Incidental Mutation 'IGL03343:Micu2'
ID417309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Micu2
Ensembl Gene ENSMUSG00000021973
Gene Namemitochondrial calcium uptake 2
Synonyms4833427E09Rik, 1110008L20Rik, Efha1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03343
Quality Score
Status
Chromosome14
Chromosomal Location57916261-57999262 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57917311 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 419 (V419A)
Ref Sequence ENSEMBL: ENSMUSP00000022543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022543]
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
5430419D17Rik T A 7: 131,246,691 I858N probably damaging Het
Adamts17 A G 7: 67,075,316 H795R probably damaging Het
Adgrl2 A T 3: 148,859,380 I188K probably damaging Het
Adgrv1 A G 13: 81,283,388 Y5974H probably damaging Het
Angpt4 A G 2: 151,936,703 T336A probably damaging Het
Arhgap30 C A 1: 171,409,094 T1012N probably damaging Het
Asl A T 5: 130,012,067 Y178N probably damaging Het
Brd1 C A 15: 88,707,251 L714F possibly damaging Het
Ccdc129 T G 6: 55,968,584 D763E probably damaging Het
Ccdc47 A G 11: 106,204,962 S303P probably damaging Het
Cdk16 A G X: 20,695,759 K264E probably damaging Het
Cenpc1 A T 5: 86,016,322 F813L probably damaging Het
Cfp A C X: 20,928,009 F291C possibly damaging Het
Chordc1 T G 9: 18,312,466 F276V probably damaging Het
Clic4 C T 4: 135,218,578 R176H possibly damaging Het
Dusp27 T C 1: 166,099,448 D865G probably benign Het
Fcer1a T G 1: 173,225,473 N52T possibly damaging Het
Fndc7 A T 3: 108,867,308 C545S probably damaging Het
Frem2 T C 3: 53,652,253 D1611G probably damaging Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gga3 A T 11: 115,592,486 N82K probably damaging Het
Gm43638 G A 5: 87,460,625 P452S possibly damaging Het
Gpn1 T C 5: 31,504,965 S244P probably damaging Het
Hspa12a T C 19: 58,799,396 S665G probably benign Het
Htt A G 5: 34,826,041 I995V probably benign Het
Iars A T 13: 49,724,747 I916L probably benign Het
Ice1 C A 13: 70,602,929 L1679F probably damaging Het
Inpp1 A T 1: 52,799,327 D54E probably damaging Het
Irf2bpl T C 12: 86,882,939 E320G possibly damaging Het
Kcnn2 T C 18: 45,676,959 V421A probably damaging Het
Nek9 C T 12: 85,303,609 C897Y probably damaging Het
Ofcc1 A C 13: 40,072,664 H797Q probably benign Het
Olfr1024 T C 2: 85,904,941 T38A probably benign Het
Olfr109 G A 17: 37,466,409 D68N probably damaging Het
Olfr1388 C A 11: 49,444,243 H131N probably damaging Het
Olfr822 T G 10: 130,075,256 L282R probably damaging Het
Pakap C T 4: 57,688,502 T115M probably damaging Het
Papss1 G A 3: 131,583,189 G151S probably benign Het
Plxnb1 A G 9: 109,114,712 T1956A probably damaging Het
Pomt1 A G 2: 32,253,712 probably benign Het
Ppfibp2 T A 7: 107,737,919 Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 E493G probably damaging Het
Ptk2b A G 14: 66,169,421 F621L probably benign Het
Ptpn13 G T 5: 103,554,950 D1261Y possibly damaging Het
Ptprd C T 4: 76,059,729 G181D probably damaging Het
Rabgap1l T C 1: 160,443,283 T645A probably benign Het
Slc2a7 T C 4: 150,168,340 I479T probably damaging Het
Smc3 A G 19: 53,613,842 N40S probably damaging Het
Spata31 A T 13: 64,919,773 D83V probably benign Het
Sptb C T 12: 76,583,556 probably benign Het
Ssc4d A T 5: 135,961,174 C493* probably null Het
Ubr2 C A 17: 46,951,918 V1256L probably benign Het
Ubr3 T C 2: 69,973,146 probably benign Het
Vmn2r105 C T 17: 20,226,369 W456* probably null Het
Vmn2r24 T A 6: 123,816,111 I799N probably damaging Het
Vps13b G A 15: 35,917,170 G3720D possibly damaging Het
Other mutations in Micu2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Micu2 APN 14 57943625 missense probably damaging 1.00
IGL02416:Micu2 APN 14 57923965 missense probably damaging 0.99
IGL02675:Micu2 APN 14 57945377 splice site probably benign
ANU22:Micu2 UTSW 14 57943625 missense probably damaging 1.00
R0238:Micu2 UTSW 14 57917378 splice site probably benign
R0239:Micu2 UTSW 14 57917378 splice site probably benign
R0488:Micu2 UTSW 14 57932242 missense probably benign 0.00
R0564:Micu2 UTSW 14 57919374 missense possibly damaging 0.82
R1116:Micu2 UTSW 14 57954200 missense probably benign 0.00
R1471:Micu2 UTSW 14 57945397 missense probably damaging 0.99
R2011:Micu2 UTSW 14 57954133 splice site probably null
R4226:Micu2 UTSW 14 57932285 missense possibly damaging 0.92
R5595:Micu2 UTSW 14 57971744 missense probably damaging 1.00
R6583:Micu2 UTSW 14 57943670 missense probably damaging 0.99
R6800:Micu2 UTSW 14 57919439 missense possibly damaging 0.89
R7125:Micu2 UTSW 14 57971781 nonsense probably null
R7205:Micu2 UTSW 14 57954149 missense probably benign 0.42
Posted On2016-08-02