Incidental Mutation 'R5402:Cyp2d34'
ID 430074
Institutional Source Beutler Lab
Gene Symbol Cyp2d34
Ensembl Gene ENSMUSG00000094559
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 34
Synonyms
MMRRC Submission 042973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5402 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82500166-82505147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82503287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 69 (G69D)
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: G69D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: G69D

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 3.2e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231012
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,607,834 (GRCm39) D4079E probably benign Het
Bcar1 T C 8: 112,440,962 (GRCm39) D344G probably damaging Het
Car9 A G 4: 43,510,213 (GRCm39) N265S probably damaging Het
Ccr7 A G 11: 99,036,560 (GRCm39) S121P possibly damaging Het
Cgnl1 A G 9: 71,536,603 (GRCm39) L1278P probably damaging Het
Chst9 A T 18: 15,585,872 (GRCm39) S230R probably damaging Het
Cped1 G A 6: 22,143,951 (GRCm39) V566M probably benign Het
Csf2 A T 11: 54,138,489 (GRCm39) Y117* probably null Het
Cwf19l1 C T 19: 44,121,524 (GRCm39) probably null Het
Dync2h1 A T 9: 7,114,949 (GRCm39) V170E probably damaging Het
Ehbp1l1 T A 19: 5,766,348 (GRCm39) T388S possibly damaging Het
Etfa T C 9: 55,362,023 (GRCm39) I329M probably benign Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fmnl2 G A 2: 53,018,794 (GRCm39) V1078I probably damaging Het
Fnip2 A G 3: 79,388,250 (GRCm39) L797P possibly damaging Het
Gmeb2 A T 2: 180,897,750 (GRCm39) probably null Het
Greb1l A G 18: 10,537,169 (GRCm39) T1045A probably benign Het
Hapln1 A G 13: 89,753,530 (GRCm39) N232S probably benign Het
Hibadh A T 6: 52,523,965 (GRCm39) M311K probably benign Het
Hus1 C T 11: 8,960,240 (GRCm39) probably null Het
Il31ra T C 13: 112,660,669 (GRCm39) E640G probably benign Het
L3mbtl4 T C 17: 68,762,769 (GRCm39) F101L probably damaging Het
Lbr A T 1: 181,647,526 (GRCm39) M417K probably benign Het
Lrig3 T G 10: 125,844,609 (GRCm39) L691R probably damaging Het
Mcm3ap T A 10: 76,319,148 (GRCm39) F792Y probably benign Het
Mst1 T C 9: 107,961,408 (GRCm39) probably null Het
Nova2 C A 7: 18,692,371 (GRCm39) T500K probably damaging Het
Nxph4 A T 10: 127,362,133 (GRCm39) C253S probably damaging Het
Or2t1 T C 14: 14,328,878 (GRCm38) Y256H probably damaging Het
Or4s2b T A 2: 88,508,492 (GRCm39) S98T possibly damaging Het
Pcdhga3 G A 18: 37,808,747 (GRCm39) R400Q probably benign Het
Pidd1 C A 7: 141,018,507 (GRCm39) A915S probably damaging Het
Plat T G 8: 23,262,738 (GRCm39) W148G probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Pramel27 G A 4: 143,578,225 (GRCm39) probably null Het
Ptdss1 A G 13: 67,081,663 (GRCm39) D31G possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Samd8 A G 14: 21,825,236 (GRCm39) D64G probably damaging Het
Scgb1b20 A G 7: 33,072,656 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc25a23 T C 17: 57,360,336 (GRCm39) I269V probably benign Het
Slc35f4 A T 14: 49,556,331 (GRCm39) S141T probably damaging Het
Srgap1 T C 10: 121,621,665 (GRCm39) M966V probably benign Het
Syne2 T A 12: 76,106,213 (GRCm39) V5526E probably damaging Het
Tcaf3 A G 6: 42,568,860 (GRCm39) S596P probably benign Het
Tg T A 15: 66,611,017 (GRCm39) I356N probably damaging Het
Ttc6 C T 12: 57,783,817 (GRCm39) R1759* probably null Het
Wdsub1 T C 2: 59,700,822 (GRCm39) N138D probably benign Het
Zfp1001 A G 2: 150,204,886 (GRCm39) I67V probably benign 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
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
R6051:Cyp2d34 UTSW 15 82,500,971 (GRCm39) missense probably damaging 1.00
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'- CCACACAGCTCTTTACCTTGGG -3'
(R):5'- GACCTACTTGAGATCCAGTTCTGAC -3'

Sequencing Primer
(F):5'- GGGATTTGCTCTTAAAACCTAGG -3'
(R):5'- CTGACTTCCTTTGGTAATGAACAGC -3'
Posted On 2016-09-06