Incidental Mutation 'R1708:Cyp2d11'
ID 190256
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 039741-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R1708 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82273355-82278223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82274633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 315 (T315A)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
AlphaFold P24457
Predicted Effect probably benign
Transcript: ENSMUST00000170255
AA Change: T315A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: T315A

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,941,732 (GRCm39) I4F probably benign Het
Aadacl4fm1 T C 4: 144,246,511 (GRCm39) V19A probably benign Het
Abca8a A T 11: 109,943,928 (GRCm39) S1114T probably damaging Het
Adgre1 A T 17: 57,708,974 (GRCm39) Y55F possibly damaging Het
Alb A C 5: 90,611,910 (GRCm39) D113A possibly damaging Het
Ankrd33b C T 15: 31,305,155 (GRCm39) R203Q probably damaging Het
Aqp6 T C 15: 99,500,543 (GRCm39) V156A possibly damaging Het
AU018091 T C 7: 3,206,184 (GRCm39) S616G probably damaging Het
Cfd T A 10: 79,727,441 (GRCm39) D68E probably benign Het
Cntn2 C T 1: 132,446,936 (GRCm39) A725T probably damaging Het
Copg2 A C 6: 30,801,312 (GRCm39) D373E probably damaging Het
Cyp2j13 G T 4: 95,950,304 (GRCm39) N232K probably damaging Het
Cyp2j8 A T 4: 96,387,832 (GRCm39) F210I probably damaging Het
Dnah9 G A 11: 65,805,980 (GRCm39) T3373M probably benign Het
Eif2ak3 A G 6: 70,864,790 (GRCm39) K549E probably damaging Het
Epha3 C T 16: 63,403,870 (GRCm39) V744I probably damaging Het
Erich6 T C 3: 58,523,868 (GRCm39) S669G probably benign Het
Fam90a1a A T 8: 22,451,464 (GRCm39) K108N probably damaging Het
Fat1 G A 8: 45,477,829 (GRCm39) V2292M probably damaging Het
Fibp T C 19: 5,513,822 (GRCm39) C255R probably null Het
Fzd1 A G 5: 4,805,791 (GRCm39) V597A possibly damaging Het
Gm12790 G A 4: 101,825,174 (GRCm39) A80V possibly damaging Het
Gm2381 A T 7: 42,469,649 (GRCm39) N158K probably benign Het
Impg2 T A 16: 56,085,441 (GRCm39) D940E probably benign Het
Ints1 A T 5: 139,748,594 (GRCm39) V1071E probably damaging Het
Kat5 A T 19: 5,659,507 (GRCm39) Y44* probably null Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klra6 A C 6: 129,999,677 (GRCm39) L97* probably null Het
Ly6c2 C T 15: 74,983,469 (GRCm39) probably null Het
Mon1a G A 9: 107,775,917 (GRCm39) E12K probably benign Het
Myo3b A T 2: 70,075,729 (GRCm39) K578* probably null Het
Myrip A T 9: 120,293,840 (GRCm39) R778S possibly damaging Het
Ncoa4-ps A G 12: 119,225,968 (GRCm39) noncoding transcript Het
Or2w4 C T 13: 21,795,240 (GRCm39) A300T probably damaging Het
Or3a4 G A 11: 73,944,814 (GRCm39) T257I probably damaging Het
Or4c35 A G 2: 89,808,382 (GRCm39) R87G probably benign Het
Or52n4b T A 7: 108,143,781 (GRCm39) F14L probably benign Het
Or5b121 T C 19: 13,507,277 (GRCm39) V80A probably damaging Het
Panx3 T C 9: 37,572,687 (GRCm39) I288V probably benign Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pigc T A 1: 161,798,293 (GRCm39) S92T probably benign Het
Pou3f2 C A 4: 22,487,255 (GRCm39) V293L possibly damaging Het
Rbm15 A G 3: 107,238,536 (GRCm39) S621P probably damaging Het
Rnf220 T C 4: 117,347,083 (GRCm39) S110G probably benign Het
Rnf38 A T 4: 44,143,593 (GRCm39) V115D probably damaging Het
Rps6ka2 A G 17: 7,544,929 (GRCm39) H347R probably damaging Het
Ryr2 T C 13: 11,602,328 (GRCm39) probably null Het
Sema4f G T 6: 82,894,975 (GRCm39) P407T probably damaging Het
Setbp1 T C 18: 78,901,682 (GRCm39) T662A probably damaging Het
Slc27a1 C A 8: 72,037,274 (GRCm39) probably null Het
Slc41a2 T A 10: 83,069,596 (GRCm39) I519F probably damaging Het
Sntg2 C T 12: 30,423,179 (GRCm39) S17N possibly damaging Het
Sptb A G 12: 76,659,348 (GRCm39) L1184P probably damaging Het
Taf5l G A 8: 124,736,509 (GRCm39) Q21* probably null Het
Tbc1d32 A C 10: 56,027,865 (GRCm39) S746A possibly damaging Het
Tdrd1 T G 19: 56,830,721 (GRCm39) S251R probably benign Het
Thap7 C T 16: 17,346,814 (GRCm39) R121Q probably benign Het
Tmem50a A G 4: 134,625,779 (GRCm39) V146A probably benign Het
Tmprss15 T C 16: 78,850,958 (GRCm39) I327V possibly damaging Het
Tmt1a3 A G 15: 100,233,150 (GRCm39) N114D probably damaging Het
Ttc23 T C 7: 67,316,924 (GRCm39) I65T probably damaging Het
Vmn1r22 G T 6: 57,877,481 (GRCm39) H165Q possibly damaging Het
Vopp1 C T 6: 57,739,497 (GRCm39) R17H probably damaging Het
Vwa5a A G 9: 38,639,128 (GRCm39) K337E probably benign Het
Wrap53 G A 11: 69,454,761 (GRCm39) R203* probably null Het
Zfp944 T C 17: 22,558,026 (GRCm39) Y407C 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
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
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'- ATGCTGCACTTGCCCTATGACC -3'
(R):5'- AAGTAACTCAGCACCTGGGCTGTC -3'

Sequencing Primer
(F):5'- GGGGACTTCCCTGTCTTACAAC -3'
(R):5'- gcctcaagctcagaaattcac -3'
Posted On 2014-05-14