Incidental Mutation 'R8054:Mcu'
ID619272
Institutional Source Beutler Lab
Gene Symbol Mcu
Ensembl Gene ENSMUSG00000009647
Gene Namemitochondrial calcium uniporter
Synonyms2010012O16Rik, Ccdc109a, D130073L02Rik
Accession Numbers

Genbank: NM_001033259; MGI: 3026965

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8054 (G1)
Quality Score225.009
Status Not validated
Chromosome10
Chromosomal Location59446984-59616692 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 59454995 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 121 (T121M)
Ref Sequence ENSEMBL: ENSMUSP00000009791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009791] [ENSMUST00000020312]
Predicted Effect probably damaging
Transcript: ENSMUST00000009791
AA Change: T121M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009791
Gene: ENSMUSG00000009647
AA Change: T121M

DomainStartEndE-ValueType
Pfam:DUF607 1 171 3.7e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000020312
AA Change: T270M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
AA Change: T270M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,824,272 N399S probably benign Het
Akap9 T C 5: 4,038,707 probably null Het
Ankrd17 A G 5: 90,291,055 I483T probably benign Het
Arl13b T C 16: 62,806,597 D247G probably benign Het
Brca2 A G 5: 150,536,504 I415V probably benign Het
Brpf3 C A 17: 28,836,597 S1173R probably damaging Het
Ccar1 A G 10: 62,747,436 L966P unknown Het
Ccdc129 A T 6: 55,976,439 K913N probably damaging Het
Cfap61 A G 2: 145,973,518 N249S probably damaging Het
Clip4 T A 17: 71,834,273 Y541N possibly damaging Het
Csn2 C T 5: 87,698,027 probably null Het
Cyp2c23 T G 19: 44,007,116 E404A probably damaging Het
Cyp2e1 A G 7: 140,770,958 E281G possibly damaging Het
Cyp2r1 T A 7: 114,552,084 probably null Het
D430041D05Rik T A 2: 104,155,045 I1226F possibly damaging Het
Dbx1 A T 7: 49,632,750 W236R probably damaging Het
Dcp2 T G 18: 44,405,707 N251K probably benign Het
Disp1 A T 1: 183,088,248 Y869* probably null Het
Ehhadh A G 16: 21,773,493 probably null Het
Eml3 A T 19: 8,939,050 T670S possibly damaging Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Fbn1 A T 2: 125,346,018 D1530E possibly damaging Het
Gm11639 A G 11: 104,730,400 N822D probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,817 probably benign Het
Hsd3b3 A T 3: 98,742,015 Y331N probably damaging Het
Ino80d T C 1: 63,058,678 R791G possibly damaging Het
Jade2 T C 11: 51,818,614 R523G probably benign Het
Kmt2d A T 15: 98,843,925 D4451E unknown Het
Lax1 T C 1: 133,683,607 T76A probably benign Het
Mepce T A 5: 137,784,742 K441* probably null Het
Mettl21e C A 1: 44,206,655 V144F probably damaging Het
Muc6 T A 7: 141,645,481 S1049C probably damaging Het
Myh14 C T 7: 44,625,127 V1246M probably damaging Het
Myo3a A T 2: 22,574,317 Q1128L probably benign Het
Nat8f2 T C 6: 85,867,772 S203G probably benign Het
Npas2 A G 1: 39,287,571 T46A possibly damaging Het
Nup133 T C 8: 123,949,217 probably benign Het
Olfr11 A T 13: 21,638,949 D191E probably benign Het
Olfr1375 T A 11: 51,048,263 I52N probably benign Het
Olfr213 A G 6: 116,540,999 H182R probably damaging Het
Olfr44 C A 9: 39,484,737 C172F probably damaging Het
Olfr998 A T 2: 85,590,840 Q100L probably damaging Het
Oplah C T 15: 76,306,257 R102H probably benign Het
Pam A T 1: 97,840,389 D705E probably damaging Het
Papd5 T A 8: 88,247,558 I294N probably damaging Het
Pkd1l3 C G 8: 109,646,376 N1284K probably damaging Het
Plekhg2 A G 7: 28,365,316 F407S probably damaging Het
Pygl A G 12: 70,227,339 probably null Het
Rcc2 G A 4: 140,702,275 C40Y probably benign Het
Rhobtb1 A G 10: 69,248,890 N37S probably damaging Het
Sema6a T A 18: 47,291,905 D213V probably damaging Het
Skint11 A T 4: 114,244,609 Q273L possibly damaging Het
Skint7 A T 4: 111,982,229 H240L probably benign Het
Slc12a2 C T 18: 57,921,872 Q862* probably null Het
Smox A G 2: 131,522,180 S468G probably benign Het
Spc25 A G 2: 69,204,913 S50P probably damaging Het
Spert A G 14: 75,583,899 Y129H probably benign Het
Srrm1 A T 4: 135,325,015 S683T unknown Het
Syne1 T C 10: 5,270,970 E3103G probably benign Het
Tmem123 T C 9: 7,791,063 S122P possibly damaging Het
Trav18 A T 14: 53,831,115 K4I probably benign Het
Triml1 T C 8: 43,130,383 S394G probably damaging Het
Ubr4 A T 4: 139,468,102 S1212C unknown Het
Usp34 G A 11: 23,361,295 R442Q Het
Usp43 G A 11: 67,891,458 P378L probably damaging Het
Vmn1r212 A G 13: 22,883,765 F133L probably benign Het
Vmn1r213 A G 13: 23,011,740 I164M possibly damaging Het
Vmn2r19 C T 6: 123,316,039 P347S probably damaging Het
Zfp106 A T 2: 120,524,519 V1280E possibly damaging Het
Zfp317 T C 9: 19,641,969 S13P probably benign Het
Zfp608 C A 18: 54,899,546 A441S probably benign Het
Zufsp T C 10: 33,940,252 D232G probably damaging Het
Other mutations in Mcu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Mcu APN 10 59467644 missense probably damaging 1.00
IGL03074:Mcu APN 10 59467758 missense probably damaging 0.99
R0201:Mcu UTSW 10 59456677 missense probably damaging 1.00
R0445:Mcu UTSW 10 59456645 splice site probably benign
R1256:Mcu UTSW 10 59454968 missense probably damaging 1.00
R1497:Mcu UTSW 10 59448848 missense probably damaging 1.00
R2322:Mcu UTSW 10 59454944 critical splice donor site probably null
R2404:Mcu UTSW 10 59467704 missense probably damaging 1.00
R4517:Mcu UTSW 10 59467634 missense probably damaging 1.00
R4666:Mcu UTSW 10 59456699 missense probably damaging 1.00
R4821:Mcu UTSW 10 59467689 missense probably damaging 0.99
R5940:Mcu UTSW 10 59456732 missense possibly damaging 0.94
R6949:Mcu UTSW 10 59456744 missense possibly damaging 0.94
RF007:Mcu UTSW 10 59491116 missense probably benign 0.00
Z1177:Mcu UTSW 10 59456771 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CGCAATCTCAATTCTGGAAGC -3'
(R):5'- ACTGATGTTGTCCACGTGTG -3'

Sequencing Primer
(F):5'- CTCAATTCTGGAAGCAACTCTG -3'
(R):5'- GTTGTCCACGTGTGCCCAATAG -3'
Posted On2020-01-23