Incidental Mutation 'IGL03145:Tpm2'
ID 410871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpm2
Ensembl Gene ENSMUSG00000028464
Gene Name tropomyosin 2, beta
Synonyms Tpm-2, Trop-2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # IGL03145
Quality Score
Status
Chromosome 4
Chromosomal Location 43514711-43523765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43519447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 145 (E145G)
Ref Sequence ENSEMBL: ENSMUSP00000030184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030184] [ENSMUST00000107913] [ENSMUST00000107914] [ENSMUST00000150592]
AlphaFold P58774
Predicted Effect probably damaging
Transcript: ENSMUST00000030184
AA Change: E145G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464
AA Change: E145G

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 3.3e-39 PFAM
Pfam:Tropomyosin 48 284 1.5e-97 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107913
AA Change: E145G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464
AA Change: E145G

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 6.5e-36 PFAM
Pfam:Tropomyosin 48 284 4.8e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107914
AA Change: E145G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464
AA Change: E145G

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 7.2e-39 PFAM
Pfam:Tropomyosin 48 284 6.3e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150262
Predicted Effect probably benign
Transcript: ENSMUST00000150592
SMART Domains Protein: ENSMUSP00000119908
Gene: ENSMUSG00000028464

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 106 2.2e-26 PFAM
Pfam:Tropomyosin 48 106 1.1e-18 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the tropomyosin family which encodes proteins that bind to actin filaments and stabilize them by regulating access to actin modifying proteins. The encoded protein is a high molecular weight tropomyosin expressed in slow skeletal muscle. In humans, mutations in this gene are associated with nemaline myopathy, cap disease and distal arthrogryposis syndromes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Adam39 C T 8: 41,277,695 (GRCm39) P29S probably benign Het
Afap1l1 T C 18: 61,874,880 (GRCm39) K434E possibly damaging Het
Akap7 T C 10: 25,115,565 (GRCm39) T187A probably damaging Het
Atp7b A C 8: 22,508,159 (GRCm39) I479S probably damaging Het
Cdh23 T A 10: 60,212,593 (GRCm39) E1606V probably damaging Het
Cnga3 A G 1: 37,300,755 (GRCm39) S530G probably damaging Het
Col13a1 A G 10: 61,727,040 (GRCm39) Y228H probably benign Het
Cybb C A X: 9,319,892 (GRCm39) E203* probably null Het
Dnah6 A T 6: 73,018,037 (GRCm39) M3594K probably damaging Het
Galnt14 C A 17: 73,811,903 (GRCm39) Q439H possibly damaging Het
Gck T A 11: 5,859,093 (GRCm39) D158V probably damaging Het
Gm5624 A G 14: 44,798,222 (GRCm39) M85T possibly damaging Het
Hgsnat A T 8: 26,436,480 (GRCm39) N557K probably damaging Het
Idua A G 5: 108,829,362 (GRCm39) T388A probably benign Het
Itgam A G 7: 127,712,191 (GRCm39) D692G probably benign Het
Lrrtm3 A G 10: 63,924,799 (GRCm39) Y123H probably benign Het
Mccc1 C T 3: 36,022,595 (GRCm39) R566H probably benign Het
Myh7 A T 14: 55,220,802 (GRCm39) L999Q probably damaging Het
Myo6 T G 9: 80,207,947 (GRCm39) Y1146* probably null Het
Nr3c1 C A 18: 39,619,313 (GRCm39) G325W probably damaging Het
Or2r11 A G 6: 42,437,434 (GRCm39) V173A probably benign Het
Or5p72 T A 7: 108,021,806 (GRCm39) H9Q probably benign Het
Or7e170 T A 9: 19,794,735 (GRCm39) I289F possibly damaging Het
Phf1 T C 17: 27,153,344 (GRCm39) probably null Het
Piezo1 T C 8: 123,209,660 (GRCm39) T2349A probably benign Het
Pih1d1 T C 7: 44,808,545 (GRCm39) probably null Het
Pold3 A G 7: 99,745,719 (GRCm39) S145P probably damaging Het
Prpf38b G T 3: 108,811,261 (GRCm39) probably benign Het
Racgap1 A T 15: 99,521,521 (GRCm39) M545K probably benign Het
Safb T C 17: 56,912,287 (GRCm39) Y802H probably damaging Het
Serpina3f A T 12: 104,183,716 (GRCm39) M193L probably benign Het
Slc43a2 G A 11: 75,459,263 (GRCm39) V432M probably benign Het
Spata2l T C 8: 123,960,075 (GRCm39) R405G possibly damaging Het
Sv2c A G 13: 96,125,606 (GRCm39) V377A probably damaging Het
Tbc1d15 C T 10: 115,038,421 (GRCm39) M597I probably benign Het
Tenm4 A T 7: 96,492,175 (GRCm39) R1036S probably damaging Het
Tjp3 A G 10: 81,119,522 (GRCm39) Y15H probably benign Het
Tkt A G 14: 30,282,645 (GRCm39) probably benign Het
Trib2 G A 12: 15,859,932 (GRCm39) H110Y probably damaging Het
Trim60 A T 8: 65,453,224 (GRCm39) S342T probably damaging Het
Ube2o T C 11: 116,434,835 (GRCm39) E542G probably damaging Het
Usp36 T C 11: 118,170,067 (GRCm39) D218G probably damaging Het
Zfp407 A G 18: 84,227,846 (GRCm39) L1921P probably damaging Het
Zfp983 G T 17: 21,877,924 (GRCm39) M42I probably damaging Het
Other mutations in Tpm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Tpm2 APN 4 43,518,251 (GRCm39) missense probably damaging 1.00
IGL01447:Tpm2 APN 4 43,518,251 (GRCm39) nonsense probably null
PIT4791001:Tpm2 UTSW 4 43,519,263 (GRCm39) missense probably benign 0.30
R0970:Tpm2 UTSW 4 43,515,968 (GRCm39) missense probably benign 0.02
R2427:Tpm2 UTSW 4 43,523,306 (GRCm39) missense probably damaging 1.00
R4835:Tpm2 UTSW 4 43,519,220 (GRCm39) splice site probably null
R5249:Tpm2 UTSW 4 43,514,828 (GRCm39) missense probably benign
R5519:Tpm2 UTSW 4 43,522,751 (GRCm39) missense possibly damaging 0.87
R5568:Tpm2 UTSW 4 43,522,692 (GRCm39) nonsense probably null
R5746:Tpm2 UTSW 4 43,519,731 (GRCm39) missense possibly damaging 0.90
R5810:Tpm2 UTSW 4 43,518,968 (GRCm39) unclassified probably benign
R5850:Tpm2 UTSW 4 43,523,296 (GRCm39) missense probably damaging 1.00
R6000:Tpm2 UTSW 4 43,518,301 (GRCm39) critical splice acceptor site probably null
R6820:Tpm2 UTSW 4 43,518,443 (GRCm39) missense probably damaging 1.00
R7909:Tpm2 UTSW 4 43,515,939 (GRCm39) missense probably benign 0.06
R9473:Tpm2 UTSW 4 43,514,813 (GRCm39) nonsense probably null
Posted On 2016-08-02