Incidental Mutation 'R8722:Tpgs2'
ID 662193
Institutional Source Beutler Lab
Gene Symbol Tpgs2
Ensembl Gene ENSMUSG00000024269
Gene Name tubulin polyglutamylase complex subunit 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8722 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 25127223-25169007 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25141622 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 132 (Q132L)
Ref Sequence ENSEMBL: ENSMUSP00000111484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115817] [ENSMUST00000148255]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000115817
AA Change: Q132L

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: Q132L

DomainStartEndE-ValueType
SMI1_KNR4 43 187 1.04e-3 SMART
low complexity region 253 264 N/A INTRINSIC
low complexity region 271 293 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148255
AA Change: Q132L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: Q132L

DomainStartEndE-ValueType
SMI1_KNR4 43 187 1.04e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A G 2: 103,992,756 C61R probably benign Het
4933427D14Rik A G 11: 72,189,596 F415L probably benign Het
Abcc2 G A 19: 43,836,613 G1446D possibly damaging Het
Acaca A T 11: 84,338,457 E1703D possibly damaging Het
Acap3 T C 4: 155,905,958 *834Q probably null Het
Adam22 A G 5: 8,116,554 S726P probably benign Het
Adamtsl3 T C 7: 82,595,537 probably null Het
Adgrg6 T A 10: 14,420,444 I1071F probably benign Het
Agxt2 A T 15: 10,373,739 D77V probably benign Het
Ahnak C A 19: 9,013,346 S3998* probably null Het
Asns T A 6: 7,676,085 I462F probably damaging Het
Barx2 G C 9: 31,912,984 C36W probably damaging Het
Bnc2 A G 4: 84,293,646 V162A possibly damaging Het
Bptf A G 11: 107,131,469 S152P unknown Het
Brpf3 T C 17: 28,810,536 L490P probably benign Het
Carmil1 T C 13: 24,036,585 D1052G probably benign Het
Cdk17 A G 10: 93,228,703 H311R probably damaging Het
Cenpj G A 14: 56,535,518 R1022C probably damaging Het
Cog5 A G 12: 31,919,704 D741G possibly damaging Het
Csmd2 T A 4: 128,551,950 probably benign Het
Cyr61 T A 3: 145,648,829 N109I probably damaging Het
Dnah17 G A 11: 118,070,457 Q2568* probably null Het
Dspp A G 5: 104,178,567 D932G unknown Het
Dtwd2 T C 18: 49,700,318 T223A probably damaging Het
Fzd8 A G 18: 9,213,686 N256S possibly damaging Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,667,034 probably benign Het
Gm9936 T C 5: 114,857,454 Y34C unknown Het
Gstcd T A 3: 133,072,061 K330* probably null Het
Igf2bp1 A G 11: 95,970,780 V277A possibly damaging Het
Kidins220 G A 12: 25,001,594 V332I probably benign Het
Kif24 T C 4: 41,394,233 H1014R probably benign Het
Lrrc43 T C 5: 123,508,079 Y639H possibly damaging Het
Med22 T C 2: 26,910,301 T39A probably benign Het
Morn3 T C 5: 123,041,114 Y91C probably damaging Het
Myo1a T C 10: 127,706,838 M115T probably damaging Het
Olfr1493-ps1 T C 19: 13,726,669 M136T possibly damaging Het
Olfr392 T A 11: 73,815,056 I9F probably benign Het
Olfr667 C T 7: 104,916,501 R265H probably benign Het
Pdcl T C 2: 37,357,305 D24G probably benign Het
Pde10a G A 17: 8,944,940 C250Y probably benign Het
Pla2g10 A T 16: 13,730,390 L8M unknown Het
Plch2 A T 4: 154,985,403 probably benign Het
Ppp1r42 T C 1: 9,985,669 K198R probably benign Het
Prlh G T 1: 90,953,175 R23L possibly damaging Het
Ranbp2 C A 10: 58,476,227 T923K probably damaging Het
Rps11 T C 7: 45,123,192 N65S probably benign Het
Ryr3 T C 2: 112,772,771 T2463A probably benign Het
Shank2 C T 7: 144,175,748 probably benign Het
Slc12a1 T A 2: 125,160,598 V166E probably damaging Het
Slc6a9 C T 4: 117,857,255 R97C unknown Het
Slpi A C 2: 164,356,055 M1R probably null Het
Syne2 T A 12: 75,925,321 V994D probably benign Het
Tacc3 T C 5: 33,668,209 Y435H probably damaging Het
Usp13 T A 3: 32,901,965 I462N probably benign Het
Zfp281 C T 1: 136,625,596 A104V probably benign Het
Zfp40 A G 17: 23,176,183 C477R probably damaging Het
Other mutations in Tpgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Tpgs2 APN 18 25140580 missense possibly damaging 0.93
IGL02184:Tpgs2 APN 18 25140573 missense probably damaging 1.00
IGL02234:Tpgs2 APN 18 25149244 critical splice acceptor site probably null
IGL02747:Tpgs2 APN 18 25139145 intron probably benign
PIT4466001:Tpgs2 UTSW 18 25168595 missense possibly damaging 0.77
PIT4472001:Tpgs2 UTSW 18 25168595 missense possibly damaging 0.77
R0004:Tpgs2 UTSW 18 25158238 splice site probably benign
R0139:Tpgs2 UTSW 18 25149185 missense probably damaging 1.00
R0898:Tpgs2 UTSW 18 25149150 missense probably damaging 1.00
R1415:Tpgs2 UTSW 18 25168553 missense probably damaging 1.00
R1590:Tpgs2 UTSW 18 25140573 missense probably damaging 1.00
R1974:Tpgs2 UTSW 18 25140536 missense probably damaging 1.00
R2144:Tpgs2 UTSW 18 25168541 missense possibly damaging 0.93
R4811:Tpgs2 UTSW 18 25129840 intron probably benign
R4851:Tpgs2 UTSW 18 25151248 missense possibly damaging 0.94
R6386:Tpgs2 UTSW 18 25139024 missense possibly damaging 0.74
R6564:Tpgs2 UTSW 18 25158287 missense probably damaging 0.99
R6788:Tpgs2 UTSW 18 25129870 missense probably benign 0.04
R7112:Tpgs2 UTSW 18 25149137 missense probably damaging 1.00
R7824:Tpgs2 UTSW 18 25129865 missense probably benign
R8808:Tpgs2 UTSW 18 25151218 missense probably damaging 1.00
R8818:Tpgs2 UTSW 18 25158308 missense probably damaging 1.00
R9009:Tpgs2 UTSW 18 25168720 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATTCAGTGACGGCTGACAG -3'
(R):5'- TCCATTCCCAGGAAGTCCAG -3'

Sequencing Primer
(F):5'- GCTGACAGGCAAGCTCAG -3'
(R):5'- CCAGGAAGTCCAGTGATTTTTC -3'
Posted On 2021-03-08