Incidental Mutation 'IGL02234:Tpgs2'
ID 285866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpgs2
Ensembl Gene ENSMUSG00000024269
Gene Name tubulin polyglutamylase complex subunit 2
Synonyms 5730494M16Rik, 5730437P09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02234
Quality Score
Chromosome 18
Chromosomal Location 25260280-25301990 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 25282301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115817] [ENSMUST00000148255]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000115817
SMART Domains Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269

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 null
Transcript: ENSMUST00000148255
SMART Domains Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269

SMI1_KNR4 43 187 1.04e-3 SMART
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,645,179 (GRCm39) T1010M possibly damaging Het
Atr A G 9: 95,829,303 (GRCm39) probably benign Het
Cdc42bpa A T 1: 179,978,756 (GRCm39) K1585* probably null Het
Cdh19 T C 1: 110,859,956 (GRCm39) D175G probably damaging Het
Celsr3 G T 9: 108,707,159 (GRCm39) R1214L probably benign Het
Chchd1 T C 14: 20,753,478 (GRCm39) probably null Het
Col4a1 T C 8: 11,266,713 (GRCm39) K1165E probably damaging Het
Col6a4 A G 9: 105,890,631 (GRCm39) F1888L possibly damaging Het
Csmd3 C A 15: 47,811,512 (GRCm39) R1193L probably damaging Het
Cyp2d11 T A 15: 82,274,340 (GRCm39) H347L probably benign Het
Cyp4f13 A G 17: 33,143,748 (GRCm39) probably benign Het
Dop1b T C 16: 93,549,039 (GRCm39) V193A probably benign Het
Dus4l T C 12: 31,691,495 (GRCm39) probably benign Het
Epc1 G A 18: 6,439,938 (GRCm39) H79Y probably damaging Het
Gm12588 T A 11: 121,799,151 (GRCm39) Het
Gpr107 T C 2: 31,067,845 (GRCm39) Y222H probably damaging Het
Gzmn C T 14: 56,406,464 (GRCm39) probably null Het
Helq A G 5: 100,944,336 (GRCm39) I258T possibly damaging Het
Hsp90ab1 T C 17: 45,880,661 (GRCm39) K137R probably benign Het
Htr1f T A 16: 64,746,430 (GRCm39) R287S probably damaging Het
Il20ra A C 10: 19,625,018 (GRCm39) D99A probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mboat7 A G 7: 3,694,350 (GRCm39) Y34H probably damaging Het
Mid2 T C X: 139,664,418 (GRCm39) S646P probably damaging Het
Msh6 T C 17: 88,294,229 (GRCm39) S995P probably damaging Het
Mtmr10 A G 7: 63,949,350 (GRCm39) I108V probably benign Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Nlrp4f A G 13: 65,342,302 (GRCm39) F448L probably damaging Het
Odc1 C A 12: 17,598,621 (GRCm39) D220E possibly damaging Het
Or8k33 T C 2: 86,383,610 (GRCm39) N286S probably damaging Het
Pax7 A G 4: 139,555,901 (GRCm39) I189T probably damaging Het
Pcdh12 T A 18: 38,416,588 (GRCm39) H179L probably damaging Het
Pcdh15 A T 10: 74,467,694 (GRCm39) M1836L probably benign Het
Psmc5 T C 11: 106,153,836 (GRCm39) V390A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rpgrip1 A G 14: 52,368,766 (GRCm39) probably benign Het
Sema5a C T 15: 32,679,318 (GRCm39) R866C probably damaging Het
Stox2 A G 8: 47,646,647 (GRCm39) F271S probably damaging Het
Ttll8 T A 15: 88,798,252 (GRCm39) I828F possibly damaging Het
Vmn1r7 T C 6: 57,001,537 (GRCm39) Y241C probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Tpgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Tpgs2 APN 18 25,273,637 (GRCm39) missense possibly damaging 0.93
IGL02184:Tpgs2 APN 18 25,273,630 (GRCm39) missense probably damaging 1.00
IGL02747:Tpgs2 APN 18 25,272,202 (GRCm39) intron probably benign
PIT4466001:Tpgs2 UTSW 18 25,301,652 (GRCm39) missense possibly damaging 0.77
PIT4472001:Tpgs2 UTSW 18 25,301,652 (GRCm39) missense possibly damaging 0.77
R0004:Tpgs2 UTSW 18 25,291,295 (GRCm39) splice site probably benign
R0139:Tpgs2 UTSW 18 25,282,242 (GRCm39) missense probably damaging 1.00
R0898:Tpgs2 UTSW 18 25,282,207 (GRCm39) missense probably damaging 1.00
R1415:Tpgs2 UTSW 18 25,301,610 (GRCm39) missense probably damaging 1.00
R1590:Tpgs2 UTSW 18 25,273,630 (GRCm39) missense probably damaging 1.00
R1974:Tpgs2 UTSW 18 25,273,593 (GRCm39) missense probably damaging 1.00
R2144:Tpgs2 UTSW 18 25,301,598 (GRCm39) missense possibly damaging 0.93
R4811:Tpgs2 UTSW 18 25,262,897 (GRCm39) intron probably benign
R4851:Tpgs2 UTSW 18 25,284,305 (GRCm39) missense possibly damaging 0.94
R6386:Tpgs2 UTSW 18 25,272,081 (GRCm39) missense possibly damaging 0.74
R6564:Tpgs2 UTSW 18 25,291,344 (GRCm39) missense probably damaging 0.99
R6788:Tpgs2 UTSW 18 25,262,927 (GRCm39) missense probably benign 0.04
R7112:Tpgs2 UTSW 18 25,282,194 (GRCm39) missense probably damaging 1.00
R7824:Tpgs2 UTSW 18 25,262,922 (GRCm39) missense probably benign
R8722:Tpgs2 UTSW 18 25,274,679 (GRCm39) missense probably benign 0.17
R8808:Tpgs2 UTSW 18 25,284,275 (GRCm39) missense probably damaging 1.00
R8818:Tpgs2 UTSW 18 25,291,365 (GRCm39) missense probably damaging 1.00
R9009:Tpgs2 UTSW 18 25,301,777 (GRCm39) unclassified probably benign
Posted On 2015-04-16