Incidental Mutation 'R4087:Tppp2'
ID317431
Institutional Source Beutler Lab
Gene Symbol Tppp2
Ensembl Gene ENSMUSG00000008813
Gene Nametubulin polymerization-promoting protein family member 2
SynonymsLOC219038, LOC386487
MMRRC Submission 040980-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.187) question?
Stock #R4087 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location51918425-51920700 bp(+) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) T to C at 51919500 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008957] [ENSMUST00000089771] [ENSMUST00000177625]
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: 48,166,510 S80P probably damaging Het
Acss3 T G 10: 107,053,452 Y169S probably damaging Het
Cep250 G A 2: 155,992,632 R2159K probably damaging Het
Cldn34c4 A T X: 127,721,388 V153E probably damaging Het
Col4a4 T A 1: 82,523,922 Y370F unknown Het
Col6a6 A T 9: 105,783,956 I318N possibly damaging Het
Csmd1 T A 8: 15,992,738 I2332F probably damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Dym T A 18: 75,230,101 Y559N probably damaging Het
Eif3g A G 9: 20,897,952 V59A possibly damaging Het
Fam171a1 G A 2: 3,226,296 R697Q probably damaging Het
Fermt3 T A 19: 7,003,577 probably null Het
Git2 A G 5: 114,764,405 Y189H probably damaging Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gm7713 C T 15: 59,994,409 noncoding transcript Het
Gpr108 A G 17: 57,237,925 Y313H probably damaging Het
Kcnh8 T C 17: 52,803,400 I213T possibly damaging Het
Lpgat1 A T 1: 191,763,616 I306F possibly damaging Het
Mapk8 T C 14: 33,390,248 T228A probably benign Het
Med12l T C 3: 59,297,921 V2101A probably benign Het
Mettl13 T C 1: 162,548,202 K19E possibly damaging Het
Mta1 A G 12: 113,112,182 Y22C probably damaging Het
Notch3 T C 17: 32,158,113 T273A possibly damaging Het
Notch4 T C 17: 34,584,435 W1443R probably damaging Het
Npy5r T A 8: 66,682,045 D32V probably damaging Het
Olfr1083-ps C A 2: 86,606,953 *206L probably null Het
Rbm47 A G 5: 66,022,737 M409T probably benign Het
Rnf144a C T 12: 26,327,592 V51I probably damaging Het
Rxfp1 T A 3: 79,644,949 T682S probably damaging Het
Sertad2 GCCCC GCCCCC 11: 20,648,664 probably null Het
Sos1 A G 17: 80,449,352 V257A probably benign Het
Ssfa2 C T 2: 79,658,347 Q925* probably null Het
Tdrd9 C T 12: 112,013,486 Q256* probably null Het
Tmprss11d A T 5: 86,309,279 S174T probably damaging Het
Tor1b T A 2: 30,956,519 I238N probably damaging Het
Traf3ip3 A G 1: 193,181,320 V414A probably damaging Het
Trim14 T A 4: 46,523,709 T110S probably benign Het
Trim30d T C 7: 104,487,800 N66D probably damaging Het
Usp48 A G 4: 137,623,340 N46S possibly damaging Het
Vmn2r115 A C 17: 23,346,384 Q415P probably benign Het
Wbp2nl A G 15: 82,308,561 M149V probably benign Het
Zfp106 T C 2: 120,526,899 probably null Het
Zfp281 T A 1: 136,626,121 I279N probably damaging Het
Other mutations in Tppp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0032:Tppp2 UTSW 14 51919409 missense possibly damaging 0.70
R0032:Tppp2 UTSW 14 51919409 missense possibly damaging 0.70
R0352:Tppp2 UTSW 14 51919350 missense possibly damaging 0.58
R0932:Tppp2 UTSW 14 51920424 splice site probably benign
R1860:Tppp2 UTSW 14 51920605 missense probably benign 0.00
R1861:Tppp2 UTSW 14 51920605 missense probably benign 0.00
R4484:Tppp2 UTSW 14 51919411 missense probably damaging 0.99
R4801:Tppp2 UTSW 14 51919348 missense probably benign 0.00
R4802:Tppp2 UTSW 14 51919348 missense probably benign 0.00
R5071:Tppp2 UTSW 14 51920455 missense probably benign 0.01
R5073:Tppp2 UTSW 14 51920455 missense probably benign 0.01
R5103:Tppp2 UTSW 14 51919452 missense probably benign 0.05
R5407:Tppp2 UTSW 14 51919498 splice site probably null
R5992:Tppp2 UTSW 14 51918935 missense probably benign 0.08
R6124:Tppp2 UTSW 14 51919480 missense probably benign 0.12
R7372:Tppp2 UTSW 14 51919408 missense probably benign 0.08
R7506:Tppp2 UTSW 14 51920601 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 On2015-05-15