Incidental Mutation 'IGL02243:Mylk2'
ID 286075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylk2
Ensembl Gene ENSMUSG00000027470
Gene Name myosin, light polypeptide kinase 2, skeletal muscle
Synonyms 9830004H17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # IGL02243
Quality Score
Status
Chromosome 2
Chromosomal Location 152753272-152764988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152762473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 554 (H554R)
Ref Sequence ENSEMBL: ENSMUSP00000028970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028970]
AlphaFold Q8VCR8
Predicted Effect probably damaging
Transcript: ENSMUST00000028970
AA Change: H554R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: H554R

DomainStartEndE-ValueType
low complexity region 90 122 N/A INTRINSIC
low complexity region 142 157 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
low complexity region 278 285 N/A INTRINSIC
S_TKc 302 557 6.08e-87 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Mylk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Mylk2 APN 2 152,757,134 (GRCm39) missense probably benign 0.20
IGL02097:Mylk2 APN 2 152,757,056 (GRCm39) missense probably damaging 0.98
IGL02158:Mylk2 APN 2 152,761,077 (GRCm39) missense probably damaging 1.00
IGL02189:Mylk2 APN 2 152,757,074 (GRCm39) missense probably damaging 1.00
IGL02716:Mylk2 APN 2 152,764,073 (GRCm39) makesense probably null
IGL02946:Mylk2 APN 2 152,761,130 (GRCm39) nonsense probably null
IGL03105:Mylk2 APN 2 152,759,279 (GRCm39) missense possibly damaging 0.94
R1184:Mylk2 UTSW 2 152,755,661 (GRCm39) critical splice donor site probably null
R1443:Mylk2 UTSW 2 152,761,336 (GRCm39) missense probably damaging 1.00
R1957:Mylk2 UTSW 2 152,759,527 (GRCm39) missense possibly damaging 0.86
R2496:Mylk2 UTSW 2 152,755,588 (GRCm39) missense probably damaging 1.00
R2870:Mylk2 UTSW 2 152,761,268 (GRCm39) missense probably damaging 1.00
R2870:Mylk2 UTSW 2 152,761,268 (GRCm39) missense probably damaging 1.00
R3081:Mylk2 UTSW 2 152,761,274 (GRCm39) missense probably benign 0.31
R4510:Mylk2 UTSW 2 152,759,330 (GRCm39) missense probably damaging 1.00
R4511:Mylk2 UTSW 2 152,759,330 (GRCm39) missense probably damaging 1.00
R4600:Mylk2 UTSW 2 152,759,476 (GRCm39) missense probably damaging 1.00
R4633:Mylk2 UTSW 2 152,759,335 (GRCm39) missense probably benign 0.00
R4890:Mylk2 UTSW 2 152,762,274 (GRCm39) missense possibly damaging 0.88
R5267:Mylk2 UTSW 2 152,755,469 (GRCm39) missense probably benign
R5430:Mylk2 UTSW 2 152,759,468 (GRCm39) missense probably damaging 1.00
R5447:Mylk2 UTSW 2 152,754,430 (GRCm39) missense probably damaging 0.96
R6167:Mylk2 UTSW 2 152,757,673 (GRCm39) splice site probably null
R6327:Mylk2 UTSW 2 152,755,613 (GRCm39) missense possibly damaging 0.77
R6391:Mylk2 UTSW 2 152,759,315 (GRCm39) missense probably damaging 1.00
R6913:Mylk2 UTSW 2 152,755,610 (GRCm39) missense possibly damaging 0.76
R7066:Mylk2 UTSW 2 152,753,588 (GRCm39) splice site probably null
R7092:Mylk2 UTSW 2 152,757,110 (GRCm39) missense probably benign 0.21
R7403:Mylk2 UTSW 2 152,759,261 (GRCm39) missense probably damaging 1.00
R7442:Mylk2 UTSW 2 152,753,346 (GRCm39) start gained probably benign
R7443:Mylk2 UTSW 2 152,753,346 (GRCm39) start gained probably benign
R7453:Mylk2 UTSW 2 152,754,353 (GRCm39) missense probably damaging 1.00
R7477:Mylk2 UTSW 2 152,762,261 (GRCm39) missense probably damaging 1.00
R7529:Mylk2 UTSW 2 152,757,624 (GRCm39) missense probably damaging 1.00
R8029:Mylk2 UTSW 2 152,762,219 (GRCm39) missense probably damaging 1.00
R9339:Mylk2 UTSW 2 152,755,370 (GRCm39) missense probably damaging 1.00
R9462:Mylk2 UTSW 2 152,761,373 (GRCm39) missense probably damaging 1.00
R9525:Mylk2 UTSW 2 152,759,552 (GRCm39) missense probably damaging 0.99
Z1177:Mylk2 UTSW 2 152,762,250 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16