Incidental Mutation 'R1766:Tiparp'
ID 194341
Institutional Source Beutler Lab
Gene Symbol Tiparp
Ensembl Gene ENSMUSG00000034640
Gene Name TCDD-inducible poly(ADP-ribose) polymerase
Synonyms PARP7, DDF1, PARP-7
MMRRC Submission 039798-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R1766 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 65435868-65462939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65439470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 80 (H80L)
Ref Sequence ENSEMBL: ENSMUSP00000119951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047906] [ENSMUST00000130705]
AlphaFold Q8C1B2
Predicted Effect probably damaging
Transcript: ENSMUST00000047906
AA Change: H262L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: H262L

DomainStartEndE-ValueType
Blast:ZnF_C3H1 238 264 2e-8 BLAST
Pfam:PARP 463 650 2e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099076
SMART Domains Protein: ENSMUSP00000096675
Gene: ENSMUSG00000074580

DomainStartEndE-ValueType
low complexity region 16 42 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130705
AA Change: H80L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640
AA Change: H80L

DomainStartEndE-ValueType
Blast:ZnF_C3H1 56 82 3e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193051
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality, skeletal and craniofacial defects, kidney defects and embryonic hemorrhaging. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T C 10: 42,330,491 (GRCm39) T59A probably benign Het
Ankrd17 T A 5: 90,412,656 (GRCm39) M1223L possibly damaging Het
Ankrd24 G A 10: 81,474,472 (GRCm39) S68N probably benign Het
Arhgap31 A G 16: 38,445,952 (GRCm39) I131T probably damaging Het
Arhgef10 A T 8: 15,029,836 (GRCm39) I874F probably damaging Het
Arl5b T C 2: 15,074,648 (GRCm39) V43A probably benign Het
BC051665 G A 13: 60,932,854 (GRCm39) H36Y probably benign Het
Cdh9 A G 15: 16,778,392 (GRCm39) D69G probably damaging Het
Chd6 G A 2: 160,808,559 (GRCm39) L1552F probably damaging Het
Chrd A G 16: 20,556,191 (GRCm39) H584R probably damaging Het
Dnhd1 G A 7: 105,343,179 (GRCm39) V1508I possibly damaging Het
Dpy19l4 C T 4: 11,303,360 (GRCm39) G187D probably damaging Het
Dync2h1 T C 9: 7,015,526 (GRCm39) probably null Het
Ehbp1l1 A G 19: 5,766,434 (GRCm39) V1303A probably damaging Het
Eif4e1b G A 13: 54,934,704 (GRCm39) E182K probably damaging Het
Fam170b A T 14: 32,557,843 (GRCm39) Q226L possibly damaging Het
Fam193a C T 5: 34,619,475 (GRCm39) P760L probably damaging Het
Gabra5 A T 7: 57,157,796 (GRCm39) L6H probably benign Het
Gabrq G A X: 71,876,989 (GRCm39) R161H probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7334 T A 17: 51,006,006 (GRCm39) D97E probably damaging Het
Gpsm1 G A 2: 26,215,395 (GRCm39) A286T probably damaging Het
Gsta4 C A 9: 78,111,611 (GRCm39) Y79* probably null Het
Hcn1 T A 13: 117,793,270 (GRCm39) V174D probably benign Het
Hic1 G T 11: 75,056,620 (GRCm39) C756* probably null Het
Hivep3 C T 4: 119,953,868 (GRCm39) T728I probably benign Het
Ice1 T C 13: 70,752,561 (GRCm39) E1175G possibly damaging Het
Igsf3 T A 3: 101,338,598 (GRCm39) L304Q probably damaging Het
Kpna6 T C 4: 129,551,235 (GRCm39) D90G probably benign Het
Krt73 C T 15: 101,702,363 (GRCm39) G500D probably damaging Het
Lama3 A G 18: 12,535,119 (GRCm39) K156E probably damaging Het
Mdm2 T C 10: 117,531,927 (GRCm39) K94E probably damaging Het
Mitf T C 6: 97,918,060 (GRCm39) S26P probably damaging Het
Myh4 C A 11: 67,147,121 (GRCm39) Q1589K possibly damaging Het
Nlrp4c T A 7: 6,076,113 (GRCm39) V671E probably benign Het
Nop9 C T 14: 55,989,591 (GRCm39) A407V possibly damaging Het
Nrap T A 19: 56,323,474 (GRCm39) H1366L probably damaging Het
Ntrk1 A T 3: 87,685,825 (GRCm39) C766S probably damaging Het
Oog3 C T 4: 143,885,692 (GRCm39) G302D possibly damaging Het
Or4q3 T C 14: 50,583,677 (GRCm39) Y43C probably damaging Het
Or52z15 A G 7: 103,332,068 (GRCm39) N38D possibly damaging Het
Or6c38 T C 10: 128,929,616 (GRCm39) I76V probably benign Het
Or7g27 A G 9: 19,250,154 (GRCm39) T133A probably benign Het
Pdzph1 C T 17: 59,280,747 (GRCm39) V512I probably benign Het
Phf2 A C 13: 48,973,033 (GRCm39) S408A unknown Het
Pigk T G 3: 152,445,793 (GRCm39) L135V probably damaging Het
Ppp2ca C A 11: 52,012,773 (GRCm39) T301N probably benign Het
Ppp4r3a A G 12: 101,024,741 (GRCm39) S253P probably damaging Het
Ptgfrn A T 3: 100,957,438 (GRCm39) I712N probably benign Het
Rapgef2 A T 3: 79,000,010 (GRCm39) D579E probably damaging Het
Rims2 T A 15: 39,325,976 (GRCm39) D769E probably damaging Het
Rptor T A 11: 119,615,887 (GRCm39) C134S probably damaging Het
S100a1 A G 3: 90,418,599 (GRCm39) F72L probably damaging Het
Scube1 T A 15: 83,606,146 (GRCm39) D42V probably damaging Het
Sh3glb1 T C 3: 144,418,446 (GRCm39) D39G probably damaging Het
Sh3pxd2a T C 19: 47,261,689 (GRCm39) T397A probably benign Het
Siglece G A 7: 43,300,956 (GRCm39) T453M probably damaging Het
Slc26a1 G A 5: 108,819,658 (GRCm39) R514W probably damaging Het
Slc4a8 T C 15: 100,685,093 (GRCm39) V156A probably benign Het
Smchd1 A T 17: 71,698,374 (GRCm39) V1134E probably damaging Het
Sorbs2 A G 8: 46,223,613 (GRCm39) Y222C probably damaging Het
Sorcs3 G T 19: 48,592,314 (GRCm39) W326C possibly damaging Het
Taf2 A G 15: 54,934,793 (GRCm39) V45A probably benign Het
Tex16 T C X: 111,150,782 (GRCm39) Y22H probably benign Het
Tmem71 T A 15: 66,413,548 (GRCm39) T175S probably benign Het
Tmem87b T A 2: 128,681,090 (GRCm39) V338D probably damaging Het
Trdn A G 10: 33,240,004 (GRCm39) K445R probably damaging Het
Trim14 A G 4: 46,522,039 (GRCm39) F213L probably benign Het
Tubgcp5 T A 7: 55,464,768 (GRCm39) S550T probably benign Het
Tufm A G 7: 126,089,644 (GRCm39) D446G probably benign Het
Vipr1 A T 9: 121,490,485 (GRCm39) Y177F possibly damaging Het
Vmn2r116 A C 17: 23,620,740 (GRCm39) I825L probably damaging Het
Vmn2r12 G T 5: 109,239,910 (GRCm39) Q218K probably damaging Het
Vwa7 G T 17: 35,242,919 (GRCm39) probably null Het
Ywhae T C 11: 75,646,491 (GRCm39) V119A probably damaging Het
Zfand5 A G 19: 21,257,888 (GRCm39) R199G probably damaging Het
Zfp810 T C 9: 22,189,828 (GRCm39) Y360C possibly damaging Het
Zrsr2-ps1 A G 11: 22,923,637 (GRCm39) D137G probably benign Het
Other mutations in Tiparp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Tiparp APN 3 65,439,530 (GRCm39) missense probably damaging 1.00
IGL01448:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01452:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01454:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01456:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01463:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01467:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01468:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01470:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01476:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01481:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01590:Tiparp APN 3 65,439,397 (GRCm39) missense probably benign 0.14
IGL01684:Tiparp APN 3 65,460,754 (GRCm39) missense probably damaging 0.99
IGL02322:Tiparp APN 3 65,439,441 (GRCm39) nonsense probably null
IGL02572:Tiparp APN 3 65,439,310 (GRCm39) missense probably benign 0.01
Albania UTSW 3 65,460,948 (GRCm39) missense probably damaging 1.00
Moldova UTSW 3 65,460,603 (GRCm39) missense probably damaging 1.00
BB003:Tiparp UTSW 3 65,460,946 (GRCm39) missense possibly damaging 0.61
BB013:Tiparp UTSW 3 65,460,946 (GRCm39) missense possibly damaging 0.61
R0401:Tiparp UTSW 3 65,438,857 (GRCm39) missense probably benign 0.06
R0674:Tiparp UTSW 3 65,460,586 (GRCm39) missense probably benign 0.03
R1316:Tiparp UTSW 3 65,460,772 (GRCm39) missense probably damaging 1.00
R2140:Tiparp UTSW 3 65,436,673 (GRCm39) intron probably benign
R2568:Tiparp UTSW 3 65,460,551 (GRCm39) nonsense probably null
R4533:Tiparp UTSW 3 65,453,768 (GRCm39) missense probably benign 0.05
R4751:Tiparp UTSW 3 65,460,225 (GRCm39) missense probably damaging 1.00
R4812:Tiparp UTSW 3 65,460,190 (GRCm39) missense possibly damaging 0.94
R5268:Tiparp UTSW 3 65,454,986 (GRCm39) missense possibly damaging 0.72
R5622:Tiparp UTSW 3 65,454,946 (GRCm39) missense probably benign 0.00
R5693:Tiparp UTSW 3 65,460,913 (GRCm39) missense possibly damaging 0.89
R5765:Tiparp UTSW 3 65,438,771 (GRCm39) missense possibly damaging 0.69
R6061:Tiparp UTSW 3 65,460,664 (GRCm39) missense probably damaging 0.98
R6875:Tiparp UTSW 3 65,439,063 (GRCm39) missense probably benign 0.01
R7123:Tiparp UTSW 3 65,460,948 (GRCm39) missense probably damaging 1.00
R7926:Tiparp UTSW 3 65,460,946 (GRCm39) missense possibly damaging 0.61
R8023:Tiparp UTSW 3 65,439,224 (GRCm39) missense probably benign 0.01
R8234:Tiparp UTSW 3 65,439,002 (GRCm39) missense probably benign
R8416:Tiparp UTSW 3 65,438,767 (GRCm39) missense probably benign 0.00
R8487:Tiparp UTSW 3 65,453,655 (GRCm39) missense probably benign 0.06
R8547:Tiparp UTSW 3 65,453,798 (GRCm39) critical splice donor site probably null
R8690:Tiparp UTSW 3 65,460,963 (GRCm39) missense probably benign 0.17
R8750:Tiparp UTSW 3 65,460,125 (GRCm39) missense probably damaging 0.99
R8900:Tiparp UTSW 3 65,460,603 (GRCm39) missense probably damaging 1.00
R8940:Tiparp UTSW 3 65,439,299 (GRCm39) missense probably benign 0.00
R9323:Tiparp UTSW 3 65,439,272 (GRCm39) missense probably benign 0.01
R9505:Tiparp UTSW 3 65,439,577 (GRCm39) nonsense probably null
R9558:Tiparp UTSW 3 65,438,852 (GRCm39) missense possibly damaging 0.96
R9597:Tiparp UTSW 3 65,438,701 (GRCm39) missense probably benign
R9799:Tiparp UTSW 3 65,454,973 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCTCTTCCAAGACAAAAGTGAGGAAGC -3'
(R):5'- GCATGTGTCTGTGTACGAATGAAGAAC -3'

Sequencing Primer
(F):5'- AAGCTTCCCTTGAGCTTGTG -3'
(R):5'- TCTTTGGTTAGGTAAAGAGACCAC -3'
Posted On 2014-05-23