Incidental Mutation 'R0107:Afg3l2'
ID 33353
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission 038393-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0107 (G1)
Quality Score 192
Status Validated (trace)
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67564836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 213 (F213L)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000025408
AA Change: F213L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: F213L

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 0.3446 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 99% (71/72)
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
Aadacl2fm2 T A 3: 59,659,737 (GRCm39) L397I possibly damaging Het
Abca1 A G 4: 53,080,834 (GRCm39) V825A probably benign Het
Adamts7 T C 9: 90,062,773 (GRCm39) I409T possibly damaging Het
Adck1 T C 12: 88,413,426 (GRCm39) W253R possibly damaging Het
Ankle2 T C 5: 110,400,893 (GRCm39) V743A probably benign Het
Ankrd34c C T 9: 89,611,537 (GRCm39) R268H probably benign Het
Arb2a A G 13: 78,050,933 (GRCm39) D145G probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc7b T G 8: 129,904,678 (GRCm39) probably benign Het
Cd320 A T 17: 34,067,059 (GRCm39) M169L probably benign Het
Chn1 A G 2: 73,445,028 (GRCm39) Y338H probably damaging Het
Chuk T A 19: 44,085,358 (GRCm39) S263C probably damaging Het
Dennd4b C A 3: 90,180,043 (GRCm39) P663T possibly damaging Het
Dnajc24 T G 2: 105,832,259 (GRCm39) probably benign Het
Fbn2 A G 18: 58,189,275 (GRCm39) V1617A probably benign Het
Fermt2 T C 14: 45,702,279 (GRCm39) N502D probably damaging Het
Frrs1 A T 3: 116,690,365 (GRCm39) I3F probably damaging Het
Fut1 C A 7: 45,268,270 (GRCm39) Q20K possibly damaging Het
Gbf1 T C 19: 46,273,267 (GRCm39) V1709A probably benign Het
Gfra3 G T 18: 34,844,359 (GRCm39) H60Q probably benign Het
Gm10750 T A 2: 148,857,973 (GRCm39) M93L unknown Het
Hmcn1 T A 1: 150,462,766 (GRCm39) I5124L probably benign Het
Hps3 A C 3: 20,084,960 (GRCm39) L76R probably damaging Het
Ifrd1 T A 12: 40,264,080 (GRCm39) Q105L probably damaging Het
Irs2 A T 8: 11,054,691 (GRCm39) V1247E probably damaging Het
Itgal T C 7: 126,927,731 (GRCm39) probably benign Het
Ivns1abp A T 1: 151,237,321 (GRCm39) N495I probably damaging Het
Kank1 T A 19: 25,407,730 (GRCm39) probably benign Het
Mroh8 T C 2: 157,067,388 (GRCm39) Q657R probably benign Het
Mthfd1l T C 10: 3,991,838 (GRCm39) Y597H probably benign Het
Myom1 G A 17: 71,384,360 (GRCm39) V692I probably damaging Het
Or13a17 A T 7: 140,271,258 (GRCm39) M147L probably benign Het
Or1j18 T G 2: 36,624,730 (GRCm39) Y132* probably null Het
Or7g20 A G 9: 18,946,629 (GRCm39) D70G probably damaging Het
Palmd A T 3: 116,717,725 (GRCm39) H257Q probably damaging Het
Pcnx2 A T 8: 126,480,325 (GRCm39) V1994D probably benign Het
Phkb G A 8: 86,743,560 (GRCm39) G553S probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Ptprn A T 1: 75,232,356 (GRCm39) L453M probably damaging Het
Ptprz1 T A 6: 23,000,569 (GRCm39) D886E probably damaging Het
Rcn1 T A 2: 105,225,126 (GRCm39) I110F possibly damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Slc6a19 A G 13: 73,832,176 (GRCm39) Y467H possibly damaging Het
Slc9c1 T A 16: 45,395,783 (GRCm39) D611E probably benign Het
Slitrk6 T C 14: 110,989,395 (GRCm39) E104G possibly damaging Het
Spag17 A T 3: 99,958,103 (GRCm39) K920N possibly damaging Het
St3gal5 A G 6: 72,119,133 (GRCm39) S82G probably benign Het
Tlk1 T C 2: 70,544,333 (GRCm39) *767W probably null Het
Tln2 A G 9: 67,277,988 (GRCm39) V342A probably damaging Het
Tmem104 T A 11: 115,093,006 (GRCm39) M132K probably damaging Het
Tmem184c A G 8: 78,323,702 (GRCm39) S387P possibly damaging Het
Tmtc1 A G 6: 148,327,411 (GRCm39) V34A possibly damaging Het
Trim46 A G 3: 89,143,640 (GRCm39) F596S probably damaging Het
Unc79 T A 12: 103,100,784 (GRCm39) D1870E possibly damaging Het
Utp20 T C 10: 88,614,253 (GRCm39) T1234A probably benign Het
Vmn1r31 T A 6: 58,449,728 (GRCm39) T46S probably benign Het
Vps13a A T 19: 16,669,188 (GRCm39) L1341Q probably benign Het
Wdr72 A T 9: 74,117,715 (GRCm39) D821V probably damaging Het
Zfhx4 T C 3: 5,464,042 (GRCm39) L1400P probably damaging Het
Zfp217 T A 2: 169,956,794 (GRCm39) K735* probably null Het
Zfp235 A G 7: 23,836,541 (GRCm39) Q29R probably damaging Het
Zfp628 A G 7: 4,923,167 (GRCm39) Y463C probably damaging Het
Zkscan4 A G 13: 21,668,751 (GRCm39) T401A 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
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
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'- CAAGGGACAGCGAACCATCTGTAAC -3'
(R):5'- AGGATTGCCACATGTTCTCACCG -3'

Sequencing Primer
(F):5'- gcaatattcttgcttcagtctcc -3'
(R):5'- GTCACCATGTCTTTACAACCAGG -3'
Posted On 2013-05-09