Incidental Mutation 'R7149:Tmod2'
ID 554003
Institutional Source Beutler Lab
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 # R7149 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 75472903-75518607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75489167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 226 (T226I)
Ref Sequence ENSEMBL: ENSMUSP00000069956 (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: T226I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069956
Gene: ENSMUSG00000032186
AA Change: T226I

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: T226I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096152
Gene: ENSMUSG00000032186
AA Change: T226I

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: T226I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126739
Gene: ENSMUSG00000032186
AA Change: T226I

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 possibly damaging
Transcript: ENSMUST00000215036
AA Change: T226I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215462
AA Change: T226I

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215614
AA Change: T226I

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,375,451 (GRCm39) F790V probably damaging Het
Atf4 AAGCGGGCTGAGC AAGC 15: 80,141,500 (GRCm39) probably benign Het
Brd8 C T 18: 34,737,650 (GRCm39) probably null Het
Bsn A T 9: 107,993,520 (GRCm39) L744* probably null Het
Capn9 A G 8: 125,332,448 (GRCm39) D429G probably benign Het
CK137956 A T 4: 127,864,626 (GRCm39) M1K probably null Het
Cnot6 G A 11: 49,570,970 (GRCm39) P341S probably benign Het
Cracdl G A 1: 37,651,352 (GRCm39) Q1172* probably null Het
Dld T G 12: 31,385,589 (GRCm39) I251L probably benign Het
Dlg5 T C 14: 24,240,492 (GRCm39) K253R probably benign Het
Dnmt3a C T 12: 3,952,397 (GRCm39) P696L probably damaging Het
Dph1 T C 11: 75,070,001 (GRCm39) K409E probably benign Het
Dsg2 T C 18: 20,712,511 (GRCm39) S172P probably damaging Het
Gm1979 T C 5: 26,206,945 (GRCm39) N136S probably benign Het
Gm2663 A T 6: 40,974,891 (GRCm39) L60Q probably damaging Het
Hdac10 A G 15: 89,011,652 (GRCm39) F144S probably damaging Het
Ifi203 T C 1: 173,756,494 (GRCm39) T430A unknown Het
Itgb2l T C 16: 96,234,759 (GRCm39) D244G probably damaging Het
Klk1b9 A T 7: 43,628,841 (GRCm39) Y115F probably benign Het
Llcfc1 C A 6: 41,662,251 (GRCm39) A85E possibly damaging Het
Lrp1b C T 2: 40,527,872 (GRCm39) V4330M Het
Map3k13 A G 16: 21,744,187 (GRCm39) E811G probably benign Het
Myl6b A G 10: 128,333,068 (GRCm39) probably null Het
Myo15a G A 11: 60,400,836 (GRCm39) A2997T possibly damaging Het
Nalcn T C 14: 123,837,277 (GRCm39) D29G probably benign Het
Nepro T A 16: 44,550,078 (GRCm39) probably null Het
Nlrp1b T A 11: 71,072,482 (GRCm39) R454* probably null Het
Nlrp4a T C 7: 26,149,863 (GRCm39) V490A probably benign Het
Or1e1f G A 11: 73,856,257 (GRCm39) M274I probably benign Het
Or2l13 T C 16: 19,306,260 (GRCm39) V224A probably damaging Het
Pde8b T G 13: 95,223,349 (GRCm39) M197L probably benign Het
Phldb2 T A 16: 45,571,895 (GRCm39) K1166* probably null Het
Plekhm1 A G 11: 103,285,742 (GRCm39) I231T probably damaging Het
Ppp6r2 T C 15: 89,146,599 (GRCm39) I199T probably damaging Het
Ptch1 G T 13: 63,659,550 (GRCm39) H1368N probably benign Het
Ptprj T A 2: 90,274,790 (GRCm39) T1191S possibly damaging Het
Rapgef1 T C 2: 29,610,712 (GRCm39) S748P probably damaging Het
Rigi T C 4: 40,222,079 (GRCm39) D445G possibly damaging Het
Rnmt T C 18: 68,452,222 (GRCm39) S420P probably damaging Het
Sgms2 A G 3: 131,129,908 (GRCm39) F160S possibly damaging Het
Sim1 G T 10: 50,785,636 (GRCm39) R235L probably damaging Het
Slco1a7 A G 6: 141,690,178 (GRCm39) S192P probably damaging Het
Smarcad1 T A 6: 65,029,716 (GRCm39) D101E probably benign Het
Smarcc2 G A 10: 128,318,598 (GRCm39) V627M probably damaging Het
Supt20 G A 3: 54,635,832 (GRCm39) R241H unknown Het
Tagln2 T A 1: 172,333,386 (GRCm39) I80N probably damaging Het
Vmn2r80 A T 10: 79,030,654 (GRCm39) I827F probably benign Het
Vmn2r96 T A 17: 18,817,989 (GRCm39) M714K possibly damaging Het
Vps8 C A 16: 21,278,526 (GRCm39) D261E probably damaging Het
Yeats2 C A 16: 19,972,939 (GRCm39) A31E probably damaging Het
Zfp451 C T 1: 33,816,405 (GRCm39) R515Q probably damaging Het
Zfp553 A G 7: 126,835,605 (GRCm39) S387G 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
R4522:Tmod2 UTSW 9 75,499,866 (GRCm39) missense probably benign 0.10
R4755:Tmod2 UTSW 9 75,504,494 (GRCm39) nonsense probably null
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'- GTTCTTAGCCTGTGCCTCAG -3'
(R):5'- CAGGTTATAGTCAAAAGTTGCAGGG -3'

Sequencing Primer
(F):5'- TGCCTCAGGACCGTAAATTTG -3'
(R):5'- TCAAAAGTTGCAGGGGGCTTG -3'
Posted On 2019-05-15