Mutagenetix > Incidental Mutation

Incidental Mutation 'R3955:Lmod2'

310639

Institutional Source

Beutler Lab

Gene Symbol

Lmod2

Ensembl Gene

ENSMUSG00000029683

Gene Name

leiomodin 2 (cardiac)

Synonyms

C-Lmod

MMRRC Submission

040832-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R3955 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24597770-24605413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24603870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 282 (V282L)

Ref Sequence

ENSEMBL: ENSMUSP00000031694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031694]

AlphaFold

Q3UHZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000031694
AA Change: V282L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: V282L

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	6	153	9.7e-19	PFAM
PDB:1IO0\|A	202	360	5e-45	PDB
low complexity region	361	374	N/A	INTRINSIC
low complexity region	403	414	N/A	INTRINSIC
low complexity region	421	453	N/A	INTRINSIC
low complexity region	482	490	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene results in thin filaments in the heart, cardiac contractile dysfunction, abnormal myocardial fiber ultrastucture, dilated cardiomyopathy, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,834 (GRCm39)	T1008A	probably benign	Het
Abcc5	G	C	16: 20,224,293 (GRCm39)	H97D	probably damaging	Het
Acbd7	T	C	2: 3,337,250 (GRCm39)	S2P	probably benign	Het
Acta2	G	T	19: 34,229,126 (GRCm39)		probably benign	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Ajm1	G	T	2: 25,467,583 (GRCm39)	S776*	probably null	Het
Ccnq	C	A	11: 78,641,849 (GRCm39)	E214*	probably null	Het
Cd69	A	T	6: 129,245,343 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dscc1	T	C	15: 54,946,949 (GRCm39)	T259A	probably benign	Het
Dsg4	G	A	18: 20,582,432 (GRCm39)		probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Insyn1	A	T	9: 58,406,906 (GRCm39)	D272V	probably damaging	Het
Krt20	G	A	11: 99,323,037 (GRCm39)	Q262*	probably null	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lrrc49	A	G	9: 60,578,642 (GRCm39)	I228T	probably damaging	Het
Matn1	G	A	4: 130,678,726 (GRCm39)		probably null	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nmt2	A	G	2: 3,313,535 (GRCm39)	D132G	probably benign	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Obscn	G	A	11: 58,927,594 (GRCm39)	S6118F	probably damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or1j21	T	A	2: 36,683,565 (GRCm39)	L106M	probably benign	Het
Or4c12	T	A	2: 89,774,172 (GRCm39)	M96L	possibly damaging	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Plxnb3	T	C	X: 72,814,826 (GRCm39)	V1789A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Qrfprl	A	T	6: 65,430,092 (GRCm39)	I263L	possibly damaging	Het
Rab3gap1	A	G	1: 127,862,254 (GRCm39)	Q675R	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Sergef	T	A	7: 46,268,176 (GRCm39)	E210V	possibly damaging	Het
Sik3	C	A	9: 46,109,891 (GRCm39)	N541K	probably damaging	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Tbc1d14	G	A	5: 36,700,559 (GRCm39)	R270*	probably null	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tdp2	C	T	13: 25,020,082 (GRCm39)	T123I	probably benign	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Unc13b	A	G	4: 43,256,834 (GRCm39)	Y3962C	probably damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Zfp677	A	G	17: 21,618,079 (GRCm39)	K379E	possibly damaging	Het
Zfp865	T	A	7: 5,035,013 (GRCm39)	D999E	probably damaging	Het

Other mutations in Lmod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Lmod2	APN	6	24,598,051 (GRCm39)	missense	probably damaging	1.00
IGL01013:Lmod2	APN	6	24,604,134 (GRCm39)	missense	probably damaging	0.98
IGL02164:Lmod2	APN	6	24,603,909 (GRCm39)	missense	possibly damaging	0.89
IGL02328:Lmod2	APN	6	24,603,832 (GRCm39)	missense	probably benign	0.00
IGL02956:Lmod2	APN	6	24,603,631 (GRCm39)	missense	probably damaging	1.00
IGL03213:Lmod2	APN	6	24,603,615 (GRCm39)	missense	possibly damaging	0.88
IGL03351:Lmod2	APN	6	24,598,015 (GRCm39)	missense	probably benign	0.00
P0035:Lmod2	UTSW	6	24,597,885 (GRCm39)	missense	probably damaging	1.00
R1764:Lmod2	UTSW	6	24,603,376 (GRCm39)	missense	probably damaging	0.99
R3104:Lmod2	UTSW	6	24,604,471 (GRCm39)	missense	probably damaging	1.00
R4410:Lmod2	UTSW	6	24,604,629 (GRCm39)	missense	probably damaging	1.00
R4876:Lmod2	UTSW	6	24,604,278 (GRCm39)	missense	probably benign	0.06
R4957:Lmod2	UTSW	6	24,603,871 (GRCm39)	missense	possibly damaging	0.63
R5509:Lmod2	UTSW	6	24,603,888 (GRCm39)	missense	probably damaging	1.00
R5655:Lmod2	UTSW	6	24,603,853 (GRCm39)	missense	possibly damaging	0.65
R6114:Lmod2	UTSW	6	24,603,691 (GRCm39)	missense	probably damaging	1.00
R6462:Lmod2	UTSW	6	24,604,300 (GRCm39)	missense	probably benign	0.06
R6834:Lmod2	UTSW	6	24,597,782 (GRCm39)	start gained	probably benign
R6869:Lmod2	UTSW	6	24,604,126 (GRCm39)	missense	probably benign	0.06
R6909:Lmod2	UTSW	6	24,604,157 (GRCm39)	missense	probably benign	0.00
R6918:Lmod2	UTSW	6	24,603,594 (GRCm39)	missense	probably benign	0.23
R7352:Lmod2	UTSW	6	24,598,110 (GRCm39)	missense	possibly damaging	0.84
R7425:Lmod2	UTSW	6	24,603,475 (GRCm39)	missense	probably benign
R7476:Lmod2	UTSW	6	24,597,920 (GRCm39)	nonsense	probably null
R7986:Lmod2	UTSW	6	24,603,448 (GRCm39)	missense	possibly damaging	0.65
R8417:Lmod2	UTSW	6	24,603,384 (GRCm39)	missense	possibly damaging	0.71
R9063:Lmod2	UTSW	6	24,603,364 (GRCm39)	missense	probably benign	0.01
R9286:Lmod2	UTSW	6	24,603,712 (GRCm39)	missense	probably damaging	1.00
R9326:Lmod2	UTSW	6	24,597,999 (GRCm39)	missense	probably damaging	1.00
R9461:Lmod2	UTSW	6	24,603,568 (GRCm39)	missense	probably benign	0.01
R9716:Lmod2	UTSW	6	24,604,182 (GRCm39)	missense	possibly damaging	0.83
R9780:Lmod2	UTSW	6	24,604,233 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCACTGTTATTGAGGATGC -3'
(R):5'- CTCAGCAGCGTGGTATTCTC -3'

Sequencing Primer
(F):5'- TGACCCTGATACGACAGAAGTTAATC -3'
(R):5'- CTTTGAGCAGCTTGACAATTTCC -3'

Posted On

2015-04-29