Incidental Mutation 'R9530:Tnnt2'
ID 719421
Institutional Source Beutler Lab
Gene Symbol Tnnt2
Ensembl Gene ENSMUSG00000026414
Gene Name troponin T2, cardiac
Synonyms cardiac TnT, cTnT, Tnt
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9530 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 135764092-135779998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135779793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 297 (T297A)
Ref Sequence ENSEMBL: ENSMUSP00000107716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027671] [ENSMUST00000112085] [ENSMUST00000112086] [ENSMUST00000112087] [ENSMUST00000178204] [ENSMUST00000178854] [ENSMUST00000188028] [ENSMUST00000179863] [ENSMUST00000189355] [ENSMUST00000189732] [ENSMUST00000189826] [ENSMUST00000190451]
AlphaFold P50752
Predicted Effect probably benign
Transcript: ENSMUST00000027671
AA Change: T287A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000027671
Gene: ENSMUSG00000026414
AA Change: T287A

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Pfam:Troponin 96 234 1e-33 PFAM
Pfam:Troponin 226 289 1.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112085
AA Change: T291A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107715
Gene: ENSMUSG00000026414
AA Change: T291A

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
low complexity region 20 54 N/A INTRINSIC
Pfam:Troponin 100 238 2.4e-33 PFAM
Pfam:Troponin 230 293 2.7e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112086
AA Change: T297A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107716
Gene: ENSMUSG00000026414
AA Change: T297A

DomainStartEndE-ValueType
low complexity region 3 58 N/A INTRINSIC
Pfam:Troponin 106 244 2.5e-33 PFAM
Pfam:Troponin 236 299 2.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112087
AA Change: T297A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107717
Gene: ENSMUSG00000026414
AA Change: T297A

DomainStartEndE-ValueType
coiled coil region 1 37 N/A INTRINSIC
Pfam:Troponin 106 250 1.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178204
AA Change: T298A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000137579
Gene: ENSMUSG00000026414
AA Change: T298A

DomainStartEndE-ValueType
coiled coil region 1 38 N/A INTRINSIC
Pfam:Troponin 110 245 3.8e-34 PFAM
Pfam:Troponin 238 300 4.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178854
AA Change: T291A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000136265
Gene: ENSMUSG00000026414
AA Change: T291A

DomainStartEndE-ValueType
coiled coil region 1 35 N/A INTRINSIC
Pfam:Troponin 100 244 1.7e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188028
AA Change: T298A

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140941
Gene: ENSMUSG00000026414
AA Change: T298A

DomainStartEndE-ValueType
coiled coil region 1 41 N/A INTRINSIC
Pfam:Troponin 110 251 3e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179863
AA Change: T298A

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137093
Gene: ENSMUSG00000026414
AA Change: T298A

DomainStartEndE-ValueType
coiled coil region 1 41 N/A INTRINSIC
Pfam:Troponin 110 251 3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189355
AA Change: T287A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139919
Gene: ENSMUSG00000026414
AA Change: T287A

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Pfam:Troponin 96 240 1.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189732
AA Change: T291A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139669
Gene: ENSMUSG00000026414
AA Change: T291A

DomainStartEndE-ValueType
coiled coil region 1 35 N/A INTRINSIC
Pfam:Troponin 100 244 1.7e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188098
Predicted Effect probably benign
Transcript: ENSMUST00000189826
SMART Domains Protein: ENSMUSP00000140807
Gene: ENSMUSG00000026414

DomainStartEndE-ValueType
coiled coil region 1 41 N/A INTRINSIC
Pfam:Troponin 110 201 1.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190451
SMART Domains Protein: ENSMUSP00000140282
Gene: ENSMUSG00000026414

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
PDB:2Z5H|T 85 114 3e-7 PDB
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during and prior to organogenesis and abnormal heart development. Mice homozygous for an allele that lacks the lysine residue at position 210 exhibit dilated cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,274,165 (GRCm39) N96S possibly damaging Het
Acsl6 C T 11: 54,220,783 (GRCm39) T301I probably damaging Het
Ankrd7 C A 6: 18,868,258 (GRCm39) Q127K probably benign Het
Ap1s1 T C 5: 137,064,612 (GRCm39) M155V probably benign Het
Appbp2 A C 11: 85,107,306 (GRCm39) C61W probably damaging Het
Atosb C T 4: 43,034,753 (GRCm39) R322Q probably damaging Het
Ccng1 A G 11: 40,644,885 (GRCm39) V4A probably benign Het
Cd163 G T 6: 124,294,491 (GRCm39) E550* probably null Het
Cdh2 A G 18: 16,783,466 (GRCm39) Y88H probably damaging Het
Cyp2c69 A G 19: 39,848,311 (GRCm39) S304P possibly damaging Het
Dync2i1 A G 12: 116,175,411 (GRCm39) I922T possibly damaging Het
Erbb3 T C 10: 128,410,291 (GRCm39) I656V probably benign Het
Fhod3 T A 18: 25,248,910 (GRCm39) I1363K probably damaging Het
Garre1 A G 7: 33,963,069 (GRCm39) V201A probably benign Het
Heatr1 G A 13: 12,439,607 (GRCm39) R1395H probably damaging Het
Herc4 T C 10: 63,126,382 (GRCm39) I578T probably benign Het
Herc6 T A 6: 57,602,899 (GRCm39) L526* probably null Het
Ighv5-9 A G 12: 113,625,677 (GRCm39) M22T probably benign Het
Klhl36 A G 8: 120,591,808 (GRCm39) E17G possibly damaging Het
Mast2 A C 4: 116,169,535 (GRCm39) L766R probably damaging Het
Megf8 G A 7: 25,030,124 (GRCm39) V420M probably benign Het
Met T C 6: 17,558,831 (GRCm39) V1153A probably damaging Het
Mrpl21 T A 19: 3,340,998 (GRCm39) I196N possibly damaging Het
Or7g21 G A 9: 19,033,051 (GRCm39) V264I probably benign Het
Polrmt C T 10: 79,574,545 (GRCm39) A883T probably benign Het
Prkcg G A 7: 3,375,965 (GRCm39) D537N possibly damaging Het
Rpap3 A T 15: 97,579,655 (GRCm39) D452E probably benign Het
Slc8a2 A G 7: 15,879,269 (GRCm39) D585G probably null Het
St18 T A 1: 6,872,997 (GRCm39) I244N probably benign Het
Stat1 T A 1: 52,187,160 (GRCm39) probably null Het
Stk39 A G 2: 68,198,755 (GRCm39) Y288H probably damaging Het
Tas2r140 G A 6: 133,032,494 (GRCm39) S88F probably benign Het
Tbc1d32 T C 10: 56,072,507 (GRCm39) E308G probably damaging Het
Tcf7l1 T C 6: 72,604,687 (GRCm39) T486A probably benign Het
Tie1 T C 4: 118,343,817 (GRCm39) T42A possibly damaging Het
Triobp G C 15: 78,886,321 (GRCm39) G1867R probably damaging Het
Vmn1r234 A G 17: 21,449,104 (GRCm39) H6R probably damaging Het
Vmn2r93 T A 17: 18,518,562 (GRCm39) I7N probably damaging Het
Vwa8 T A 14: 79,172,639 (GRCm39) S294T probably benign Het
Yjefn3 A G 8: 70,340,633 (GRCm39) V197A probably benign Het
Zcchc4 CAGAG CAG 5: 52,953,568 (GRCm39) probably null Het
Zfhx3 A G 8: 109,527,010 (GRCm39) E969G probably damaging Het
Zfp112 G T 7: 23,824,665 (GRCm39) C215F probably benign Het
Zfp994 A T 17: 22,420,514 (GRCm39) L145Q probably damaging Het
Other mutations in Tnnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Tnnt2 APN 1 135,779,440 (GRCm39) missense probably damaging 1.00
IGL00885:Tnnt2 APN 1 135,774,502 (GRCm39) splice site probably benign
IGL02223:Tnnt2 APN 1 135,769,753 (GRCm39) intron probably benign
IGL03094:Tnnt2 APN 1 135,777,200 (GRCm39) critical splice donor site probably null
R0827:Tnnt2 UTSW 1 135,771,534 (GRCm39) intron probably benign
R1469:Tnnt2 UTSW 1 135,779,793 (GRCm39) missense possibly damaging 0.83
R1469:Tnnt2 UTSW 1 135,779,793 (GRCm39) missense possibly damaging 0.83
R1478:Tnnt2 UTSW 1 135,775,764 (GRCm39) missense probably benign 0.40
R1728:Tnnt2 UTSW 1 135,773,244 (GRCm39) intron probably benign
R1729:Tnnt2 UTSW 1 135,773,244 (GRCm39) intron probably benign
R1730:Tnnt2 UTSW 1 135,773,244 (GRCm39) intron probably benign
R1739:Tnnt2 UTSW 1 135,773,244 (GRCm39) intron probably benign
R1762:Tnnt2 UTSW 1 135,773,244 (GRCm39) intron probably benign
R1783:Tnnt2 UTSW 1 135,773,244 (GRCm39) intron probably benign
R1784:Tnnt2 UTSW 1 135,773,244 (GRCm39) intron probably benign
R1785:Tnnt2 UTSW 1 135,773,244 (GRCm39) intron probably benign
R1891:Tnnt2 UTSW 1 135,768,597 (GRCm39) critical splice acceptor site probably null
R2049:Tnnt2 UTSW 1 135,774,499 (GRCm39) splice site probably benign
R2104:Tnnt2 UTSW 1 135,771,547 (GRCm39) intron probably benign
R2130:Tnnt2 UTSW 1 135,774,499 (GRCm39) splice site probably benign
R2141:Tnnt2 UTSW 1 135,774,499 (GRCm39) splice site probably benign
R2225:Tnnt2 UTSW 1 135,771,529 (GRCm39) intron probably benign
R2227:Tnnt2 UTSW 1 135,771,529 (GRCm39) intron probably benign
R2504:Tnnt2 UTSW 1 135,779,803 (GRCm39) missense probably damaging 0.96
R4883:Tnnt2 UTSW 1 135,775,496 (GRCm39) nonsense probably null
R5963:Tnnt2 UTSW 1 135,771,600 (GRCm39) intron probably benign
R6082:Tnnt2 UTSW 1 135,777,172 (GRCm39) missense probably benign 0.30
R6261:Tnnt2 UTSW 1 135,778,292 (GRCm39) splice site probably null
R7208:Tnnt2 UTSW 1 135,778,114 (GRCm39) splice site probably null
R7241:Tnnt2 UTSW 1 135,779,444 (GRCm39) missense probably damaging 1.00
R9038:Tnnt2 UTSW 1 135,774,484 (GRCm39) missense possibly damaging 0.78
R9140:Tnnt2 UTSW 1 135,768,635 (GRCm39) missense
R9515:Tnnt2 UTSW 1 135,768,640 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTGAGTGTCTCTGGCCCTTC -3'
(R):5'- ATAGTGCGGGCATAGGGGTC -3'

Sequencing Primer
(F):5'- GGCCCTTCTCTTAGCACGATG -3'
(R):5'- CATAGGGGTCAGGCAGAGTACTG -3'
Posted On 2022-07-18