Incidental Mutation 'IGL03365:Parp12'
ID 420053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp12
Ensembl Gene ENSMUSG00000038507
Gene Name poly (ADP-ribose) polymerase family, member 12
Synonyms Zc3hdc1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL03365
Quality Score
Status
Chromosome 6
Chromosomal Location 39063346-39095283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 39079581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 310 (R310W)
Ref Sequence ENSEMBL: ENSMUSP00000039704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038398]
AlphaFold Q8BZ20
Predicted Effect probably damaging
Transcript: ENSMUST00000038398
AA Change: R310W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039704
Gene: ENSMUSG00000038507
AA Change: R310W

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 17 32 N/A INTRINSIC
low complexity region 51 83 N/A INTRINSIC
ZnF_C3H1 99 127 2.79e1 SMART
ZnF_C3H1 186 210 1.36e-2 SMART
ZnF_C3H1 280 306 2.03e1 SMART
Pfam:WWE 385 468 1.3e-16 PFAM
Pfam:PARP 506 689 5.2e-48 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 25,202,809 (GRCm39) probably benign Het
Adam6a T A 12: 113,507,765 (GRCm39) I46N possibly damaging Het
Adipor1 A G 1: 134,359,380 (GRCm39) D371G possibly damaging Het
Akr1c21 C T 13: 4,633,851 (GRCm39) P307S probably benign Het
Aoc1l3 A G 6: 48,965,531 (GRCm39) D513G probably damaging Het
Asxl1 T A 2: 153,243,674 (GRCm39) I1408N probably damaging Het
Avil T C 10: 126,846,852 (GRCm39) V472A probably damaging Het
Bpifa6 C A 2: 153,831,204 (GRCm39) Q257K possibly damaging Het
Cacna2d4 G T 6: 119,248,225 (GRCm39) V380L probably benign Het
Clip1 A C 5: 123,721,649 (GRCm39) S1111A probably damaging Het
Dennd4c A G 4: 86,725,663 (GRCm39) probably null Het
Dock8 C T 19: 25,077,048 (GRCm39) P506L possibly damaging Het
Ecsit A C 9: 21,987,822 (GRCm39) H72Q probably damaging Het
Eif1b T A 9: 120,323,186 (GRCm39) D15E probably benign Het
Enpp1 A G 10: 24,544,923 (GRCm39) Y319H probably damaging Het
Fat3 T C 9: 15,907,765 (GRCm39) N2746D probably damaging Het
Fgf20 G T 8: 40,732,932 (GRCm39) L115I possibly damaging Het
Hip1r C T 5: 124,138,230 (GRCm39) R775W probably damaging Het
Hycc1 A T 5: 24,188,158 (GRCm39) Y245N probably benign Het
Lrp12 A T 15: 39,735,917 (GRCm39) S672T probably benign Het
Morf4l2 A G X: 135,634,464 (GRCm39) Y255H probably benign Het
Mri1 A G 8: 84,978,262 (GRCm39) V343A possibly damaging Het
Mybphl T A 3: 108,272,314 (GRCm39) M1K probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Ofd1 C A X: 165,175,512 (GRCm39) V951F probably damaging Het
Or4k51 G T 2: 111,584,772 (GRCm39) M59I possibly damaging Het
Or51r1 G T 7: 102,227,836 (GRCm39) V45F probably benign Het
Or6c208 T A 10: 129,224,108 (GRCm39) V202D possibly damaging Het
Pcdh11x T A X: 119,425,935 (GRCm39) D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 (GRCm39) probably benign Het
Ptprz1 T A 6: 23,030,581 (GRCm39) probably benign Het
Qser1 T A 2: 104,617,344 (GRCm39) N1156I probably damaging Het
Rgs3 T A 4: 62,607,912 (GRCm39) D59E probably benign Het
Rims2 T C 15: 39,339,937 (GRCm39) F917S probably damaging Het
Sap30bp G A 11: 115,855,078 (GRCm39) V263M possibly damaging Het
Scart2 T A 7: 139,876,682 (GRCm39) V691E probably damaging Het
Scfd2 G T 5: 74,691,596 (GRCm39) H229N possibly damaging Het
Sspo T C 6: 48,436,349 (GRCm39) V1233A possibly damaging Het
Stam T A 2: 14,151,201 (GRCm39) Y519* probably null Het
Synj2 A G 17: 6,069,679 (GRCm39) T602A probably damaging Het
Tas2r126 C T 6: 42,412,391 (GRCm39) A308V probably benign Het
Tm4sf20 T C 1: 82,745,948 (GRCm39) probably benign Het
Ttc23 G A 7: 67,312,085 (GRCm39) probably benign Het
Vmn1r90 T C 7: 14,295,229 (GRCm39) I290V probably damaging Het
Xirp1 A C 9: 119,847,605 (GRCm39) L426W probably damaging Het
Zgrf1 T G 3: 127,392,423 (GRCm39) F430L possibly damaging Het
Other mutations in Parp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Parp12 APN 6 39,073,524 (GRCm39) missense probably benign 0.01
IGL02937:Parp12 APN 6 39,079,515 (GRCm39) missense probably damaging 1.00
IGL03032:Parp12 APN 6 39,064,520 (GRCm39) splice site probably null
IGL03149:Parp12 APN 6 39,091,165 (GRCm39) missense probably benign 0.07
I1329:Parp12 UTSW 6 39,064,505 (GRCm39) missense probably damaging 1.00
R1016:Parp12 UTSW 6 39,088,660 (GRCm39) missense probably damaging 1.00
R1446:Parp12 UTSW 6 39,079,495 (GRCm39) missense probably benign 0.00
R1640:Parp12 UTSW 6 39,088,612 (GRCm39) missense probably damaging 1.00
R1640:Parp12 UTSW 6 39,073,574 (GRCm39) missense probably benign 0.38
R4794:Parp12 UTSW 6 39,094,744 (GRCm39) missense probably benign 0.02
R5324:Parp12 UTSW 6 39,079,546 (GRCm39) missense probably damaging 0.99
R5411:Parp12 UTSW 6 39,067,142 (GRCm39) missense probably damaging 1.00
R6862:Parp12 UTSW 6 39,088,670 (GRCm39) missense probably benign 0.02
R6864:Parp12 UTSW 6 39,088,670 (GRCm39) missense probably benign 0.02
R6865:Parp12 UTSW 6 39,088,670 (GRCm39) missense probably benign 0.02
R7124:Parp12 UTSW 6 39,088,670 (GRCm39) missense probably benign 0.02
R7126:Parp12 UTSW 6 39,088,670 (GRCm39) missense probably benign 0.02
R7935:Parp12 UTSW 6 39,079,612 (GRCm39) missense possibly damaging 0.70
R8050:Parp12 UTSW 6 39,066,038 (GRCm39) missense probably damaging 1.00
R8403:Parp12 UTSW 6 39,068,279 (GRCm39) missense probably benign 0.06
R8686:Parp12 UTSW 6 39,094,856 (GRCm39) missense probably benign 0.00
R8792:Parp12 UTSW 6 39,065,984 (GRCm39) missense probably benign 0.00
R8813:Parp12 UTSW 6 39,073,508 (GRCm39) missense probably damaging 1.00
R9797:Parp12 UTSW 6 39,067,185 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02