Incidental Mutation 'R6114:Lmod2'
ID 485009
Institutional Source Beutler Lab
Gene Symbol Lmod2
Ensembl Gene ENSMUSG00000029683
Gene Name leiomodin 2 (cardiac)
Synonyms C-Lmod
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 24597770-24605413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24603691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 222 (E222G)
Ref Sequence ENSEMBL: ENSMUSP00000031694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031694]
AlphaFold Q3UHZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000031694
AA Change: E222G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: E222G

DomainStartEndE-ValueType
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 0.2875 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging Het
Other mutations in Lmod2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCAACAGCGAAGTCTCTGAG -3'
(R):5'- GCTGGTAATGTGCTCGTTAACC -3'

Sequencing Primer
(F):5'- TCTCTGAGGAGGTGTGTACAGAAG -3'
(R):5'- CGTTAACCTTGAGCATGTCTG -3'
Posted On 2017-08-16