Incidental Mutation 'R5772:Cyp2d34'
ID 445470
Institutional Source Beutler Lab
Gene Symbol Cyp2d34
Ensembl Gene ENSMUSG00000094559
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 34
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5772 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82500166-82505147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82501341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 329 (D329G)
Ref Sequence ENSEMBL: ENSMUSP00000105141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109515] [ENSMUST00000229833]
AlphaFold L7N463
Predicted Effect probably null
Transcript: ENSMUST00000109515
AA Change: D329G

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: D329G

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
Meta Mutation Damage Score 0.6805 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932416K20Rik G A 8: 105,524,271 (GRCm39) noncoding transcript Het
Abcg8 A T 17: 84,994,127 (GRCm39) E48V probably damaging Het
Afap1l2 T C 19: 56,911,406 (GRCm39) T289A probably benign Het
Atf6 T A 1: 170,574,758 (GRCm39) D560V probably damaging Het
Bcl2l14 A T 6: 134,404,362 (GRCm39) K183N probably damaging Het
Carmil3 T C 14: 55,730,696 (GRCm39) L52P probably damaging Het
Cct3 T A 3: 88,208,274 (GRCm39) N61K probably damaging Het
Col18a1 A G 10: 77,002,177 (GRCm39) V10A unknown Het
Col26a1 G A 5: 136,876,420 (GRCm39) Q67* probably null Het
Dchs1 T A 7: 105,422,247 (GRCm39) I58F probably damaging Het
Ddx60 T C 8: 62,401,931 (GRCm39) L269P probably damaging Het
Dis3l2 G A 1: 86,806,154 (GRCm39) G325D probably damaging Het
Dync1h1 A T 12: 110,612,707 (GRCm39) K2861* probably null Het
Ednra A G 8: 78,401,696 (GRCm39) I198T possibly damaging Het
Ep300 T C 15: 81,524,115 (GRCm39) probably benign Het
Fam120a G A 13: 49,034,409 (GRCm39) P1068S probably benign Het
Fsip2 A T 2: 82,815,084 (GRCm39) M3606L probably benign Het
Garre1 A T 7: 33,953,413 (GRCm39) W238R probably damaging Het
Gm7713 T C 15: 59,866,492 (GRCm39) noncoding transcript Het
Gprin3 A T 6: 59,331,398 (GRCm39) V303D possibly damaging Het
Hmcn1 A T 1: 150,570,629 (GRCm39) V2178D possibly damaging Het
Hoxa11 A G 6: 52,222,380 (GRCm39) V107A possibly damaging Het
Iqub C A 6: 24,454,250 (GRCm39) M544I possibly damaging Het
Itgb4 A T 11: 115,879,258 (GRCm39) probably benign Het
Itpkb A G 1: 180,161,818 (GRCm39) probably benign Het
Kalrn A T 16: 33,796,190 (GRCm39) V1195E probably damaging Het
Kif12 C A 4: 63,084,178 (GRCm39) R608M probably damaging Het
Lcorl A T 5: 45,952,709 (GRCm39) probably null Het
Lrrc24 T C 15: 76,606,910 (GRCm39) E162G probably damaging Het
Med6 A G 12: 81,626,418 (GRCm39) S119P probably damaging Het
Mmab A C 5: 114,574,775 (GRCm39) L166R probably damaging Het
Myef2l A G 3: 10,153,566 (GRCm39) R112G probably damaging Het
Nom1 A G 5: 29,651,873 (GRCm39) K737R possibly damaging Het
Obscn T C 11: 58,946,970 (GRCm39) S4352G probably damaging Het
Or10ag60 A T 2: 87,438,517 (GRCm39) T262S probably benign Het
Or2w25 T A 11: 59,504,712 (GRCm39) D307E probably benign Het
Or4k35 A T 2: 111,100,057 (GRCm39) Y218* probably null Het
Or6d12 A C 6: 116,492,912 (GRCm39) D58A possibly damaging Het
Pdzrn3 G A 6: 101,149,275 (GRCm39) S351L probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Prkdc T A 16: 15,597,252 (GRCm39) I2804K possibly damaging Het
Psg28 A G 7: 18,164,640 (GRCm39) L24P probably damaging Het
Resp18 A G 1: 75,250,644 (GRCm39) V145A possibly damaging Het
Rgl3 T C 9: 21,892,908 (GRCm39) M259V probably benign Het
Rhot2 A T 17: 26,058,781 (GRCm39) S540T probably benign Het
Ring1 T C 17: 34,241,282 (GRCm39) Y278C possibly damaging Het
Rpn2 A G 2: 157,137,265 (GRCm39) Y216C probably damaging Het
Scgb2b18 G A 7: 32,873,255 (GRCm39) L5F unknown Het
Slamf7 T C 1: 171,466,838 (GRCm39) probably null Het
Slc22a12 T C 19: 6,590,479 (GRCm39) N237S possibly damaging Het
Spen A T 4: 141,205,495 (GRCm39) V1044D unknown Het
Sqor A T 2: 122,651,261 (GRCm39) M175L probably benign Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tars3 T G 7: 65,333,873 (GRCm39) F632V probably damaging Het
Tln1 A G 4: 43,545,191 (GRCm39) V1008A probably benign Het
Tmem145 A G 7: 25,015,039 (GRCm39) H554R probably benign Het
Trank1 A T 9: 111,195,744 (GRCm39) D1256V possibly damaging Het
Trbv19 A G 6: 41,155,794 (GRCm39) Y55C possibly damaging Het
Ttc23l C T 15: 10,551,555 (GRCm39) C57Y probably benign Het
Uap1 A T 1: 169,988,949 (GRCm39) C158S probably benign Het
Zfp353-ps T A 8: 42,535,647 (GRCm39) noncoding transcript Het
Zfp629 T A 7: 127,210,307 (GRCm39) I501F probably damaging Het
Zfp820 T C 17: 22,037,702 (GRCm39) Y542C 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
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
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'- GCATCCCTTTAGTGAAACAGTC -3'
(R):5'- AAGGAACTCAAGACCTGGGC -3'

Sequencing Primer
(F):5'- CCCTTTAGTGAAACAGTCATAGGG -3'
(R):5'- TGGGACACCATGTGGGACTC -3'
Posted On 2016-11-21