Incidental Mutation 'R0589:Tmod2'
ID 218423
Institutional Source Beutler Lab
Gene Symbol Tmod2
Ensembl Gene ENSMUSG00000032186
Gene Name tropomodulin 2
Synonyms neural tropomodulin, N-Tmod, NTMOD
MMRRC Submission 038779-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0589 (G1)
Quality Score 57
Status Validated
Chromosome 9
Chromosomal Location 75472903-75518607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75484041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 303 (E303G)
Ref Sequence ENSEMBL: ENSMUSP00000150413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064433] [ENSMUST00000098552] [ENSMUST00000164100] [ENSMUST00000215036] [ENSMUST00000215462] [ENSMUST00000215614]
AlphaFold Q9JKK7
Predicted Effect probably damaging
Transcript: ENSMUST00000064433
AA Change: E303G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069956
Gene: ENSMUSG00000032186
AA Change: E303G

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 damaging
Transcript: ENSMUST00000098552
AA Change: E303G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096152
Gene: ENSMUSG00000032186
AA Change: E303G

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 damaging
Transcript: ENSMUST00000164100
AA Change: E303G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126739
Gene: ENSMUSG00000032186
AA Change: E303G

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 damaging
Transcript: ENSMUST00000215036
AA Change: E303G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000215462
Predicted Effect probably damaging
Transcript: ENSMUST00000215614
AA Change: E303G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.8643 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.1%
Validation Efficiency 98% (62/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,833,094 (GRCm39) A1202E probably damaging Het
Abcc12 A T 8: 87,287,101 (GRCm39) I155N possibly damaging Het
Atf4 T A 15: 80,140,640 (GRCm39) H47Q probably damaging Het
Atm T A 9: 53,401,492 (GRCm39) D1459V possibly damaging Het
Bicral A G 17: 47,112,522 (GRCm39) S893P probably benign Het
Camk2a G A 18: 61,097,036 (GRCm39) probably null Het
Cebpz G A 17: 79,244,308 (GRCm39) T51I probably damaging Het
Cers5 A T 15: 99,638,837 (GRCm39) D208E probably damaging Het
Cimip2b T C 4: 43,427,355 (GRCm39) probably benign Het
Cyp1a2 T C 9: 57,586,345 (GRCm39) D391G possibly damaging Het
Dct G T 14: 118,280,682 (GRCm39) F111L probably benign Het
Ddb1 T G 19: 10,599,080 (GRCm39) I529S probably benign Het
Dhx9 G T 1: 153,348,037 (GRCm39) Q361K probably damaging Het
Dnai3 A G 3: 145,768,086 (GRCm39) S592P probably benign Het
Erbin G T 13: 104,022,795 (GRCm39) R15S probably damaging Het
F13b T C 1: 139,434,671 (GRCm39) S146P possibly damaging Het
Ggnbp2 A T 11: 84,727,277 (GRCm39) C520S probably damaging Het
Gpx3 A G 11: 54,800,329 (GRCm39) I208V probably benign Het
Grk3 A G 5: 113,076,629 (GRCm39) probably benign Het
Heatr9 T C 11: 83,405,516 (GRCm39) probably benign Het
Heg1 T G 16: 33,552,077 (GRCm39) I762R probably damaging Het
Ints11 A T 4: 155,971,343 (GRCm39) T264S probably damaging Het
Ints14 T C 9: 64,887,113 (GRCm39) L348P probably damaging Het
Maco1 C A 4: 134,555,528 (GRCm39) C315F probably benign Het
Marf1 C A 16: 13,959,919 (GRCm39) probably benign Het
Med13 A G 11: 86,174,075 (GRCm39) Y1808H probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrpl45 A T 11: 97,214,714 (GRCm39) T134S probably benign Het
Myh8 A G 11: 67,189,453 (GRCm39) I1210V probably benign Het
Nsd3 T C 8: 26,131,303 (GRCm39) S223P probably damaging Het
Or2j6 T G 7: 139,980,813 (GRCm39) S49R possibly damaging Het
Or4c115 A G 2: 88,927,606 (GRCm39) F222L probably benign Het
Or5be3 A T 2: 86,864,459 (GRCm39) Y35* probably null Het
P3h3 T A 6: 124,818,644 (GRCm39) E731D probably damaging Het
Pcdhac2 A G 18: 37,279,527 (GRCm39) R836G probably benign Het
Pdzd2 A G 15: 12,376,385 (GRCm39) V1250A probably benign Het
Pgbd1 G A 13: 21,618,600 (GRCm39) T19I possibly damaging Het
Phtf2 T A 5: 21,018,249 (GRCm39) R31* probably null Het
Plod2 T A 9: 92,475,799 (GRCm39) V294D probably benign Het
Rassf5 C T 1: 131,172,720 (GRCm39) G50R probably damaging Het
Rexo5 A G 7: 119,444,606 (GRCm39) T694A probably benign Het
Rtcb A C 10: 85,787,315 (GRCm39) S82A probably damaging Het
Rufy4 T C 1: 74,172,042 (GRCm39) L255P probably damaging Het
Slc35c1 A G 2: 92,284,859 (GRCm39) F252L probably damaging Het
Slco6d1 A T 1: 98,427,472 (GRCm39) probably benign Het
Sox10 T G 15: 79,047,485 (GRCm39) probably benign Het
Stard9 A G 2: 120,529,028 (GRCm39) M1762V probably benign Het
Stat3 A T 11: 100,798,909 (GRCm39) Y94N probably damaging Het
Tasor T C 14: 27,183,107 (GRCm39) I522T probably benign Het
Tecta T A 9: 42,256,930 (GRCm39) Y1582F probably benign Het
Tex44 A G 1: 86,355,453 (GRCm39) D454G probably damaging Het
Tle6 A G 10: 81,431,253 (GRCm39) probably benign Het
Trem1 A G 17: 48,544,245 (GRCm39) D90G possibly damaging Het
Trhde A T 10: 114,284,229 (GRCm39) D751E probably benign Het
Ttn A T 2: 76,795,589 (GRCm39) probably null Het
Vars2 T C 17: 35,970,068 (GRCm39) T774A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CACTGCCTCTGAAGTGGGAAGATG -3'
(R):5'- GGCCAAAGCTCAAAGCTCTCTGTG -3'

Sequencing Primer
(F):5'- GATGAATTGTCCTACTTGTCACCAG -3'
(R):5'- cctctgtctctctctgtctctc -3'
Posted On 2014-08-07