Incidental Mutation 'R5356:Cyp2d11'
ID 424128
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 042935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5356 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82273355-82278223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82274712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 288 (N288K)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
AlphaFold P24457
Predicted Effect probably benign
Transcript: ENSMUST00000170255
AA Change: N288K

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: N288K

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 C T 3: 37,119,405 (GRCm39) T162I probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Amn1 T C 6: 149,068,392 (GRCm39) I205M possibly damaging Het
Ankrd50 A C 3: 38,510,334 (GRCm39) S678A probably damaging Het
Atg13 G A 2: 91,522,811 (GRCm39) R78* probably null Het
Bmper T G 9: 23,285,157 (GRCm39) F235L probably benign Het
Btn2a2 C T 13: 23,667,045 (GRCm39) V187I probably benign Het
Cabs1 G A 5: 88,127,492 (GRCm39) V48I probably benign Het
Cacnb3 A G 15: 98,539,498 (GRCm39) I212V probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cep162 T C 9: 87,088,948 (GRCm39) E978G probably damaging Het
Cmya5 A T 13: 93,199,993 (GRCm39) L3445Q probably damaging Het
Cntrl T A 2: 35,038,911 (GRCm39) L1067* probably null Het
Cyp20a1 G A 1: 60,418,546 (GRCm39) V329I probably benign Het
D430041D05Rik T G 2: 104,085,754 (GRCm39) T932P probably damaging Het
Dlk1 T A 12: 109,421,447 (GRCm39) C54S probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Entpd6 T A 2: 150,612,303 (GRCm39) F416L probably damaging Het
Evx1 A G 6: 52,293,602 (GRCm39) T257A probably benign Het
Fpr-rs3 A T 17: 20,844,596 (GRCm39) S182T probably damaging Het
Glra3 A T 8: 56,393,936 (GRCm39) I16F probably benign Het
Gm11437 C A 11: 84,043,513 (GRCm39) L259F possibly damaging Het
Gorasp1 A T 9: 119,757,024 (GRCm39) L386Q probably damaging Het
Gpsm1 T C 2: 26,230,574 (GRCm39) V508A possibly damaging Het
Gstm1 T A 3: 107,920,052 (GRCm39) I180F probably benign Het
Hc T C 2: 34,885,007 (GRCm39) D1400G probably benign Het
Lrp2 A G 2: 69,295,052 (GRCm39) V3422A possibly damaging Het
Map3k4 A G 17: 12,466,195 (GRCm39) V1128A possibly damaging Het
Mboat2 G C 12: 25,007,572 (GRCm39) V363L probably benign Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mgat3 A G 15: 80,095,811 (GRCm39) I213V possibly damaging Het
Mtf2 A T 5: 108,254,476 (GRCm39) T426S possibly damaging Het
Muc3a T C 5: 137,245,021 (GRCm39) I151V probably benign Het
Myh6 T C 14: 55,191,219 (GRCm39) E874G probably damaging Het
Myo15a G A 11: 60,389,192 (GRCm39) G2030R probably damaging Het
Ncdn T C 4: 126,641,021 (GRCm39) Y493C probably damaging Het
Ncoa6 A G 2: 155,263,112 (GRCm39) F441L probably damaging Het
Ndc80 A T 17: 71,828,103 (GRCm39) S75T possibly damaging Het
Nf1 T C 11: 79,364,282 (GRCm39) F1571L possibly damaging Het
Nherf2 A G 17: 24,860,945 (GRCm39) V88A probably damaging Het
Nme8 A G 13: 19,836,469 (GRCm39) F236L probably damaging Het
Nsmce4a C A 7: 130,138,778 (GRCm39) V289L probably damaging Het
Ntrk2 A T 13: 59,208,056 (GRCm39) D634V probably damaging Het
Pcsk6 G C 7: 65,620,340 (GRCm39) E479Q probably damaging Het
Pkd1 A G 17: 24,812,551 (GRCm39) Q3828R probably damaging Het
Ptov1 T A 7: 44,514,089 (GRCm39) T295S probably damaging Het
Ptprf A G 4: 118,083,535 (GRCm39) M824T probably benign Het
Rbm6 T A 9: 107,729,865 (GRCm39) H129L probably damaging Het
Rbm8a2 A G 1: 175,806,255 (GRCm39) I74T possibly damaging Het
Ret A G 6: 118,174,079 (GRCm39) S6P possibly damaging Het
Rspo3 A T 10: 29,376,064 (GRCm39) C70* probably null Het
Sike1 C A 3: 102,909,106 (GRCm39) A202D possibly damaging Het
Slco4c1 G T 1: 96,759,835 (GRCm39) P499H probably damaging Het
Smg1 A G 7: 117,794,356 (GRCm39) probably benign Het
Tmem135 A G 7: 88,954,723 (GRCm39) V98A probably benign Het
Tor4a T A 2: 25,085,918 (GRCm39) probably null Het
Txlna A G 4: 129,524,166 (GRCm39) F397S probably damaging Het
Tyk2 A G 9: 21,027,040 (GRCm39) I581T probably benign Het
Unc13a C T 8: 72,115,158 (GRCm39) D164N probably benign Het
Vwa3b T C 1: 37,153,664 (GRCm39) I502T probably damaging Het
Xrcc6 A G 15: 81,913,419 (GRCm39) T6A probably benign Het
Zfp524 T C 7: 5,021,432 (GRCm39) V320A probably benign 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
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'- TCAAGTCACTGGGGATTGTGC -3'
(R):5'- TGTCCTGGGAACAATGGGAG -3'

Sequencing Primer
(F):5'- CACTGGGGATTGTGCCTCTAC -3'
(R):5'- AGGCCGTGCAGTACTTCCTC -3'
Posted On 2016-08-04