het
Vps35l G C 7: 118,391,818 (GRCm39) A410P probably damaging Het
Zdhhc13 A G 7: 48,472,478 (GRCm39) 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
IGL02234:Cyp2d11 APN 15 82,274,340 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATTGTCTGAGGACTCACCAAG -3'
(R):5'- TGCCATTCTCAGCAGGTGAC -3'

Sequencing Primer
(F):5'- TCACCAAGAGAGGGCTGG -3'
(R):5'- AGGTGACTGCAATCTACTTTCTAC -3'
Posted On 2014-11-11