Mutagenetix > Incidental Mutation

Incidental Mutation 'R2879:Myl2'

260222

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

040467-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122239014-122251535 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 122242748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014080] [ENSMUST00000058960] [ENSMUST00000111750] [ENSMUST00000111751] [ENSMUST00000139213] [ENSMUST00000146733] [ENSMUST00000152389] [ENSMUST00000150535] [ENSMUST00000155612]

AlphaFold

P51667

Predicted Effect

probably benign
Transcript: ENSMUST00000014080

SMART Domains

Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
EFh	28	56	2.81e-5	SMART
EFh	98	126	4.53e0	SMART
EFh	134	162	3.97e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000058960

SMART Domains

Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036

Domain	Start	End	E-Value	Type
coiled coil region	140	158	N/A	INTRINSIC
coiled coil region	209	285	N/A	INTRINSIC
low complexity region	308	318	N/A	INTRINSIC
coiled coil region	393	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111750

SMART Domains

Protein: ENSMUSP00000107379
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
EFh	28	56	2.81e-5	SMART
EFh	98	126	4.53e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111751

SMART Domains

Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000126006

SMART Domains

Protein: ENSMUSP00000123261
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000139213

SMART Domains

Protein: ENSMUSP00000114156
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
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

silent
Transcript: ENSMUST00000146733

SMART Domains

Protein: ENSMUSP00000142592
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000152744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147178

Predicted Effect

probably benign
Transcript: ENSMUST00000152389

Predicted Effect

probably benign
Transcript: ENSMUST00000153816

SMART Domains

Protein: ENSMUSP00000119627
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	62	90	2.4e-8	PFAM
Pfam:EF-hand_6	62	91	7.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150535

SMART Domains

Protein: ENSMUSP00000120274
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000155612

SMART Domains

Protein: ENSMUSP00000120105
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
EFh	9	37	2.81e-5	SMART
EFh	79	107	4.53e0	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Acte1	T	A	7: 143,447,800 (GRCm39)	Y214*	probably null	Het
Akap9	A	G	5: 4,026,353 (GRCm39)		probably benign	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Ano6	T	A	15: 95,841,308 (GRCm39)	C468*	probably null	Het
Arhgef10l	G	T	4: 140,242,598 (GRCm39)	H890Q	probably benign	Het
Ccnj	T	A	19: 40,833,158 (GRCm39)	L112Q	probably damaging	Het
Chaf1a	T	C	17: 56,351,114 (GRCm39)		probably null	Het
Chchd4	A	G	6: 91,442,200 (GRCm39)	S73P	probably damaging	Het
Chd3	T	C	11: 69,254,924 (GRCm39)	K139E	possibly damaging	Het
Cyp2b13	T	G	7: 25,785,456 (GRCm39)		probably null	Het
Dagla	T	C	19: 10,248,448 (GRCm39)	I71V	possibly damaging	Het
Epor	A	T	9: 21,870,936 (GRCm39)	W315R	probably damaging	Het
Etv1	T	A	12: 38,833,809 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,202,314 (GRCm39)	C1280S	probably damaging	Het
Fbxo2	G	C	4: 148,250,468 (GRCm39)	R269P	probably damaging	Het
Fer1l4	A	T	2: 155,894,120 (GRCm39)	L61Q	probably damaging	Het
Ggnbp2	C	T	11: 84,723,797 (GRCm39)		probably null	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Ibsp	G	A	5: 104,458,260 (GRCm39)	E266K	possibly damaging	Het
Lamb3	T	A	1: 193,013,092 (GRCm39)	M439K	possibly damaging	Het
Lnx1	C	T	5: 74,780,784 (GRCm39)	V246M	probably benign	Het
Lrrc32	A	G	7: 98,148,984 (GRCm39)	Q588R	probably benign	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Med13	C	T	11: 86,189,988 (GRCm39)	A974T	possibly damaging	Het
Mogat2	A	T	7: 98,871,573 (GRCm39)	I246N	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or1p1c	T	A	11: 74,161,049 (GRCm39)	V278D	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Pik3r2	A	G	8: 71,225,029 (GRCm39)	Y145H	probably benign	Het
Plg	A	G	17: 12,622,987 (GRCm39)	E509G	possibly damaging	Het
Pnkp	T	A	7: 44,508,102 (GRCm39)	S142T	probably damaging	Het
Ros1	C	T	10: 52,048,936 (GRCm39)		probably null	Het
Sbno1	A	G	5: 124,526,635 (GRCm39)	M960T	probably damaging	Het
Smad1	T	C	8: 80,080,084 (GRCm39)		probably null	Het
Ssc5d	G	A	7: 4,939,906 (GRCm39)		probably null	Het
Tfcp2	C	T	15: 100,449,201 (GRCm39)		probably null	Het
Tmem121	A	G	12: 113,152,028 (GRCm39)	Y82C	probably damaging	Het
Tmem131	T	C	1: 36,880,788 (GRCm39)	I161V	possibly damaging	Het
Tpp2	T	A	1: 44,010,783 (GRCm39)	F523L	probably damaging	Het
Ttn	C	T	2: 76,601,849 (GRCm39)		silent	Het
Ttpal	A	G	2: 163,457,503 (GRCm39)		probably null	Het
Vdr	T	A	15: 97,757,008 (GRCm39)	Y288F	probably benign	Het
Wipf2	C	T	11: 98,783,480 (GRCm39)	A302V	probably benign	Het
Zfp346	T	G	13: 55,253,163 (GRCm39)	C3G	possibly damaging	Het

Other mutations in Myl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Myl2	APN	5	122,244,767 (GRCm39)	missense	probably benign
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
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'- GCAACTTGCTTGAAGCTCC -3'
(R):5'- CTTTGCCCTCGGGATCAAAC -3'

Sequencing Primer
(F):5'- GCTTGAAGCTCCTCCTCACAG -3'
(R):5'- CAAACACCTTGAATGCGTTGAG -3'

Posted On

2015-01-23