Incidental Mutation 'R9222:Afg3l2'
ID 699565
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9222 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67567257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 198 (T198A)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect probably benign
Transcript: ENSMUST00000025408
AA Change: T198A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: T198A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik C A 5: 138,560,562 (GRCm39) V278F unknown Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Actr5 T A 2: 158,473,423 (GRCm39) N272K probably damaging Het
Aloxe3 A G 11: 69,023,903 (GRCm39) Y278C probably damaging Het
Apobec3 A G 15: 79,783,270 (GRCm39) I226V Het
Arap2 T A 5: 62,828,421 (GRCm39) T917S possibly damaging Het
Arhgap40 T C 2: 158,388,692 (GRCm39) L545P probably damaging Het
Atp13a5 A T 16: 29,133,472 (GRCm39) L438H probably damaging Het
Ccdc191 T A 16: 43,725,831 (GRCm39) Y105N probably damaging Het
Ccdc7a A T 8: 129,525,610 (GRCm39) F1406L unknown Het
Celsr1 A G 15: 85,815,471 (GRCm39) V1848A possibly damaging Het
Chn1 T A 2: 73,443,499 (GRCm39) N417I probably damaging Het
Cmya5 T C 13: 93,230,579 (GRCm39) K1503R probably benign Het
Cryz T C 3: 154,317,203 (GRCm39) F141L probably benign Het
Dmac2l T C 12: 69,788,554 (GRCm39) V151A probably damaging Het
Dpep2 T A 8: 106,723,016 (GRCm39) H13L Het
Eif2b5 C T 16: 20,321,382 (GRCm39) R312* probably null Het
Evc A T 5: 37,477,650 (GRCm39) M343K probably benign Het
Fbxw17 T A 13: 50,577,367 (GRCm39) D86E probably damaging Het
Fbxw9 T A 8: 85,788,856 (GRCm39) L202Q probably damaging Het
Fkbp9 G T 6: 56,852,677 (GRCm39) V466F probably damaging Het
Fras1 G A 5: 96,805,087 (GRCm39) R1243Q probably benign Het
Fsip2 C T 2: 82,815,958 (GRCm39) T3897I probably benign Het
Fut7 T C 2: 25,315,191 (GRCm39) S150P possibly damaging Het
Gstm5 A G 3: 107,804,634 (GRCm39) I73V probably benign Het
Hspb9 A G 11: 100,604,769 (GRCm39) M32V possibly damaging Het
Ift80 A G 3: 68,825,894 (GRCm39) I482T possibly damaging Het
Khk C T 5: 31,079,141 (GRCm39) probably benign Het
Kmt2d A T 15: 98,747,324 (GRCm39) H3333Q unknown Het
Lamc1 G T 1: 153,119,087 (GRCm39) T844K probably damaging Het
Luc7l2 A T 6: 38,542,633 (GRCm39) I10L probably benign Het
Mosmo T A 7: 120,277,055 (GRCm39) I23N probably benign Het
Mtcl2 A G 2: 156,881,919 (GRCm39) V711A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Nfkbiz A T 16: 55,634,347 (GRCm39) V700E probably damaging Het
Nsun7 T C 5: 66,418,366 (GRCm39) V32A probably benign Het
Oog1 A G 12: 87,653,016 (GRCm39) D104G probably damaging Het
Or4b13 C T 2: 90,082,820 (GRCm39) V171M possibly damaging Het
Pde3a A G 6: 141,437,904 (GRCm39) D991G probably damaging Het
Pds5a G A 5: 65,805,281 (GRCm39) H522Y probably benign Het
Pi4ka A G 16: 17,176,225 (GRCm39) S405P Het
Plk4 T A 3: 40,760,990 (GRCm39) V440E possibly damaging Het
Prkd2 A G 7: 16,577,699 (GRCm39) I51V probably damaging Het
Ptprt T C 2: 161,402,106 (GRCm39) T1042A probably damaging Het
Rsph6a C A 7: 18,801,986 (GRCm39) T600N possibly damaging Het
Scn11a A T 9: 119,611,013 (GRCm39) V946E probably damaging Het
Sec11a G A 7: 80,565,634 (GRCm39) L170F probably damaging Het
Slc15a5 A G 6: 137,961,450 (GRCm39) I215T Het
Slc1a1 A G 19: 28,882,794 (GRCm39) I353V probably benign Het
Smox A G 2: 131,362,843 (GRCm39) E374G possibly damaging Het
Sytl2 A G 7: 90,050,633 (GRCm39) T727A possibly damaging Het
Taar7d A C 10: 23,904,124 (GRCm39) K335N probably benign Het
Tacc2 T A 7: 130,227,985 (GRCm39) S1557T probably benign Het
Tbx19 C A 1: 164,966,609 (GRCm39) V422L probably benign Het
Tdrd1 G T 19: 56,831,679 (GRCm39) V357F probably benign Het
Tdrd6 A G 17: 43,939,231 (GRCm39) C606R probably damaging Het
Tmcc1 C G 6: 116,020,049 (GRCm39) G468R Het
Tmem209 G A 6: 30,506,838 (GRCm39) T93I probably damaging Het
Trpv1 T C 11: 73,141,681 (GRCm39) V568A possibly damaging Het
Tsbp1 A T 17: 34,648,922 (GRCm39) I43L Het
Tubgcp2 T C 7: 139,587,965 (GRCm39) D220G probably damaging Het
Vmn1r11 A G 6: 57,114,992 (GRCm39) R219G possibly damaging Het
Zan A G 5: 137,465,463 (GRCm39) S431P possibly 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
R2383:Afg3l2 UTSW 18 67,556,026 (GRCm39) missense possibly damaging 0.91
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
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'- GAAGCCTTTCCACACAGCAG -3'
(R):5'- ACCTGGATGACTGGCTGTAGAG -3'

Sequencing Primer
(F):5'- AGCAGCTGGTGTCAGTGC -3'
(R):5'- ATGACTGGCTGTAGAGACTGG -3'
Posted On 2022-02-07