Incidental Mutation 'R7374:Myl2'
| ID |
572263 |
| 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 |
045457-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7374 (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 122239726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 28
(Y28C)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014080]
[ENSMUST00000111750]
[ENSMUST00000111751]
[ENSMUST00000139213]
[ENSMUST00000146733]
[ENSMUST00000150535]
[ENSMUST00000155612]
|
| AlphaFold |
P51667 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014080
|
| SMART Domains |
Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936
| 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: 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 |
probably benign
Transcript: ENSMUST00000111751
|
| SMART Domains |
Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936
| 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
|
| 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 |
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: 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119627
Gene: ENSMUSG00000013936
AA Change: Y28C
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,242,136 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Abcd4 |
A |
T |
12: 84,653,017 (GRCm39) |
L395* |
probably null |
Het |
| Cdh23 |
G |
A |
10: 60,153,679 (GRCm39) |
R2304W |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,126,883 (GRCm39) |
T432A |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,276,731 (GRCm39) |
W2792R |
unknown |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,648 (GRCm39) |
|
probably null |
Het |
| Ddx51 |
C |
A |
5: 110,804,998 (GRCm39) |
T580K |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,241,094 (GRCm39) |
D112V |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,519,465 (GRCm39) |
N25S |
probably damaging |
Het |
| Gas6 |
A |
T |
8: 13,524,802 (GRCm39) |
V330D |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,027,959 (GRCm39) |
T22A |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,641,240 (GRCm39) |
V108A |
|
Het |
| Gm8257 |
T |
C |
14: 44,887,740 (GRCm39) |
E215G |
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,080,634 (GRCm39) |
S206T |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,648,383 (GRCm39) |
T118A |
probably benign |
Het |
| Hfe |
T |
G |
13: 23,890,030 (GRCm39) |
T248P |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 941,491 (GRCm39) |
W1231R |
probably benign |
Het |
| Ltbp2 |
C |
T |
12: 84,876,949 (GRCm39) |
D419N |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,980,109 (GRCm39) |
A232T |
|
Het |
| Mgam |
G |
A |
6: 40,734,373 (GRCm39) |
E1473K |
possibly damaging |
Het |
| Mtbp |
A |
C |
15: 55,426,355 (GRCm39) |
E99A |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,416,863 (GRCm39) |
T3270S |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,896,097 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
A |
G |
10: 93,518,434 (GRCm39) |
H247R |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,658,335 (GRCm39) |
V1568A |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,791 (GRCm39) |
G414D |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,946,095 (GRCm39) |
F31S |
probably damaging |
Het |
| Or8k25 |
C |
A |
2: 86,244,196 (GRCm39) |
A67S |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,204,780 (GRCm39) |
V547I |
possibly damaging |
Het |
| Pom121l12 |
A |
T |
11: 14,549,962 (GRCm39) |
M223L |
probably benign |
Het |
| Prps1l1 |
T |
C |
12: 35,035,424 (GRCm39) |
S180P |
possibly damaging |
Het |
| Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,471,235 (GRCm39) |
R1014W |
probably damaging |
Het |
| Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
| Rhbdl2 |
G |
C |
4: 123,711,658 (GRCm39) |
V132L |
probably benign |
Het |
| Slc15a2 |
G |
T |
16: 36,572,207 (GRCm39) |
T719K |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,937,542 (GRCm39) |
T465A |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
| Sv2c |
A |
T |
13: 96,125,644 (GRCm39) |
H364Q |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,354,533 (GRCm39) |
L401Q |
possibly damaging |
Het |
| Trav9d-4 |
A |
G |
14: 53,221,300 (GRCm39) |
Y98C |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,217,639 (GRCm39) |
C195S |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,315,815 (GRCm39) |
Y191H |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,381,305 (GRCm39) |
I839V |
probably benign |
Het |
| Vmn1r52 |
A |
T |
6: 90,156,118 (GRCm39) |
I141F |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,160 (GRCm39) |
H200R |
probably damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,881,607 (GRCm39) |
M491K |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,630 (GRCm39) |
I239V |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,758,939 (GRCm39) |
C1006W |
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 |
|
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'- GCTGCTAGAGACTGCAGCTAAG -3'
(R):5'- TGCAGATCATTTCCCAGGTCTG -3'
Sequencing Primer
(F):5'- ACTGCAGCTAAGGGGCG -3'
(R):5'- CCAGGTCTGGTGTCATTATATCG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation