Incidental Mutation 'PIT4466001:Tpgs2'
ID 555810
Institutional Source Beutler Lab
Gene Symbol Tpgs2
Ensembl Gene ENSMUSG00000024269
Gene Name tubulin polyglutamylase complex subunit 2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4466001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 25127223-25169007 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25168595 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 5 (T5M)
Ref Sequence ENSEMBL: ENSMUSP00000111484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000115817] [ENSMUST00000148255] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036619
SMART Domains Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632

Pfam:KIAA1328 92 414 1.4e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097643
SMART Domains Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632

Pfam:KIAA1328 92 414 2.5e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115817
AA Change: T5M

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: T5M

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: T5M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: T5M

SMI1_KNR4 43 187 1.04e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159605
Predicted Effect probably benign
Transcript: ENSMUST00000160530
Predicted Effect probably benign
Transcript: ENSMUST00000165400
SMART Domains Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632

Pfam:KIAA1328 92 414 1.6e-160 PFAM
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.9%
  • 10x: 85.1%
  • 20x: 72.5%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C A 9: 99,620,560 (GRCm38) P258T probably damaging Het
Adamts1 C A 16: 85,796,691 (GRCm38) G719* probably null Het
Ano5 G T 7: 51,544,851 (GRCm38) D111Y probably damaging Het
Arvcf T C 16: 18,402,949 (GRCm38) V714A possibly damaging Het
AU021092 T A 16: 5,220,389 (GRCm38) S85C probably damaging Het
Capn5 T C 7: 98,123,988 (GRCm38) D603G probably benign Het
Cbr1 T A 16: 93,609,804 (GRCm38) V136E probably damaging Het
Ccdc27 T C 4: 154,041,727 (GRCm38) M102V unknown Het
Ccr1 T C 9: 123,963,728 (GRCm38) Y255C probably damaging Het
Cep112 A G 11: 108,519,896 (GRCm38) T553A probably benign Het
Chd7 C T 4: 8,753,101 (GRCm38) L533F unknown Het
Cntnap1 T C 11: 101,177,305 (GRCm38) F48L probably benign Het
Cyb5r3 T C 15: 83,161,863 (GRCm38) D84G probably damaging Het
Ddx47 T C 6: 135,015,840 (GRCm38) I154T probably benign Het
Dnah6 A G 6: 73,208,641 (GRCm38) L99P probably benign Het
Dzank1 A G 2: 144,483,373 (GRCm38) I558T probably benign Het
Fbn1 T C 2: 125,306,501 (GRCm38) D2609G possibly damaging Het
Fhl5 C A 4: 25,211,194 (GRCm38) C166F probably damaging Het
Fndc1 A G 17: 7,750,374 (GRCm38) L1553P probably damaging Het
Frem1 G A 4: 82,972,137 (GRCm38) T1035I probably benign Het
Gm3099 A G 14: 4,000,549 (GRCm38) M128V probably benign Het
Gpaa1 C T 15: 76,334,740 (GRCm38) T594I probably benign Het
Hck C T 2: 153,124,271 (GRCm38) T55M probably damaging Het
Hectd4 T C 5: 121,333,060 (GRCm38) probably null Het
Ica1l C T 1: 60,015,836 (GRCm38) probably null Het
Ilf3 T C 9: 21,403,366 (GRCm38) Y765H unknown Het
Mast4 G A 13: 102,804,718 (GRCm38) T277M probably damaging Het
Mfsd6 T C 1: 52,708,897 (GRCm38) T270A probably benign Het
Mib1 G A 18: 10,775,541 (GRCm38) D498N probably benign Het
Naaladl1 A T 19: 6,114,633 (GRCm38) T576S possibly damaging Het
Ncoa6 A T 2: 155,405,657 (GRCm38) I1909N probably benign Het
Negr1 A G 3: 156,859,598 (GRCm38) D107G probably benign Het
Nlrc4 A G 17: 74,427,119 (GRCm38) M933T probably benign Het
Nmnat3 T G 9: 98,410,253 (GRCm38) F184V probably benign Het
Or4b12 A T 2: 90,266,295 (GRCm38) V45E probably damaging Het
Or5p81 T C 7: 108,667,536 (GRCm38) V40A possibly damaging Het
Or6c76 C T 10: 129,776,273 (GRCm38) R120C probably benign Het
Or7a42 C A 10: 78,955,842 (GRCm38) F212L probably benign Het
Pfkfb4 T C 9: 108,999,154 (GRCm38) Y86H probably benign Het
Pgm5 T G 19: 24,824,329 (GRCm38) Q178H probably damaging Het
Phrf1 C T 7: 141,258,812 (GRCm38) T640M unknown Het
Pramel34 A C 5: 93,636,288 (GRCm38) L439R probably damaging Het
Psg18 T G 7: 18,349,316 (GRCm38) T305P probably benign Het
Skil T A 3: 31,098,232 (GRCm38) V301D probably damaging Het
Slc36a1 C A 11: 55,219,069 (GRCm38) P68T probably damaging Het
Smim6 T C 11: 115,913,545 (GRCm38) F53L probably benign Het
St5 G A 7: 109,531,130 (GRCm38) A888V probably damaging Het
Trrap T A 5: 144,828,600 (GRCm38) V2523D probably benign Het
Usp9y A T Y: 1,432,197 (GRCm38) D429E probably damaging Het
Vmn1r125 A G 7: 21,272,893 (GRCm38) T239A probably benign Het
Vmn1r168 T C 7: 23,540,996 (GRCm38) F93L probably damaging Het
Vmn1r88 A G 7: 13,178,476 (GRCm38) N253S possibly damaging Het
Zfp644 C T 5: 106,636,477 (GRCm38) A735T probably damaging Het
Other mutations in Tpgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Tpgs2 APN 18 25,140,580 (GRCm38) missense possibly damaging 0.93
IGL02184:Tpgs2 APN 18 25,140,573 (GRCm38) missense probably damaging 1.00
IGL02234:Tpgs2 APN 18 25,149,244 (GRCm38) critical splice acceptor site probably null
IGL02747:Tpgs2 APN 18 25,139,145 (GRCm38) intron probably benign
PIT4472001:Tpgs2 UTSW 18 25,168,595 (GRCm38) missense possibly damaging 0.77
R0004:Tpgs2 UTSW 18 25,158,238 (GRCm38) splice site probably benign
R0139:Tpgs2 UTSW 18 25,149,185 (GRCm38) missense probably damaging 1.00
R0898:Tpgs2 UTSW 18 25,149,150 (GRCm38) missense probably damaging 1.00
R1415:Tpgs2 UTSW 18 25,168,553 (GRCm38) missense probably damaging 1.00
R1590:Tpgs2 UTSW 18 25,140,573 (GRCm38) missense probably damaging 1.00
R1974:Tpgs2 UTSW 18 25,140,536 (GRCm38) missense probably damaging 1.00
R2144:Tpgs2 UTSW 18 25,168,541 (GRCm38) missense possibly damaging 0.93
R4811:Tpgs2 UTSW 18 25,129,840 (GRCm38) intron probably benign
R4851:Tpgs2 UTSW 18 25,151,248 (GRCm38) missense possibly damaging 0.94
R6386:Tpgs2 UTSW 18 25,139,024 (GRCm38) missense possibly damaging 0.74
R6564:Tpgs2 UTSW 18 25,158,287 (GRCm38) missense probably damaging 0.99
R6788:Tpgs2 UTSW 18 25,129,870 (GRCm38) missense probably benign 0.04
R7112:Tpgs2 UTSW 18 25,149,137 (GRCm38) missense probably damaging 1.00
R7824:Tpgs2 UTSW 18 25,129,865 (GRCm38) missense probably benign
R8722:Tpgs2 UTSW 18 25,141,622 (GRCm38) missense probably benign 0.17
R8808:Tpgs2 UTSW 18 25,151,218 (GRCm38) missense probably damaging 1.00
R8818:Tpgs2 UTSW 18 25,158,308 (GRCm38) missense probably damaging 1.00
R9009:Tpgs2 UTSW 18 25,168,720 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-07