Incidental Mutation 'R9501:Myl2'
| ID |
717558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myl2
|
| Ensembl Gene |
ENSMUSG00000013936 |
| Gene Name |
myosin, light polypeptide 2, regulatory, cardiac, slow |
| Synonyms |
MLC-2v, Mlc2v, MLC-2, Gm32672, Mylpc |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
122239014-122251535 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122241921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 66
(I66T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014080]
[ENSMUST00000058960]
[ENSMUST00000111750]
[ENSMUST00000111751]
[ENSMUST00000139213]
[ENSMUST00000146733]
[ENSMUST00000150535]
[ENSMUST00000152389]
[ENSMUST00000155612]
|
| AlphaFold |
P51667 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014080
AA Change: I66T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936
AA Change: I66T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
EFh
|
134 |
162 |
3.97e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058960
|
| SMART Domains |
Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
140 |
158 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
318 |
N/A |
INTRINSIC |
|
coiled coil region
|
393 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111750
AA Change: I66T
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107379
Gene: ENSMUSG00000013936
AA Change: I66T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111751
AA Change: I66T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936
AA Change: I66T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
28 |
56 |
2.81e-5 |
SMART |
|
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
EFh
|
134 |
162 |
3.97e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126006
|
| SMART Domains |
Protein: ENSMUSP00000123261
Gene: ENSMUSG00000013936
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2W4H|B
|
2 |
62 |
4e-8 |
PDB |
|
SCOP:d1wdcb_
|
10 |
62 |
4e-5 |
SMART |
|
Blast:EFh
|
37 |
62 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139213
AA Change: I47T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114156
Gene: ENSMUSG00000013936
AA Change: I47T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
7e-8 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
6.4e-8 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
6.2e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146733
AA Change: I47T
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142592
Gene: ENSMUSG00000013936
AA Change: I47T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
1.2e-6 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
1.1e-6 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150535
AA Change: I47T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120274
Gene: ENSMUSG00000013936
AA Change: I47T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
6 |
54 |
6.2e-8 |
PFAM |
|
Pfam:EF-hand_1
|
9 |
37 |
5.8e-8 |
PFAM |
|
Pfam:EF-hand_6
|
9 |
40 |
5.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152389
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119627
Gene: ENSMUSG00000013936
AA Change: I99T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_1
|
62 |
90 |
2.4e-8 |
PFAM |
|
Pfam:EF-hand_6
|
62 |
91 |
7.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155612
AA Change: I47T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120105
Gene: ENSMUSG00000013936
AA Change: I47T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
9 |
37 |
2.81e-5 |
SMART |
|
EFh
|
79 |
107 |
4.53e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-in allele exhibit embryonic growth retardation and die between E12.5 and E14.5 with abnormal heart development characterized by a single ventricle, complete absence of the interventricular groove and septum, and a thin myocardium compact layer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,214,853 (GRCm39) |
V439D |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,379,125 (GRCm39) |
S664P |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,282,019 (GRCm39) |
S202G |
unknown |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,735,032 (GRCm39) |
K782R |
probably benign |
Het |
| Bach1 |
A |
G |
16: 87,515,999 (GRCm39) |
Q180R |
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,542,477 (GRCm39) |
S372P |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,481 (GRCm39) |
S1587G |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,294 (GRCm39) |
I787N |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,452,045 (GRCm39) |
I1317L |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,777,322 (GRCm39) |
E850* |
probably null |
Het |
| Clpb |
G |
A |
7: 101,427,780 (GRCm39) |
G375D |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,328,235 (GRCm39) |
I124F |
possibly damaging |
Het |
| Cope |
A |
G |
8: 70,765,363 (GRCm39) |
N271S |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,722,961 (GRCm39) |
D479G |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,419,041 (GRCm39) |
C611S |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,928,992 (GRCm39) |
V1299L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,849 (GRCm39) |
Y1814C |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,209,130 (GRCm39) |
C1082R |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,207,920 (GRCm39) |
N450K |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,470,990 (GRCm39) |
I4925F |
possibly damaging |
Het |
| Iho1 |
A |
T |
9: 108,282,500 (GRCm39) |
V396E |
probably benign |
Het |
| Kin |
G |
T |
2: 10,085,478 (GRCm39) |
A13S |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,172,247 (GRCm39) |
R1581C |
|
Het |
| Npy5r |
A |
G |
8: 67,134,137 (GRCm39) |
C219R |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,664,757 (GRCm39) |
Y100N |
probably damaging |
Het |
| Pdk4 |
A |
G |
6: 5,491,084 (GRCm39) |
L227P |
probably damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,177 (GRCm39) |
E240D |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,204,156 (GRCm39) |
L46P |
|
Het |
| Pik3ca |
A |
G |
3: 32,504,062 (GRCm39) |
Y584C |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,779,037 (GRCm39) |
S230P |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,241,355 (GRCm39) |
F315S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,039 (GRCm39) |
R542G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,579 (GRCm39) |
N106S |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,122 (GRCm39) |
N775K |
probably damaging |
Het |
| Slc13a2 |
G |
A |
11: 78,291,633 (GRCm39) |
T340M |
probably damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,875,257 (GRCm39) |
Y438C |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,617,977 (GRCm39) |
Q336R |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,632,611 (GRCm39) |
V160A |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,060,506 (GRCm39) |
D183V |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
| Stxbp1 |
G |
A |
2: 32,692,825 (GRCm39) |
A397V |
probably benign |
Het |
| Tacr3 |
A |
G |
3: 134,535,092 (GRCm39) |
H20R |
probably benign |
Het |
| Tg |
T |
A |
15: 66,718,923 (GRCm39) |
D2626E |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,858,265 (GRCm39) |
M694T |
possibly damaging |
Het |
| Tpp1 |
G |
A |
7: 105,398,464 (GRCm39) |
A284V |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,176,943 (GRCm39) |
T327S |
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,510,404 (GRCm39) |
W274R |
unknown |
Het |
| Tshz2 |
A |
T |
2: 169,725,759 (GRCm39) |
E118D |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,470,980 (GRCm39) |
T990A |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,925,557 (GRCm39) |
D224G |
probably benign |
Het |
| Vmn2r130 |
A |
G |
17: 23,282,650 (GRCm39) |
Q110R |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,890 (GRCm39) |
K537R |
probably damaging |
Het |
|
| Other mutations in Myl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Myl2
|
APN |
5 |
122,244,767 (GRCm39) |
missense |
probably benign |
|
|
R2879:Myl2
|
UTSW |
5 |
122,242,748 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4580:Myl2
|
UTSW |
5 |
122,244,801 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5569:Myl2
|
UTSW |
5 |
122,244,783 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5782:Myl2
|
UTSW |
5 |
122,242,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Myl2
|
UTSW |
5 |
122,244,791 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6560:Myl2
|
UTSW |
5 |
122,240,834 (GRCm39) |
missense |
probably null |
1.00 |
|
R6878:Myl2
|
UTSW |
5 |
122,243,140 (GRCm39) |
missense |
probably benign |
|
|
R7163:Myl2
|
UTSW |
5 |
122,239,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Myl2
|
UTSW |
5 |
122,239,726 (GRCm39) |
missense |
|
|
|
R7951:Myl2
|
UTSW |
5 |
122,244,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8682:Myl2
|
UTSW |
5 |
122,244,798 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9345:Myl2
|
UTSW |
5 |
122,242,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9681:Myl2
|
UTSW |
5 |
122,240,783 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGGGCCTGAAGACACTTGC -3'
(R):5'- AATTCATGCCCAGAGGTGAAC -3'
Sequencing Primer
(F):5'- AATGAGCTCAGGTCTCATGTAGCC -3'
(R):5'- GGTGAACACGCGCATACACG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation