Incidental Mutation 'IGL02160:Tpgs2'
ID 282426
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 # IGL02160
Quality Score
Status
Chromosome 18
Chromosomal Location 25260280-25301990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25273637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 175 (F175L)
Ref Sequence ENSEMBL: ENSMUSP00000122538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115817] [ENSMUST00000148255]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000115817
AA Change: F175L

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: F175L

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 possibly damaging
Transcript: ENSMUST00000148255
AA Change: F175L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: F175L

DomainStartEndE-ValueType
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A G 9: 53,503,287 (GRCm39) V184A probably benign Het
Adam19 G A 11: 46,030,522 (GRCm39) C750Y probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabp2 T A 19: 4,134,868 (GRCm39) probably benign Het
Carmil3 T C 14: 55,731,015 (GRCm39) M94T possibly damaging Het
Ccdc107 A G 4: 43,495,736 (GRCm39) D213G probably damaging Het
Cdh23 T C 10: 60,433,544 (GRCm39) probably benign Het
Cfap251 A T 5: 123,394,081 (GRCm39) E323D unknown Het
Cfhr2 T A 1: 139,738,664 (GRCm39) D299V probably benign Het
Clcn7 T C 17: 25,368,004 (GRCm39) probably benign Het
Clspn G A 4: 126,475,303 (GRCm39) E1019K probably benign Het
Ctnna3 A G 10: 64,086,477 (GRCm39) T350A probably benign Het
Dmbt1 G A 7: 130,684,418 (GRCm39) G638E probably damaging Het
Ext2 A T 2: 93,643,929 (GRCm39) D117E probably benign Het
Fem1al A T 11: 29,773,593 (GRCm39) Y621* probably null Het
Ffar4 T A 19: 38,085,903 (GRCm39) V110D possibly damaging Het
Foxred2 G T 15: 77,839,850 (GRCm39) Q147K probably benign Het
Heatr9 T C 11: 83,409,651 (GRCm39) D107G probably benign Het
Hmgxb3 G A 18: 61,304,308 (GRCm39) A94V probably damaging Het
Htr5b A T 1: 121,455,774 (GRCm39) S49T possibly damaging Het
Il1rl1 A T 1: 40,500,997 (GRCm39) M458L probably benign Het
Il23r A T 6: 67,400,562 (GRCm39) N589K probably benign Het
Kbtbd11 G A 8: 15,078,801 (GRCm39) V467M probably damaging Het
Kidins220 T A 12: 25,054,110 (GRCm39) Y537N probably damaging Het
Kif27 T A 13: 58,473,812 (GRCm39) E728D probably damaging Het
Lum T C 10: 97,404,443 (GRCm39) S113P probably damaging Het
Mkln1 A G 6: 31,469,726 (GRCm39) probably benign Het
Mmp17 A G 5: 129,672,633 (GRCm39) D195G possibly damaging Het
Naa38 T A 11: 69,287,194 (GRCm39) probably benign Het
Naalad2 G A 9: 18,291,233 (GRCm39) A191V probably damaging Het
Naip6 A T 13: 100,435,933 (GRCm39) H863Q probably benign Het
Ncoa6 A G 2: 155,263,003 (GRCm39) V477A possibly damaging Het
Nipal3 G T 4: 135,201,728 (GRCm39) Y153* probably null Het
Or10s1 A T 9: 39,986,482 (GRCm39) N297I probably damaging Het
Or13d1 A G 4: 52,971,194 (GRCm39) D191G probably damaging Het
Or4c12 G T 2: 89,774,149 (GRCm39) H103Q probably damaging Het
Or4g16 G A 2: 111,137,143 (GRCm39) V198I probably benign Het
Or9s23 T A 1: 92,501,079 (GRCm39) L62Q probably damaging Het
Pik3c2a G A 7: 115,987,299 (GRCm39) P541S probably damaging Het
Ppargc1b A T 18: 61,443,506 (GRCm39) D552E probably damaging Het
Ppfia3 C A 7: 45,009,475 (GRCm39) probably benign Het
Prcp G A 7: 92,566,969 (GRCm39) S227N probably benign Het
Ptprq T A 10: 107,489,426 (GRCm39) T900S probably benign Het
Ralgapa2 G A 2: 146,190,360 (GRCm39) probably benign Het
Rcsd1 A G 1: 165,485,148 (GRCm39) S102P probably damaging Het
Rfwd3 T A 8: 111,999,707 (GRCm39) N757I possibly damaging Het
Rnf217 A T 10: 31,381,767 (GRCm39) probably null Het
Scn2a A G 2: 65,560,460 (GRCm39) D1230G probably damaging Het
Sdc3 T C 4: 130,545,886 (GRCm39) probably benign Het
Slc27a4 G T 2: 29,695,974 (GRCm39) D170Y probably benign Het
Tcof1 A G 18: 60,981,815 (GRCm39) probably benign Het
Ticam1 T A 17: 56,577,560 (GRCm39) I512F possibly damaging Het
Ticrr T C 7: 79,343,767 (GRCm39) C1211R probably benign Het
Tlr2 A T 3: 83,744,678 (GRCm39) N468K possibly damaging Het
Tmod4 T C 3: 95,036,424 (GRCm39) probably benign Het
Tnxb T C 17: 34,933,719 (GRCm39) S2380P probably benign Het
Top6bl T C 19: 4,713,612 (GRCm39) D276G probably damaging Het
Tox A G 4: 6,711,537 (GRCm39) V309A probably damaging Het
Trim43b A G 9: 88,973,683 (GRCm39) S17P probably benign Het
Ttc21a G T 9: 119,785,989 (GRCm39) L662F probably damaging Het
Ubqln1 A T 13: 58,339,951 (GRCm39) N261K probably damaging Het
Umodl1 T C 17: 31,205,091 (GRCm39) V562A probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vars1 T A 17: 35,220,478 (GRCm39) I20N probably damaging Het
Vcan T C 13: 89,832,612 (GRCm39) N3092D probably damaging Het
Zc3h6 G T 2: 128,839,605 (GRCm39) E139D probably benign Het
Other mutations in Tpgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02184:Tpgs2 APN 18 25,273,630 (GRCm39) missense probably damaging 1.00
IGL02234:Tpgs2 APN 18 25,282,301 (GRCm39) critical splice acceptor site probably null
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