Incidental Mutation 'IGL02732:Tmod2'
ID305523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmod2
Ensembl Gene ENSMUSG00000032186
Gene Nametropomodulin 2
SynonymsNTMOD, neural tropomodulin, N-Tmod
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02732
Quality Score
Status
Chromosome9
Chromosomal Location75565621-75611325 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75586172 bp
ZygosityHeterozygous
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]
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
1700007K13Rik T C 2: 28,465,180 N91S probably damaging Het
2410089E03Rik A G 15: 8,179,891 T271A probably benign Het
9230110F15Rik C T 9: 35,839,049 G109D probably damaging Het
Apoo-ps C A 13: 107,414,623 noncoding transcript Het
Ash1l T A 3: 88,966,228 V106E probably damaging Het
Baz2a A G 10: 128,125,175 T1618A possibly damaging Het
Brca1 A G 11: 101,492,219 S1732P probably benign Het
Cdh1 T A 8: 106,666,323 I813N probably damaging Het
Cdk5rap2 G A 4: 70,266,665 R1183* probably null Het
Cep170 C T 1: 176,736,874 E1479K probably damaging Het
Cep68 A T 11: 20,236,109 probably benign Het
Cog7 C T 7: 121,923,367 V750I probably benign Het
Cyb5d1 A C 11: 69,393,809 probably null Het
Dlgap4 A G 2: 156,749,323 K120E probably benign Het
Dmtf1 T C 5: 9,136,098 I75V possibly damaging Het
Fam103a1 T C 7: 81,767,725 probably null Het
Fam208b A G 13: 3,573,626 V2108A probably benign Het
Fnip2 T C 3: 79,465,697 T995A probably damaging Het
Hecw2 G A 1: 53,926,688 probably benign Het
Il17rd T A 14: 27,087,419 F111I probably damaging Het
Itgb8 A C 12: 119,163,353 M722R probably benign Het
Maip1 A G 1: 57,409,955 D165G probably damaging Het
Mcm6 A T 1: 128,359,490 C26S probably benign Het
Mdp1 T C 14: 55,659,221 I128V possibly damaging Het
Myof A T 19: 37,977,716 F385L possibly damaging Het
Nebl C T 2: 17,452,484 probably benign Het
Nusap1 A G 2: 119,635,580 E227G probably damaging Het
Olfr142 A G 2: 90,252,308 S227P probably damaging Het
Olfr594 A C 7: 103,220,240 N174T probably benign Het
Olfr631 T G 7: 103,929,129 M102R probably damaging Het
Pamr1 A T 2: 102,642,141 H595L probably benign Het
Pdgfc G A 3: 81,037,557 probably benign Het
Ptpn22 A T 3: 103,886,033 E500V probably damaging Het
Ptprg G T 14: 12,225,617 probably null Het
R3hdm2 T C 10: 127,484,060 F513L probably benign Het
Rhobtb3 C A 13: 75,910,937 L247F probably damaging Het
Scfd1 T C 12: 51,422,973 S434P probably benign Het
Serpinb3d T A 1: 107,082,796 probably null Het
Sin3b T C 8: 72,733,453 F223L possibly damaging Het
Slc9c1 T C 16: 45,550,185 V263A possibly damaging Het
Sntb1 A G 15: 55,792,200 S207P possibly damaging Het
Sqor A T 2: 122,799,762 T1S possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,437,776 probably null Het
Trak2 G A 1: 58,910,063 T526M probably benign Het
Trdn G A 10: 33,468,199 probably null Het
Trim5 T A 7: 104,278,465 E156V probably benign Het
Twf1 A G 15: 94,581,009 S273P probably damaging Het
Xylt1 T C 7: 117,591,937 V320A possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Tmod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Tmod2 APN 9 75595001 missense probably benign 0.00
IGL03255:Tmod2 APN 9 75577258 splice site probably benign
PIT4581001:Tmod2 UTSW 9 75597301 missense probably damaging 1.00
R0589:Tmod2 UTSW 9 75576759 missense probably damaging 1.00
R0723:Tmod2 UTSW 9 75595055 missense possibly damaging 0.93
R1721:Tmod2 UTSW 9 75586042 splice site probably benign
R2056:Tmod2 UTSW 9 75577242 missense probably benign 0.00
R2119:Tmod2 UTSW 9 75586095 missense possibly damaging 0.46
R2248:Tmod2 UTSW 9 75592649 missense probably benign 0.03
R4522:Tmod2 UTSW 9 75592584 missense probably benign 0.10
R4755:Tmod2 UTSW 9 75597212 nonsense probably null
R7149:Tmod2 UTSW 9 75581885 missense possibly damaging 0.52
R7363:Tmod2 UTSW 9 75576741 missense probably damaging 0.99
Posted On2015-04-16