Incidental Mutation 'R8122:Cyp2d11'
ID 631573
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 067551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R8122 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 82273355-82278223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82276744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 65 (Q65L)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
AlphaFold P24457
Predicted Effect probably benign
Transcript: ENSMUST00000170255
AA Change: Q65L

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: Q65L

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 7.7e-140 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.5%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,433,761 (GRCm39) Y426C probably damaging Het
Acsbg3 T A 17: 57,193,670 (GRCm39) V672E possibly damaging Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ahnak2 T C 12: 112,742,510 (GRCm39) S521G possibly damaging Het
Amer2 A T 14: 60,616,791 (GRCm39) M329L possibly damaging Het
Arhgap20 A G 9: 51,761,293 (GRCm39) N1048S probably damaging Het
Asah1 T C 8: 41,796,767 (GRCm39) E305G probably benign Het
AW551984 T A 9: 39,510,665 (GRCm39) K223N probably damaging Het
Bptf C A 11: 106,927,417 (GRCm39) probably null Het
C1qtnf6 T C 15: 78,411,446 (GRCm39) N77D probably benign Het
Capn13 T A 17: 73,674,205 (GRCm39) I83F probably damaging Het
Cd6 A G 19: 10,770,231 (GRCm39) F487L probably damaging Het
Cit T C 5: 116,107,069 (GRCm39) V1067A probably damaging Het
Cspg4b A T 13: 113,455,442 (GRCm39) D496V Het
Csrnp1 T C 9: 119,802,273 (GRCm39) D262G probably damaging Het
Dbt T A 3: 116,313,891 (GRCm39) C19* probably null Het
Dgkg A C 16: 22,385,295 (GRCm39) probably null Het
Eif4g2 T C 7: 110,677,760 (GRCm39) I118V possibly damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Kcnn2 T G 18: 45,810,005 (GRCm39) V414G probably damaging Het
Lama2 G A 10: 26,930,592 (GRCm39) H2055Y possibly damaging Het
Loxl3 T A 6: 83,026,240 (GRCm39) W443R probably damaging Het
Mab21l1 A T 3: 55,690,905 (GRCm39) D164V probably benign Het
Mroh7 T C 4: 106,559,726 (GRCm39) T734A probably damaging Het
Or2y1f C A 11: 49,184,401 (GRCm39) N84K probably damaging Het
Or8g35 A G 9: 39,381,822 (GRCm39) S67P probably damaging Het
Pkhd1 C T 1: 20,632,682 (GRCm39) E578K probably damaging Het
Pld2 T A 11: 70,432,259 (GRCm39) L126* probably null Het
Polk A T 13: 96,620,291 (GRCm39) N716K probably benign Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prom1 T C 5: 44,170,295 (GRCm39) K669E probably benign Het
Sag A G 1: 87,762,289 (GRCm39) D318G probably damaging Het
Scfd1 T A 12: 51,480,052 (GRCm39) V528E possibly damaging Het
Scn4a A G 11: 106,221,157 (GRCm39) L834P probably benign Het
Shank1 G T 7: 43,983,015 (GRCm39) G637V unknown Het
Slc12a6 A G 2: 112,097,167 (GRCm39) M1V probably null Het
St6gal1 A G 16: 23,173,644 (GRCm39) K242R probably benign Het
Syt3 A G 7: 44,045,153 (GRCm39) Y495C probably damaging Het
Taar8c C T 10: 23,977,107 (GRCm39) S235N probably benign Het
Tmem183a A T 1: 134,282,503 (GRCm39) C201S probably benign Het
Top2a T C 11: 98,889,993 (GRCm39) I1237V probably benign Het
Trub1 G T 19: 57,473,563 (GRCm39) V207L probably benign Het
Ttll13 T A 7: 79,909,217 (GRCm39) I634N probably benign Het
Ube2j1 T G 4: 33,045,145 (GRCm39) N208K probably benign Het
Wdr17 A G 8: 55,118,011 (GRCm39) S569P probably damaging 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
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
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'- TTTACCTTGGGATCCAGGCTTC -3'
(R):5'- CTGTGCACACTCACTTTCACAG -3'

Sequencing Primer
(F):5'- TTGGGATCCAGGCTTCACACC -3'
(R):5'- GAGATCCAGCTGTAAGGCATTTTCC -3'
Posted On 2020-06-30