Incidental Mutation 'R6560:Myl2'
ID 522002
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 044684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6560 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 122239014-122251535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122240834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 38 (G38R)
Ref Sequence ENSEMBL: ENSMUSP00000120274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014080] [ENSMUST00000111750] [ENSMUST00000111751] [ENSMUST00000139213] [ENSMUST00000146733] [ENSMUST00000150535] [ENSMUST00000155612]
AlphaFold P51667
Predicted Effect probably null
Transcript: ENSMUST00000014080
AA Change: G57R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936
AA Change: G57R

DomainStartEndE-ValueType
EFh 28 56 2.81e-5 SMART
EFh 98 126 4.53e0 SMART
EFh 134 162 3.97e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111750
AA Change: G57R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107379
Gene: ENSMUSG00000013936
AA Change: G57R

DomainStartEndE-ValueType
EFh 28 56 2.81e-5 SMART
EFh 98 126 4.53e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111751
AA Change: G57R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936
AA Change: G57R

DomainStartEndE-ValueType
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

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 null
Transcript: ENSMUST00000139213
AA Change: G38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114156
Gene: ENSMUSG00000013936
AA Change: G38R

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 null
Transcript: ENSMUST00000146733
AA Change: G38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142592
Gene: ENSMUSG00000013936
AA Change: G38R

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 null
Transcript: ENSMUST00000150535
AA Change: G38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120274
Gene: ENSMUSG00000013936
AA Change: G38R

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 probably null
Transcript: ENSMUST00000153816
AA Change: G90R
SMART Domains Protein: ENSMUSP00000119627
Gene: ENSMUSG00000013936
AA Change: G90R

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 null
Transcript: ENSMUST00000155612
AA Change: G38R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120105
Gene: ENSMUSG00000013936
AA Change: G38R

DomainStartEndE-ValueType
EFh 9 37 2.81e-5 SMART
EFh 79 107 4.53e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152744
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,843,230 (GRCm39) L1235Q probably damaging Het
Acin1 T C 14: 54,916,290 (GRCm39) T174A probably benign Het
Adamtsl1 G A 4: 86,255,130 (GRCm39) R733H probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Arsk A T 13: 76,223,105 (GRCm39) I164N probably benign Het
Bbs5 T A 2: 69,487,300 (GRCm39) N194K probably damaging Het
Bicra T C 7: 15,723,119 (GRCm39) T133A possibly damaging Het
Card6 G A 15: 5,128,367 (GRCm39) P1010S probably damaging Het
Ccdc18 T A 5: 108,339,790 (GRCm39) N778K probably benign Het
Cept1 T C 3: 106,412,594 (GRCm39) I240V possibly damaging Het
Crip3 A G 17: 46,741,962 (GRCm39) R150G probably damaging Het
Cyp2c50 A G 19: 40,085,299 (GRCm39) T320A probably benign Het
Dio2 G C 12: 90,696,607 (GRCm39) S127* probably null Het
Dnai3 T C 3: 145,801,161 (GRCm39) E99G possibly damaging Het
Dscam T C 16: 96,626,935 (GRCm39) S325G probably benign Het
Exosc4 A G 15: 76,211,813 (GRCm39) I41V probably benign Het
Glb1l3 C T 9: 26,739,720 (GRCm39) probably null Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm3072 T A 14: 41,345,510 (GRCm39) D89V unknown Het
Gosr2 T C 11: 103,577,508 (GRCm39) H79R probably damaging Het
Has2 T A 15: 56,531,660 (GRCm39) T352S probably damaging Het
Insig1 T A 5: 28,276,531 (GRCm39) C32* probably null Het
Klf9 A G 19: 23,119,314 (GRCm39) S66G probably damaging Het
Mfn1 T C 3: 32,623,665 (GRCm39) I263T probably damaging Het
Negr1 A G 3: 157,018,494 (GRCm39) T332A probably benign Het
Neo1 A G 9: 58,787,884 (GRCm39) S1417P possibly damaging Het
Or52ab4 T C 7: 102,987,945 (GRCm39) F228S probably benign Het
Or7e168 G A 9: 19,720,412 (GRCm39) S266N probably benign Het
Pcgf3 C A 5: 108,621,768 (GRCm39) H35Q probably damaging Het
Plppr5 A G 3: 117,465,639 (GRCm39) I297V probably benign Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Prx A T 7: 27,214,746 (GRCm39) Q85H probably damaging Het
Tex14 T G 11: 87,388,688 (GRCm39) M305R possibly damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Zfp619 G A 7: 39,186,954 (GRCm39) E995K probably damaging Het
Zfp90 A G 8: 107,142,379 (GRCm39) R4G probably damaging 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
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'- TGCAGGTCACCAGGTTTTACTC -3'
(R):5'- AGTGTAGCCTTCTGGGTAATTC -3'

Sequencing Primer
(F):5'- AGGTTTTACTCCTGCCATGTC -3'
(R):5'- TCGGCAGATAACAAATGGG -3'
Posted On 2018-06-06