Incidental Mutation 'R5874:Cyp2d34'
ID 455417
Institutional Source Beutler Lab
Gene Symbol Cyp2d34
Ensembl Gene ENSMUSG00000094559
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 34
Synonyms
MMRRC Submission 044081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5874 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82500166-82505147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82503243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 74 (D74V)
Ref Sequence ENSEMBL: ENSMUSP00000155117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109515] [ENSMUST00000229833]
AlphaFold L7N463
Predicted Effect probably benign
Transcript: ENSMUST00000109515
AA Change: I84F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: I84F

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 3.2e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229833
AA Change: D74V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231012
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 98% (86/88)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G A 7: 29,280,610 (GRCm39) noncoding transcript Het
Adam17 T C 12: 21,379,087 (GRCm39) D654G possibly damaging Het
Ankhd1 A T 18: 36,773,322 (GRCm39) H1373L possibly damaging Het
Ankrd17 T C 5: 90,416,656 (GRCm39) probably benign Het
Calu A G 6: 29,372,617 (GRCm39) D112G probably damaging Het
Camk2a G C 18: 61,076,272 (GRCm39) probably benign Het
Cpn1 C A 19: 43,944,951 (GRCm39) R452L probably benign Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Ctnna2 T C 6: 76,879,413 (GRCm39) T824A probably benign Het
Cuedc2 C T 19: 46,319,824 (GRCm39) V164M possibly damaging Het
Ddi2 A G 4: 141,422,780 (GRCm39) S311P probably damaging Het
Ddx10 A C 9: 53,140,498 (GRCm39) I301R possibly damaging Het
Dmpk T C 7: 18,826,007 (GRCm39) probably benign Het
Dnah7b C T 1: 46,230,885 (GRCm39) T1381I probably damaging Het
Dst T A 1: 34,218,670 (GRCm39) N1703K probably damaging Het
Dtwd1 T A 2: 126,000,359 (GRCm39) H98Q probably damaging Het
Ecel1 A C 1: 87,075,731 (GRCm39) V769G probably benign Het
Eno4 T C 19: 58,935,238 (GRCm39) V150A probably benign Het
Evc2 C T 5: 37,574,883 (GRCm39) probably benign Het
Ext1 T A 15: 52,965,148 (GRCm39) Q406L possibly damaging Het
Foxf2 A G 13: 31,810,775 (GRCm39) H238R probably benign Het
Frem2 C G 3: 53,444,910 (GRCm39) G2407A probably benign Het
Fzd10 A G 5: 128,678,364 (GRCm39) E28G probably benign Het
Galnt15 T C 14: 31,774,324 (GRCm39) F363L probably damaging Het
Gm1758 C T 16: 14,325,037 (GRCm39) noncoding transcript Het
Gm5866 C T 5: 52,739,956 (GRCm39) noncoding transcript Het
Heatr9 T A 11: 83,405,426 (GRCm39) M345L probably benign Het
Il23r A T 6: 67,408,629 (GRCm39) F404Y possibly damaging Het
Lrrc8a T C 2: 30,147,148 (GRCm39) I654T probably damaging Het
Napg A T 18: 63,111,091 (GRCm39) K18* probably null Het
Ndst3 A T 3: 123,355,556 (GRCm39) W573R probably damaging Het
Nin T C 12: 70,077,692 (GRCm39) S1038G possibly damaging Het
Nudt12 T A 17: 59,317,279 (GRCm39) R123* probably null Het
Oas1g T A 5: 121,015,081 (GRCm39) N361Y probably benign Het
Or5p51 T A 7: 107,444,377 (GRCm39) I188L probably benign Het
Or7a35 T A 10: 78,853,191 (GRCm39) F12I possibly damaging Het
Or8h10 A T 2: 86,808,786 (GRCm39) M118K probably damaging Het
Osbpl10 T C 9: 115,055,828 (GRCm39) F667L probably damaging Het
Phldb2 T C 16: 45,621,988 (GRCm39) D664G probably damaging Het
Piezo2 C T 18: 63,160,972 (GRCm39) V2263M probably damaging Het
Pkd1l1 A G 11: 8,858,688 (GRCm39) L615P probably damaging Het
Pnpla7 G A 2: 24,901,661 (GRCm39) M562I probably benign Het
Pou2af2 A T 9: 51,201,672 (GRCm39) L128* probably null Het
Ppp1r13b C A 12: 111,811,423 (GRCm39) R155L probably damaging Het
Pygb C T 2: 150,628,798 (GRCm39) P4L probably benign Het
Rbm44 T C 1: 91,084,562 (GRCm39) probably null Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Rin3 A G 12: 102,356,102 (GRCm39) Y801C probably damaging Het
Rnf112 A G 11: 61,340,273 (GRCm39) V619A probably damaging Het
Rnf182 A G 13: 43,821,563 (GRCm39) E38G probably benign Het
Scgb2b24 T A 7: 33,436,830 (GRCm39) Y94F probably damaging Het
Serac1 C A 17: 6,094,188 (GRCm39) probably benign Het
Shld2 T C 14: 33,967,215 (GRCm39) T114A probably benign Het
Slc6a19 A T 13: 73,832,487 (GRCm39) V402D probably damaging Het
Slco1a8 A T 6: 141,917,961 (GRCm39) H638Q probably benign Het
Slco2b1 T A 7: 99,316,301 (GRCm39) M410L probably benign Het
Smarca2 T C 19: 26,753,469 (GRCm39) probably benign Het
Sned1 A G 1: 93,193,067 (GRCm39) Y409C probably damaging Het
Sorcs2 A G 5: 36,386,555 (GRCm39) V161A probably damaging Het
Spring1 T C 5: 118,397,504 (GRCm39) V162A probably damaging Het
Sptb T C 12: 76,645,501 (GRCm39) E2029G possibly damaging Het
Stx7 T A 10: 24,058,659 (GRCm39) probably null Het
Taf4b T C 18: 14,937,611 (GRCm39) V228A probably benign Het
Tbc1d1 A G 5: 64,507,273 (GRCm39) *1163W probably null Het
Tor4a G A 2: 25,084,847 (GRCm39) A352V probably damaging Het
Trpm4 A G 7: 44,977,173 (GRCm39) F81S probably damaging Het
Ttn T A 2: 76,780,436 (GRCm39) D1105V probably damaging Het
Vcf1 T A 11: 113,568,220 (GRCm39) R78S probably damaging Het
Yju2b T A 8: 84,985,177 (GRCm39) D364V possibly damaging Het
Zfp551 A G 7: 12,150,101 (GRCm39) L436P probably damaging Het
Zfp975 G T 7: 42,312,312 (GRCm39) D100E probably benign Het
Zswim3 A G 2: 164,662,032 (GRCm39) I171V probably benign Het
Zwint C T 10: 72,492,294 (GRCm39) 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
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
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'- ACCCACATTTATGCCCCATG -3'
(R):5'- GATGAATAAACCCTTTCCTCCCCAG -3'

Sequencing Primer
(F):5'- ATGCCCCATGCTTCCTTGG -3'
(R):5'- CCAGCTTGGTTCTTGGTCATGAAG -3'
Posted On 2017-02-10