Incidental Mutation 'R8818:Tpgs2'
ID 672897
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 # R8818 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 25127223-25169007 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25158308 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 33 (V33E)
Ref Sequence ENSEMBL: ENSMUSP00000111484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115817] [ENSMUST00000148255]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000115817
AA Change: V33E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: V33E

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 damaging
Transcript: ENSMUST00000148255
AA Change: V33E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: V33E

DomainStartEndE-ValueType
SMI1_KNR4 43 187 1.04e-3 SMART
Meta Mutation Damage Score 0.7111 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T G 3: 36,996,548 M3011R possibly damaging Het
Abca14 G T 7: 120,216,301 M257I probably benign Het
Adam23 T C 1: 63,545,468 V345A probably damaging Het
Anxa6 T G 11: 55,011,752 N52T possibly damaging Het
Arhgef15 G A 11: 68,951,112 H496Y probably damaging Het
Atp2a3 A G 11: 72,981,939 E771G probably damaging Het
B3gnt5 A G 16: 19,769,597 T189A possibly damaging Het
Becn1 A T 11: 101,295,404 S125T probably damaging Het
Ccdc180 A G 4: 45,900,484 M283V probably benign Het
Cdh17 T C 4: 11,771,323 F35S probably damaging Het
Clcn1 T A 6: 42,305,543 I515N probably damaging Het
Cyp4f17 A G 17: 32,524,094 Y247C probably damaging Het
Dcp1a T A 14: 30,518,942 H236Q possibly damaging Het
Dnah11 T A 12: 117,911,029 N4034Y probably damaging Het
Dsg1a A G 18: 20,340,542 I891V possibly damaging Het
Eid3 A G 10: 82,867,607 N301D probably damaging Het
Fbrs C A 7: 127,479,522 D108E unknown Het
Fbxw14 A C 9: 109,287,003 probably benign Het
Fzd8 A G 18: 9,214,474 T519A probably benign Het
Gldc C G 19: 30,100,812 M928I probably benign Het
Gm35911 A T 5: 99,941,235 N120Y probably damaging Het
Gpr3 C A 4: 133,211,227 V45L possibly damaging Het
Gramd1b A T 9: 40,304,484 I690K probably benign Het
Grhl2 T A 15: 37,270,668 D33E probably damaging Het
Kcnj4 C A 15: 79,485,719 R20L probably damaging Het
Klhl5 A G 5: 65,148,646 I319V probably benign Het
Lars2 A T 9: 123,392,827 E135D possibly damaging Het
Map9 T A 3: 82,383,963 Y602N possibly damaging Het
Mphosph9 A T 5: 124,324,964 L6* probably null Het
Naa35 C T 13: 59,600,947 T131M probably damaging Het
Nucb2 T A 7: 116,521,901 L22Q possibly damaging Het
Olfr1066 C A 2: 86,455,734 C179F probably damaging Het
Olfr943 A G 9: 39,184,766 Y193C probably damaging Het
Pcdhb6 C T 18: 37,335,784 T586I probably benign Het
Ppcs A T 4: 119,422,133 L74Q probably damaging Het
Ppp6r3 A T 19: 3,467,216 V677D probably benign Het
Psg27 C T 7: 18,560,412 G357S probably damaging Het
Ptgdr2 A G 19: 10,941,016 N299S probably damaging Het
Relb T A 7: 19,619,837 I39F probably damaging Het
Ripor2 T A 13: 24,717,668 S907R possibly damaging Het
Rnf170 T G 8: 26,139,015 D172E probably benign Het
Rnf31 C A 14: 55,594,939 Q273K probably benign Het
Rrp36 A T 17: 46,672,410 S93T probably damaging Het
Rsad1 A T 11: 94,548,274 V120D probably benign Het
Ryr3 C T 2: 112,831,096 A1870T probably damaging Het
Serpina10 T G 12: 103,628,804 D52A probably benign Het
Slc47a1 A G 11: 61,370,229 I115T probably benign Het
Spag17 T A 3: 100,013,227 M426K probably benign Het
Sppl2b TGTCACAGGT TGT 10: 80,866,069 probably null Het
Sptbn4 T G 7: 27,364,167 E2283A possibly damaging Het
Top3a A G 11: 60,743,051 C740R probably damaging Het
Treh T C 9: 44,681,526 I116T probably damaging Het
Trpm3 A T 19: 22,978,588 N1138I possibly damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 116,068,172 probably benign Het
Zswim9 G T 7: 13,260,529 Q567K probably benign 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
R8722:Tpgs2 UTSW 18 25141622 missense probably benign 0.17
R8808:Tpgs2 UTSW 18 25151218 missense probably damaging 1.00
R9009:Tpgs2 UTSW 18 25168720 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGACACTTTGCTGGGAAAGTG -3'
(R):5'- TGCCATGTCTTCCCAAGTTATG -3'

Sequencing Primer
(F):5'- AAAGGCAGCTGTTACCTGAC -3'
(R):5'- CAAGTTATGGTACTGGGATTGGG -3'
Posted On 2021-04-30