Incidental Mutation 'R6949:Mcu'
ID 543252
Institutional Source Beutler Lab
Gene Symbol Mcu
Ensembl Gene ENSMUSG00000009647
Gene Name mitochondrial calcium uniporter
Synonyms D130073L02Rik, Ccdc109a, 2010012O16Rik
MMRRC Submission 045061-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6949 (G1)
Quality Score 167.009
Status Validated
Chromosome 10
Chromosomal Location 59282806-59452514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59292566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 38 (T38P)
Ref Sequence ENSEMBL: ENSMUSP00000009791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009791] [ENSMUST00000020312]
AlphaFold Q3UMR5
Predicted Effect possibly damaging
Transcript: ENSMUST00000009791
AA Change: T38P

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000009791
Gene: ENSMUSG00000009647
AA Change: T38P

DomainStartEndE-ValueType
Pfam:DUF607 1 171 3.7e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000020312
AA Change: T187P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
AA Change: T187P

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 0.1967 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 95.1%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 G T 3: 126,804,533 (GRCm39) D679E probably benign Het
Catsper4 A T 4: 133,953,058 (GRCm39) Y96N probably benign Het
Cnksr3 T C 10: 7,110,757 (GRCm39) I35V probably benign Het
Col16a1 A G 4: 129,953,116 (GRCm39) E424G probably damaging Het
Ctsc G T 7: 87,930,666 (GRCm39) G82W probably damaging Het
Cxcr4 T C 1: 128,517,352 (GRCm39) D101G probably benign Het
Dapk1 T A 13: 60,884,138 (GRCm39) N635K probably benign Het
Dop1a T C 9: 86,382,913 (GRCm39) M282T probably damaging Het
Dpysl4 G A 7: 138,671,915 (GRCm39) E172K probably damaging Het
Efcab3 A C 11: 104,799,896 (GRCm39) T2931P probably damaging Het
Eif2ak3 T C 6: 70,855,829 (GRCm39) I211T probably damaging Het
Fbxw22 A T 9: 109,211,144 (GRCm39) W386R probably benign Het
Garin1b T A 6: 29,323,905 (GRCm39) I210N probably damaging Het
Grm7 A G 6: 110,623,265 (GRCm39) K146R probably benign Het
Grm7 C A 6: 111,472,690 (GRCm39) P843Q probably damaging Het
Gtf2e2 A G 8: 34,248,726 (GRCm39) D171G probably damaging Het
Hyal5 T C 6: 24,876,303 (GRCm39) S59P probably benign Het
Il7r T A 15: 9,508,090 (GRCm39) T411S probably damaging Het
Kcp T A 6: 29,484,611 (GRCm39) probably null Het
Krcc1 T C 6: 71,261,135 (GRCm39) Y56H probably benign Het
Lmo2 T A 2: 103,801,018 (GRCm39) M1K probably null Het
Lrit3 G A 3: 129,582,934 (GRCm39) T351I probably damaging Het
Mylk T A 16: 34,820,688 (GRCm39) I89N probably damaging Het
Ncoa2 A T 1: 13,226,725 (GRCm39) C996S possibly damaging Het
Npr2 A G 4: 43,640,597 (GRCm39) E350G probably damaging Het
Or5an1b T C 19: 12,299,792 (GRCm39) Y133C probably damaging Het
Pald1 T C 10: 61,156,996 (GRCm39) E818G probably benign Het
Phf19 G T 2: 34,794,143 (GRCm39) Q210K probably damaging Het
Pomgnt1 G A 4: 116,011,351 (GRCm39) V250M probably damaging Het
Ppm1l T A 3: 69,456,736 (GRCm39) C218S possibly damaging Het
Prkdc G A 16: 15,617,853 (GRCm39) R3228H probably benign Het
Pros1 A T 16: 62,744,938 (GRCm39) T518S probably benign Het
Rdh8 T A 9: 20,734,003 (GRCm39) V63D probably benign Het
Rexo1 A G 10: 80,386,470 (GRCm39) V196A possibly damaging Het
Scgb2b20 A T 7: 33,065,724 (GRCm39) M1K probably null Het
Scn11a A G 9: 119,594,580 (GRCm39) V1271A probably benign Het
Serac1 C A 17: 6,102,090 (GRCm39) D395Y probably damaging Het
Syne2 A G 12: 76,012,771 (GRCm39) D2655G probably benign Het
Tm4sf19 T C 16: 32,224,676 (GRCm39) V8A probably benign Het
Usp3 A T 9: 66,427,972 (GRCm39) D334E probably benign Het
Uty C T Y: 1,240,000 (GRCm39) probably null Het
Vmn2r7 T C 3: 64,598,542 (GRCm39) N672D probably damaging Het
Vmn2r96 T A 17: 18,818,100 (GRCm39) L751H probably damaging Het
Wnk2 T C 13: 49,254,616 (GRCm39) S300G probably damaging Het
Zp3r G T 1: 130,505,632 (GRCm39) S508R probably benign 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
R2404:Mcu UTSW 10 59,303,526 (GRCm39) missense probably damaging 1.00
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
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'- TTGTATTGAAGTGAGACACAGAAGCC -3'
(R):5'- TACTTATGTCGGTGCCCAGG -3'

Sequencing Primer
(F):5'- CACAGAAGCCATGTGTACTGG -3'
(R):5'- GGACAACCTGTGGAAGTCACTTC -3'
Posted On 2018-11-28