Incidental Mutation 'R6913:Mylk2'
ID 539147
Institutional Source Beutler Lab
Gene Symbol Mylk2
Ensembl Gene ENSMUSG00000027470
Gene Name myosin, light polypeptide kinase 2, skeletal muscle
Synonyms 9830004H17Rik
MMRRC Submission 045034-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R6913 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 152753272-152764988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 152755610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 258 (G258E)
Ref Sequence ENSEMBL: ENSMUSP00000028970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028970]
AlphaFold Q8VCR8
Predicted Effect possibly damaging
Transcript: ENSMUST00000028970
AA Change: G258E

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: G258E

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
Meta Mutation Damage Score 0.0902 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 97% (74/76)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,197,494 (GRCm39) I619N possibly damaging Het
Accsl T C 2: 93,696,488 (GRCm39) K41E possibly damaging Het
Actr6 T C 10: 89,562,558 (GRCm39) E107G probably damaging Het
Adam7 T A 14: 68,771,100 (GRCm39) M9L probably benign Het
Adamts12 T A 15: 11,215,778 (GRCm39) H266Q probably damaging Het
Adamts16 A G 13: 70,877,017 (GRCm39) F1208S possibly damaging Het
Ankrd11 T C 8: 123,621,650 (GRCm39) D734G probably benign Het
Ap1b1 T C 11: 4,962,972 (GRCm39) V43A possibly damaging Het
Asnsd1 A G 1: 53,387,390 (GRCm39) V79A probably damaging Het
Aste1 T A 9: 105,274,607 (GRCm39) S221R probably benign Het
Ccndbp1 G A 2: 120,840,347 (GRCm39) E94K probably benign Het
Cdc34 G A 10: 79,520,937 (GRCm39) probably null Het
Cdh16 T C 8: 105,348,896 (GRCm39) D67G probably benign Het
Chd8 T C 14: 52,451,951 (GRCm39) E1348G probably damaging Het
Chl1 C T 6: 103,642,909 (GRCm39) Q216* probably null Het
Cse1l G A 2: 166,771,797 (GRCm39) V353I possibly damaging Het
Ctbp2 G A 7: 132,616,455 (GRCm39) S160F possibly damaging Het
Cyp1a1 C A 9: 57,607,576 (GRCm39) T68K probably damaging Het
Dennd11 T C 6: 40,383,851 (GRCm39) N397S possibly damaging Het
Dlgap2 T A 8: 14,828,374 (GRCm39) M594K probably benign Het
Dnah6 C T 6: 73,189,505 (GRCm39) E48K probably benign Het
Dock2 A G 11: 34,647,049 (GRCm39) V35A probably damaging Het
Edem2 A T 2: 155,568,594 (GRCm39) S73R probably damaging Het
Eps15 T C 4: 109,218,427 (GRCm39) V430A probably benign Het
Frem2 T C 3: 53,424,242 (GRCm39) N3065S probably damaging Het
Gal3st4 A T 5: 138,269,090 (GRCm39) S123R possibly damaging Het
Garnl3 T A 2: 32,876,841 (GRCm39) I937F possibly damaging Het
Gfod2 C T 8: 106,443,995 (GRCm39) V183M possibly damaging Het
Glipr1l1 T C 10: 111,898,339 (GRCm39) probably null Het
Gm7145 T G 1: 117,913,711 (GRCm39) C198G probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
H2-Eb2 G A 17: 34,552,523 (GRCm39) A123T possibly damaging Het
Ighv1-55 T C 12: 115,172,129 (GRCm39) I7V probably benign Het
Itpripl2 G T 7: 118,090,332 (GRCm39) P76T possibly damaging Het
Kat6a C A 8: 23,393,215 (GRCm39) A231E possibly damaging Het
Lipo3 C T 19: 33,757,705 (GRCm39) V255I probably benign Het
Mamstr A T 7: 45,292,662 (GRCm39) M141L probably benign Het
Med13 A G 11: 86,210,702 (GRCm39) V480A probably benign Het
Mei1 A G 15: 81,973,810 (GRCm39) N523S probably benign Het
Mill2 A G 7: 18,590,351 (GRCm39) T144A probably null Het
Muc16 C A 9: 18,553,959 (GRCm39) L4111F unknown Het
Myom2 T G 8: 15,115,710 (GRCm39) S42A probably benign Het
Nab1 C A 1: 52,503,995 (GRCm39) G401C possibly damaging Het
Nifk T C 1: 118,260,592 (GRCm39) V244A possibly damaging Het
Nipsnap2 C A 5: 129,830,357 (GRCm39) Q224K probably benign Het
Nop16 T G 13: 54,737,553 (GRCm39) K47Q probably damaging Het
Nup153 A T 13: 46,853,192 (GRCm39) S548R probably damaging Het
Or2at1 A C 7: 99,416,924 (GRCm39) D185A probably damaging Het
Or4g17 A G 2: 111,209,347 (GRCm39) M1V probably null Het
Or5b111 A G 19: 13,290,998 (GRCm39) I217T probably benign Het
Pard6g G A 18: 80,160,534 (GRCm39) V216I possibly damaging Het
Pcdh20 C T 14: 88,706,038 (GRCm39) V421I probably benign Het
Pcif1 G A 2: 164,726,224 (GRCm39) probably null Het
Pde11a C A 2: 76,168,084 (GRCm39) V290F probably damaging Het
Pisd T C 5: 32,894,773 (GRCm39) Y511C probably damaging Het
Polg A T 7: 79,110,405 (GRCm39) D276E probably damaging Het
Polr3b T C 10: 84,549,496 (GRCm39) V906A probably damaging Het
Prkcg C T 7: 3,362,335 (GRCm39) P270S probably benign Het
Rapgef2 T A 3: 78,993,281 (GRCm39) I884F probably damaging Het
Rpl13 C A 8: 123,830,014 (GRCm39) N113K possibly damaging Het
Rxra T A 2: 27,631,186 (GRCm39) I139N probably damaging Het
Sf3b5 T A 10: 12,884,487 (GRCm39) C41S probably benign Het
Spata31e3 G T 13: 50,399,293 (GRCm39) P1011H probably damaging Het
Stk24 C T 14: 121,540,221 (GRCm39) R126Q probably damaging Het
Taar8b T C 10: 23,967,963 (GRCm39) D77G possibly damaging Het
Tbc1d1 T A 5: 64,468,452 (GRCm39) C566S probably benign Het
Tenm3 A T 8: 48,751,972 (GRCm39) M948K probably damaging Het
Thbs4 T A 13: 92,894,444 (GRCm39) Q693L possibly damaging Het
Tnfrsf26 A T 7: 143,172,126 (GRCm39) C61* probably null Het
Trp63 A G 16: 25,707,918 (GRCm39) E636G probably damaging Het
Try5 T C 6: 41,288,266 (GRCm39) Y121C probably damaging Het
Ttn G T 2: 76,660,755 (GRCm39) probably benign Het
Vamp1 T A 6: 125,195,908 (GRCm39) V55D probably damaging Het
Vmn2r117 T C 17: 23,698,537 (GRCm39) N12S probably damaging Het
Vmn2r90 G A 17: 17,924,323 (GRCm39) G41S probably damaging Het
Zfp462 T A 4: 55,007,775 (GRCm39) D71E probably benign 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
IGL02243:Mylk2 APN 2 152,762,473 (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
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
Predicted Primers PCR Primer
(F):5'- CTTTACAGGGGTGTCTGTGACC -3'
(R):5'- GAAATACTACCCGGTGTCCTG -3'

Sequencing Primer
(F):5'- GTGTCTGTGACCCCTGACC -3'
(R):5'- CTGTGACATTTGCACCAGGGAG -3'
Posted On 2018-11-06