Incidental Mutation 'R0723:Tmod2'
ID 63619
Institutional Source Beutler Lab
Gene Symbol Tmod2
Ensembl Gene ENSMUSG00000032186
Gene Name tropomodulin 2
Synonyms neural tropomodulin, N-Tmod, NTMOD
MMRRC Submission 038905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0723 (G1)
Quality Score 137
Status Validated
Chromosome 9
Chromosomal Location 75472903-75518607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75502337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 50 (F50S)
Ref Sequence ENSEMBL: ENSMUSP00000150645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064433] [ENSMUST00000098552] [ENSMUST00000164100] [ENSMUST00000213565] [ENSMUST00000215036] [ENSMUST00000215462] [ENSMUST00000215614] [ENSMUST00000217233]
AlphaFold Q9JKK7
Predicted Effect possibly damaging
Transcript: ENSMUST00000064433
AA Change: F50S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069956
Gene: ENSMUSG00000032186
AA Change: F50S

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: F50S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096152
Gene: ENSMUSG00000032186
AA Change: F50S

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: F50S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126739
Gene: ENSMUSG00000032186
AA Change: F50S

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: F50S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214581
Predicted Effect possibly damaging
Transcript: ENSMUST00000215036
AA Change: F50S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215462
AA Change: F50S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215614
AA Change: F50S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000217233
Meta Mutation Damage Score 0.1805 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 99% (69/70)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acbd5 T G 2: 22,959,608 (GRCm39) V54G probably damaging Het
Acin1 A T 14: 54,902,908 (GRCm39) S255T probably damaging Het
Adcy2 A G 13: 69,147,248 (GRCm39) L56P probably damaging Het
Akap6 G T 12: 53,188,685 (GRCm39) C2033F probably damaging Het
Ano5 A G 7: 51,237,506 (GRCm39) I777V probably benign Het
Arhgef28 A G 13: 98,075,987 (GRCm39) V1349A probably benign Het
Atosa G A 9: 74,916,733 (GRCm39) G444E probably damaging Het
Bank1 T C 3: 135,760,164 (GRCm39) probably null Het
C2cd5 T C 6: 142,987,281 (GRCm39) probably benign Het
Cadps2 A G 6: 23,287,697 (GRCm39) V1161A probably damaging Het
Car8 A T 4: 8,169,703 (GRCm39) D268E probably benign Het
Ciao3 G A 17: 26,000,795 (GRCm39) V406M probably damaging Het
Ckap5 T A 2: 91,385,676 (GRCm39) S175T probably damaging Het
Clk4 T A 11: 51,166,320 (GRCm39) Y67* probably null Het
Copg2 T C 6: 30,792,917 (GRCm39) I473V possibly damaging Het
Cstdc1 T C 2: 148,625,282 (GRCm39) I72T probably damaging Het
Cyp2s1 C T 7: 25,508,973 (GRCm39) V43I probably benign Het
Ddx54 A G 5: 120,761,703 (GRCm39) D493G probably benign Het
Efemp2 T C 19: 5,530,078 (GRCm39) S140P probably damaging Het
Fat1 C A 8: 45,479,786 (GRCm39) T2944K probably damaging Het
Fgfr1 T A 8: 26,047,784 (GRCm39) D43E probably damaging Het
Fry G A 5: 150,419,825 (GRCm39) A996T probably damaging Het
Fyb2 G A 4: 104,873,063 (GRCm39) V784I probably benign Het
Gm6507 T A 6: 89,162,144 (GRCm39) noncoding transcript Het
Gm7964 T C 7: 83,405,374 (GRCm39) noncoding transcript Het
Gucy2c T C 6: 136,704,799 (GRCm39) probably null Het
Hdac10 A T 15: 89,010,621 (GRCm39) L259Q probably damaging Het
Hoxd9 A T 2: 74,529,172 (GRCm39) D258V probably damaging Het
Hs3st3b1 T C 11: 63,812,401 (GRCm39) T105A probably benign Het
Hsd17b7 A G 1: 169,783,595 (GRCm39) L271P probably damaging Het
Ifnlr1 T A 4: 135,428,524 (GRCm39) probably benign Het
Kif22 A T 7: 126,633,078 (GRCm39) M121K probably damaging Het
Kl G A 5: 150,876,566 (GRCm39) D129N probably damaging Het
Mettl13 A T 1: 162,361,999 (GRCm39) I648N probably damaging Het
Mlh1 C T 9: 111,100,540 (GRCm39) R18H probably damaging Het
Mtmr14 T C 6: 113,247,473 (GRCm39) probably benign Het
Myo15a C A 11: 60,369,803 (GRCm39) N854K possibly damaging Het
Myo1h T C 5: 114,457,741 (GRCm39) I84T probably benign Het
Myo9a A T 9: 59,778,383 (GRCm39) S1380C probably benign Het
Myof A G 19: 37,969,708 (GRCm39) V318A probably damaging Het
N4bp2l2 A G 5: 150,585,897 (GRCm39) S28P probably damaging Het
Nbr1 C T 11: 101,467,145 (GRCm39) Q570* probably null Het
Nhp2 C T 11: 51,510,750 (GRCm39) Q36* probably null Het
Or1e17 T G 11: 73,831,096 (GRCm39) V8G probably benign Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Poc1b T A 10: 98,965,457 (GRCm39) W129R probably damaging Het
Potegl T C 2: 23,146,936 (GRCm39) probably benign Het
Rapgef2 C T 3: 78,986,481 (GRCm39) E1018K probably benign Het
Rgs12 T C 5: 35,181,710 (GRCm39) probably benign Het
Rufy2 G A 10: 62,833,873 (GRCm39) V280I probably benign Het
Snx2 A G 18: 53,343,444 (GRCm39) I281V probably benign Het
Spag5 C A 11: 78,210,410 (GRCm39) probably benign Het
Spata31g1 T A 4: 42,971,691 (GRCm39) N341K probably damaging Het
Stxbp5 A T 10: 9,644,617 (GRCm39) I961N probably damaging Het
Tet2 T C 3: 133,173,045 (GRCm39) E1739G probably benign Het
Tnfsf13b T G 8: 10,057,166 (GRCm39) probably null Het
Ttn T C 2: 76,616,679 (GRCm39) K16525E possibly damaging Het
Txnrd2 T C 16: 18,259,629 (GRCm39) probably benign Het
Ubr1 A T 2: 120,711,582 (GRCm39) Y1437* probably null Het
Vwf C A 6: 125,543,225 (GRCm39) D170E probably benign Het
Wdr95 C G 5: 149,497,513 (GRCm39) I230M probably damaging Het
Xirp2 C T 2: 67,342,559 (GRCm39) S1600F probably damaging Het
Zfp12 A G 5: 143,230,638 (GRCm39) K322E probably 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
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'- TCCACAATGTGTGAAGGGCATTCTG -3'
(R):5'- TCCAAAGCTGATACTTCTGTCGCTG -3'

Sequencing Primer
(F):5'- TGAAGGGCATTCTGTCCCAG -3'
(R):5'- GGGTTCCCTTCCTTAGCAAAG -3'
Posted On 2013-07-30