Incidental Mutation 'R6082:Tnnt2'
| ID |
482222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnnt2
|
| Ensembl Gene |
ENSMUSG00000026414 |
| Gene Name |
troponin T2, cardiac |
| Synonyms |
cardiac TnT, cTnT, Tnt |
| MMRRC Submission |
044241-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6082 (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 135777172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 199
(M199V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027671]
[ENSMUST00000112085]
[ENSMUST00000112086]
[ENSMUST00000112087]
[ENSMUST00000178204]
[ENSMUST00000178854]
[ENSMUST00000179863]
[ENSMUST00000188028]
[ENSMUST00000189826]
[ENSMUST00000189355]
[ENSMUST00000189732]
[ENSMUST00000190451]
|
| AlphaFold |
P50752 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027671
AA Change: M185V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027671
Gene: ENSMUSG00000026414
AA Change: M185V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000112085
AA Change: M189V
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107715
Gene: ENSMUSG00000026414
AA Change: M189V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000112086
AA Change: M195V
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107716
Gene: ENSMUSG00000026414
AA Change: M195V
| Domain | Start | End | E-Value | Type |
|---|
|
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: M195V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107717
Gene: ENSMUSG00000026414
AA Change: M195V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
37 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
106 |
250 |
1.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178204
AA Change: M199V
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137579
Gene: ENSMUSG00000026414
AA Change: M199V
| Domain | Start | End | E-Value | Type |
|---|
|
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: M189V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136265
Gene: ENSMUSG00000026414
AA Change: M189V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
100 |
244 |
1.7e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179863
AA Change: M199V
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137093
Gene: ENSMUSG00000026414
AA Change: M199V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
251 |
3e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188028
AA Change: M199V
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140941
Gene: ENSMUSG00000026414
AA Change: M199V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
251 |
3e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189826
AA Change: M199V
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140807
Gene: ENSMUSG00000026414
AA Change: M199V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
201 |
1.7e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189355
AA Change: M185V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139919
Gene: ENSMUSG00000026414
AA Change: M185V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
96 |
240 |
1.6e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189732
AA Change: M189V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139669
Gene: ENSMUSG00000026414
AA Change: M189V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
100 |
244 |
1.7e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190451
|
| SMART Domains |
Protein: ENSMUSP00000140282
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
PDB:2Z5H|T
|
85 |
114 |
3e-7 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
C |
1: 11,868,752 (GRCm39) |
I344T |
probably benign |
Het |
| Adamts19 |
G |
A |
18: 59,101,846 (GRCm39) |
A639T |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,866,930 (GRCm39) |
D122G |
probably damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,029 (GRCm39) |
S358P |
possibly damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Btaf1 |
C |
T |
19: 36,960,942 (GRCm39) |
R772C |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,301 (GRCm39) |
E1177G |
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,181,100 (GRCm39) |
|
probably null |
Het |
| Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,970,193 (GRCm39) |
S87P |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,760,568 (GRCm39) |
K682R |
possibly damaging |
Het |
| Eif4e2 |
G |
T |
1: 87,153,956 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
T |
C |
9: 101,848,303 (GRCm39) |
D665G |
probably damaging |
Het |
| Gbp7 |
G |
A |
3: 142,251,697 (GRCm39) |
V515M |
probably benign |
Het |
| Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
| Hook3 |
C |
A |
8: 26,600,813 (GRCm39) |
A32S |
probably benign |
Het |
| Hoxb4 |
T |
C |
11: 96,209,359 (GRCm39) |
|
probably benign |
Het |
| Idi1 |
T |
A |
13: 8,940,506 (GRCm39) |
Y229* |
probably null |
Het |
| Lpl |
A |
T |
8: 69,349,301 (GRCm39) |
I276F |
probably damaging |
Het |
| Ltbp4 |
T |
C |
7: 27,035,105 (GRCm39) |
|
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,905,998 (GRCm39) |
I64V |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,314,423 (GRCm39) |
D700G |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Myt1l |
T |
C |
12: 29,892,518 (GRCm39) |
Y52H |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,267,402 (GRCm39) |
D777E |
probably benign |
Het |
| Nudt4 |
A |
G |
10: 95,387,318 (GRCm39) |
I82T |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,962,374 (GRCm39) |
C653R |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,890,393 (GRCm39) |
Y7380H |
unknown |
Het |
| Or13a18 |
A |
G |
7: 140,190,594 (GRCm39) |
T172A |
probably benign |
Het |
| Or8b3b |
C |
A |
9: 38,583,866 (GRCm39) |
R291S |
probably damaging |
Het |
| Or8j3 |
A |
C |
2: 86,028,661 (GRCm39) |
V145G |
probably damaging |
Het |
| Or8s8 |
C |
T |
15: 98,354,647 (GRCm39) |
A152V |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,148,714 (GRCm39) |
M409K |
probably damaging |
Het |
| Ptpn11 |
T |
C |
5: 121,292,589 (GRCm39) |
T253A |
probably benign |
Het |
| Rabl6 |
C |
T |
2: 25,473,837 (GRCm39) |
|
probably benign |
Het |
| Rnf14 |
T |
C |
18: 38,434,723 (GRCm39) |
S57P |
possibly damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Slco1b2 |
A |
C |
6: 141,609,396 (GRCm39) |
I269L |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,656,714 (GRCm39) |
Y1918H |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,972,511 (GRCm39) |
M615V |
probably benign |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,429 (GRCm39) |
I628L |
probably benign |
Het |
| Zc2hc1b |
C |
A |
10: 13,047,055 (GRCm39) |
E19* |
probably null |
Het |
|
| Other mutations in Tnnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
|
R9530:Tnnt2
|
UTSW |
1 |
135,779,793 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCATGCCCATCTTGTG -3'
(R):5'- CCATGGTCAGGCTGATAGAC -3'
Sequencing Primer
(F):5'- ATGCCCATCTTGTGCCAGAAG -3'
(R):5'- CAGCTCAGGGGCTAGACATG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation