Incidental Mutation 'R4695:Cyp2d34'
ID 355656
Institutional Source Beutler Lab
Gene Symbol Cyp2d34
Ensembl Gene ENSMUSG00000094559
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 34
Synonyms
MMRRC Submission 042016-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4695 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82500166-82505147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82501092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 347 (C347S)
Ref Sequence ENSEMBL: ENSMUSP00000105141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109515] [ENSMUST00000229833]
AlphaFold L7N463
Predicted Effect probably benign
Transcript: ENSMUST00000109515
AA Change: C347S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: C347S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,750,713 (GRCm39) M251K possibly damaging Het
Adcy2 A T 13: 68,875,962 (GRCm39) H513Q possibly damaging Het
Afg2a T G 3: 37,512,474 (GRCm39) F713C probably damaging Het
Ahctf1 A G 1: 179,580,619 (GRCm39) L1861P possibly damaging Het
Apc2 C A 10: 80,146,877 (GRCm39) R615S probably damaging Het
Arhgap45 A C 10: 79,861,364 (GRCm39) D509A probably damaging Het
Atp6v1c2 T C 12: 17,351,208 (GRCm39) T108A probably benign Het
Blm T A 7: 80,143,976 (GRCm39) D821V probably damaging Het
C3 T A 17: 57,528,057 (GRCm39) I721L probably benign Het
Ccdc13 A T 9: 121,649,826 (GRCm39) V207E probably damaging Het
Ccndbp1 C T 2: 120,845,208 (GRCm39) probably benign Het
Cd180 A C 13: 102,842,268 (GRCm39) Q438P probably benign Het
Cd248 C T 19: 5,118,473 (GRCm39) T107M probably damaging Het
Cdan1 G A 2: 120,558,864 (GRCm39) R445C probably damaging Het
Cic C A 7: 24,973,013 (GRCm39) H915N possibly damaging Het
Cox8c T C 12: 102,865,742 (GRCm39) S40P possibly damaging Het
Dhx30 A T 9: 109,914,356 (GRCm39) F974I probably damaging Het
Dlec1 A T 9: 118,972,221 (GRCm39) T1414S probably benign Het
Dlg2 C A 7: 92,087,170 (GRCm39) probably null Het
Dynlt5 T A 4: 102,861,426 (GRCm39) I136K probably damaging Het
Dzip1l T A 9: 99,529,258 (GRCm39) M329K probably benign Het
Dzip3 A T 16: 48,771,924 (GRCm39) L582I probably damaging Het
Emilin2 T C 17: 71,559,773 (GRCm39) Y1068C probably damaging Het
Fam221b T A 4: 43,659,622 (GRCm39) probably null Het
Fbxw22 A G 9: 109,207,939 (GRCm39) I444T probably damaging Het
Flnc T A 6: 29,440,428 (GRCm39) N245K probably damaging Het
Fnip1 T A 11: 54,390,245 (GRCm39) I380N probably damaging Het
Gbf1 C T 19: 46,247,606 (GRCm39) R181* probably null Het
Igkv6-17 T A 6: 70,348,486 (GRCm39) F12I probably benign Het
Itln1 C A 1: 171,358,645 (GRCm39) G174V probably damaging Het
Lrrc52 A G 1: 167,293,660 (GRCm39) probably null Het
LTO1 T C 7: 144,482,715 (GRCm39) probably null Het
Matn2 A G 15: 34,403,071 (GRCm39) Y432C probably damaging Het
Metap1d A G 2: 71,355,305 (GRCm39) *336W probably null Het
Mgam2-ps T A 6: 40,779,489 (GRCm39) noncoding transcript Het
Mrps9 T A 1: 42,901,675 (GRCm39) V61D possibly damaging Het
Myh7b T C 2: 155,456,097 (GRCm39) Y161H probably damaging Het
Myh9 T A 15: 77,653,053 (GRCm39) D1428V probably damaging Het
N4bp3 A T 11: 51,535,306 (GRCm39) probably null Het
Nat9 T A 11: 115,075,416 (GRCm39) Q75L probably benign Het
Nop2 T C 6: 125,121,519 (GRCm39) V767A probably benign Het
Ntrk2 A G 13: 59,274,307 (GRCm39) K728E probably damaging Het
Or51e1 T G 7: 102,358,764 (GRCm39) C99W probably damaging Het
Or5p72 G A 7: 108,022,196 (GRCm39) M139I probably benign Het
Or7g21 T A 9: 19,032,306 (GRCm39) H15Q probably null Het
Pcdhgb2 A G 18: 37,825,375 (GRCm39) T789A probably benign Het
Pcyt2 T C 11: 120,502,000 (GRCm39) D321G probably benign Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rbbp8 A T 18: 11,854,839 (GRCm39) K355* probably null Het
Rhag T C 17: 41,147,358 (GRCm39) Y407H probably damaging Het
Robo4 G A 9: 37,314,495 (GRCm39) V161M probably damaging Het
Rpl27-ps3 C A 18: 6,332,922 (GRCm39) N97K probably benign Het
Slc45a4 A G 15: 73,453,924 (GRCm39) I691T possibly damaging Het
Slc9a9 A T 9: 94,818,502 (GRCm39) probably benign Het
Stard13 A G 5: 150,984,280 (GRCm39) F619L probably benign Het
Stt3b A T 9: 115,083,862 (GRCm39) V438E probably damaging Het
Tacr3 C T 3: 134,535,182 (GRCm39) T50I probably benign Het
Tacr3 G T 3: 134,635,690 (GRCm39) C298F probably damaging Het
Taok3 C T 5: 117,366,131 (GRCm39) T394M probably benign Het
Tgfb1i1 A G 7: 127,848,348 (GRCm39) D128G probably damaging Het
Tgfbr3l G T 8: 4,300,574 (GRCm39) V251L probably benign Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Top3a A G 11: 60,633,238 (GRCm39) S953P probably benign Het
Trappc10 T C 10: 78,033,697 (GRCm39) K957E probably damaging Het
Ttn T A 2: 76,565,668 (GRCm39) E28228V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vdr A T 15: 97,756,801 (GRCm39) probably null Het
Zfp42 A T 8: 43,749,168 (GRCm39) L111Q probably damaging 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
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
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'- GAAGATGATTTAGTGATCTTTGCCCC -3'
(R):5'- TTGTGGCTCCCAGTGCTAAC -3'

Sequencing Primer
(F):5'- CCCTTGTTTGATAGTCATCATGATG -3'
(R):5'- TGGCTCCCAGTGCTAACTCAAC -3'
Posted On 2015-10-21