Incidental Mutation 'R6027:Afg3l2'
ID 480140
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission 044199-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6027 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 67554329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 458 (L458M)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000025408
AA Change: L458M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: L458M

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
Meta Mutation Damage Score 0.3865 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (68/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,289,003 (GRCm39) V2299A probably benign Het
Acacb A G 5: 114,303,661 (GRCm39) D28G probably benign Het
Adamts6 G A 13: 104,616,043 (GRCm39) G1035D probably damaging Het
Adamts7 A C 9: 90,073,078 (GRCm39) Y755S probably damaging Het
Ank2 T C 3: 126,791,528 (GRCm39) T763A possibly damaging Het
Armc9 G C 1: 86,172,389 (GRCm39) L105F probably damaging Het
Asah2 T C 19: 32,022,351 (GRCm39) N228D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,390,794 (GRCm39) V693G probably damaging Het
Bptf T C 11: 106,965,771 (GRCm39) E1141G probably damaging Het
Col12a1 C T 9: 79,563,860 (GRCm39) probably null Het
Csmd2 G A 4: 128,453,739 (GRCm39) D3475N unknown Het
Dctn5 T C 7: 121,732,564 (GRCm39) probably benign Het
Dhrs4 A G 14: 55,723,580 (GRCm39) K18E probably benign Het
Eci2 A T 13: 35,169,930 (GRCm39) probably null Het
Efcab6 A G 15: 83,851,922 (GRCm39) F319L probably benign Het
Elane A T 10: 79,722,852 (GRCm39) H86L probably damaging Het
Endod1 A T 9: 14,268,893 (GRCm39) Y197* probably null Het
Eno4 A G 19: 58,935,262 (GRCm39) D158G probably damaging Het
Fam217a T A 13: 35,094,977 (GRCm39) T170S possibly damaging Het
Fbxo7 A G 10: 85,883,950 (GRCm39) D517G probably damaging Het
Fkbp3 G T 12: 65,120,692 (GRCm39) A2E possibly damaging Het
Gan A G 8: 117,885,034 (GRCm39) Y54C probably damaging Het
Gdap1l1 T A 2: 163,293,531 (GRCm39) N194K possibly damaging Het
Gnptab A G 10: 88,269,087 (GRCm39) T597A probably damaging Het
Hmcn1 A G 1: 150,678,646 (GRCm39) S492P possibly damaging Het
Hmox1 C A 8: 75,823,499 (GRCm39) H56N probably damaging Het
Kank3 C T 17: 34,037,088 (GRCm39) P131S possibly damaging Het
Kif14 T C 1: 136,410,797 (GRCm39) probably null Het
Kif1a A T 1: 92,953,365 (GRCm39) M1274K probably benign Het
Kmt2a A T 9: 44,730,587 (GRCm39) probably benign Het
Lypla1 T C 1: 4,907,299 (GRCm39) probably null Het
Man2b1 C T 8: 85,823,381 (GRCm39) T905I probably damaging Het
Mmp15 C A 8: 96,098,804 (GRCm39) H544N probably benign Het
Myh7 A T 14: 55,208,259 (GRCm39) N1933K probably benign Het
Ndst4 G T 3: 125,507,025 (GRCm39) A730S probably benign Het
Nmur1 G A 1: 86,315,053 (GRCm39) Q238* probably null Het
Nwd2 C T 5: 63,965,563 (GRCm39) P1716S possibly damaging Het
Or13c7c A G 4: 43,835,842 (GRCm39) V216A probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8k38 T G 2: 86,488,148 (GRCm39) Y218S probably damaging Het
P2ry6 T G 7: 100,587,715 (GRCm39) M215L probably benign Het
Parp4 G A 14: 56,866,615 (GRCm39) E1060K probably benign Het
Pde10a A G 17: 9,183,509 (GRCm39) I822V possibly damaging Het
Pira13 T C 7: 3,827,638 (GRCm39) Y173C possibly damaging Het
Pkd1l1 C A 11: 8,866,272 (GRCm39) G528* probably null Het
Ptk2 T A 15: 73,101,762 (GRCm39) Q816L probably damaging Het
Ptprg T C 14: 12,220,613 (GRCm38) F442L possibly damaging Het
Qrfpr A G 3: 36,276,187 (GRCm39) Y68H probably benign Het
Ripk4 A G 16: 97,545,274 (GRCm39) W458R probably damaging Het
Ros1 G T 10: 52,040,064 (GRCm39) T309N possibly damaging Het
Rps27a T C 11: 29,497,808 (GRCm39) probably benign Het
Sarm1 T A 11: 78,374,384 (GRCm39) M577L probably benign Het
Scin T C 12: 40,127,515 (GRCm39) Y425C probably damaging Het
Serpina12 T A 12: 103,997,336 (GRCm39) Y395F probably benign Het
Sfxn2 T A 19: 46,571,291 (GRCm39) Y69* probably null Het
Skint6 T C 4: 112,953,761 (GRCm39) probably null Het
Slc7a1 A C 5: 148,270,774 (GRCm39) I564S possibly damaging Het
Smc6 T A 12: 11,356,179 (GRCm39) Y933N probably benign Het
Sp110 T C 1: 85,505,039 (GRCm39) S438G possibly damaging Het
St8sia4 T A 1: 95,581,399 (GRCm39) R114S probably damaging Het
Trim11 C T 11: 58,869,289 (GRCm39) A75V possibly damaging Het
Tufm T A 7: 126,086,920 (GRCm39) H68Q probably damaging Het
Ythdc2 T A 18: 44,993,503 (GRCm39) D194E probably benign 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
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'- GGCACTGTCCAGCTTCAATG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'

Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'
Posted On 2017-06-26