Incidental Mutation 'R3873:Itpa'
ID 276653
Institutional Source Beutler Lab
Gene Symbol Itpa
Ensembl Gene ENSMUSG00000074797
Gene Name inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Synonyms Itp, 2010016I08Rik
MMRRC Submission 040791-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3873 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130509530-130523534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 130522930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 176 (S176A)
Ref Sequence ENSEMBL: ENSMUSP00000099482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099362] [ENSMUST00000103193]
AlphaFold Q9D892
Predicted Effect probably benign
Transcript: ENSMUST00000099362
SMART Domains Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796

DomainStartEndE-ValueType
SCOP:d1a3aa_ 199 276 5e-5 SMART
Pfam:HCO3_cotransp 308 806 9.7e-153 PFAM
transmembrane domain 827 844 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103193
AA Change: S176A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099482
Gene: ENSMUSG00000074797
AA Change: S176A

DomainStartEndE-ValueType
Pfam:Ham1p_like 10 188 4.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156382
Meta Mutation Damage Score 0.9056 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality and complete postnatal lethality with postnatal growth retardation, abnormal heart morphology and function, ataxia, and immature hair follicles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Acaca A G 11: 84,203,547 (GRCm39) probably benign Het
Adam5 T C 8: 25,305,125 (GRCm39) T110A probably benign Het
Agtpbp1 T C 13: 59,608,410 (GRCm39) M175V possibly damaging Het
Akt1 T C 12: 112,622,967 (GRCm39) N367S probably benign Het
Ankrd61 T A 5: 143,828,646 (GRCm39) T67S probably damaging Het
Arl8a T C 1: 135,080,610 (GRCm39) probably null Het
Arvcf G A 16: 18,221,783 (GRCm39) R736Q probably damaging Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Cep295 A T 9: 15,244,661 (GRCm39) V1265E probably damaging Het
Cfap299 A T 5: 98,885,482 (GRCm39) I130F probably damaging Het
Cyp2c29 A G 19: 39,317,588 (GRCm39) D397G probably damaging Het
Dlgap4 T C 2: 156,591,267 (GRCm39) S818P probably benign Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dst A G 1: 34,328,701 (GRCm39) T4590A probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Fscb G T 12: 64,519,906 (GRCm39) P520Q unknown Het
Gli1 T A 10: 127,167,225 (GRCm39) N676I probably damaging Het
Hspg2 T C 4: 137,266,660 (GRCm39) I1916T probably damaging Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Il7 A T 3: 7,669,224 (GRCm39) V4D probably damaging Het
Itgae T A 11: 73,004,442 (GRCm39) I243N probably damaging Het
Klhl13 T C X: 23,151,415 (GRCm39) D21G probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Ly6g6e T C 17: 35,296,159 (GRCm39) V10A probably benign Het
Morc3 G A 16: 93,659,324 (GRCm39) V411I probably damaging Het
Mrpl32 G T 13: 14,787,630 (GRCm39) probably benign Het
Ncald G A 15: 37,397,497 (GRCm39) A61V probably damaging Het
Nek2 T C 1: 191,559,320 (GRCm39) V275A probably benign Het
Or12d12 T A 17: 37,610,870 (GRCm39) T148S probably benign Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Or5m10b T A 2: 85,699,306 (GRCm39) Y123* probably null Het
Pgam5 T C 5: 110,413,465 (GRCm39) Y210C probably damaging Het
Phf5a T C 15: 81,754,628 (GRCm39) N50D probably benign Het
Prl7d1 A G 13: 27,900,651 (GRCm39) M1T probably null Het
Sacs A G 14: 61,429,735 (GRCm39) K595R possibly damaging Het
Scyl3 A G 1: 163,778,206 (GRCm39) N448S probably benign Het
Serpinb9g A T 13: 33,670,518 (GRCm39) D2V probably benign Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Smg1 T C 7: 117,753,885 (GRCm39) probably benign Het
Taar1 T C 10: 23,796,482 (GRCm39) L60P probably damaging Het
Tmem51 T C 4: 141,759,059 (GRCm39) T230A probably damaging Het
Ubr4 T C 4: 139,151,301 (GRCm39) V623A probably damaging Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vipr2 T C 12: 116,099,724 (GRCm39) probably benign Het
Vmn2r16 T C 5: 109,488,177 (GRCm39) M350T probably benign Het
Vmn2r22 T C 6: 123,614,339 (GRCm39) E417G possibly damaging Het
Vmn2r9 C A 5: 108,995,701 (GRCm39) V316F probably benign Het
Zfp53 C T 17: 21,728,893 (GRCm39) P309S probably damaging Het
Other mutations in Itpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Itpa APN 2 130,514,019 (GRCm39) missense probably benign 0.14
IGL03202:Itpa APN 2 130,509,859 (GRCm39) unclassified probably benign
R0110:Itpa UTSW 2 130,521,338 (GRCm39) splice site probably benign
R3872:Itpa UTSW 2 130,522,930 (GRCm39) missense probably damaging 1.00
R3874:Itpa UTSW 2 130,522,930 (GRCm39) missense probably damaging 1.00
R7768:Itpa UTSW 2 130,509,836 (GRCm39) missense probably damaging 1.00
R8708:Itpa UTSW 2 130,517,639 (GRCm39) missense probably damaging 0.97
R9089:Itpa UTSW 2 130,509,857 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTGGGCTTCTTCCTATGCAG -3'
(R):5'- CCAAGAACTGGCTCCTGATG -3'

Sequencing Primer
(F):5'- TTATGGGGCTCACATAACTGAAGCC -3'
(R):5'- GATGCTGCCTGGATCTCCTG -3'
Posted On 2015-04-06