Incidental Mutation 'R4087:Tppp2'
ID 317431
Institutional Source Beutler Lab
Gene Symbol Tppp2
Ensembl Gene ENSMUSG00000008813
Gene Name tubulin polymerization-promoting protein family member 2
Synonyms LOC219038, LOC386487
MMRRC Submission 040980-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R4087 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52155887-52158161 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 52156957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008957] [ENSMUST00000089771] [ENSMUST00000177625]
AlphaFold Q0P5Y3
Predicted Effect probably null
Transcript: ENSMUST00000008957
SMART Domains Protein: ENSMUSP00000008957
Gene: ENSMUSG00000008813

DomainStartEndE-ValueType
Pfam:p25-alpha 6 167 1.6e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089771
SMART Domains Protein: ENSMUSP00000087203
Gene: ENSMUSG00000068392

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:RnaseA 27 149 1.9e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177625
SMART Domains Protein: ENSMUSP00000136454
Gene: ENSMUSG00000008813

DomainStartEndE-ValueType
Pfam:p25-alpha 5 169 5.9e-57 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,473,678 (GRCm39) S80P probably damaging Het
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Col6a6 A T 9: 105,661,155 (GRCm39) I318N possibly damaging Het
Csmd1 T A 8: 16,042,738 (GRCm39) I2332F probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dym T A 18: 75,363,172 (GRCm39) Y559N probably damaging Het
Eif3g A G 9: 20,809,248 (GRCm39) V59A possibly damaging Het
Fam171a1 G A 2: 3,227,333 (GRCm39) R697Q probably damaging Het
Fermt3 T A 19: 6,980,945 (GRCm39) probably null Het
Git2 A G 5: 114,902,466 (GRCm39) Y189H probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm7713 C T 15: 59,866,258 (GRCm39) noncoding transcript Het
Gpr108 A G 17: 57,544,925 (GRCm39) Y313H probably damaging Het
Itprid2 C T 2: 79,488,691 (GRCm39) Q925* probably null Het
Kcnh8 T C 17: 53,110,428 (GRCm39) I213T possibly damaging Het
Lpgat1 A T 1: 191,495,728 (GRCm39) I306F possibly damaging Het
Mapk8 T C 14: 33,112,205 (GRCm39) T228A probably benign Het
Med12l T C 3: 59,205,342 (GRCm39) V2101A probably benign Het
Mettl13 T C 1: 162,375,771 (GRCm39) K19E possibly damaging Het
Mta1 A G 12: 113,075,802 (GRCm39) Y22C probably damaging Het
Notch3 T C 17: 32,377,087 (GRCm39) T273A possibly damaging Het
Notch4 T C 17: 34,803,409 (GRCm39) W1443R probably damaging Het
Npy5r T A 8: 67,134,697 (GRCm39) D32V probably damaging Het
Or8k36-ps1 C A 2: 86,437,297 (GRCm39) *206L probably null Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Rnf144a C T 12: 26,377,591 (GRCm39) V51I probably damaging Het
Rxfp1 T A 3: 79,552,256 (GRCm39) T682S probably damaging Het
Sertad2 GCCCC GCCCCC 11: 20,598,664 (GRCm39) probably null Het
Sos1 A G 17: 80,756,781 (GRCm39) V257A probably benign Het
Tdrd9 C T 12: 111,979,920 (GRCm39) Q256* probably null Het
Tmprss11d A T 5: 86,457,138 (GRCm39) S174T probably damaging Het
Tor1b T A 2: 30,846,531 (GRCm39) I238N probably damaging Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Trim30d T C 7: 104,137,007 (GRCm39) N66D probably damaging Het
Usp48 A G 4: 137,350,651 (GRCm39) N46S possibly damaging Het
Vmn2r115 A C 17: 23,565,358 (GRCm39) Q415P probably benign Het
Wbp2nl A G 15: 82,192,762 (GRCm39) M149V probably benign Het
Zfp106 T C 2: 120,357,380 (GRCm39) probably null Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Other mutations in Tppp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0032:Tppp2 UTSW 14 52,156,866 (GRCm39) missense possibly damaging 0.70
R0032:Tppp2 UTSW 14 52,156,866 (GRCm39) missense possibly damaging 0.70
R0352:Tppp2 UTSW 14 52,156,807 (GRCm39) missense possibly damaging 0.58
R0932:Tppp2 UTSW 14 52,157,881 (GRCm39) splice site probably benign
R1860:Tppp2 UTSW 14 52,158,062 (GRCm39) missense probably benign 0.00
R1861:Tppp2 UTSW 14 52,158,062 (GRCm39) missense probably benign 0.00
R4484:Tppp2 UTSW 14 52,156,868 (GRCm39) missense probably damaging 0.99
R4801:Tppp2 UTSW 14 52,156,805 (GRCm39) missense probably benign 0.00
R4802:Tppp2 UTSW 14 52,156,805 (GRCm39) missense probably benign 0.00
R5071:Tppp2 UTSW 14 52,157,912 (GRCm39) missense probably benign 0.01
R5073:Tppp2 UTSW 14 52,157,912 (GRCm39) missense probably benign 0.01
R5103:Tppp2 UTSW 14 52,156,909 (GRCm39) missense probably benign 0.05
R5407:Tppp2 UTSW 14 52,156,955 (GRCm39) splice site probably null
R5992:Tppp2 UTSW 14 52,156,392 (GRCm39) missense probably benign 0.08
R6124:Tppp2 UTSW 14 52,156,937 (GRCm39) missense probably benign 0.12
R7372:Tppp2 UTSW 14 52,156,865 (GRCm39) missense probably benign 0.08
R7506:Tppp2 UTSW 14 52,158,058 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TTTCTGTCTGACTGGCCAGG -3'
(R):5'- GAGATGAACATTCTCACTGAGGTC -3'

Sequencing Primer
(F):5'- CCAGGGCCAAGAATGCCAG -3'
(R):5'- GAAGTACCAAGACATTCGGTTC -3'
Posted On 2015-05-15