Incidental Mutation 'R8548:Myoz2'
ID 659731
Institutional Source Beutler Lab
Gene Symbol Myoz2
Ensembl Gene ENSMUSG00000028116
Gene Name myozenin 2
Synonyms calsarcin-1, 1110012I24Rik, Fatz-2
MMRRC Submission 068513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R8548 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 122799855-122828649 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 122827916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000029761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029761] [ENSMUST00000141588]
AlphaFold Q9JJW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000029761
AA Change: M1L

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029761
Gene: ENSMUSG00000028116
AA Change: M1L

DomainStartEndE-ValueType
Pfam:Calsarcin 1 264 1.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141588
AA Change: M1L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A T 5: 121,658,165 (GRCm39) L376Q probably damaging Het
Akirin1 A G 4: 123,631,831 (GRCm39) M179T possibly damaging Het
Ap5b1 G T 19: 5,621,123 (GRCm39) V848L possibly damaging Het
Apoa2 T A 1: 171,053,798 (GRCm39) M91K probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cdc20 A C 4: 118,293,535 (GRCm39) S160A possibly damaging Het
Cftr G T 6: 18,273,698 (GRCm39) V839L possibly damaging Het
Ctf1 A T 7: 127,316,564 (GRCm39) H171L probably benign Het
Dmac2 T A 7: 25,324,217 (GRCm39) M225K probably damaging Het
Dmbx1 A T 4: 115,777,512 (GRCm39) V112E probably damaging Het
Eloa T C 4: 135,732,988 (GRCm39) K754R probably damaging Het
Ern2 G A 7: 121,777,062 (GRCm39) T286I probably damaging Het
Fam135b T C 15: 71,334,659 (GRCm39) D845G probably damaging Het
Fbxl6 T A 15: 76,421,542 (GRCm39) M232L possibly damaging Het
Gpr171 A T 3: 59,005,400 (GRCm39) I125K probably damaging Het
Hoxa2 G A 6: 52,140,098 (GRCm39) T296I probably damaging Het
Hspa8 A G 9: 40,713,767 (GRCm39) M87V probably benign Het
Ilkap G T 1: 91,318,882 (GRCm39) D31E possibly damaging Het
Ints9 T C 14: 65,269,770 (GRCm39) S487P probably benign Het
Macc1 T A 12: 119,414,091 (GRCm39) S756T probably benign Het
Map2 A G 1: 66,452,499 (GRCm39) D545G probably damaging Het
Mapkbp1 A G 2: 119,854,572 (GRCm39) N1390D probably benign Het
Mgat5 G A 1: 127,248,409 (GRCm39) V104M possibly damaging Het
Nmt1 A G 11: 102,934,052 (GRCm39) K64E possibly damaging Het
Nr6a1 C A 2: 38,619,550 (GRCm39) Q448H probably damaging Het
Nr6a1 T G 2: 38,619,551 (GRCm39) Q448P probably damaging Het
Odf2 T C 2: 29,783,526 (GRCm39) probably null Het
Or8g37 T A 9: 39,731,537 (GRCm39) C201S probably benign Het
Osbpl6 A G 2: 76,409,566 (GRCm39) N476S possibly damaging Het
Pclo A G 5: 14,732,268 (GRCm39) probably null Het
Plxnd1 C T 6: 115,934,558 (GRCm39) D1792N probably damaging Het
Prdm11 C T 2: 92,843,103 (GRCm39) V119M probably damaging Het
Prss23 A G 7: 89,159,416 (GRCm39) F218L probably benign Het
Rflnb A G 11: 75,913,047 (GRCm39) Y114H probably damaging Het
Skor2 T A 18: 76,946,581 (GRCm39) I101N unknown Het
Sp8 A C 12: 118,812,910 (GRCm39) Y255S possibly damaging Het
Srfbp1 G A 18: 52,621,463 (GRCm39) V175I probably benign Het
Stxbp5 C T 10: 9,693,050 (GRCm39) D359N probably null Het
Thnsl1 A G 2: 21,217,733 (GRCm39) I496V possibly damaging Het
Usp32 G A 11: 84,908,653 (GRCm39) P1018S possibly damaging Het
Usp7 A T 16: 8,529,939 (GRCm39) V142E possibly damaging 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
R6730:Myoz2 UTSW 3 122,810,276 (GRCm39) missense probably damaging 0.98
R8265:Myoz2 UTSW 3 122,800,172 (GRCm39) missense probably benign 0.15
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'- CCATAGGCTTCTCTACAGCG -3'
(R):5'- ATAGGCATGTGCAGTGTAGAC -3'

Sequencing Primer
(F):5'- TAGGCTTCTCTACAGCGACCAC -3'
(R):5'- CATGTGCAGTGTAGACAGACAAGC -3'
Posted On 2021-01-18