Incidental Mutation 'R8531:Cyp2d11'
ID 659075
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 068501-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R8531 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 82273355-82278223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82273429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 481 (Y481H)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
AlphaFold P24457
Predicted Effect probably benign
Transcript: ENSMUST00000170255
AA Change: Y481H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: Y481H

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 7.7e-140 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,950,622 (GRCm39) R1506S probably benign Het
Acox2 T C 14: 8,247,960 (GRCm38) T441A probably damaging Het
Adam6a A G 12: 113,508,917 (GRCm39) E430G probably damaging Het
Afg3l2 T C 18: 67,540,439 (GRCm39) E690G probably damaging Het
Alb A G 5: 90,611,873 (GRCm39) I101V probably benign Het
Arhgef19 T C 4: 140,976,903 (GRCm39) I493T possibly damaging Het
Btnl2 T C 17: 34,577,028 (GRCm39) M61T probably benign Het
Dennd4c T C 4: 86,744,319 (GRCm39) probably null Het
Dhx9 C A 1: 153,334,182 (GRCm39) V993F possibly damaging Het
Dlk1 A G 12: 109,424,066 (GRCm39) Q110R probably null Het
Dmp1 A C 5: 104,360,269 (GRCm39) D315A probably damaging Het
Dnah3 T C 7: 119,550,591 (GRCm39) K3243E probably damaging Het
Dsc3 T C 18: 20,101,449 (GRCm39) N648S probably benign Het
Dsc3 C T 18: 20,114,274 (GRCm39) D327N probably damaging Het
Egr4 T C 6: 85,489,106 (GRCm39) D318G probably damaging Het
Fiz1 A T 7: 5,012,163 (GRCm39) C118* probably null Het
Flad1 A C 3: 89,310,517 (GRCm39) Y479D probably damaging Het
Flnb T C 14: 7,929,939 (GRCm38) F2023S probably damaging Het
Glp1r T C 17: 31,143,531 (GRCm39) L189P probably damaging Het
Grm5 A T 7: 87,779,724 (GRCm39) T1055S probably benign Het
Gucy1a1 A G 3: 82,018,468 (GRCm39) I123T probably benign Het
Ifnar1 T A 16: 91,292,344 (GRCm39) C199* probably null Het
Lepr A T 4: 101,622,612 (GRCm39) Y464F probably damaging Het
Mamdc4 G T 2: 25,457,730 (GRCm39) Q452K possibly damaging Het
Map2k6 A G 11: 110,290,175 (GRCm39) probably benign Het
Mphosph10 T C 7: 64,034,076 (GRCm39) I429V possibly damaging Het
Neb T A 2: 52,181,074 (GRCm39) M1178L possibly damaging Het
Nherf4 T C 9: 44,159,670 (GRCm39) E442G probably damaging Het
Npc2 C A 12: 84,807,612 (GRCm39) R82L probably benign Het
Olfm5 A T 7: 103,803,029 (GRCm39) M478K probably benign Het
Or5aq6 G T 2: 86,923,670 (GRCm39) Q24K probably benign Het
Or5k14 A C 16: 58,693,016 (GRCm39) L166V probably damaging Het
Osbpl9 T C 4: 109,013,908 (GRCm39) D62G probably damaging Het
Otog C T 7: 45,901,473 (GRCm39) R391C probably damaging Het
Plppr4 T C 3: 117,115,592 (GRCm39) Y755C probably damaging Het
Pnpla8 T A 12: 44,358,368 (GRCm39) F708I possibly damaging Het
Pom121l12 A T 11: 14,549,932 (GRCm39) T213S probably benign Het
Pramel27 T A 4: 143,579,601 (GRCm39) D395E probably benign Het
Rabep1 T C 11: 70,799,332 (GRCm39) S278P probably benign Het
Rigi A G 4: 40,225,596 (GRCm39) probably null Het
Rnf213 C G 11: 119,365,031 (GRCm39) Q4563E probably benign Het
Rttn C A 18: 89,131,467 (GRCm39) R1949S probably benign Het
Rwdd3 T C 3: 120,952,788 (GRCm39) I140V probably benign Het
Serpinb6a A T 13: 34,115,462 (GRCm39) M53K probably damaging Het
Serpinb9g A T 13: 33,676,896 (GRCm39) D226V possibly damaging Het
Serpind1 A T 16: 17,160,847 (GRCm39) Y459F probably damaging Het
Skor2 T C 18: 76,946,569 (GRCm39) V97A unknown Het
Slc26a4 C T 12: 31,599,911 (GRCm39) probably null Het
Slc4a10 T C 2: 62,097,851 (GRCm39) Y517H probably damaging Het
Sphkap A G 1: 83,254,909 (GRCm39) W947R probably damaging Het
Sult3a2 T C 10: 33,653,239 (GRCm39) D167G probably damaging Het
Supt16 A T 14: 52,410,020 (GRCm39) M729K probably damaging Het
Tmem176b A G 6: 48,811,538 (GRCm39) I37T possibly damaging Het
Tmem259 A G 10: 79,813,819 (GRCm39) V423A probably damaging Het
Tmem62 G T 2: 120,837,533 (GRCm39) L483F probably damaging Het
Tnfrsf13b T C 11: 61,031,777 (GRCm39) probably null Het
Tut7 A T 13: 59,937,074 (GRCm39) I1191K probably damaging Het
Txk C A 5: 72,893,720 (GRCm39) C20F possibly damaging Het
Ube2w A C 1: 16,672,542 (GRCm39) N46K probably benign Het
Unc79 A T 12: 103,013,922 (GRCm39) H300L probably damaging Het
Unc79 T A 12: 103,049,855 (GRCm39) H920Q probably benign Het
Vmn1r16 A G 6: 57,299,900 (GRCm39) Y241H probably damaging Het
Vmn2r100 A T 17: 19,742,459 (GRCm39) I278F possibly damaging Het
Zfp260 T A 7: 29,804,884 (GRCm39) H261Q 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
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
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'- GACTATTGTCTGAGGACTCACC -3'
(R):5'- TGCCATTCTCAGCAGGTGAC -3'

Sequencing Primer
(F):5'- TCACCAAGAGAGGGCTGG -3'
(R):5'- AGGTGACTGCAATCTACTTTCTAC -3'
Posted On 2021-01-18