Incidental Mutation 'R2248:Tmod2'
ID 240957
Institutional Source Beutler Lab
Gene Symbol Tmod2
Ensembl Gene ENSMUSG00000032186
Gene Name tropomodulin 2
Synonyms neural tropomodulin, N-Tmod, NTMOD
MMRRC Submission 040248-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2248 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 75472903-75518607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75499931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 107 (T107N)
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 probably benign
Transcript: ENSMUST00000064433
AA Change: T107N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000069956
Gene: ENSMUSG00000032186
AA Change: T107N

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: T107N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000096152
Gene: ENSMUSG00000032186
AA Change: T107N

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: T107N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126739
Gene: ENSMUSG00000032186
AA Change: T107N

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: T107N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214581
Predicted Effect probably benign
Transcript: ENSMUST00000215036
AA Change: T107N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000215462
AA Change: T107N

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000215614
AA Change: T107N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000217233
Meta Mutation Damage Score 0.0919 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,323,476 (GRCm39) probably benign Het
Afp A G 5: 90,649,429 (GRCm39) D332G probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aldh1a2 A T 9: 71,123,144 (GRCm39) I6F possibly damaging Het
Alg6 C T 4: 99,626,444 (GRCm39) A84V probably damaging Het
Ank T A 15: 27,562,797 (GRCm39) probably null Het
Ano5 A T 7: 51,243,537 (GRCm39) M837L probably benign Het
Arl8b A G 6: 108,760,304 (GRCm39) Y30C probably benign Het
Bfsp1 A T 2: 143,669,572 (GRCm39) probably null Het
Cdhr1 C G 14: 36,803,334 (GRCm39) V581L probably benign Het
Chst8 G T 7: 34,447,597 (GRCm39) T7K probably damaging Het
Clca3b T C 3: 144,530,980 (GRCm39) K790R probably benign Het
Clta A G 4: 44,012,852 (GRCm39) N21D probably damaging Het
Col6a4 T G 9: 105,957,158 (GRCm39) E222A probably benign Het
Dcc G T 18: 71,959,239 (GRCm39) Q178K probably benign Het
Dpysl3 T C 18: 43,491,358 (GRCm39) D140G possibly damaging Het
Dthd1 A T 5: 63,007,243 (GRCm39) D648V probably damaging Het
Eva1c A G 16: 90,628,213 (GRCm39) N18S probably benign Het
Flnc A G 6: 29,451,400 (GRCm39) H1538R probably damaging Het
Foxn3 T C 12: 99,162,815 (GRCm39) E362G probably benign Het
Frk C A 10: 34,484,527 (GRCm39) T500K probably benign Het
Glipr1l1 A G 10: 111,898,192 (GRCm39) E99G probably benign Het
Gphn T C 12: 78,501,595 (GRCm39) L120P probably damaging Het
Gpr152 T C 19: 4,193,805 (GRCm39) S449P probably benign Het
Greb1 T A 12: 16,730,379 (GRCm39) I1655F possibly damaging Het
Hectd1 G T 12: 51,853,254 (GRCm39) T89N probably damaging Het
Helz2 A C 2: 180,875,226 (GRCm39) I1756S probably benign Het
Hydin G T 8: 111,304,835 (GRCm39) R3825L probably benign Het
Ifi207 G A 1: 173,564,036 (GRCm39) probably benign Het
Itpr3 A T 17: 27,334,033 (GRCm39) E2035V probably damaging Het
Khnyn T A 14: 56,124,195 (GRCm39) S150T probably benign Het
Kif21b T C 1: 136,100,704 (GRCm39) I1595T probably damaging Het
Lgsn A T 1: 31,242,607 (GRCm39) T230S possibly damaging Het
Limch1 G T 5: 67,201,742 (GRCm39) G838V probably damaging Het
Lrp2 T A 2: 69,341,354 (GRCm39) D942V probably damaging Het
Lrrc31 T A 3: 30,744,050 (GRCm39) T153S possibly damaging Het
Mal2 T A 15: 54,451,732 (GRCm39) I51N probably damaging Het
Matcap2 A G 9: 22,355,410 (GRCm39) T482A probably benign Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mycbp2 T A 14: 103,407,295 (GRCm39) Q385L possibly damaging Het
Nav3 T A 10: 109,532,088 (GRCm39) D2117V probably damaging Het
Ntn1 T C 11: 68,168,398 (GRCm39) N353S possibly damaging Het
Oas1c T C 5: 120,940,926 (GRCm39) E289G possibly damaging Het
Or2m13 A G 16: 19,225,944 (GRCm39) V274A probably damaging Het
Or4a81 C A 2: 89,619,524 (GRCm39) M57I possibly damaging Het
Or5w17 T C 2: 87,584,287 (GRCm39) I17V probably null Het
Plk1 A G 7: 121,768,044 (GRCm39) probably benign Het
Pms2 G A 5: 143,853,324 (GRCm39) V230M probably damaging Het
Pole3 C A 4: 62,443,250 (GRCm39) probably benign Het
Ppp2r5c T C 12: 110,452,357 (GRCm39) F22S probably benign Het
Prp2rt C A 13: 97,235,406 (GRCm39) V114F possibly damaging Het
Ptcd3 A T 6: 71,871,269 (GRCm39) probably null Het
Ptprq A T 10: 107,478,931 (GRCm39) probably null Het
Rab18 T A 18: 6,788,629 (GRCm39) C199S probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Sacs A G 14: 61,450,251 (GRCm39) N4099S probably damaging Het
Sh3yl1 T A 12: 30,992,869 (GRCm39) probably null Het
Slco1c1 T A 6: 141,492,415 (GRCm39) I217N probably damaging Het
Syne2 C T 12: 76,143,678 (GRCm39) T6241I probably damaging Het
Tas2r119 T C 15: 32,178,297 (GRCm39) F288L possibly damaging Het
Trappc6b T C 12: 59,097,167 (GRCm39) T52A probably damaging Het
Tsen54 A G 11: 115,706,232 (GRCm39) E122G probably damaging Het
Tspear A G 10: 77,709,103 (GRCm39) N443S probably damaging Het
Unc80 A G 1: 66,662,365 (GRCm39) probably benign Het
Virma T A 4: 11,518,927 (GRCm39) Y725N probably damaging Het
Vwa7 G A 17: 35,238,019 (GRCm39) D207N 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
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
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'- GGCTCCAGTCTGATAGGTAGATAG -3'
(R):5'- TAGCCCCATCAGATGACAGG -3'

Sequencing Primer
(F):5'- TGGGCACACAGTATTCAATAGC -3'
(R):5'- GAAACAGCTCAATGGCGTGTGTC -3'
Posted On 2014-10-15