Incidental Mutation 'R2404:Mcu'
ID 248868
Institutional Source Beutler Lab
Gene Symbol Mcu
Ensembl Gene ENSMUSG00000009647
Gene Name mitochondrial calcium uniporter
Synonyms D130073L02Rik, Ccdc109a, 2010012O16Rik
MMRRC Submission 040370-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2404 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 59282806-59452514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59303526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 104 (S104P)
Ref Sequence ENSEMBL: ENSMUSP00000020312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020312]
AlphaFold Q3UMR5
Predicted Effect probably damaging
Transcript: ENSMUST00000020312
AA Change: S104P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
AA Change: S104P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 66 77 N/A INTRINSIC
Pfam:MCU 114 319 3.5e-78 PFAM
Meta Mutation Damage Score 0.4437 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.2%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired calcium-induced permeability transition pore opening, decreased body size and weight, decreased exercise endurance and decreased grip strength. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,923 (GRCm39) T98A possibly damaging Het
Aifm2 A G 10: 61,563,974 (GRCm39) I161V probably benign Het
Arhgef26 T C 3: 62,336,336 (GRCm39) M625T possibly damaging Het
Atp9a T A 2: 168,517,283 (GRCm39) probably null Het
Avpr1a T C 10: 122,285,115 (GRCm39) F136L possibly damaging Het
Bcas3 T C 11: 85,245,715 (GRCm39) probably benign Het
Bnc1 A T 7: 81,618,463 (GRCm39) H867Q probably benign Het
Cdh12 C T 15: 21,537,720 (GRCm39) T407I probably damaging Het
Chd5 C T 4: 152,451,791 (GRCm39) T701M probably damaging Het
Dhx57 A G 17: 80,561,733 (GRCm39) V927A probably damaging Het
Dnah2 A G 11: 69,328,047 (GRCm39) F3353L probably damaging Het
Ect2 G A 3: 27,185,999 (GRCm39) P495S probably benign Het
Egfl7 G A 2: 26,479,162 (GRCm39) E25K possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hbs1l A T 10: 21,171,946 (GRCm39) probably benign Het
Insrr C T 3: 87,709,974 (GRCm39) T309I possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif12 A C 4: 63,088,790 (GRCm39) L170R probably damaging Het
Krt90 A G 15: 101,463,105 (GRCm39) probably null Het
Mical3 G A 6: 120,936,789 (GRCm39) P374S probably benign Het
Ncam2 A T 16: 81,287,128 (GRCm39) probably benign Het
Or12e9 A G 2: 87,202,568 (GRCm39) I231V probably benign Het
Or2t47 A T 11: 58,442,546 (GRCm39) I173N probably damaging Het
Or2w1b T C 13: 21,300,012 (GRCm39) L50P probably damaging Het
Or5k17 G A 16: 58,745,998 (GRCm39) S312L probably benign Het
Otud7a A G 7: 63,346,899 (GRCm39) S158G probably benign Het
Phlpp1 C T 1: 106,100,569 (GRCm39) T279M probably benign Het
Pkhd1l1 T G 15: 44,414,216 (GRCm39) W2828G probably damaging Het
Pnma8a A T 7: 16,694,316 (GRCm39) N57I probably damaging Het
Ppp4r4 A G 12: 103,547,749 (GRCm39) probably null Het
Ptprq T C 10: 107,522,460 (GRCm39) Y531C probably damaging Het
Rai1 A G 11: 60,080,750 (GRCm39) T1605A probably benign Het
Satb2 T C 1: 56,987,267 (GRCm39) Y106C probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc19a3 T A 1: 83,000,756 (GRCm39) H87L probably benign Het
Slc4a7 G T 14: 14,733,733 (GRCm38) V54L probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spen T C 4: 141,205,216 (GRCm39) N1137S unknown Het
Spice1 T C 16: 44,186,989 (GRCm39) I162T probably benign Het
Spmip1 G A 6: 29,473,390 (GRCm39) R173Q probably benign Het
Sqor A T 2: 122,649,943 (GRCm39) T396S probably benign Het
Tshz3 A T 7: 36,469,805 (GRCm39) Q598L probably damaging Het
Ttc13 C T 8: 125,405,736 (GRCm39) probably benign Het
Ubxn2a T C 12: 4,933,851 (GRCm39) T187A probably benign Het
Usp28 T C 9: 48,948,558 (GRCm39) probably null Het
Zc3h12a T C 4: 125,013,316 (GRCm39) Y516C probably damaging Het
Zfp616 A C 11: 73,975,682 (GRCm39) K650N probably damaging Het
Other mutations in Mcu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Mcu APN 10 59,303,466 (GRCm39) missense probably damaging 1.00
IGL03074:Mcu APN 10 59,303,580 (GRCm39) missense probably damaging 0.99
R0201:Mcu UTSW 10 59,292,499 (GRCm39) missense probably damaging 1.00
R0445:Mcu UTSW 10 59,292,467 (GRCm39) splice site probably benign
R1256:Mcu UTSW 10 59,290,790 (GRCm39) missense probably damaging 1.00
R1497:Mcu UTSW 10 59,284,670 (GRCm39) missense probably damaging 1.00
R2322:Mcu UTSW 10 59,290,766 (GRCm39) critical splice donor site probably null
R4517:Mcu UTSW 10 59,303,456 (GRCm39) missense probably damaging 1.00
R4666:Mcu UTSW 10 59,292,521 (GRCm39) missense probably damaging 1.00
R4821:Mcu UTSW 10 59,303,511 (GRCm39) missense probably damaging 0.99
R5940:Mcu UTSW 10 59,292,554 (GRCm39) missense possibly damaging 0.94
R6949:Mcu UTSW 10 59,292,566 (GRCm39) missense possibly damaging 0.94
R8054:Mcu UTSW 10 59,290,817 (GRCm39) missense probably damaging 1.00
R8701:Mcu UTSW 10 59,303,475 (GRCm39) missense probably damaging 1.00
R8810:Mcu UTSW 10 59,303,535 (GRCm39) nonsense probably null
R8893:Mcu UTSW 10 59,287,078 (GRCm39) missense probably benign 0.41
RF007:Mcu UTSW 10 59,326,938 (GRCm39) missense probably benign 0.00
Z1177:Mcu UTSW 10 59,292,593 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTCTTCCATGCTTGCAAACC -3'
(R):5'- TTGAATGAGCCTGTTCCCAG -3'

Sequencing Primer
(F):5'- GTCTTCCATGCTTGCAAACCAAAAC -3'
(R):5'- GAATGAGCCTGTTCCCAGATTAACTC -3'
Posted On 2014-11-11