Incidental Mutation 'R2383:Afg3l2'
ID 247620
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2383 (G1)
Quality Score 172
Status Not validated
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67556026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 435 (V435A)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000025408
AA Change: V435A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: V435A

DomainStartEndE-ValueType
low complexity region 95 121 N/A INTRINSIC
Pfam:FtsH_ext 144 241 8.8e-12 PFAM
transmembrane domain 251 270 N/A INTRINSIC
low complexity region 271 286 N/A INTRINSIC
AAA 339 478 1.37e-23 SMART
Pfam:Peptidase_M41 540 743 4e-77 PFAM
low complexity region 780 794 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene usually die before weaning. Mice develop progressive paralysis as a result of abnormalities in the axons innervating muscle endplates. Mice homozygous for a conditional allele activated in Purkinje cells exhibit abnormal gait and Purkinje cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 T C 2: 130,893,282 (GRCm39) T748A probably benign Het
Ccdc170 G A 10: 4,484,208 (GRCm39) E345K probably benign Het
Chd2 T C 7: 73,153,168 (GRCm39) I227V possibly damaging Het
Cndp2 C A 18: 84,693,215 (GRCm39) D182Y possibly damaging Het
Col14a1 A T 15: 55,310,913 (GRCm39) probably benign Het
Cyp2e1 C T 7: 140,349,981 (GRCm39) S222L probably benign Het
Evx2 T C 2: 74,488,393 (GRCm39) probably null Het
Kics2 A G 10: 121,586,554 (GRCm39) T290A possibly damaging Het
L1td1 A G 4: 98,625,959 (GRCm39) E718G possibly damaging Het
Lgr4 T C 2: 109,830,960 (GRCm39) S296P probably damaging Het
Lrrc7 T C 3: 157,869,593 (GRCm39) M709V probably benign Het
Mtbp G A 15: 55,429,590 (GRCm39) G162D probably damaging Het
Nap1l1 T G 10: 111,329,272 (GRCm39) D295E probably damaging Het
Or2f1b A T 6: 42,739,393 (GRCm39) M136L probably benign Het
Plrg1 C T 3: 82,973,255 (GRCm39) P178S probably damaging Het
Serpina1b T A 12: 103,694,539 (GRCm39) I402F probably benign Het
Sla T A 15: 66,654,525 (GRCm39) I254F probably damaging Het
Slc25a29 A G 12: 108,792,934 (GRCm39) S215P probably damaging Het
Thoc2l T C 5: 104,666,854 (GRCm39) S459P probably benign Het
Tiam1 A G 16: 89,595,572 (GRCm39) V1303A probably benign Het
Trim45 A T 3: 100,832,543 (GRCm39) I259F probably damaging Het
Ttn T C 2: 76,536,856 (GRCm39) S34990G probably benign Het
Zbtb48 A G 4: 152,111,407 (GRCm39) V36A probably damaging Het
Other mutations in Afg3l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Afg3l2 APN 18 67,564,723 (GRCm39) critical splice donor site probably null
IGL01395:Afg3l2 APN 18 67,575,880 (GRCm39) missense probably benign 0.21
IGL01533:Afg3l2 APN 18 67,538,488 (GRCm39) nonsense probably null
IGL01814:Afg3l2 APN 18 67,538,544 (GRCm39) missense probably benign 0.23
IGL01868:Afg3l2 APN 18 67,547,218 (GRCm39) missense possibly damaging 0.83
IGL02399:Afg3l2 APN 18 67,562,110 (GRCm39) missense possibly damaging 0.82
IGL02827:Afg3l2 APN 18 67,559,015 (GRCm39) missense probably damaging 1.00
IGL03342:Afg3l2 APN 18 67,540,390 (GRCm39) missense probably benign
IGL03392:Afg3l2 APN 18 67,547,139 (GRCm39) splice site probably benign
radicle UTSW 18 67,556,023 (GRCm39) missense probably damaging 1.00
rootlet UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R0057:Afg3l2 UTSW 18 67,556,156 (GRCm39) missense probably damaging 1.00
R0107:Afg3l2 UTSW 18 67,564,836 (GRCm39) missense probably damaging 1.00
R0650:Afg3l2 UTSW 18 67,548,627 (GRCm39) missense possibly damaging 0.77
R0831:Afg3l2 UTSW 18 67,554,297 (GRCm39) missense probably damaging 1.00
R0899:Afg3l2 UTSW 18 67,556,047 (GRCm39) missense possibly damaging 0.65
R0962:Afg3l2 UTSW 18 67,538,497 (GRCm39) missense possibly damaging 0.77
R1672:Afg3l2 UTSW 18 67,540,493 (GRCm39) missense probably benign 0.31
R1815:Afg3l2 UTSW 18 67,548,643 (GRCm39) nonsense probably null
R1838:Afg3l2 UTSW 18 67,547,242 (GRCm39) missense probably damaging 0.99
R2013:Afg3l2 UTSW 18 67,564,842 (GRCm39) missense probably damaging 0.99
R2906:Afg3l2 UTSW 18 67,573,292 (GRCm39) missense probably damaging 1.00
R4763:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R4765:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R4775:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5193:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5196:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5197:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5257:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5361:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5362:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5363:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5397:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5588:Afg3l2 UTSW 18 67,573,277 (GRCm39) missense possibly damaging 0.88
R5605:Afg3l2 UTSW 18 67,575,425 (GRCm39) nonsense probably null
R5696:Afg3l2 UTSW 18 67,540,529 (GRCm39) missense probably damaging 1.00
R5722:Afg3l2 UTSW 18 67,573,269 (GRCm39) missense probably benign 0.44
R5779:Afg3l2 UTSW 18 67,573,513 (GRCm39) missense probably null 0.12
R5972:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5973:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5974:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5979:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R5994:Afg3l2 UTSW 18 67,562,140 (GRCm39) missense probably damaging 1.00
R6026:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6027:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6028:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6029:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6033:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6033:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6035:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6035:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6075:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6077:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6081:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6131:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6132:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6134:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6152:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6154:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6169:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6178:Afg3l2 UTSW 18 67,542,598 (GRCm39) missense possibly damaging 0.91
R6187:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6216:Afg3l2 UTSW 18 67,554,329 (GRCm39) missense probably damaging 1.00
R6718:Afg3l2 UTSW 18 67,554,346 (GRCm39) missense probably damaging 1.00
R7388:Afg3l2 UTSW 18 67,556,023 (GRCm39) missense probably damaging 1.00
R8479:Afg3l2 UTSW 18 67,581,986 (GRCm39) missense probably benign 0.05
R8531:Afg3l2 UTSW 18 67,540,439 (GRCm39) missense probably damaging 0.99
R9017:Afg3l2 UTSW 18 67,542,550 (GRCm39) missense possibly damaging 0.81
R9220:Afg3l2 UTSW 18 67,562,266 (GRCm39) missense probably benign
R9222:Afg3l2 UTSW 18 67,567,257 (GRCm39) missense probably benign 0.05
R9371:Afg3l2 UTSW 18 67,567,262 (GRCm39) missense possibly damaging 0.84
R9381:Afg3l2 UTSW 18 67,575,451 (GRCm39) missense probably damaging 1.00
R9562:Afg3l2 UTSW 18 67,554,365 (GRCm39) missense probably damaging 1.00
Z1176:Afg3l2 UTSW 18 67,564,777 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- ATCTCATCACCAAGGCTGAGG -3'
(R):5'- CACAGGATTCTGGTTCAATGGTC -3'

Sequencing Primer
(F):5'- CATGTACGCATGTGCATCAG -3'
(R):5'- TTTACAGTGTAGCCCAGGC -3'
Posted On 2014-11-11