Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Lmod2'

570643

Institutional Source

Beutler Lab

Gene Symbol

Lmod2

Ensembl Gene

ENSMUSG00000029683

Gene Name

leiomodin 2 (cardiac)

Synonyms

C-Lmod

MMRRC Submission

045438-MU

Accession Numbers

Essential gene?

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

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24597770-24605413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24598110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 77 (S77P)

Ref Sequence

ENSEMBL: ENSMUSP00000031694 (fasta)

Gene Model

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

AlphaFold

Q3UHZ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031694
AA Change: S77P

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: S77P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,508,028 (GRCm39)	W1124*	probably null	Het
Acap3	G	A	4: 155,990,168 (GRCm39)	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796 (GRCm39)	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,429,998 (GRCm39)	L860P	probably damaging	Het
Arap3	G	A	18: 38,106,331 (GRCm39)	T1504I	probably benign	Het
Atad5	T	C	11: 79,994,169 (GRCm39)		probably null	Het
Atp8a2	A	G	14: 60,028,653 (GRCm39)	V938A	probably benign	Het
AW551984	T	C	9: 39,504,221 (GRCm39)	M582V	probably benign	Het
Axdnd1	C	T	1: 156,210,047 (GRCm39)	V408I	possibly damaging	Het
Babam2	T	A	5: 32,164,594 (GRCm39)	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,261,436 (GRCm39)	M20V	probably benign	Het
Bex6	A	G	16: 32,005,034 (GRCm39)		probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Cad	T	A	5: 31,215,422 (GRCm39)	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,736,260 (GRCm39)	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,491,124 (GRCm39)	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,265,745 (GRCm39)	F1396I	probably damaging	Het
Cep170	A	T	1: 176,597,423 (GRCm39)	D373E	probably benign	Het
Chrna4	A	T	2: 180,679,267 (GRCm39)	I60N	probably damaging	Het
Cntn2	T	C	1: 132,450,137 (GRCm39)	T586A	probably benign	Het
Csmd2	G	T	4: 128,451,429 (GRCm39)	V3396F		Het
Cyp3a44	T	A	5: 145,740,498 (GRCm39)	L47F	probably benign	Het
D7Ertd443e	A	T	7: 133,951,123 (GRCm39)	H183Q	probably benign	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dgat1	G	T	15: 76,387,024 (GRCm39)	C396*	probably null	Het
Dmpk	A	G	7: 18,819,997 (GRCm39)	S83G	probably damaging	Het
Dsc2	T	G	18: 20,168,392 (GRCm39)	D689A	probably benign	Het
Eppk1	A	T	15: 75,990,618 (GRCm39)	W2088R	probably benign	Het
Exph5	A	C	9: 53,287,022 (GRCm39)	I1368L	probably benign	Het
Fadd	T	C	7: 144,134,396 (GRCm39)	K163R	probably benign	Het
Fam149a	T	A	8: 45,794,034 (GRCm39)	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,125,448 (GRCm39)	M449K	probably benign	Het
Gad1	T	C	2: 70,425,094 (GRCm39)	F463L	probably benign	Het
Gad2	T	A	2: 22,513,835 (GRCm39)	F91I	probably benign	Het
Gcc2	T	C	10: 58,116,520 (GRCm39)		probably null	Het
Gjd3	A	C	11: 102,691,278 (GRCm39)	C242G	probably damaging	Het
Gkn1	T	C	6: 87,325,100 (GRCm39)	E103G	possibly damaging	Het
Gm867	T	C	10: 75,775,670 (GRCm39)	T39A	probably benign	Het
Gpr108	A	G	17: 57,543,944 (GRCm39)	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,219,289 (GRCm39)	V508G	probably damaging	Het
Grm1	A	T	10: 10,595,237 (GRCm39)	I797N	probably damaging	Het
Ice1	G	A	13: 70,754,221 (GRCm39)	Q622*	probably null	Het
Kcnb2	T	A	1: 15,780,835 (GRCm39)	V569E	probably benign	Het
Ksr2	T	G	5: 117,827,706 (GRCm39)	I495S	probably benign	Het
Litaf	A	T	16: 10,781,217 (GRCm39)	M94K	probably damaging	Het
Lrp2	G	T	2: 69,302,741 (GRCm39)	S2996Y	probably benign	Het
Ltf	T	C	9: 110,857,518 (GRCm39)	S436P	probably benign	Het
Map4k4	T	A	1: 40,001,387 (GRCm39)	V58D	unknown	Het
Mapkapk3	C	A	9: 107,134,269 (GRCm39)	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,335,674 (GRCm39)	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,224,737 (GRCm39)	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,817,063 (GRCm39)	M248V	probably benign	Het
Olig2	A	G	16: 91,023,577 (GRCm39)	D97G	probably benign	Het
Or4a2	C	A	2: 89,248,311 (GRCm39)	G149W	probably damaging	Het
Or4a39	T	C	2: 89,236,806 (GRCm39)	M206V	probably benign	Het
Or4p8	T	A	2: 88,727,062 (GRCm39)	N293I	probably damaging	Het
Or5b95	A	G	19: 12,658,115 (GRCm39)	I214M	possibly damaging	Het
Or5g23	T	C	2: 85,439,128 (GRCm39)	N42S	probably damaging	Het
Or6f2	A	T	7: 139,756,438 (GRCm39)	Y135F	probably damaging	Het
Pcdha11	T	A	18: 37,139,898 (GRCm39)	V509E	probably damaging	Het
Pglyrp3	G	A	3: 91,921,947 (GRCm39)	W5*	probably null	Het
Phf14	A	T	6: 11,961,637 (GRCm39)	N425Y	probably damaging	Het
Phf3	G	T	1: 30,843,407 (GRCm39)	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Pnma2	A	G	14: 67,153,870 (GRCm39)	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,008,091 (GRCm39)	T782I	probably damaging	Het
Pramel52-ps	A	T	5: 94,531,743 (GRCm39)	N209I	probably damaging	Het
Prickle2	T	G	6: 92,387,871 (GRCm39)	E566D	probably benign	Het
Pvr	A	G	7: 19,644,541 (GRCm39)	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,997,842 (GRCm39)		probably benign	Het
Rapgef4	T	A	2: 72,010,435 (GRCm39)	I331N	probably damaging	Het
Reg3g	C	T	6: 78,443,842 (GRCm39)	W122*	probably null	Het
Rigi	T	A	4: 40,239,668 (GRCm39)	Q10L	probably benign	Het
Rlbp1	A	T	7: 79,031,428 (GRCm39)	I100N	probably damaging	Het
Rnf213	T	A	11: 119,334,405 (GRCm39)	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Rtl6	G	T	15: 84,441,181 (GRCm39)	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,785,053 (GRCm39)	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,356,045 (GRCm39)	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,925,214 (GRCm39)	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,688,865 (GRCm39)	T392A	probably damaging	Het
Spaca7	T	A	8: 12,635,742 (GRCm39)	I86K	probably benign	Het
Syt10	G	T	15: 89,698,659 (GRCm39)	D228E	probably benign	Het
Tbx3	T	A	5: 119,815,625 (GRCm39)	N308K	probably benign	Het
Telo2	A	G	17: 25,321,043 (GRCm39)	V724A	probably damaging	Het
Tfip11	T	C	5: 112,481,134 (GRCm39)	V370A	probably benign	Het
Thbs3	A	G	3: 89,132,587 (GRCm39)	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,644,401 (GRCm39)	I148V	not run	Het
Trbv14	T	A	6: 41,112,429 (GRCm39)	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,962 (GRCm39)	V2973A	probably damaging	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Ubr2	G	A	17: 47,241,352 (GRCm39)	T1734I	probably benign	Het
Ush2a	G	T	1: 188,198,321 (GRCm39)	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,841,525 (GRCm39)	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,747,728 (GRCm39)	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,155,244 (GRCm39)	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,854,493 (GRCm39)	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,253,874 (GRCm39)	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,275,916 (GRCm39)	M87T	probably benign	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
R3955:Lmod2	UTSW	6	24,603,870 (GRCm39)	missense	probably benign	0.02
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
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'- CCATTGATGAGGATGAACTTCTG -3'
(R):5'- GGAGTGAGACCATTTTGGCC -3'

Sequencing Primer
(F):5'- ATGAGGATGAACTTCTGGCCTCC -3'
(R):5'- GACCATTTTGGCCTAGAAAATATTTC -3'

Posted On

2019-09-13