Incidental Mutation 'R0352:Tppp2'
ID29724
Institutional Source Beutler Lab
Gene Symbol Tppp2
Ensembl Gene ENSMUSG00000008813
Gene Nametubulin polymerization-promoting protein family member 2
SynonymsLOC219038, LOC386487
MMRRC Submission 038558-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #R0352 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location51918425-51920700 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51919350 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 61 (N61K)
Ref Sequence ENSEMBL: ENSMUSP00000136454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008957] [ENSMUST00000089771] [ENSMUST00000177625]
Predicted Effect possibly damaging
Transcript: ENSMUST00000008957
AA Change: N61K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000008957
Gene: ENSMUSG00000008813
AA Change: N61K

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 possibly damaging
Transcript: ENSMUST00000177625
AA Change: N61K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136454
Gene: ENSMUSG00000008813
AA Change: N61K

DomainStartEndE-ValueType
Pfam:p25-alpha 5 169 5.9e-57 PFAM
Meta Mutation Damage Score 0.0696 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.0%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,138,030 T64M possibly damaging Het
3110040N11Rik G T 7: 81,788,460 N49K probably benign Het
Adrb1 T A 19: 56,722,861 F164I probably damaging Het
Aplf C T 6: 87,653,884 V190I probably benign Het
Aqr A G 2: 114,170,052 Y50H probably damaging Het
Arfgef3 A C 10: 18,661,387 I182R probably benign Het
BC080695 A T 4: 143,571,308 probably benign Het
Cacna1b G A 2: 24,625,232 probably benign Het
Casp9 A G 4: 141,805,530 T246A probably damaging Het
Clcn6 A G 4: 148,014,606 S427P probably damaging Het
Cnga1 T C 5: 72,604,503 N556S possibly damaging Het
Cntnap2 G A 6: 45,992,084 probably null Het
Col11a2 T G 17: 34,042,527 V120G probably benign Het
Cux2 A C 5: 121,884,739 probably benign Het
Dmrt2 T C 19: 25,678,662 S542P probably damaging Het
Dnah7b A G 1: 46,277,126 H3133R probably damaging Het
Drosha G A 15: 12,837,288 R286Q unknown Het
Eipr1 A G 12: 28,766,785 D47G probably damaging Het
Fam192a A G 8: 94,588,011 F73S probably damaging Het
Fras1 T G 5: 96,726,540 Y2275D probably damaging Het
Gm13083 A T 4: 143,615,989 D222V possibly damaging Het
Grm4 C T 17: 27,451,891 probably benign Het
Hebp1 A G 6: 135,152,920 V100A possibly damaging Het
Hivep2 G A 10: 14,143,295 V1937I possibly damaging Het
Hs3st6 T C 17: 24,758,194 V216A probably damaging Het
Hsd17b4 T C 18: 50,191,784 I688T probably benign Het
Hydin T C 8: 110,569,901 probably null Het
Iws1 A G 18: 32,084,205 E426G probably damaging Het
Klrb1f T C 6: 129,053,717 S64P probably damaging Het
Lacc1 C T 14: 77,035,189 G56R probably damaging Het
Lcmt2 A G 2: 121,138,896 S569P probably benign Het
Lipm C T 19: 34,112,875 probably benign Het
Lum A G 10: 97,568,609 H122R probably damaging Het
Magi2 A G 5: 20,065,666 Y15C probably damaging Het
Mal A T 2: 127,640,366 I39N probably damaging Het
Mgme1 A G 2: 144,276,399 H197R probably benign Het
Mmrn1 A T 6: 60,944,971 K137N probably benign Het
Myh3 T A 11: 67,090,428 C706S possibly damaging Het
Myo18b A T 5: 112,874,523 probably benign Het
Myom1 A G 17: 71,045,749 E356G possibly damaging Het
Nfib A G 4: 82,504,717 probably benign Het
Npc1l1 T C 11: 6,223,076 M788V probably benign Het
Olfr459 C T 6: 41,772,124 M58I probably damaging Het
Pdha2 A G 3: 141,211,696 V17A probably benign Het
Pgap1 A T 1: 54,486,458 probably benign Het
Polr1a G T 6: 71,920,763 probably benign Het
Ppp1r16a C T 15: 76,690,799 probably benign Het
Prmt2 A T 10: 76,208,503 V405D possibly damaging Het
Psg26 T A 7: 18,475,256 Y409F probably benign Het
Ptges G T 2: 30,903,132 Y29* probably null Het
Ptrhd1 A G 12: 4,236,399 T97A probably benign Het
Ripk3 T A 14: 55,786,743 probably benign Het
Rnf114 A T 2: 167,511,216 I136F probably benign Het
Serinc5 A G 13: 92,707,989 probably null Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc23a2 C A 2: 132,060,796 M495I probably benign Het
Slc52a3 T A 2: 152,007,513 L360* probably null Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Syt5 A G 7: 4,541,171 V290A probably benign Het
Szt2 G A 4: 118,382,593 A1931V unknown Het
Tasp1 A G 2: 139,951,458 probably null Het
Tcp10a C A 17: 7,326,406 D43E probably damaging Het
Tnfsf11 A T 14: 78,278,968 Y187N probably benign Het
Wwtr1 A T 3: 57,575,127 W100R probably damaging Het
Zfp623 A G 15: 75,948,584 D463G probably benign Het
Zfp990 A G 4: 145,536,604 I57M probably damaging Het
Zmat5 G A 11: 4,722,413 C10Y 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
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
R4087:Tppp2 UTSW 14 51919500 splice site probably null
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
Predicted Primers PCR Primer
(F):5'- TGGGAACTGTCCCAGTCCCTATTC -3'
(R):5'- ACAGGTAGTGTACCACAGGCTATCC -3'

Sequencing Primer
(F):5'- CTATTCTCAACATTCATTGGCAGG -3'
(R):5'- acacctagaaccccagcc -3'
Posted On2013-04-24