Incidental Mutation 'R3745:Cyp2d11'
ID 271187
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 040731-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R3745 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82273355-82278223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 82276056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 175 (I175S)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
AlphaFold P24457
Predicted Effect probably benign
Transcript: ENSMUST00000170255
AA Change: I175S

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: I175S

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 7.7e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183858
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot9 G A X: 154,054,941 (GRCm39) probably benign Het
Akap10 A G 11: 61,806,131 (GRCm39) V199A probably benign Het
Aox4 C T 1: 58,285,029 (GRCm39) H594Y probably damaging Het
Arhgap35 A T 7: 16,297,647 (GRCm39) Y473N probably damaging Het
Aspn G A 13: 49,720,036 (GRCm39) E351K probably damaging Het
Astn1 G T 1: 158,329,630 (GRCm39) A162S probably damaging Het
Atosa T C 9: 74,917,144 (GRCm39) V581A probably benign Het
Auts2 A G 5: 131,505,425 (GRCm39) probably benign Het
Cog6 A T 3: 52,900,240 (GRCm39) M507K probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Dclk1 A G 3: 55,154,863 (GRCm39) N98D possibly damaging Het
Erich5 T A 15: 34,470,878 (GRCm39) C36S probably damaging Het
F5 A G 1: 164,014,348 (GRCm39) I540V possibly damaging Het
Fam20a A T 11: 109,568,616 (GRCm39) S303R probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gbp9 C A 5: 105,253,724 (GRCm39) probably benign Het
Gm6408 G T 5: 146,421,246 (GRCm39) V292F probably damaging Het
Kmt2a A G 9: 44,742,637 (GRCm39) probably benign Het
Lrriq1 T C 10: 103,006,717 (GRCm39) D1136G probably damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Mlkl A G 8: 112,042,199 (GRCm39) probably benign Het
Msantd1 T A 5: 35,080,811 (GRCm39) V155E possibly damaging Het
Myo3b A G 2: 70,064,829 (GRCm39) probably benign Het
Nbn T A 4: 15,976,163 (GRCm39) C375S possibly damaging Het
Nell2 A C 15: 95,330,554 (GRCm39) C231W probably damaging Het
Nipbl A G 15: 8,388,358 (GRCm39) S421P probably benign Het
Npr3 A T 15: 11,905,577 (GRCm39) V50E probably damaging Het
Or4d10 A G 19: 12,051,744 (GRCm39) L84P probably damaging Het
Pclo T C 5: 14,728,435 (GRCm39) probably benign Het
Pkn3 A G 2: 29,980,353 (GRCm39) K785R probably damaging Het
Ppef2 T A 5: 92,387,010 (GRCm39) probably benign Het
Prdm10 T C 9: 31,251,703 (GRCm39) I357T possibly damaging Het
Prrc2c G A 1: 162,525,754 (GRCm39) T284I unknown Het
Psma3 T C 12: 71,025,522 (GRCm39) S13P possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rpl6l T C 10: 110,962,226 (GRCm39) noncoding transcript Het
Tex11 A G X: 99,960,178 (GRCm39) V522A probably benign Het
Thsd7b A G 1: 129,605,978 (GRCm39) E573G probably benign Het
Tom1l1 A G 11: 90,548,567 (GRCm39) S259P probably benign Het
Trpm8 A G 1: 88,276,049 (GRCm39) E549G probably benign Het
Vmn1r66 C T 7: 10,008,248 (GRCm39) A262T possibly damaging Het
Zc3h13 T A 14: 75,568,101 (GRCm39) D1131E probably benign Het
Zfp445 A C 9: 122,683,791 (GRCm39) D289E 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
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'- ACAGAAGTGTCTCTGTAGGCTG -3'
(R):5'- AGGCGATTCTCTGTGTCTACC -3'

Sequencing Primer
(F):5'- TCTGTAGGCTGCCCTGAAC -3'
(R):5'- TTCGGCCTGGGCAAGAAATC -3'
Posted On 2015-03-18