Incidental Mutation 'R2852:Mrln'
ID 252325
Institutional Source Beutler Lab
Gene Symbol Mrln
Ensembl Gene ENSMUSG00000019933
Gene Name myoregulin
Synonyms MLN, 2310015B20Rik, Linc-RAM
MMRRC Submission 040445-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.315) question?
Stock # R2852 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 70040494-70055541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70055456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 44 (I44T)
Ref Sequence ENSEMBL: ENSMUSP00000150523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020090] [ENSMUST00000190199]
AlphaFold Q9CV60
Predicted Effect possibly damaging
Transcript: ENSMUST00000020090
AA Change: I44T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020090
Gene: ENSMUSG00000019933
AA Change: I44T

DomainStartEndE-ValueType
transmembrane domain 95 114 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000020090
AA Change: I44T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189468
Predicted Effect probably benign
Transcript: ENSMUST00000190199
Meta Mutation Damage Score 0.0787 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: This gene encodes a small peptide that shares structural similarity to the small peptides sarcolipin and phospholamban, which are key regulators of sarcoplasmic reticulum Ca(2+)-ATPases (SERCAs). This protein is thought to have a similar function to these peptides, regulating Ca(2+) reuptake in the sarcoplasmic reticulum by inhibiting the Ca(2+) pump activity of SERCAs. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show improved exercise performance and enhanced Ca2+ handling in skeletal muscle. Mice homozygous for another knock-out exhibit reduced myofiber numbers and muscle regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Bank1 A T 3: 135,948,701 (GRCm39) S159T possibly damaging Het
Catsperd A G 17: 56,967,169 (GRCm39) probably null Het
Cblc A G 7: 19,514,889 (GRCm39) probably null Het
Cfap54 T C 10: 92,776,017 (GRCm39) Y48C probably damaging Het
Chrng A G 1: 87,134,428 (GRCm39) I156M probably benign Het
Dennd5a A T 7: 109,532,878 (GRCm39) N297K probably damaging Het
Depdc5 A G 5: 33,081,515 (GRCm39) E559G probably damaging Het
Dnai4 A G 4: 102,953,858 (GRCm39) S114P probably benign Het
Dzip1 A C 14: 119,159,857 (GRCm39) M117R possibly damaging Het
Ednrb G T 14: 104,059,110 (GRCm39) S305R probably benign Het
Egflam A T 15: 7,249,182 (GRCm39) W879R probably damaging Het
Ehbp1l1 T A 19: 5,766,515 (GRCm39) D332V probably damaging Het
Far1 T C 7: 113,152,944 (GRCm39) Y351H possibly damaging Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Kap T C 6: 133,827,057 (GRCm39) K92E probably benign Het
Kcnv2 T C 19: 27,300,496 (GRCm39) Y116H probably benign Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Krtap13 T C 16: 88,548,524 (GRCm39) probably benign Het
Man2a1 A G 17: 65,020,596 (GRCm39) K791E probably benign Het
Map4k4 T A 1: 40,039,915 (GRCm39) probably benign Het
Mdc1 T A 17: 36,159,902 (GRCm39) V670D probably benign Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mycbp2 A T 14: 103,381,769 (GRCm39) F3724I probably damaging Het
Npsr1 A G 9: 24,221,301 (GRCm39) probably benign Het
Oosp3 T A 19: 11,676,896 (GRCm39) probably null Het
Pah T A 10: 87,403,327 (GRCm39) L131Q probably damaging Het
Pde6h G A 6: 136,940,206 (GRCm39) C64Y probably damaging Het
Pdzd7 C G 19: 45,016,113 (GRCm39) V1003L probably benign Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Prkdc T C 16: 15,470,416 (GRCm39) probably null Het
Rnf168 A G 16: 32,101,192 (GRCm39) E124G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Spata1 A G 3: 146,193,295 (GRCm39) L96P possibly damaging Het
Stk11ip A G 1: 75,505,911 (GRCm39) probably benign Het
Stx5a T C 19: 8,732,476 (GRCm39) probably benign Het
Tek A G 4: 94,708,461 (GRCm39) T340A probably benign Het
Tmeff1 T A 4: 48,604,692 (GRCm39) probably null Het
Vmn2r85 T A 10: 130,255,035 (GRCm39) M550L probably benign Het
Zfp14 A G 7: 29,738,596 (GRCm39) Y130H probably benign Het
Zfp653 A T 9: 21,968,862 (GRCm39) D426E probably benign Het
Zfyve28 G A 5: 34,354,006 (GRCm39) P834L probably damaging Het
Zkscan16 A G 4: 58,957,364 (GRCm39) T549A possibly damaging Het
Predicted Primers PCR Primer
(F):5'- CCTGGAAGGCTTGTCTTCAC -3'
(R):5'- CCCATTTGGAAAACGGTAAAGAAC -3'

Sequencing Primer
(F):5'- GGAAGGCTTGTCTTCACCCAAAG -3'
(R):5'- TGGAAAACGGTAAAGAACTAAGAAAC -3'
Posted On 2014-12-04