Incidental Mutation 'R6493:Myl2'
ID |
522838 |
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 |
044625-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6493 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
122239014-122251535 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122244791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 154
(N154D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014080]
[ENSMUST00000058960]
[ENSMUST00000111750]
[ENSMUST00000111751]
[ENSMUST00000139213]
[ENSMUST00000152389]
[ENSMUST00000146733]
[ENSMUST00000155612]
[ENSMUST00000150535]
|
AlphaFold |
P51667 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014080
AA Change: N154D
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000014080 Gene: ENSMUSG00000013936 AA Change: N154D
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
|
SMART Domains |
Protein: ENSMUSP00000107379 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
EFh
|
28 |
56 |
2.81e-5 |
SMART |
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111751
AA Change: N154D
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107380 Gene: ENSMUSG00000013936 AA Change: N154D
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 |
noncoding transcript
Transcript: ENSMUST00000123913
|
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
|
SMART Domains |
Protein: ENSMUSP00000114156 Gene: ENSMUSG00000013936
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 |
noncoding transcript
Transcript: ENSMUST00000152744
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152389
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146733
|
SMART Domains |
Protein: ENSMUSP00000142592 Gene: ENSMUSG00000013936
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: ENSMUST00000153816
|
SMART Domains |
Protein: ENSMUSP00000119627 Gene: ENSMUSG00000013936
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 |
noncoding transcript
Transcript: ENSMUST00000198618
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155612
|
SMART Domains |
Protein: ENSMUSP00000120105 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
EFh
|
9 |
37 |
2.81e-5 |
SMART |
EFh
|
79 |
107 |
4.53e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150535
|
SMART Domains |
Protein: ENSMUSP00000120274 Gene: ENSMUSG00000013936
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 |
noncoding transcript
Transcript: ENSMUST00000147178
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,184,704 (GRCm39) |
H934L |
probably benign |
Het |
Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,395,018 (GRCm39) |
|
probably null |
Het |
Axdnd1 |
A |
T |
1: 156,208,383 (GRCm39) |
I485N |
probably damaging |
Het |
Bscl2 |
A |
G |
19: 8,817,138 (GRCm39) |
D22G |
probably damaging |
Het |
Ccdc96 |
A |
G |
5: 36,643,596 (GRCm39) |
E534G |
probably damaging |
Het |
Cdc42bpg |
G |
T |
19: 6,368,485 (GRCm39) |
G1061V |
probably damaging |
Het |
Cers3 |
T |
C |
7: 66,393,468 (GRCm39) |
Y26H |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
Daxx |
T |
A |
17: 34,131,345 (GRCm39) |
|
probably null |
Het |
Egf |
T |
C |
3: 129,512,737 (GRCm39) |
|
probably benign |
Het |
Eps15 |
A |
G |
4: 109,226,145 (GRCm39) |
D629G |
probably damaging |
Het |
Fancm |
G |
A |
12: 65,144,262 (GRCm39) |
A575T |
probably benign |
Het |
Fat4 |
G |
A |
3: 38,945,036 (GRCm39) |
D1310N |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Grxcr2 |
G |
A |
18: 42,131,766 (GRCm39) |
P101L |
possibly damaging |
Het |
Hsd17b12 |
A |
T |
2: 93,874,228 (GRCm39) |
I225N |
probably damaging |
Het |
Kcnj8 |
T |
C |
6: 142,511,773 (GRCm39) |
Y278C |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,615,205 (GRCm39) |
|
probably null |
Het |
Lax1 |
C |
T |
1: 133,607,530 (GRCm39) |
D404N |
probably benign |
Het |
Lipg |
T |
C |
18: 75,081,095 (GRCm39) |
K329E |
probably damaging |
Het |
Lysmd2 |
T |
G |
9: 75,542,984 (GRCm39) |
L197R |
probably damaging |
Het |
Maneal |
A |
T |
4: 124,750,964 (GRCm39) |
I264N |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,149,455 (GRCm39) |
N1729S |
probably benign |
Het |
Nlrp9c |
T |
A |
7: 26,081,812 (GRCm39) |
D638V |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,362,110 (GRCm39) |
H74R |
unknown |
Het |
Olfml3 |
A |
T |
3: 103,643,523 (GRCm39) |
V286D |
possibly damaging |
Het |
Or14c46 |
T |
G |
7: 85,918,090 (GRCm39) |
K302N |
probably benign |
Het |
Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
Or51a25 |
G |
T |
7: 102,373,287 (GRCm39) |
R137S |
possibly damaging |
Het |
Or51f23c-ps1 |
A |
G |
7: 102,431,603 (GRCm39) |
K307E |
probably benign |
Het |
Or8k41 |
T |
C |
2: 86,313,565 (GRCm39) |
I174V |
possibly damaging |
Het |
Parn |
A |
C |
16: 13,474,789 (GRCm39) |
F127V |
probably damaging |
Het |
Pcdhac2 |
T |
C |
18: 37,277,758 (GRCm39) |
V246A |
probably damaging |
Het |
Plin2 |
G |
A |
4: 86,580,224 (GRCm39) |
T90I |
possibly damaging |
Het |
Podxl |
C |
T |
6: 31,501,981 (GRCm39) |
C326Y |
probably damaging |
Het |
Pramel46 |
A |
G |
5: 95,418,684 (GRCm39) |
L104P |
probably damaging |
Het |
Prl8a8 |
T |
A |
13: 27,691,335 (GRCm39) |
K223* |
probably null |
Het |
Ptprh |
T |
G |
7: 4,583,989 (GRCm39) |
E201A |
possibly damaging |
Het |
Rtn1 |
A |
C |
12: 72,355,103 (GRCm39) |
V281G |
probably damaging |
Het |
Scaf8 |
T |
C |
17: 3,221,394 (GRCm39) |
S294P |
unknown |
Het |
Shroom3 |
C |
A |
5: 93,089,420 (GRCm39) |
N723K |
probably benign |
Het |
Spata22 |
T |
C |
11: 73,244,572 (GRCm39) |
*312R |
probably null |
Het |
Stx7 |
T |
C |
10: 24,060,969 (GRCm39) |
|
probably null |
Het |
Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
Tbccd1 |
A |
C |
16: 22,641,216 (GRCm39) |
L387R |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,146,792 (GRCm39) |
M525V |
probably benign |
Het |
Tex10 |
A |
T |
4: 48,436,450 (GRCm39) |
I756N |
probably damaging |
Het |
Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,572,341 (GRCm39) |
E24438G |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,384,002 (GRCm39) |
K1053R |
probably damaging |
Het |
Wdpcp |
C |
T |
11: 21,661,631 (GRCm39) |
T301I |
possibly damaging |
Het |
Zbtb1 |
C |
T |
12: 76,433,247 (GRCm39) |
T411I |
probably benign |
Het |
Zzef1 |
G |
A |
11: 72,804,129 (GRCm39) |
G2624R |
probably benign |
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 |
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 |
R9501:Myl2
|
UTSW |
5 |
122,241,921 (GRCm39) |
missense |
probably benign |
0.04 |
R9681:Myl2
|
UTSW |
5 |
122,240,783 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACTTTTGGGCCTGCTGAC -3'
(R):5'- TCACAGAACCCAAATACTTTGTGAC -3'
Sequencing Primer
(F):5'- CACCTCAAGTCCTGCTGAC -3'
(R):5'- CTTTGGCTACTTAGAGCCAAATGAGC -3'
|
Posted On |
2018-06-06 |