Incidental Mutation 'R2427:Tpm2'
| ID |
250264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpm2
|
| Ensembl Gene |
ENSMUSG00000028464 |
| Gene Name |
tropomyosin 2, beta |
| Synonyms |
Tpm-2, Trop-2 |
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.554)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43514711-43523765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43523306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 17
(N17D)
|
| 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: N17D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464
AA Change: N17D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
3.3e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
1.5e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107913
AA Change: N17D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464
AA Change: N17D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
6.5e-36 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
4.8e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107914
AA Change: N17D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464
AA Change: N17D
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: N17D
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119908
Gene: ENSMUSG00000028464
AA Change: N17D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
106 |
2.2e-26 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
106 |
1.1e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.1435 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
Het |
|
| Other mutations in Tpm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
IGL03145:Tpm2
|
APN |
4 |
43,519,447 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAGGCTCAACTCTGGAGGG -3'
(R):5'- CTTCTGCCCCTACAAGGTTTGG -3'
Sequencing Primer
(F):5'- TCAACTCTGGAGGGTCCTG -3'
(R):5'- CCTTTTAGGCGCCCGCG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation