Mutagenetix > Incidental Mutation

Incidental Mutation 'R7477:Mylk2'

579530

Institutional Source

Beutler Lab

Gene Symbol

Mylk2

Ensembl Gene

ENSMUSG00000027470

Gene Name

myosin, light polypeptide kinase 2, skeletal muscle

Synonyms

9830004H17Rik

MMRRC Submission

045551-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R7477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152753272-152764988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152762261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 511 (V511I)

Ref Sequence

ENSEMBL: ENSMUSP00000028970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028970]

AlphaFold

Q8VCR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028970
AA Change: V511I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: V511I

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	G	T	5: 35,749,447 (GRCm39)	E191*	probably null	Het
Adam26a	T	A	8: 44,022,107 (GRCm39)	E461V	probably damaging	Het
Adamtsl1	G	A	4: 86,333,888 (GRCm39)	R1539Q	probably damaging	Het
Adipor2	A	T	6: 119,338,883 (GRCm39)	H123Q	probably benign	Het
Akap13	C	T	7: 75,398,995 (GRCm39)	S2691L	probably benign	Het
Aldh1l1	T	C	6: 90,575,369 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,124 (GRCm39)	S909R	possibly damaging	Het
Bop1	T	C	15: 76,339,526 (GRCm39)	E273G	probably damaging	Het
Car1	G	A	3: 14,841,343 (GRCm39)	H97Y	probably damaging	Het
Casp14	T	C	10: 78,550,138 (GRCm39)	N170S	probably benign	Het
Ccdc158	A	T	5: 92,798,555 (GRCm39)	L382M	probably damaging	Het
Ccdc18	A	C	5: 108,368,716 (GRCm39)	Q1279H	probably damaging	Het
Cdh18	A	G	15: 23,410,811 (GRCm39)	N432S	probably benign	Het
Ctdp1	T	C	18: 80,483,929 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,916,208 (GRCm39)	I691T	probably damaging	Het
Dnah9	A	G	11: 65,883,557 (GRCm39)	I2562T	probably damaging	Het
Dsp	A	T	13: 38,356,839 (GRCm39)	I240F	probably damaging	Het
Ell	T	C	8: 71,037,868 (GRCm39)	S308P	probably benign	Het
Elmo1	A	G	13: 20,469,489 (GRCm39)	D26G		Het
Fam171a1	T	C	2: 3,226,676 (GRCm39)	V603A	probably benign	Het
Fam83e	G	A	7: 45,378,404 (GRCm39)	G476D	probably damaging	Het
Farp2	A	G	1: 93,508,750 (GRCm39)		probably null	Het
Fcer1a	C	T	1: 173,048,851 (GRCm39)		probably null	Het
Gpr179	G	T	11: 97,226,665 (GRCm39)	T1830K	possibly damaging	Het
Grin3a	G	A	4: 49,719,278 (GRCm39)	P823S	probably damaging	Het
Heatr4	T	A	12: 84,026,604 (GRCm39)	I218F	probably damaging	Het
Il36rn	T	A	2: 24,169,704 (GRCm39)	Y21*	probably null	Het
Jakmip1	A	G	5: 37,330,915 (GRCm39)	T532A	probably benign	Het
Klf11	A	G	12: 24,703,562 (GRCm39)	D16G	probably benign	Het
Lrp1	T	A	10: 127,404,789 (GRCm39)	I1971F	probably damaging	Het
Lrrc9	T	A	12: 72,550,301 (GRCm39)		probably null	Het
Lrrk2	C	T	15: 91,696,528 (GRCm39)	L2439F	probably damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mapk14	G	A	17: 28,964,052 (GRCm39)	D313N	probably damaging	Het
Max	A	T	12: 76,999,960 (GRCm39)	S52T	probably benign	Het
Mrpl23	A	G	7: 142,091,018 (GRCm39)	R80G	possibly damaging	Het
Muc5ac	C	A	7: 141,370,019 (GRCm39)	N3186K	possibly damaging	Het
Mypn	T	C	10: 62,961,500 (GRCm39)	M1031V	possibly damaging	Het
Nbeal1	A	G	1: 60,300,743 (GRCm39)	T1488A	probably benign	Het
Ncbp1	A	T	4: 46,157,897 (GRCm39)	E378D	probably damaging	Het
Nedd9	A	T	13: 41,471,956 (GRCm39)	D174E	probably benign	Het
Nid2	T	A	14: 19,856,041 (GRCm39)	D1255E	probably benign	Het
Nlrc3	A	G	16: 3,782,675 (GRCm39)	C261R	probably damaging	Het
Or5w22	A	G	2: 87,362,431 (GRCm39)	N18S	probably benign	Het
Pgam1	T	A	19: 41,905,255 (GRCm39)	H196Q	probably damaging	Het
Pja2	A	C	17: 64,616,640 (GRCm39)	V85G	possibly damaging	Het
Pkd2	G	A	5: 104,631,108 (GRCm39)	V511M	probably benign	Het
Ppp2cb	T	A	8: 34,105,502 (GRCm39)	S171T	probably benign	Het
Prkab2	T	C	3: 97,566,063 (GRCm39)	F45S	probably damaging	Het
Rabep2	A	T	7: 126,043,990 (GRCm39)		probably null	Het
Rnf41	T	A	10: 128,271,303 (GRCm39)	I71N	probably damaging	Het
Slc5a7	G	A	17: 54,588,787 (GRCm39)	P287S	probably damaging	Het
Smc6	A	G	12: 11,321,808 (GRCm39)	D25G	probably benign	Het
Sptb	A	T	12: 76,675,339 (GRCm39)	L225Q	probably damaging	Het
Tenm4	A	C	7: 96,495,015 (GRCm39)	I1148L	probably damaging	Het
Tnk2	C	A	16: 32,496,709 (GRCm39)		probably null	Het
Trank1	G	A	9: 111,194,025 (GRCm39)	S683N	probably benign	Het
Trp53bp1	A	C	2: 121,066,827 (GRCm39)	V633G	probably benign	Het
Ugt2a3	T	C	5: 87,484,479 (GRCm39)	K182E	possibly damaging	Het
Uncx	A	T	5: 139,533,017 (GRCm39)	T361S	probably benign	Het
Vmn2r11	A	T	5: 109,207,214 (GRCm39)	N35K	possibly damaging	Het
Vmn2r4	C	A	3: 64,305,850 (GRCm39)	R524L	probably benign	Het
Vmn2r5	C	T	3: 64,399,060 (GRCm39)	V640M	probably damaging	Het
Washc4	T	C	10: 83,410,307 (GRCm39)	Y632H	probably damaging	Het
Xkr6	T	C	14: 63,844,129 (GRCm39)	S51P	possibly damaging	Het
Zer1	C	A	2: 29,997,988 (GRCm39)	K408N	probably null	Het
Znhit2	A	G	19: 6,112,501 (GRCm39)		probably null	Het

Other mutations in Mylk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ATTCCACCCTGGGGCAGATC -3'
(R):5'- ACTCATTCTGGCACTGTGC -3'

Sequencing Primer
(F):5'- TTCACTGCAACCCTGGGAAG -3'
(R):5'- CAGAGGGCAGTGTGGTG -3'

Posted On

2019-10-07