Incidental Mutation 'IGL03343:Micu2'
ID 417309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Micu2
Ensembl Gene ENSMUSG00000021973
Gene Name mitochondrial calcium uptake 2
Synonyms 4833427E09Rik, 1110008L20Rik, Efha1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03343
Quality Score
Status
Chromosome 14
Chromosomal Location 58153718-58236716 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58154768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 419 (V419A)
Ref Sequence ENSEMBL: ENSMUSP00000022543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022543]
AlphaFold Q8CD10
Predicted Effect probably benign
Transcript: ENSMUST00000022543
AA Change: V419A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000022543
Gene: ENSMUSG00000021973
AA Change: V419A

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
low complexity region 35 50 N/A INTRINSIC
EFh 173 201 1.15e0 SMART
EFh 363 391 1.12e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225961
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit an enlarged heart left atrium along with delayed calcium reuptake and decreased relaxation rates by cardiomyocytes, and develop abdominal aortic aneurysms with spontaneous rupture following angiotensin II treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,725,064 (GRCm39) H795R probably damaging Het
Adgrl2 A T 3: 148,565,016 (GRCm39) I188K probably damaging Het
Adgrv1 A G 13: 81,431,507 (GRCm39) Y5974H probably damaging Het
Angpt4 A G 2: 151,778,623 (GRCm39) T336A probably damaging Het
Arhgap30 C A 1: 171,236,662 (GRCm39) T1012N probably damaging Het
Asl A T 5: 130,040,908 (GRCm39) Y178N probably damaging Het
Brd1 C A 15: 88,591,454 (GRCm39) L714F possibly damaging Het
Ccdc47 A G 11: 106,095,788 (GRCm39) S303P probably damaging Het
Cdcp3 T A 7: 130,848,420 (GRCm39) I858N probably damaging Het
Cdk16 A G X: 20,561,998 (GRCm39) K264E probably damaging Het
Cenpc1 A T 5: 86,164,181 (GRCm39) F813L probably damaging Het
Cfp A C X: 20,794,248 (GRCm39) F291C possibly damaging Het
Chordc1 T G 9: 18,223,762 (GRCm39) F276V probably damaging Het
Clic4 C T 4: 134,945,889 (GRCm39) R176H possibly damaging Het
Fcer1a T G 1: 173,053,040 (GRCm39) N52T possibly damaging Het
Fndc7 A T 3: 108,774,624 (GRCm39) C545S probably damaging Het
Frem2 T C 3: 53,559,674 (GRCm39) D1611G probably damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gga3 A T 11: 115,483,312 (GRCm39) N82K probably damaging Het
Gm43638 G A 5: 87,608,484 (GRCm39) P452S possibly damaging Het
Gpn1 T C 5: 31,662,309 (GRCm39) S244P probably damaging Het
Hspa12a T C 19: 58,787,828 (GRCm39) S665G probably benign Het
Htt A G 5: 34,983,385 (GRCm39) I995V probably benign Het
Iars1 A T 13: 49,878,223 (GRCm39) I916L probably benign Het
Ice1 C A 13: 70,751,048 (GRCm39) L1679F probably damaging Het
Inpp1 A T 1: 52,838,486 (GRCm39) D54E probably damaging Het
Irf2bpl T C 12: 86,929,713 (GRCm39) E320G possibly damaging Het
Itprid1 T G 6: 55,945,569 (GRCm39) D763E probably damaging Het
Kcnn2 T C 18: 45,810,026 (GRCm39) V421A probably damaging Het
Nek9 C T 12: 85,350,383 (GRCm39) C897Y probably damaging Het
Ofcc1 A C 13: 40,226,140 (GRCm39) H797Q probably benign Het
Or12d17 G A 17: 37,777,300 (GRCm39) D68N probably damaging Het
Or2y16 C A 11: 49,335,070 (GRCm39) H131N probably damaging Het
Or5m12 T C 2: 85,735,285 (GRCm39) T38A probably benign Het
Or6c69c T G 10: 129,911,125 (GRCm39) L282R probably damaging Het
Pakap C T 4: 57,688,502 (GRCm39) T115M probably damaging Het
Papss1 G A 3: 131,288,950 (GRCm39) G151S probably benign Het
Plxnb1 A G 9: 108,943,780 (GRCm39) T1956A probably damaging Het
Pomt1 A G 2: 32,143,724 (GRCm39) probably benign Het
Ppfibp2 T A 7: 107,337,126 (GRCm39) Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 (GRCm39) E493G probably damaging Het
Ptk2b A G 14: 66,406,870 (GRCm39) F621L probably benign Het
Ptpn13 G T 5: 103,702,816 (GRCm39) D1261Y possibly damaging Het
Ptprd C T 4: 75,977,966 (GRCm39) G181D probably damaging Het
Rabgap1l T C 1: 160,270,853 (GRCm39) T645A probably benign Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Smc3 A G 19: 53,602,273 (GRCm39) N40S probably damaging Het
Spata31 A T 13: 65,067,587 (GRCm39) D83V probably benign Het
Sptb C T 12: 76,630,330 (GRCm39) probably benign Het
Ssc4d A T 5: 135,990,028 (GRCm39) C493* probably null Het
Styxl2 T C 1: 165,927,017 (GRCm39) D865G probably benign Het
Ubr2 C A 17: 47,262,844 (GRCm39) V1256L probably benign Het
Ubr3 T C 2: 69,803,490 (GRCm39) probably benign Het
Vmn2r105 C T 17: 20,446,631 (GRCm39) W456* probably null Het
Vmn2r24 T A 6: 123,793,070 (GRCm39) I799N probably damaging Het
Vps13b G A 15: 35,917,316 (GRCm39) G3720D possibly damaging Het
Other mutations in Micu2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Micu2 APN 14 58,181,082 (GRCm39) missense probably damaging 1.00
IGL02416:Micu2 APN 14 58,161,422 (GRCm39) missense probably damaging 0.99
IGL02675:Micu2 APN 14 58,182,834 (GRCm39) splice site probably benign
ANU22:Micu2 UTSW 14 58,181,082 (GRCm39) missense probably damaging 1.00
R0238:Micu2 UTSW 14 58,154,835 (GRCm39) splice site probably benign
R0239:Micu2 UTSW 14 58,154,835 (GRCm39) splice site probably benign
R0488:Micu2 UTSW 14 58,169,699 (GRCm39) missense probably benign 0.00
R0564:Micu2 UTSW 14 58,156,831 (GRCm39) missense possibly damaging 0.82
R1116:Micu2 UTSW 14 58,191,657 (GRCm39) missense probably benign 0.00
R1471:Micu2 UTSW 14 58,182,854 (GRCm39) missense probably damaging 0.99
R2011:Micu2 UTSW 14 58,191,590 (GRCm39) splice site probably null
R4226:Micu2 UTSW 14 58,169,742 (GRCm39) missense possibly damaging 0.92
R5595:Micu2 UTSW 14 58,209,201 (GRCm39) missense probably damaging 1.00
R6583:Micu2 UTSW 14 58,181,127 (GRCm39) missense probably damaging 0.99
R6800:Micu2 UTSW 14 58,156,896 (GRCm39) missense possibly damaging 0.89
R7125:Micu2 UTSW 14 58,209,238 (GRCm39) nonsense probably null
R7205:Micu2 UTSW 14 58,191,606 (GRCm39) missense probably benign 0.42
R7383:Micu2 UTSW 14 58,154,810 (GRCm39) missense possibly damaging 0.63
R7852:Micu2 UTSW 14 58,169,710 (GRCm39) missense probably benign
R8677:Micu2 UTSW 14 58,161,420 (GRCm39) missense possibly damaging 0.83
R9029:Micu2 UTSW 14 58,156,363 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02