Incidental Mutation 'R5992:Tppp2'
ID480911
Institutional Source Beutler Lab
Gene Symbol Tppp2
Ensembl Gene ENSMUSG00000008813
Gene Nametubulin polymerization-promoting protein family member 2
SynonymsLOC219038, LOC386487
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #R5992 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location51918425-51920700 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 51918935 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 50 (V50L)
Ref Sequence ENSEMBL: ENSMUSP00000136454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008957] [ENSMUST00000089771] [ENSMUST00000177625] [ENSMUST00000227237] [ENSMUST00000227402]
Predicted Effect probably benign
Transcript: ENSMUST00000008957
AA Change: V50L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000008957
Gene: ENSMUSG00000008813
AA Change: V50L

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 benign
Transcript: ENSMUST00000177625
AA Change: V50L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136454
Gene: ENSMUSG00000008813
AA Change: V50L

DomainStartEndE-ValueType
Pfam:p25-alpha 5 169 5.9e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227237
Predicted Effect probably benign
Transcript: ENSMUST00000227402
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,508,623 L188* probably null Het
Acod1 C T 14: 103,055,035 R332C probably damaging Het
Adamts3 T A 5: 89,691,335 K852M probably damaging Het
Adm A T 7: 110,627,696 probably benign Het
Aff4 A G 11: 53,373,010 S286G probably damaging Het
Ank2 A G 3: 126,959,651 probably null Het
Aqr A T 2: 114,143,049 Y427* probably null Het
Arid1b C A 17: 4,994,956 probably benign Het
Arpp21 T A 9: 112,143,485 R259* probably null Het
Cep290 C T 10: 100,543,321 A55V possibly damaging Het
Chsy3 GT G 18: 59,176,166 probably null Het
Clcn2 T C 16: 20,713,654 E68G possibly damaging Het
Corin T A 5: 72,316,389 H699L probably benign Het
Cyld T C 8: 88,733,053 Y446H probably damaging Het
Dcst1 T A 3: 89,352,576 E613V probably damaging Het
Dlk1 T C 12: 109,455,581 C74R probably damaging Het
Dnah12 A C 14: 26,697,341 K128T probably benign Het
Dspp T A 5: 104,178,451 S893R unknown Het
Dtl A T 1: 191,568,572 probably null Het
F2rl1 T A 13: 95,514,270 S35C probably benign Het
Fcgbp A T 7: 28,120,534 Y2562F probably benign Het
Fgf10 A T 13: 118,715,508 D42V probably benign Het
Gm10271 A T 10: 116,972,592 F6L probably damaging Het
Gm21190 T A 5: 15,524,851 E256D probably damaging Het
Gm5157 A G 7: 21,185,421 S66P probably damaging Het
Gm884 A T 11: 103,613,792 M2450K possibly damaging Het
Hal T G 10: 93,490,916 L138R probably damaging Het
Hsd17b3 T C 13: 64,059,470 probably null Het
Lrsam1 T C 2: 32,955,222 T94A probably benign Het
Macc1 T C 12: 119,447,585 V696A probably damaging Het
Magi2 G A 5: 19,227,291 M1I probably null Het
March7 C A 2: 60,245,220 N674K probably benign Het
Mfap1b A G 2: 121,470,295 V34A probably benign Het
Mob3b G A 4: 35,084,069 S40L probably benign Het
Ndufs2 A T 1: 171,236,418 V386E probably damaging Het
Nfic C T 10: 81,420,747 A19T probably damaging Het
Nfs1 G A 2: 156,134,453 R174W probably damaging Het
Nin G T 12: 70,045,524 S670R possibly damaging Het
Nrxn1 T C 17: 90,623,507 I754V probably benign Het
Nwd1 T C 8: 72,653,573 probably null Het
Olfr1231 T A 2: 89,303,359 T78S possibly damaging Het
Olfr1238 T A 2: 89,406,879 M67L probably benign Het
Olfr575 G T 7: 102,955,009 N197K probably benign Het
Pcdhgb8 A G 18: 37,763,449 E524G probably damaging Het
Phlpp1 A T 1: 106,318,993 R638* probably null Het
Pkmyt1 G C 17: 23,735,326 W360S probably benign Het
Plxnd1 C A 6: 115,967,787 probably null Het
Poldip3 A T 15: 83,129,229 N322K probably damaging Het
Prmt3 A T 7: 49,828,947 I419L probably benign Het
Prss36 A T 7: 127,944,830 V123E probably damaging Het
Prss58 A G 6: 40,897,769 I46T probably damaging Het
Rac1 T C 5: 143,506,998 probably benign Het
Rb1cc1 A G 1: 6,233,996 Y36C probably damaging Het
Rif1 C G 2: 52,095,844 L614V probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rp1 A T 1: 4,148,703 F951L unknown Het
Rps6ka5 G T 12: 100,575,250 P417T possibly damaging Het
Ryr1 A G 7: 29,067,637 W2967R probably damaging Het
Sacs T A 14: 61,205,543 S1679R probably damaging Het
Scn1a A C 2: 66,335,456 W153G probably damaging Het
Serpinb7 A G 1: 107,445,996 Y114C probably damaging Het
Son T C 16: 91,658,904 M1513T probably benign Het
Spag8 C T 4: 43,651,534 V447M probably benign Het
St3gal2 T A 8: 110,969,553 Y257N probably damaging Het
Tars A T 15: 11,397,196 D40E probably damaging Het
Tlr3 T C 8: 45,397,814 H158R probably benign Het
Trrap T C 5: 144,810,184 S1503P probably benign Het
Ttll4 T G 1: 74,685,391 S573R probably damaging Het
Vmn2r104 A T 17: 20,029,485 N841K probably damaging Het
Vmn2r3 A T 3: 64,259,647 C688S probably damaging Het
Vps16 T C 2: 130,424,449 probably null Het
Zfp608 G A 18: 54,899,248 T540I probably benign Het
Zfp775 G A 6: 48,619,816 R208Q 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
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
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'- CCCTGGTGCTGCTGTAGTTTAC -3'
(R):5'- ATCTTTAGAACTATGCCAGGCGG -3'

Sequencing Primer
(F):5'- GTAGTTTACAGTGCTCCTTACCC -3'
(R):5'- CTGTACTCAGGAGACAGGCTG -3'
Posted On2017-06-26