Incidental Mutation 'IGL02830:Tnnc2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnnc2
Ensembl Gene ENSMUSG00000017300
Gene Nametroponin C2, fast
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.409) question?
Stock #IGL02830
Quality Score
Chromosomal Location164777161-164779967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 164777510 bp
Amino Acid Change Aspartic acid to Valine at position 138 (D138V)
Ref Sequence ENSEMBL: ENSMUSP00000099384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001439] [ENSMUST00000088248] [ENSMUST00000103095]
Predicted Effect probably benign
Transcript: ENSMUST00000001439
SMART Domains Protein: ENSMUSP00000001439
Gene: ENSMUSG00000001403

low complexity region 9 16 N/A INTRINSIC
UBCc 33 170 8.8e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088248
SMART Domains Protein: ENSMUSP00000085581
Gene: ENSMUSG00000001403

low complexity region 9 16 N/A INTRINSIC
UBCc 33 175 1.88e-64 SMART
Predicted Effect probably null
Transcript: ENSMUST00000103095
AA Change: D138V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099384
Gene: ENSMUSG00000017300
AA Change: D138V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155443
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,037,426 E67D possibly damaging Het
9530053A07Rik C A 7: 28,162,923 H2471Q probably damaging Het
Acad11 T A 9: 104,075,919 F116I probably damaging Het
Acox2 G A 14: 8,255,298 T160I probably damaging Het
Anxa7 A T 14: 20,456,540 M444K possibly damaging Het
Atg2a A G 19: 6,247,681 D423G probably benign Het
Cela3a T C 4: 137,401,635 N282S probably benign Het
Cyp2c50 G A 19: 40,098,056 V296I probably benign Het
Fgd3 A G 13: 49,264,631 probably benign Het
Gimap8 G A 6: 48,656,305 A353T probably benign Het
Grin3a T A 4: 49,702,787 M900L possibly damaging Het
H1f0 T G 15: 79,029,311 probably benign Het
Heatr1 T C 13: 12,426,212 V1456A possibly damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 S157T possibly damaging Het
Kif19a C T 11: 114,781,208 T207M probably damaging Het
Klc1 T C 12: 111,776,907 Y223H probably damaging Het
Klhl33 C T 14: 50,891,757 V672M probably damaging Het
Lrrc49 G A 9: 60,685,110 L34F probably damaging Het
Nalcn C T 14: 123,293,469 V1386I probably damaging Het
Olfr142 A T 2: 90,252,781 I69N probably damaging Het
Olfr201 A G 16: 59,269,053 S205P possibly damaging Het
Olfr292 T G 7: 86,695,174 C239W probably damaging Het
Olfr65 C T 7: 103,906,444 P2S probably benign Het
Orc5 A T 5: 22,529,267 L173Q probably damaging Het
Otud4 T G 8: 79,673,301 D880E probably benign Het
Pde12 T C 14: 26,668,585 Y323C probably damaging Het
Pde8b G T 13: 95,052,901 D198E probably benign Het
Prom2 T A 2: 127,535,069 I542F possibly damaging Het
Ptprj G A 2: 90,453,144 T952I probably benign Het
Ribc2 T A 15: 85,132,257 probably benign Het
Sec31b C T 19: 44,531,703 R214K probably damaging Het
Senp5 G A 16: 31,983,485 probably benign Het
Sh3pxd2a G A 19: 47,283,078 R249W probably damaging Het
Sorcs3 G A 19: 48,723,002 probably null Het
Spata31d1c A G 13: 65,035,366 T241A probably benign Het
Tac1 G A 6: 7,555,650 V13I probably benign Het
Tspan32 T A 7: 143,017,592 M159K possibly damaging Het
Tsta3 C T 15: 75,925,588 V275I probably benign Het
Ttc28 A T 5: 111,286,239 T2380S probably benign Het
Ubc T A 5: 125,387,313 I317F probably damaging Het
Usp24 T C 4: 106,347,387 S268P possibly damaging Het
Vmn2r91 C A 17: 18,136,622 H850Q probably benign Het
Xrn1 T C 9: 96,018,181 probably null Het
Zfp329 A C 7: 12,810,116 C494G probably damaging Het
Zfp54 T C 17: 21,433,456 S71P probably damaging Het
Other mutations in Tnnc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Tnnc2 APN 2 164777833 missense probably damaging 1.00
R0211:Tnnc2 UTSW 2 164777484 missense probably damaging 1.00
R0211:Tnnc2 UTSW 2 164777484 missense probably damaging 1.00
R1635:Tnnc2 UTSW 2 164777592 missense probably benign 0.00
R3968:Tnnc2 UTSW 2 164777537 missense possibly damaging 0.89
R8066:Tnnc2 UTSW 2 164777741 missense possibly damaging 0.85
Z1177:Tnnc2 UTSW 2 164777971 missense probably benign 0.00
Posted On2015-12-18