Mutagenetix > Incidental Mutation

Incidental Mutation 'R4580:Myl2'

343580

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

041599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122239014-122251535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122244801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 157 (H157L)

Ref Sequence

ENSEMBL: ENSMUSP00000107380 (fasta)

Gene Model

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

AlphaFold

P51667

Predicted Effect

probably benign
Transcript: ENSMUST00000014080
AA Change: H157L

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936
AA Change: H157L

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
AA Change: H157L

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936
AA Change: H157L

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 benign
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

noncoding transcript
Transcript: ENSMUST00000152744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147178

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: 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: 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

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,237 (GRCm39)	Y114C	probably damaging	Het
Abcc2	T	C	19: 43,799,558 (GRCm39)	S556P	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp6v1g1	A	G	4: 63,468,269 (GRCm39)	N91D	probably benign	Het
BC005537	G	T	13: 24,987,394 (GRCm39)	A11S	probably benign	Het
Bltp1	A	T	3: 37,084,174 (GRCm39)	T3864S	probably benign	Het
Bub1	A	C	2: 127,671,596 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cdh15	T	C	8: 123,591,897 (GRCm39)	L594P	probably damaging	Het
Cobll1	C	T	2: 64,981,417 (GRCm39)	V90I	probably benign	Het
Cog2	T	C	8: 125,271,875 (GRCm39)	V463A	probably benign	Het
Cpeb4	T	A	11: 31,877,757 (GRCm39)		probably null	Het
Creb5	G	A	6: 53,581,519 (GRCm39)	M172I	possibly damaging	Het
Cyp4a32	T	C	4: 115,460,126 (GRCm39)		silent	Het
Dnah8	T	A	17: 30,881,026 (GRCm39)	S588T	probably benign	Het
Ecpas	T	C	4: 58,840,751 (GRCm39)	Y669C	probably damaging	Het
Esd	T	C	14: 74,979,517 (GRCm39)	V120A	possibly damaging	Het
Fbxo5	T	C	10: 5,755,255 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,432 (GRCm39)	D430G	probably benign	Het
Golga4	C	A	9: 118,386,327 (GRCm39)	Q1150K	probably benign	Het
Grb14	T	C	2: 64,783,947 (GRCm39)	N60S	probably benign	Het
Grk4	A	G	5: 34,818,325 (GRCm39)	N2S	probably damaging	Het
Henmt1	T	A	3: 108,850,081 (GRCm39)	S21R	probably benign	Het
Ifngr2	A	G	16: 91,354,906 (GRCm39)	K113E	probably benign	Het
Ighv15-2	T	A	12: 114,528,590 (GRCm39)	T15S	probably benign	Het
Kif24	A	G	4: 41,395,287 (GRCm39)	S529P	probably damaging	Het
Large2	T	C	2: 92,200,957 (GRCm39)	N51S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,599 (GRCm39)	E773G	possibly damaging	Het
Lrfn3	A	T	7: 30,059,467 (GRCm39)	C253S	probably damaging	Het
Maea	T	C	5: 33,517,832 (GRCm39)	V130A	possibly damaging	Het
Marchf11	A	T	15: 26,311,189 (GRCm39)	I222F	probably damaging	Het
Mast4	A	T	13: 102,873,766 (GRCm39)	Y1699*	probably null	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mpzl3	T	A	9: 44,979,529 (GRCm39)	V160E	possibly damaging	Het
Myh15	T	C	16: 48,885,388 (GRCm39)	S88P	possibly damaging	Het
Myo9b	A	G	8: 71,767,779 (GRCm39)	N284S	probably damaging	Het
Nphp1	A	G	2: 127,610,089 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,609,323 (GRCm39)		probably null	Het
Nt5c3b	G	T	11: 100,323,885 (GRCm39)	F134L	probably damaging	Het
Or4c120	T	A	2: 89,001,544 (GRCm39)	Q4L	probably benign	Het
Otog	A	G	7: 45,937,225 (GRCm39)	R1645G	possibly damaging	Het
Pask	T	C	1: 93,249,830 (GRCm39)	I523M	probably benign	Het
Pcdhb7	T	A	18: 37,475,188 (GRCm39)	L108Q	probably damaging	Het
Pdp2	C	A	8: 105,321,576 (GRCm39)	T475K	probably damaging	Het
Pgbd1	G	C	13: 21,612,499 (GRCm39)	P113A	probably benign	Het
Plk5	C	T	10: 80,196,301 (GRCm39)	H291Y	possibly damaging	Het
Pmpca	G	T	2: 26,283,347 (GRCm39)	S382I	probably damaging	Het
Prl3b1	A	G	13: 27,433,450 (GRCm39)	T202A	possibly damaging	Het
Ptgs2	A	T	1: 149,979,845 (GRCm39)	T317S	possibly damaging	Het
Ptprc	C	T	1: 137,998,989 (GRCm39)	M1020I	probably benign	Het
Rhbdl3	T	C	11: 80,244,471 (GRCm39)	Y393H	probably damaging	Het
Sema3e	T	C	5: 14,283,717 (GRCm39)	L482P	probably damaging	Het
Setd2	C	T	9: 110,403,311 (GRCm39)	T1984I	probably benign	Het
Slc17a1	T	C	13: 24,071,960 (GRCm39)	Y393H	probably damaging	Het
Slc9a3	C	T	13: 74,307,005 (GRCm39)	R377*	probably null	Het
Slitrk3	A	G	3: 72,958,539 (GRCm39)	S78P	probably damaging	Het
Smim35	G	T	9: 45,155,426 (GRCm39)		probably null	Het
Specc1	T	A	11: 62,110,157 (GRCm39)	V1054E	probably damaging	Het
Tbc1d4	T	C	14: 101,696,219 (GRCm39)	T847A	probably benign	Het
Tcf7l2	G	A	19: 55,907,468 (GRCm39)	G343R	probably damaging	Het
Tex36	A	C	7: 133,189,111 (GRCm39)	Y154D	possibly damaging	Het
Topaz1	T	A	9: 122,576,580 (GRCm39)	M57K	probably null	Het
Trav6-4	T	C	14: 53,692,156 (GRCm39)	Y85H	probably damaging	Het
Trim30d	A	G	7: 104,121,765 (GRCm39)	Y327H	possibly damaging	Het
Ttn	A	G	2: 76,781,740 (GRCm39)	V1056A	probably benign	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Vmn1r59	A	T	7: 5,457,136 (GRCm39)	M208K	probably damaging	Het
Vmn2r25	T	C	6: 123,799,982 (GRCm39)	T787A	possibly damaging	Het
Vps39	A	T	2: 120,169,814 (GRCm39)	I246N	probably benign	Het
Xab2	T	C	8: 3,660,162 (GRCm39)	D855G	probably damaging	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Ythdc2	T	A	18: 44,991,265 (GRCm39)	C758S	possibly damaging	Het
Zfp62	A	G	11: 49,107,099 (GRCm39)	I397V	possibly damaging	Het
Zscan4d	A	G	7: 10,896,435 (GRCm39)	S312P	probably benign	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
R2879:Myl2	UTSW	5	122,242,748 (GRCm39)	critical splice donor site	probably null
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'- TAACTTTTGGGCCTGCTGAC -3'
(R):5'- GAACCCAAATACTTTGTGACTTTGG -3'

Sequencing Primer
(F):5'- GACAGCAGTCACAGCCTG -3'
(R):5'- CTTTGGCTACTTAGAGCCAAATGAGC -3'

Posted On

2015-09-24