Incidental Mutation 'R6730:Myoz2'
ID 530006
Institutional Source Beutler Lab
Gene Symbol Myoz2
Ensembl Gene ENSMUSG00000028116
Gene Name myozenin 2
Synonyms calsarcin-1, 1110012I24Rik, Fatz-2
MMRRC Submission 044848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R6730 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 122799855-122828649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122810276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 100 (G100C)
Ref Sequence ENSEMBL: ENSMUSP00000029761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029761] [ENSMUST00000141588]
AlphaFold Q9JJW5
Predicted Effect probably damaging
Transcript: ENSMUST00000029761
AA Change: G100C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029761
Gene: ENSMUSG00000028116
AA Change: G100C

DomainStartEndE-ValueType
Pfam:Calsarcin 1 264 1.3e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103761
Predicted Effect probably benign
Transcript: ENSMUST00000141588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200514
Meta Mutation Damage Score 0.1729 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mutants show an excess of skeletal muscle fibers and chronically activated hypertrophic gene program despite the absence of hypertrophy. However, stressed null mutants do form cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930455H04Rik T A 3: 116,777,124 (GRCm39) *59R probably null Het
Adam10 G T 9: 70,647,458 (GRCm39) probably null Het
Adam2 A T 14: 66,275,025 (GRCm39) N569K possibly damaging Het
Adam20 T C 8: 41,249,696 (GRCm39) V602A probably benign Het
Adgrb3 T C 1: 25,133,375 (GRCm39) Y1237C probably damaging Het
Ago3 T C 4: 126,265,338 (GRCm39) T318A probably null Het
Aknad1 G A 3: 108,659,655 (GRCm39) G223D possibly damaging Het
Camkv T C 9: 107,825,516 (GRCm39) S478P possibly damaging Het
Ccl27a T A 4: 41,773,342 (GRCm39) H39L probably damaging Het
Ccser2 C A 14: 36,601,043 (GRCm39) S447I probably damaging Het
Clvs2 A G 10: 33,404,517 (GRCm39) L233P probably damaging Het
Csn1s2b T A 5: 87,970,127 (GRCm39) H124Q probably benign Het
Dnhd1 T C 7: 105,353,082 (GRCm39) L2745P probably benign Het
Dync1i2 T A 2: 71,077,484 (GRCm39) F219L probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ephb6 C T 6: 41,594,308 (GRCm39) Q613* probably null Het
Erc2 A C 14: 27,620,524 (GRCm39) D50A possibly damaging Het
Fam149a T A 8: 45,834,211 (GRCm39) D196V probably damaging Het
Ficd T C 5: 113,876,773 (GRCm39) V316A probably damaging Het
Gstm6 T A 3: 107,850,041 (GRCm39) K18* probably null Het
Ighv1-62-1 A T 12: 115,350,512 (GRCm39) W52R probably benign Het
Klhl18 C T 9: 110,257,979 (GRCm39) C417Y probably damaging Het
Ly9 T A 1: 171,432,737 (GRCm39) Y92F probably benign Het
Mettl18 C T 1: 163,824,750 (GRCm39) T357I probably damaging Het
Or10a49 A T 7: 108,467,780 (GRCm39) F194I probably benign Het
Or4k47 A G 2: 111,452,080 (GRCm39) V113A probably damaging Het
Or7h8 T C 9: 20,123,798 (GRCm39) I51T probably benign Het
Pars2 C T 4: 106,510,628 (GRCm39) L128F probably damaging Het
Pcsk6 G T 7: 65,629,996 (GRCm39) R374L probably damaging Het
Ptpn3 T C 4: 57,270,088 (GRCm39) T25A probably benign Het
Rab11fip1 G A 8: 27,633,257 (GRCm39) P1150S probably damaging Het
Rabep1 A G 11: 70,831,212 (GRCm39) Q831R possibly damaging Het
Rad17 T C 13: 100,786,253 (GRCm39) probably benign Het
Rxfp1 T A 3: 79,557,898 (GRCm39) R527* probably null Het
Scnn1b C T 7: 121,502,100 (GRCm39) P253S probably damaging Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc2a7 T C 4: 150,242,605 (GRCm39) F231S probably damaging Het
Svil A G 18: 5,049,311 (GRCm39) N196S probably benign Het
Tent5c T A 3: 100,380,273 (GRCm39) N161I probably benign Het
Urb1 T C 16: 90,575,971 (GRCm39) S862G possibly damaging Het
Usp30 T C 5: 114,241,770 (GRCm39) S87P probably damaging Het
Vmn1r177 T A 7: 23,565,237 (GRCm39) H213L probably damaging Het
Vmn2r106 T A 17: 20,499,096 (GRCm39) I272L possibly damaging Het
Vmn2r120 T A 17: 57,832,012 (GRCm39) D259V probably benign Het
Other mutations in Myoz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Myoz2 APN 3 122,810,193 (GRCm39) splice site probably benign
IGL01417:Myoz2 APN 3 122,800,081 (GRCm39) missense possibly damaging 0.65
IGL01645:Myoz2 APN 3 122,827,881 (GRCm39) missense probably damaging 1.00
IGL01759:Myoz2 APN 3 122,807,430 (GRCm39) missense possibly damaging 0.95
IGL03167:Myoz2 APN 3 122,800,139 (GRCm39) nonsense probably null
R1384:Myoz2 UTSW 3 122,819,765 (GRCm39) missense probably damaging 1.00
R1789:Myoz2 UTSW 3 122,819,776 (GRCm39) missense probably damaging 1.00
R1874:Myoz2 UTSW 3 122,819,765 (GRCm39) missense probably damaging 1.00
R1875:Myoz2 UTSW 3 122,819,765 (GRCm39) missense probably damaging 1.00
R2137:Myoz2 UTSW 3 122,827,861 (GRCm39) missense probably benign 0.00
R3881:Myoz2 UTSW 3 122,807,369 (GRCm39) missense probably damaging 0.98
R8265:Myoz2 UTSW 3 122,800,172 (GRCm39) missense probably benign 0.15
R8548:Myoz2 UTSW 3 122,827,916 (GRCm39) start codon destroyed possibly damaging 0.51
R8778:Myoz2 UTSW 3 122,800,156 (GRCm39) missense possibly damaging 0.55
R9021:Myoz2 UTSW 3 122,807,284 (GRCm39) utr 3 prime probably benign
R9775:Myoz2 UTSW 3 122,807,399 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAATAGCATGGACCATCTGAAAC -3'
(R):5'- CCGTGTAAATCCCTGAGGTC -3'

Sequencing Primer
(F):5'- TGGACCATCTGAAACAACATATAAC -3'
(R):5'- TAAATCCCTGAGGTCCCGGG -3'
Posted On 2018-08-01