Incidental Mutation 'R8776:Tnnc2'
ID 664689
Institutional Source Beutler Lab
Gene Symbol Tnnc2
Ensembl Gene ENSMUSG00000017300
Gene Name troponin C2, fast
Synonyms Tncs
MMRRC Submission 068629-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # R8776 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164619081-164621654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 164620135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 6 (A6T)
Ref Sequence ENSEMBL: ENSMUSP00000099384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001439] [ENSMUST00000103095]
AlphaFold P20801
Predicted Effect probably benign
Transcript: ENSMUST00000001439
SMART Domains Protein: ENSMUSP00000001439
Gene: ENSMUSG00000001403

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
UBCc 33 170 8.8e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103095
AA Change: A6T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099384
Gene: ENSMUSG00000017300
AA Change: A6T

DomainStartEndE-ValueType
EFh 19 47 2.44e-5 SMART
EFh 55 83 8.31e-8 SMART
EFh 95 123 2.01e-6 SMART
EFh 131 159 8.06e-6 SMART
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,245,002 (GRCm39) Y117H probably benign Het
a A G 2: 154,892,612 (GRCm39) D97G probably damaging Het
Cdca7l T C 12: 117,836,098 (GRCm39) S190P probably damaging Het
Chst9 T A 18: 15,586,086 (GRCm39) Y159F possibly damaging Het
Col26a1 G A 5: 136,911,708 (GRCm39) R52C probably damaging Het
Dchs2 A T 3: 83,263,701 (GRCm39) D3323V possibly damaging Het
Dennd11 T C 6: 40,395,775 (GRCm39) probably benign Het
Dqx1 T A 6: 83,035,619 (GRCm39) I44N probably damaging Het
Edc4 A G 8: 106,613,992 (GRCm39) D415G probably damaging Het
Enpp3 T A 10: 24,650,733 (GRCm39) D801V probably damaging Het
Fam13b G A 18: 34,584,446 (GRCm39) R573C probably damaging Het
Fgfr2 A T 7: 129,798,002 (GRCm39) I415N possibly damaging Het
Gm32742 T A 9: 51,067,230 (GRCm39) M366L probably benign Het
Gm49336 A T 14: 60,457,515 (GRCm39) S563T possibly damaging Het
Gm5475 T C 15: 100,324,892 (GRCm39) F107L unknown Het
Lamp3 T C 16: 19,474,252 (GRCm39) D374G probably damaging Het
Lin9 T C 1: 180,496,450 (GRCm39) probably null Het
Mef2d T C 3: 88,074,956 (GRCm39) S381P probably benign Het
Mfsd9 A G 1: 40,812,915 (GRCm39) *467Q probably null Het
Mpo A G 11: 87,693,538 (GRCm39) I639V possibly damaging Het
Mrgprh T C 17: 13,096,375 (GRCm39) I205T probably benign Het
Ncapd2 T C 6: 125,154,476 (GRCm39) D580G probably benign Het
Nkain4 T A 2: 180,585,920 (GRCm39) I48F probably damaging Het
Notch4 C A 17: 34,806,579 (GRCm39) R1839S probably damaging Het
Nr6a1 A G 2: 38,650,244 (GRCm39) Y129H probably damaging Het
Nras T C 3: 102,966,176 (GRCm39) probably benign Het
Or7g19 T A 9: 18,856,286 (GRCm39) I114N possibly damaging Het
Robo1 G T 16: 72,821,141 (GRCm39) E1294* probably null Het
Septin8 A G 11: 53,428,343 (GRCm39) K331R probably benign Het
Shmt2 A G 10: 127,356,785 (GRCm39) probably null Het
Skint6 A C 4: 112,661,885 (GRCm39) L1233R possibly damaging Het
Slc41a3 A T 6: 90,621,165 (GRCm39) T402S probably benign Het
Slc9a2 A G 1: 40,781,889 (GRCm39) T373A probably damaging Het
Spata31d1b T C 13: 59,863,283 (GRCm39) C144R probably benign Het
Syne1 A G 10: 5,181,783 (GRCm39) V4184A possibly damaging Het
Tenm4 G A 7: 96,544,239 (GRCm39) R2122H probably damaging Het
Tlnrd1 A T 7: 83,532,316 (GRCm39) D38E probably benign Het
Usp9y A G Y: 1,356,320 (GRCm39) V1127A probably benign Het
Ylpm1 T C 12: 85,077,195 (GRCm39) Y1307H probably damaging Het
Zfp266 T C 9: 20,411,509 (GRCm39) S223G probably benign Het
Other mutations in Tnnc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Tnnc2 APN 2 164,619,753 (GRCm39) missense probably damaging 1.00
IGL02830:Tnnc2 APN 2 164,619,430 (GRCm39) missense probably null 0.99
R0211:Tnnc2 UTSW 2 164,619,404 (GRCm39) missense probably damaging 1.00
R0211:Tnnc2 UTSW 2 164,619,404 (GRCm39) missense probably damaging 1.00
R1635:Tnnc2 UTSW 2 164,619,512 (GRCm39) missense probably benign 0.00
R3968:Tnnc2 UTSW 2 164,619,457 (GRCm39) missense possibly damaging 0.89
R7960:Tnnc2 UTSW 2 164,619,704 (GRCm39) missense probably benign
R8066:Tnnc2 UTSW 2 164,619,661 (GRCm39) missense possibly damaging 0.85
R8776-TAIL:Tnnc2 UTSW 2 164,620,135 (GRCm39) missense probably benign
Z1177:Tnnc2 UTSW 2 164,619,891 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTGCCCAACTCTTTAACGC -3'
(R):5'- AAACTGTGGGTATAACCTGTGTC -3'

Sequencing Primer
(F):5'- GTGCCCAACTCTTTAACGCTGATG -3'
(R):5'- GGTATAACCTGTGTCCCTTTGGC -3'
Posted On 2021-03-08