Incidental Mutation 'R6051:Cyp2d34'
ID 484114
Institutional Source Beutler Lab
Gene Symbol Cyp2d34
Ensembl Gene ENSMUSG00000094559
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 34
Synonyms
MMRRC Submission 044219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 82500166-82505147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82500971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 387 (V387D)
Ref Sequence ENSEMBL: ENSMUSP00000105141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109515] [ENSMUST00000229833]
AlphaFold L7N463
Predicted Effect probably damaging
Transcript: ENSMUST00000109515
AA Change: V387D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: V387D

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 3.2e-141 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184667
Predicted Effect probably benign
Transcript: ENSMUST00000229833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231012
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,231,304 (GRCm39) A1021S possibly damaging Het
Abl2 A G 1: 156,469,655 (GRCm39) D869G probably damaging Het
Adamts9 G A 6: 92,836,907 (GRCm39) A615V possibly damaging Het
Adamts9 A G 6: 92,867,099 (GRCm39) Y96H probably damaging Het
Arhgef37 A G 18: 61,640,345 (GRCm39) I238T probably damaging Het
Atr T A 9: 95,790,422 (GRCm39) H1587Q possibly damaging Het
BB014433 T C 8: 15,092,179 (GRCm39) T225A possibly damaging Het
Bcas2 T C 3: 103,081,657 (GRCm39) Y87H possibly damaging Het
Brca1 C T 11: 101,415,072 (GRCm39) E160K probably damaging Het
Cd2ap T C 17: 43,107,219 (GRCm39) *638W probably null Het
Chd2 A T 7: 73,085,590 (GRCm39) D1681E probably benign Het
Cit C T 5: 115,984,464 (GRCm39) P12L probably benign Het
Cracdl G T 1: 37,663,306 (GRCm39) P864Q probably damaging Het
Crisp1 T C 17: 40,616,017 (GRCm39) Y120C possibly damaging Het
Cyp2c65 A G 19: 39,049,610 (GRCm39) D46G probably benign Het
E130311K13Rik T C 3: 63,823,062 (GRCm39) H194R probably benign Het
Egfr C A 11: 16,833,607 (GRCm39) T625N possibly damaging Het
Fat3 A G 9: 16,286,751 (GRCm39) V924A possibly damaging Het
Fgd6 T C 10: 93,973,427 (GRCm39) probably null Het
Galnt6 A T 15: 100,592,549 (GRCm39) C553S probably damaging Het
Gm5617 T C 9: 48,407,187 (GRCm39) L107P possibly damaging Het
Hectd1 G T 12: 51,800,887 (GRCm39) T2035N probably benign Het
Hp1bp3 A G 4: 137,961,615 (GRCm39) T154A possibly damaging Het
Il10rb A G 16: 91,218,752 (GRCm39) T262A probably benign Het
Kansl1l A T 1: 66,765,885 (GRCm39) N704K probably null Het
Kbtbd12 T C 6: 88,594,930 (GRCm39) D300G possibly damaging Het
Lama4 G A 10: 38,943,898 (GRCm39) A734T probably benign Het
Mllt6 G T 11: 97,571,569 (GRCm39) G1069* probably null Het
Mns1 T C 9: 72,356,735 (GRCm39) L302P probably damaging Het
Muc5ac T A 7: 141,365,594 (GRCm39) C2039S possibly damaging Het
Myof A G 19: 38,012,809 (GRCm39) L42P probably damaging Het
Ncoa3 T C 2: 165,900,685 (GRCm39) L868S probably damaging Het
Ndc80 C T 17: 71,824,573 (GRCm39) G212E probably benign Het
Ntn4 A G 10: 93,581,657 (GRCm39) H610R probably benign Het
Nufip2 T A 11: 77,582,742 (GRCm39) Y219N probably damaging Het
Or51m1 T C 7: 103,578,084 (GRCm39) F18S probably damaging Het
Pbxip1 T C 3: 89,350,477 (GRCm39) S41P probably benign Het
Phactr2 A T 10: 13,137,555 (GRCm39) C196S probably null Het
Ppp3ca T A 3: 136,581,883 (GRCm39) Y140N probably damaging Het
Ptprb C A 10: 116,176,995 (GRCm39) Y1260* probably null Het
Rap1a C T 3: 105,657,613 (GRCm39) R2H possibly damaging Het
Rbbp8 G A 18: 11,871,664 (GRCm39) V794I probably benign Het
Rbks T C 5: 31,809,163 (GRCm39) N200S probably damaging Het
Relch G T 1: 105,648,997 (GRCm39) G712V probably damaging Het
Rnf186 G T 4: 138,695,277 (GRCm39) K272N probably damaging Het
Rtl1 G A 12: 109,559,458 (GRCm39) P794S probably damaging Het
Tbc1d30 T A 10: 121,132,750 (GRCm39) I205F probably damaging Het
Tkt C T 14: 30,290,153 (GRCm39) P261S probably benign Het
Trp53 G A 11: 69,480,434 (GRCm39) R267H possibly damaging Het
Ttc14 T C 3: 33,863,073 (GRCm39) probably benign Het
Ttn A G 2: 76,737,805 (GRCm39) S4245P probably benign Het
Vmn1r75 A T 7: 11,614,978 (GRCm39) I237F probably damaging Het
Vmn2r57 T A 7: 41,097,896 (GRCm39) H57L probably benign Het
Wdr62 T C 7: 29,960,809 (GRCm39) N40S possibly damaging Het
Xcr1 A T 9: 123,685,181 (GRCm39) F194I probably benign Het
Zmiz1 T A 14: 25,572,494 (GRCm39) M1K probably null Het
Other mutations in Cyp2d34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Cyp2d34 APN 15 82,501,736 (GRCm39) missense probably damaging 0.96
IGL00914:Cyp2d34 APN 15 82,504,915 (GRCm39) missense probably damaging 0.98
IGL01347:Cyp2d34 APN 15 82,500,978 (GRCm39) missense possibly damaging 0.89
IGL01354:Cyp2d34 APN 15 82,501,823 (GRCm39) missense probably benign 0.00
IGL01681:Cyp2d34 APN 15 82,501,332 (GRCm39) critical splice donor site probably null
IGL01733:Cyp2d34 APN 15 82,502,861 (GRCm39) missense possibly damaging 0.73
IGL02231:Cyp2d34 APN 15 82,502,807 (GRCm39) missense probably benign 0.44
IGL02425:Cyp2d34 APN 15 82,502,480 (GRCm39) missense probably benign
IGL03219:Cyp2d34 APN 15 82,502,740 (GRCm39) missense probably benign 0.01
R0684:Cyp2d34 UTSW 15 82,501,751 (GRCm39) missense probably benign 0.06
R0811:Cyp2d34 UTSW 15 82,502,807 (GRCm39) missense probably benign 0.44
R0812:Cyp2d34 UTSW 15 82,502,807 (GRCm39) missense probably benign 0.44
R1617:Cyp2d34 UTSW 15 82,505,046 (GRCm39) missense probably benign 0.21
R1756:Cyp2d34 UTSW 15 82,501,725 (GRCm39) missense probably damaging 1.00
R1827:Cyp2d34 UTSW 15 82,500,295 (GRCm39) missense probably benign 0.00
R1962:Cyp2d34 UTSW 15 82,502,809 (GRCm39) missense probably benign 0.10
R2102:Cyp2d34 UTSW 15 82,500,974 (GRCm39) missense probably benign 0.17
R2113:Cyp2d34 UTSW 15 82,501,817 (GRCm39) missense probably damaging 1.00
R2432:Cyp2d34 UTSW 15 82,503,212 (GRCm39) missense probably damaging 1.00
R2566:Cyp2d34 UTSW 15 82,500,368 (GRCm39) missense probably damaging 1.00
R3154:Cyp2d34 UTSW 15 82,501,767 (GRCm39) missense probably benign 0.04
R3834:Cyp2d34 UTSW 15 82,500,947 (GRCm39) critical splice donor site probably null
R3881:Cyp2d34 UTSW 15 82,502,818 (GRCm39) missense probably benign 0.00
R4022:Cyp2d34 UTSW 15 82,502,809 (GRCm39) missense probably benign 0.10
R4181:Cyp2d34 UTSW 15 82,501,486 (GRCm39) splice site probably null
R4613:Cyp2d34 UTSW 15 82,500,526 (GRCm39) missense probably damaging 0.98
R4636:Cyp2d34 UTSW 15 82,504,929 (GRCm39) missense probably damaging 1.00
R4695:Cyp2d34 UTSW 15 82,501,092 (GRCm39) missense probably benign
R4993:Cyp2d34 UTSW 15 82,502,530 (GRCm39) missense probably damaging 1.00
R5262:Cyp2d34 UTSW 15 82,502,572 (GRCm39) missense probably damaging 1.00
R5402:Cyp2d34 UTSW 15 82,503,287 (GRCm39) missense probably damaging 1.00
R5772:Cyp2d34 UTSW 15 82,501,341 (GRCm39) missense probably null 0.24
R5874:Cyp2d34 UTSW 15 82,503,243 (GRCm39) missense probably benign 0.04
R6057:Cyp2d34 UTSW 15 82,500,552 (GRCm39) missense probably benign
R6143:Cyp2d34 UTSW 15 82,504,977 (GRCm39) missense probably benign 0.25
R6452:Cyp2d34 UTSW 15 82,500,290 (GRCm39) missense probably benign 0.00
R7296:Cyp2d34 UTSW 15 82,501,436 (GRCm39) missense possibly damaging 0.87
R7391:Cyp2d34 UTSW 15 82,502,587 (GRCm39) missense probably benign 0.14
R7398:Cyp2d34 UTSW 15 82,500,964 (GRCm39) missense probably benign 0.04
R7867:Cyp2d34 UTSW 15 82,501,425 (GRCm39) missense possibly damaging 0.95
R8022:Cyp2d34 UTSW 15 82,500,315 (GRCm39) nonsense probably null
R8270:Cyp2d34 UTSW 15 82,504,988 (GRCm39) missense possibly damaging 0.55
R8365:Cyp2d34 UTSW 15 82,504,874 (GRCm39) missense probably damaging 0.99
R8691:Cyp2d34 UTSW 15 82,502,471 (GRCm39) missense probably benign 0.00
R8974:Cyp2d34 UTSW 15 82,500,537 (GRCm39) missense probably damaging 1.00
R9036:Cyp2d34 UTSW 15 82,500,523 (GRCm39) missense probably damaging 1.00
R9226:Cyp2d34 UTSW 15 82,504,901 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCATCCCTGTGTTCAATGC -3'
(R):5'- TGTCACGCTAGGTAGAGTTCAAC -3'

Sequencing Primer
(F):5'- GTGTTCAATGCTCCATAAAGTGTCC -3'
(R):5'- TTCAACAGGAAATCGATGCAGTC -3'
Posted On 2017-07-14