Incidental Mutation 'IGL02732:Tmod2'
ID 305523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmod2
Ensembl Gene ENSMUSG00000032186
Gene Name tropomodulin 2
Synonyms neural tropomodulin, N-Tmod, NTMOD
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02732
Quality Score
Status
Chromosome 9
Chromosomal Location 75472903-75518607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75493454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 167 (V167A)
Ref Sequence ENSEMBL: ENSMUSP00000150645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064433] [ENSMUST00000098552] [ENSMUST00000164100] [ENSMUST00000215036] [ENSMUST00000215462] [ENSMUST00000215614]
AlphaFold Q9JKK7
Predicted Effect possibly damaging
Transcript: ENSMUST00000064433
AA Change: V167A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069956
Gene: ENSMUSG00000032186
AA Change: V167A

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 147 1.7e-68 PFAM
PDB:1IO0|A 163 346 1e-80 PDB
SCOP:d1yrga_ 194 291 4e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000098552
AA Change: V167A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096152
Gene: ENSMUSG00000032186
AA Change: V167A

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 147 1.7e-68 PFAM
PDB:1IO0|A 163 346 1e-80 PDB
SCOP:d1yrga_ 194 291 4e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000164100
AA Change: V167A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126739
Gene: ENSMUSG00000032186
AA Change: V167A

DomainStartEndE-ValueType
Pfam:Tropomodulin 5 146 6.3e-59 PFAM
PDB:1IO0|A 163 346 1e-80 PDB
SCOP:d1yrga_ 194 291 4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214581
Predicted Effect possibly damaging
Transcript: ENSMUST00000215036
AA Change: V167A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215462
AA Change: V167A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215614
AA Change: V167A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
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 neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in enhanced LTP, hyperactivity, impaired startle response, and impaired learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoo-ps C A 13: 107,551,123 (GRCm39) noncoding transcript Het
Ash1l T A 3: 88,873,535 (GRCm39) V106E probably damaging Het
Baz2a A G 10: 127,961,044 (GRCm39) T1618A possibly damaging Het
Brca1 A G 11: 101,383,045 (GRCm39) S1732P probably benign Het
Cdh1 T A 8: 107,392,955 (GRCm39) I813N probably damaging Het
Cdk5rap2 G A 4: 70,184,902 (GRCm39) R1183* probably null Het
Cep170 C T 1: 176,564,440 (GRCm39) E1479K probably damaging Het
Cep68 A T 11: 20,186,109 (GRCm39) probably benign Het
Cog7 C T 7: 121,522,590 (GRCm39) V750I probably benign Het
Cplane1 A G 15: 8,209,375 (GRCm39) T271A probably benign Het
Cyb5d1 A C 11: 69,284,635 (GRCm39) probably null Het
Dlgap4 A G 2: 156,591,243 (GRCm39) K120E probably benign Het
Dmtf1 T C 5: 9,186,098 (GRCm39) I75V possibly damaging Het
Fnip2 T C 3: 79,373,004 (GRCm39) T995A probably damaging Het
Hecw2 G A 1: 53,965,847 (GRCm39) probably benign Het
Il17rd T A 14: 26,809,376 (GRCm39) F111I probably damaging Het
Itgb8 A C 12: 119,127,088 (GRCm39) M722R probably benign Het
Maip1 A G 1: 57,449,114 (GRCm39) D165G probably damaging Het
Mcm6 A T 1: 128,287,227 (GRCm39) C26S probably benign Het
Mdp1 T C 14: 55,896,678 (GRCm39) I128V possibly damaging Het
Myof A T 19: 37,966,164 (GRCm39) F385L possibly damaging Het
Nebl C T 2: 17,457,295 (GRCm39) probably benign Het
Nusap1 A G 2: 119,466,061 (GRCm39) E227G probably damaging Het
Or4b13 A G 2: 90,082,652 (GRCm39) S227P probably damaging Het
Or51m1 T G 7: 103,578,336 (GRCm39) M102R probably damaging Het
Or52e3 A C 7: 102,869,447 (GRCm39) N174T probably benign Het
Pamr1 A T 2: 102,472,486 (GRCm39) H595L probably benign Het
Pate5 C T 9: 35,750,345 (GRCm39) G109D probably damaging Het
Pdgfc G A 3: 80,944,864 (GRCm39) probably benign Het
Pierce1 T C 2: 28,355,192 (GRCm39) N91S probably damaging Het
Ptpn22 A T 3: 103,793,349 (GRCm39) E500V probably damaging Het
Ptprg G T 14: 12,225,617 (GRCm38) probably null Het
R3hdm2 T C 10: 127,319,929 (GRCm39) F513L probably benign Het
Ramac T C 7: 81,417,473 (GRCm39) probably null Het
Rhobtb3 C A 13: 76,059,056 (GRCm39) L247F probably damaging Het
Scfd1 T C 12: 51,469,756 (GRCm39) S434P probably benign Het
Serpinb3d T A 1: 107,010,526 (GRCm39) probably null Het
Sin3b T C 8: 73,460,081 (GRCm39) F223L possibly damaging Het
Slc9c1 T C 16: 45,370,548 (GRCm39) V263A possibly damaging Het
Sntb1 A G 15: 55,655,596 (GRCm39) S207P possibly damaging Het
Sqor A T 2: 122,641,682 (GRCm39) T1S possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,328,602 (GRCm39) probably null Het
Tasor2 A G 13: 3,623,626 (GRCm39) V2108A probably benign Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Trdn G A 10: 33,344,195 (GRCm39) probably null Het
Trim5 T A 7: 103,927,672 (GRCm39) E156V probably benign Het
Twf1 A G 15: 94,478,890 (GRCm39) S273P probably damaging Het
Xylt1 T C 7: 117,191,164 (GRCm39) V320A possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Tmod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Tmod2 APN 9 75,502,283 (GRCm39) missense probably benign 0.00
IGL03255:Tmod2 APN 9 75,484,540 (GRCm39) splice site probably benign
PIT4581001:Tmod2 UTSW 9 75,504,583 (GRCm39) missense probably damaging 1.00
R0589:Tmod2 UTSW 9 75,484,041 (GRCm39) missense probably damaging 1.00
R0723:Tmod2 UTSW 9 75,502,337 (GRCm39) missense possibly damaging 0.93
R1721:Tmod2 UTSW 9 75,493,324 (GRCm39) splice site probably benign
R2056:Tmod2 UTSW 9 75,484,524 (GRCm39) missense probably benign 0.00
R2119:Tmod2 UTSW 9 75,493,377 (GRCm39) missense possibly damaging 0.46
R2248:Tmod2 UTSW 9 75,499,931 (GRCm39) missense probably benign 0.03
R4522:Tmod2 UTSW 9 75,499,866 (GRCm39) missense probably benign 0.10
R4755:Tmod2 UTSW 9 75,504,494 (GRCm39) nonsense probably null
R7149:Tmod2 UTSW 9 75,489,167 (GRCm39) missense possibly damaging 0.52
R7363:Tmod2 UTSW 9 75,484,023 (GRCm39) missense probably damaging 0.99
R9182:Tmod2 UTSW 9 75,504,624 (GRCm39) start gained probably benign
Posted On 2015-04-16