Incidental Mutation 'R7163:Myl2'
ID 557723
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 045330-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7163 (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 A at 122239885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 26 (I26N)
Ref Sequence ENSEMBL: ENSMUSP00000014080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014080] [ENSMUST00000111750] [ENSMUST00000111751] [ENSMUST00000139213] [ENSMUST00000146733] [ENSMUST00000150535] [ENSMUST00000155612]
AlphaFold P51667
Predicted Effect probably damaging
Transcript: ENSMUST00000014080
AA Change: I26N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936
AA Change: I26N

DomainStartEndE-ValueType
EFh 28 56 2.81e-5 SMART
EFh 98 126 4.53e0 SMART
EFh 134 162 3.97e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111750
AA Change: I26N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107379
Gene: ENSMUSG00000013936
AA Change: I26N

DomainStartEndE-ValueType
EFh 28 56 2.81e-5 SMART
EFh 98 126 4.53e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111751
AA Change: I26N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936
AA Change: I26N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000139213
AA Change: I7N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114156
Gene: ENSMUSG00000013936
AA Change: I7N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000146733
AA Change: I7N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142592
Gene: ENSMUSG00000013936
AA Change: I7N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000150535
AA Change: I7N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120274
Gene: ENSMUSG00000013936
AA Change: I7N

DomainStartEndE-ValueType
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: I59N

DomainStartEndE-ValueType
Pfam:EF-hand_1 62 90 2.4e-8 PFAM
Pfam:EF-hand_6 62 91 7.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000155612
AA Change: I7N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120105
Gene: ENSMUSG00000013936
AA Change: I7N

DomainStartEndE-ValueType
EFh 9 37 2.81e-5 SMART
EFh 79 107 4.53e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A G 9: 53,319,372 (GRCm39) K4R possibly damaging Het
A830018L16Rik G A 1: 11,484,848 (GRCm39) G19D probably damaging Het
Abca3 A T 17: 24,583,916 (GRCm39) M102L probably benign Het
Adam19 A T 11: 46,022,544 (GRCm39) Y499F probably benign Het
Adck2 T C 6: 39,560,797 (GRCm39) V444A probably damaging Het
Adck5 T C 15: 76,478,016 (GRCm39) V214A probably damaging Het
Agrn G A 4: 156,262,966 (GRCm39) T437M probably damaging Het
Aox3 A T 1: 58,158,671 (GRCm39) I81F probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Blmh A G 11: 76,836,987 (GRCm39) Y23C unknown Het
Cacnb1 A G 11: 97,903,726 (GRCm39) V109A probably benign Het
Ccdc27 C T 4: 154,117,282 (GRCm39) R555H not run Het
Cep170 A C 1: 176,602,031 (GRCm39) S358R probably damaging Het
Cfap46 A T 7: 139,197,994 (GRCm39) probably null Het
Dclk1 G T 3: 55,163,549 (GRCm39) E214* probably null Het
Dhrs1 A G 14: 55,976,838 (GRCm39) L282P probably benign Het
Dlgap5 A G 14: 47,637,095 (GRCm39) L461P probably damaging Het
Elp2 G T 18: 24,747,503 (GRCm39) C185F probably benign Het
Fbxw7 T C 3: 84,832,892 (GRCm39) probably benign Het
Fga T C 3: 82,933,571 (GRCm39) V17A probably benign Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm43302 T A 5: 105,441,493 (GRCm39) probably null Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Hcn1 A T 13: 118,062,083 (GRCm39) I450L unknown Het
Hydin T A 8: 111,329,968 (GRCm39) C4901S probably benign Het
Ino80 A T 2: 119,223,356 (GRCm39) I1186N probably damaging Het
Ints7 T A 1: 191,349,949 (GRCm39) I781N possibly damaging Het
Irf2 T A 8: 47,290,712 (GRCm39) V178E possibly damaging Het
Iws1 T A 18: 32,226,277 (GRCm39) S722T possibly damaging Het
Jak1 G A 4: 101,032,385 (GRCm39) S407F probably damaging Het
Kdm3a G T 6: 71,609,061 (GRCm39) D55E probably damaging Het
Kdm5d T C Y: 899,940 (GRCm39) S169P probably damaging Het
Kif15 A G 9: 122,846,722 (GRCm39) N1348S probably damaging Het
Kpna7 G A 5: 144,939,206 (GRCm39) P187L unknown Het
Krt35 A T 11: 99,986,984 (GRCm39) F10Y probably damaging Het
Lemd1 G T 1: 132,184,475 (GRCm39) V131F probably benign Het
Mcf2l G A 8: 12,965,439 (GRCm39) R4H probably benign Het
Megf6 C T 4: 154,351,898 (GRCm39) R1166C probably damaging Het
Mmp11 T C 10: 75,762,410 (GRCm39) I308V possibly damaging Het
Mrgpra4 A G 7: 47,631,238 (GRCm39) V121A probably benign Het
Myo15a A G 11: 60,389,195 (GRCm39) M862V Het
Nckap5l T C 15: 99,331,354 (GRCm39) H64R probably damaging Het
Nipsnap2 A C 5: 129,821,774 (GRCm39) E90A probably benign Het
Nup210 G T 6: 91,050,313 (GRCm39) N385K probably damaging Het
Or2h2 T C 17: 37,396,937 (GRCm39) N40S probably damaging Het
Or2t48 C A 11: 58,419,994 (GRCm39) E273* probably null Het
Or5m11b T A 2: 85,805,932 (GRCm39) L115Q probably damaging Het
Or8c19-ps1 T C 9: 38,220,345 (GRCm39) F85L probably damaging Het
Or9e1 T C 11: 58,732,012 (GRCm39) V24A probably benign Het
Pcmt1 A T 10: 7,513,922 (GRCm39) M249K probably benign Het
Pde3a T C 6: 141,433,270 (GRCm39) L767P probably damaging Het
Pde8a T C 7: 80,956,456 (GRCm39) V285A possibly damaging Het
Pla2g4a T A 1: 149,716,416 (GRCm39) K690* probably null Het
Plxna4 T C 6: 32,473,691 (GRCm39) H442R probably benign Het
Polr1b A G 2: 128,967,931 (GRCm39) D1108G probably benign Het
Prkn G A 17: 12,280,434 (GRCm39) C430Y probably damaging Het
Sec23ip T C 7: 128,364,257 (GRCm39) probably null Het
Slc24a3 A G 2: 145,086,911 (GRCm39) D57G probably benign Het
Sprtn T G 8: 125,625,044 (GRCm39) F50V probably damaging Het
Srr A G 11: 74,803,828 (GRCm39) F43S probably damaging Het
Szt2 A G 4: 118,262,727 (GRCm39) F17L possibly damaging Het
Taar1 G T 10: 23,796,918 (GRCm39) M205I probably benign Het
Tas2r143 A G 6: 42,377,202 (GRCm39) I11V probably benign Het
Tlx1 T C 19: 45,139,655 (GRCm39) S101P probably damaging Het
Tmeff2 T C 1: 50,977,503 (GRCm39) probably null Het
Vhl A G 6: 113,606,451 (GRCm39) D156G possibly damaging Het
Washc4 T A 10: 83,426,897 (GRCm39) D1068E probably damaging Het
Zfp513 A G 5: 31,358,076 (GRCm39) V101A probably benign Het
Zfp82 T C 7: 29,761,669 (GRCm39) R71G probably benign Het
Other mutations in Myl2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGGGGTATCATTTCGCCTCG -3'
(R):5'- CCAGCGCCTTTCTGAGAAATC -3'

Sequencing Primer
(F):5'- CCTCGCATGTTGTCTGGGTAC -3'
(R):5'- TCCCTGCATTTCAGCAAAGGG -3'
Posted On 2019-06-26