Incidental Mutation 'R4414:Aco2'
ID 328079
Institutional Source Beutler Lab
Gene Symbol Aco2
Ensembl Gene ENSMUSG00000022477
Gene Name aconitase 2, mitochondrial
Synonyms Aco3, Irp1, D10Wsu183e, Aco-2
MMRRC Submission 041694-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R4414 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 81756664-81799338 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 81773584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023116] [ENSMUST00000135198] [ENSMUST00000157003] [ENSMUST00000229068] [ENSMUST00000231091]
AlphaFold Q99KI0
Predicted Effect probably benign
Transcript: ENSMUST00000023116
AA Change: E41G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477
AA Change: E41G

DomainStartEndE-ValueType
Pfam:Aconitase 65 503 2.2e-160 PFAM
Pfam:Aconitase_C 582 712 5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135198
AA Change: E41G

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably null
Transcript: ENSMUST00000157003
Predicted Effect probably benign
Transcript: ENSMUST00000229068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230669
Predicted Effect probably benign
Transcript: ENSMUST00000231091
AA Change: E8G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T A 14: 44,406,690 (GRCm39) M120L probably benign Het
Acss1 A G 2: 150,501,823 (GRCm39) S115P possibly damaging Het
Ank2 A T 3: 127,019,411 (GRCm39) probably null Het
AU041133 C T 10: 81,987,316 (GRCm39) T323M probably damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Bod1l G A 5: 41,977,870 (GRCm39) T1148I probably benign Het
Celsr1 C T 15: 85,847,334 (GRCm39) V1468I probably benign Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cep89 A G 7: 35,115,822 (GRCm39) probably benign Het
Cfap58 A G 19: 47,941,480 (GRCm39) K283E possibly damaging Het
Cog5 C T 12: 31,710,853 (GRCm39) Q78* probably null Het
Col20a1 C T 2: 180,643,043 (GRCm39) R796C possibly damaging Het
Dnah7b A T 1: 46,165,840 (GRCm39) T502S probably benign Het
Dnm1l A G 16: 16,160,559 (GRCm39) probably null Het
Dse A T 10: 34,028,632 (GRCm39) F819L probably benign Het
Eloa G T 4: 135,738,553 (GRCm39) L136I possibly damaging Het
Eloa T A 4: 135,738,576 (GRCm39) H128L probably benign Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Golim4 T G 3: 75,802,347 (GRCm39) N287T probably benign Het
Gpx8 T A 13: 113,179,682 (GRCm39) K206N possibly damaging Het
Iqgap3 G T 3: 88,004,293 (GRCm39) V460F probably benign Het
Kcne4 A T 1: 78,795,651 (GRCm39) M100L probably benign Het
Kmt2a A T 9: 44,721,077 (GRCm39) probably benign Het
Ktn1 G A 14: 47,962,387 (GRCm39) W1117* probably null Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lmln T G 16: 32,930,220 (GRCm39) I559S probably benign Het
Mapk4 A T 18: 74,063,609 (GRCm39) F538I possibly damaging Het
Mlxipl A G 5: 135,166,253 (GRCm39) probably benign Het
Mmrn1 T C 6: 60,921,570 (GRCm39) L9P probably damaging Het
Mnat1 G A 12: 73,228,601 (GRCm39) R155H probably damaging Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Naaladl1 T C 19: 6,165,581 (GRCm39) L745P probably damaging Het
Obsl1 A T 1: 75,467,546 (GRCm39) D1409E probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Pla2g4e A T 2: 120,013,194 (GRCm39) H375Q probably benign Het
Prodh2 G A 7: 30,205,877 (GRCm39) V238M probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rock1 A T 18: 10,080,514 (GRCm39) M1010K probably damaging Het
Ros1 A G 10: 52,038,800 (GRCm39) probably null Het
Sim1 A T 10: 50,857,708 (GRCm39) D486V probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Src A G 2: 157,306,573 (GRCm39) D192G probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tmem145 A G 7: 25,006,554 (GRCm39) Y54C probably damaging Het
Try4 C T 6: 41,281,905 (GRCm39) P164S possibly damaging Het
Vegfc A T 8: 54,634,130 (GRCm39) N270Y probably benign Het
Other mutations in Aco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Aco2 APN 15 81,797,915 (GRCm39) missense possibly damaging 0.88
IGL02450:Aco2 APN 15 81,798,963 (GRCm39) makesense probably null
IGL03408:Aco2 APN 15 81,783,424 (GRCm39) critical splice donor site probably null
ANU22:Aco2 UTSW 15 81,797,915 (GRCm39) missense possibly damaging 0.88
R0066:Aco2 UTSW 15 81,787,666 (GRCm39) splice site probably benign
R0066:Aco2 UTSW 15 81,787,666 (GRCm39) splice site probably benign
R0254:Aco2 UTSW 15 81,773,557 (GRCm39) missense probably damaging 0.99
R0408:Aco2 UTSW 15 81,797,319 (GRCm39) splice site probably null
R0535:Aco2 UTSW 15 81,797,418 (GRCm39) missense possibly damaging 0.76
R0839:Aco2 UTSW 15 81,791,736 (GRCm39) splice site probably null
R1199:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R1201:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R1320:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R1321:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R1322:Aco2 UTSW 15 81,779,394 (GRCm39) missense probably damaging 1.00
R2082:Aco2 UTSW 15 81,797,896 (GRCm39) missense possibly damaging 0.83
R2275:Aco2 UTSW 15 81,779,465 (GRCm39) missense probably benign 0.37
R2297:Aco2 UTSW 15 81,788,109 (GRCm39) missense probably damaging 1.00
R4497:Aco2 UTSW 15 81,779,486 (GRCm39) missense probably damaging 1.00
R4498:Aco2 UTSW 15 81,779,486 (GRCm39) missense probably damaging 1.00
R4708:Aco2 UTSW 15 81,794,117 (GRCm39) critical splice donor site probably null
R5556:Aco2 UTSW 15 81,773,520 (GRCm39) missense probably damaging 1.00
R5568:Aco2 UTSW 15 81,787,787 (GRCm39) missense probably damaging 0.99
R6103:Aco2 UTSW 15 81,797,452 (GRCm39) missense probably benign 0.00
R6912:Aco2 UTSW 15 81,779,597 (GRCm39) missense probably benign
R7319:Aco2 UTSW 15 81,787,820 (GRCm39) missense probably damaging 1.00
R7552:Aco2 UTSW 15 81,788,142 (GRCm39) missense probably damaging 1.00
R7585:Aco2 UTSW 15 81,756,685 (GRCm39) unclassified probably benign
R8792:Aco2 UTSW 15 81,793,697 (GRCm39) missense probably damaging 1.00
R8838:Aco2 UTSW 15 81,796,128 (GRCm39) missense probably damaging 0.97
R8957:Aco2 UTSW 15 81,773,701 (GRCm39) intron probably benign
R9014:Aco2 UTSW 15 81,798,857 (GRCm39) missense probably benign
R9037:Aco2 UTSW 15 81,756,620 (GRCm39) unclassified probably benign
R9038:Aco2 UTSW 15 81,756,620 (GRCm39) unclassified probably benign
R9039:Aco2 UTSW 15 81,756,620 (GRCm39) unclassified probably benign
R9562:Aco2 UTSW 15 81,773,635 (GRCm39) missense probably null 0.30
R9565:Aco2 UTSW 15 81,773,635 (GRCm39) missense probably null 0.30
Z1177:Aco2 UTSW 15 81,779,513 (GRCm39) missense probably damaging 0.99
Z1177:Aco2 UTSW 15 81,779,511 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTACAGTCACATAACAGCTCATG -3'
(R):5'- AAGTGTAGGCTTCACCAGTC -3'

Sequencing Primer
(F):5'- GTCACATAACAGCTCATGACACCTG -3'
(R):5'- GTGTAGGCTTCACCAGTCAACAG -3'
Posted On 2015-07-07