Incidental Mutation 'R5765:Tiparp'
ID 446211
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 043366-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R5765 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 65435868-65462939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65438771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 29 (I29N)
Ref Sequence ENSEMBL: ENSMUSP00000048051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047906] [ENSMUST00000130705]
AlphaFold Q8C1B2
Predicted Effect possibly damaging
Transcript: ENSMUST00000047906
AA Change: I29N

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: I29N

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 benign
Transcript: ENSMUST00000130705
SMART Domains Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A T 11: 65,044,066 (GRCm39) probably benign Het
Abcf2 T C 5: 24,778,421 (GRCm39) R246G probably damaging Het
Adamts19 G T 18: 59,185,654 (GRCm39) C1176F probably damaging Het
Adh7 G A 3: 137,932,090 (GRCm39) V235I probably benign Het
Aoc1l1 C T 6: 48,955,471 (GRCm39) P694S probably damaging Het
Caprin2 G C 6: 148,744,666 (GRCm39) P701A probably damaging Het
Casp7 T C 19: 56,422,315 (GRCm39) V110A possibly damaging Het
Cd1d2 A T 3: 86,894,549 (GRCm39) M106L probably benign Het
Cntnap2 C T 6: 46,506,749 (GRCm39) probably benign Het
Cpm A G 10: 117,507,638 (GRCm39) I252V probably benign Het
Dnaaf2 A C 12: 69,239,627 (GRCm39) I631M probably damaging Het
Fads2b T G 2: 85,314,538 (GRCm39) probably null Het
Fam117b A G 1: 60,009,631 (GRCm39) probably null Het
Fbxw22 T C 9: 109,214,064 (GRCm39) M251V probably benign Het
Fignl1 T C 11: 11,752,011 (GRCm39) probably null Het
Foxp1 G A 6: 98,992,423 (GRCm39) L156F probably damaging Het
Gdap1 A T 1: 17,231,650 (GRCm39) M332L probably benign Het
H2-M3 T C 17: 37,583,334 (GRCm39) F265S probably damaging Het
Il1rl1 C T 1: 40,501,103 (GRCm39) A493V probably benign Het
Iqce A G 5: 140,651,895 (GRCm39) S359P probably damaging Het
Kif2b C T 11: 91,468,068 (GRCm39) E72K probably benign Het
Luzp1 T C 4: 136,268,340 (GRCm39) S188P probably damaging Het
Med13l T A 5: 118,866,707 (GRCm39) L587Q probably damaging Het
Mocs2 A G 13: 114,962,692 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,459 (GRCm39) Y200C probably damaging Het
Nalcn C T 14: 123,702,138 (GRCm39) V458I possibly damaging Het
Nbea C T 3: 55,912,719 (GRCm39) V1023I probably benign Het
Nbeal1 T A 1: 60,331,006 (GRCm39) V2205D probably damaging Het
Nfe2l3 A G 6: 51,434,226 (GRCm39) D262G probably damaging Het
Nsfl1c T C 2: 151,346,085 (GRCm39) Y169H probably damaging Het
Pcdhac1 A T 18: 37,223,372 (GRCm39) R62* probably null Het
Pcdhga1 A G 18: 37,796,714 (GRCm39) T573A probably benign Het
Plin4 C T 17: 56,409,470 (GRCm39) C1276Y possibly damaging Het
Ppp6r1 C A 7: 4,645,207 (GRCm39) R220L possibly damaging Het
Ptprz1 T G 6: 23,000,235 (GRCm39) V775G probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc17a6 A G 7: 51,275,249 (GRCm39) T103A possibly damaging Het
Spock1 A T 13: 57,577,217 (GRCm39) L404Q probably benign Het
Stradb C A 1: 59,031,903 (GRCm39) H272N probably benign Het
Strn3 A G 12: 51,680,410 (GRCm39) S397P probably benign Het
Synpo2l C T 14: 20,716,198 (GRCm39) R126H possibly damaging Het
Tas2r104 A G 6: 131,662,236 (GRCm39) Y158H probably benign Het
Tnpo1 G A 13: 98,996,349 (GRCm39) T484M probably benign Het
Tsc22d4 A G 5: 137,756,805 (GRCm39) I78V probably benign Het
Ugt2b1 T C 5: 87,067,265 (GRCm39) Y386C probably benign Het
Ugt2b38 A G 5: 87,571,954 (GRCm39) V26A probably damaging Het
Vmn2r116 G A 17: 23,620,378 (GRCm39) C704Y probably damaging Het
Vmn2r97 T A 17: 19,167,442 (GRCm39) Y565* probably null Het
Zfand2b T A 1: 75,147,171 (GRCm39) probably null Het
Zzef1 C T 11: 72,712,763 (GRCm39) Q228* probably null 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
R1766:Tiparp UTSW 3 65,439,470 (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
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'- ATGAATGAATGGGTTCAGTTGTCAG -3'
(R):5'- CACGATGGGTTGATTTCCAGG -3'

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