Incidental Mutation 'R4522:Tmod2'
ID 334270
Institutional Source Beutler Lab
Gene Symbol Tmod2
Ensembl Gene ENSMUSG00000032186
Gene Name tropomodulin 2
Synonyms neural tropomodulin, N-Tmod, NTMOD
MMRRC Submission 041765-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4522 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 75472903-75518607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75499866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 129 (T129A)
Ref Sequence ENSEMBL: ENSMUSP00000149584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064433] [ENSMUST00000098552] [ENSMUST00000164100] [ENSMUST00000213565] [ENSMUST00000215036] [ENSMUST00000215462] [ENSMUST00000215614] [ENSMUST00000217233]
AlphaFold Q9JKK7
Predicted Effect probably benign
Transcript: ENSMUST00000064433
AA Change: T129A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000069956
Gene: ENSMUSG00000032186
AA Change: T129A

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 probably benign
Transcript: ENSMUST00000098552
AA Change: T129A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096152
Gene: ENSMUSG00000032186
AA Change: T129A

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 probably benign
Transcript: ENSMUST00000164100
AA Change: T129A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126739
Gene: ENSMUSG00000032186
AA Change: T129A

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 probably benign
Transcript: ENSMUST00000213565
AA Change: T129A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214581
Predicted Effect probably benign
Transcript: ENSMUST00000215036
AA Change: T129A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215462
AA Change: T129A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000215614
AA Change: T129A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000217233
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Babam2 G A 5: 32,164,586 (GRCm39) V287M probably damaging Het
Brip1 T C 11: 86,080,627 (GRCm39) I146M possibly damaging Het
Cacna1b C T 2: 24,544,442 (GRCm39) R1248H probably damaging Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cfap47 A T X: 78,553,601 (GRCm39) N291K possibly damaging Het
Chaf1b G A 16: 93,698,183 (GRCm39) A485T probably benign Het
Dock7 T C 4: 98,850,461 (GRCm39) R1594G probably damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Gm3739 T A 14: 18,505,267 (GRCm39) K86* probably null Het
Mark2 A T 19: 7,263,313 (GRCm39) D151E probably damaging Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Nwd1 A T 8: 73,397,579 (GRCm39) D606V probably damaging Het
Or8w1 T A 2: 87,465,495 (GRCm39) I199L probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcbp1 T C 6: 86,502,032 (GRCm39) N289S probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Ptpn18 T C 1: 34,512,041 (GRCm39) L55P probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec23b T A 2: 144,420,286 (GRCm39) I450N possibly damaging Het
Speg A G 1: 75,404,974 (GRCm39) E2922G probably damaging Het
Spem1 C A 11: 69,712,631 (GRCm39) probably null Het
Stxbp3-ps A T 19: 9,536,474 (GRCm39) noncoding transcript Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Ttc28 A G 5: 111,428,038 (GRCm39) T1845A probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Ush2a C T 1: 188,596,822 (GRCm39) T3854M probably damaging Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V probably damaging Het
Zfp105 T A 9: 122,759,121 (GRCm39) V264E possibly damaging Het
Other mutations in Tmod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Tmod2 APN 9 75,502,283 (GRCm39) missense probably benign 0.00
IGL02732:Tmod2 APN 9 75,493,454 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AATGGGCTAAAACATGGCTTG -3'
(R):5'- GGCGTGTGTCTTAATGCCAG -3'

Sequencing Primer
(F):5'- ATGGCTTGCTCAACCATAGG -3'
(R):5'- GTCTTAATGCCAGCGTTGC -3'
Posted On 2015-08-18