Incidental Mutation 'R5973:Afg3l2'
ID 471579
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission 044156-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5973 (G1)
Quality Score 225
Status Not 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: 92.3%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,364,928 (GRCm39) I1536N probably damaging Het
Actr1b A G 1: 36,741,162 (GRCm39) S140P probably damaging Het
Anapc7 A T 5: 122,566,366 (GRCm39) T92S probably benign Het
Ash2l G A 8: 26,307,642 (GRCm39) T585M possibly damaging Het
Asxl1 T C 2: 153,243,931 (GRCm39) F1495L probably damaging Het
Atp5pf T C 16: 84,625,328 (GRCm39) probably null Het
Bcl2a1c A G 9: 114,159,465 (GRCm39) N81S probably benign Het
Bfsp2 A C 9: 103,309,856 (GRCm39) probably null Het
Casq1 A G 1: 172,047,068 (GRCm39) Y64H probably damaging Het
Ceacam16 A G 7: 19,590,262 (GRCm39) V227A probably damaging Het
Cers6 T A 2: 68,898,969 (GRCm39) probably null Het
Chrnb1 A G 11: 69,686,671 (GRCm39) probably benign Het
Clpb G A 7: 101,313,204 (GRCm39) V63I probably benign Het
Dnah11 G T 12: 118,074,687 (GRCm39) D1388E probably benign Het
Dst T C 1: 34,195,938 (GRCm39) L405P probably damaging Het
Dstyk A G 1: 132,362,149 (GRCm39) E193G probably damaging Het
Dusp2 A T 2: 127,179,208 (GRCm39) S188C probably damaging Het
Ep400 T C 5: 110,877,697 (GRCm39) I810V unknown Het
Faim2 C T 15: 99,419,132 (GRCm39) G79D probably benign Het
Fpgt A T 3: 154,793,040 (GRCm39) I329K probably damaging Het
Fut8 A G 12: 77,411,771 (GRCm39) T78A probably benign Het
Gm15130 A G 2: 110,965,714 (GRCm39) probably benign Het
Gm17087 A C 17: 8,785,529 (GRCm39) I58R probably benign Het
Grk2 T C 19: 4,337,925 (GRCm39) D485G possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hmcn1 A G 1: 150,439,568 (GRCm39) S5539P probably damaging Het
Hmcn2 G A 2: 31,310,335 (GRCm39) V3310M probably damaging Het
Impdh1 A T 6: 29,207,161 (GRCm39) L61Q probably damaging Het
Inhbb A T 1: 119,345,806 (GRCm39) V161D possibly damaging Het
Kansl2 C T 15: 98,427,306 (GRCm39) V192M probably damaging Het
Krt1c T C 15: 101,724,747 (GRCm39) K288E probably damaging Het
Lyar A G 5: 38,385,290 (GRCm39) K110R probably damaging Het
Lyrm9 C A 11: 78,726,961 (GRCm39) H35N probably damaging Het
Mab21l1 A G 3: 55,690,533 (GRCm39) D40G probably benign Het
Maml2 A C 9: 13,532,915 (GRCm39) probably benign Het
Mbd5 A G 2: 49,162,401 (GRCm39) H69R probably benign Het
Morc2b G T 17: 33,356,446 (GRCm39) A442E probably damaging Het
Moxd2 A T 6: 40,855,744 (GRCm39) L615Q probably damaging Het
Msh2 G A 17: 88,016,011 (GRCm39) G548S probably damaging Het
Napg G A 18: 63,128,054 (GRCm39) S279N possibly damaging Het
Ncor1 A T 11: 62,240,136 (GRCm39) probably null Het
Nkiras2 G T 11: 100,516,866 (GRCm39) R128L probably damaging Het
Npy4r T C 14: 33,868,664 (GRCm39) D208G probably benign Het
Or10ak11 C T 4: 118,687,413 (GRCm39) V75I probably benign Het
Or52e2 A G 7: 102,804,081 (GRCm39) V291A possibly damaging Het
Or8b42 G T 9: 38,341,627 (GRCm39) L16F probably damaging Het
Pcdhgb2 A G 18: 37,823,560 (GRCm39) T184A probably benign Het
Plxna4 T C 6: 32,228,000 (GRCm39) probably null Het
Pnldc1 C T 17: 13,113,260 (GRCm39) E328K probably benign Het
Pon1 T A 6: 5,185,334 (GRCm39) L55F probably damaging Het
Pramel51 T C 12: 88,142,683 (GRCm39) I312V probably benign Het
Prkci G T 3: 31,092,605 (GRCm39) D296Y probably damaging Het
Prkd1 T C 12: 50,435,038 (GRCm39) H563R probably damaging Het
Ptpru T C 4: 131,546,236 (GRCm39) N266S probably benign Het
Rapgef6 A T 11: 54,530,609 (GRCm39) I589F probably damaging Het
Rcan3 A T 4: 135,145,853 (GRCm39) S127T probably benign Het
Sh3tc2 A G 18: 62,110,975 (GRCm39) D277G probably benign Het
Sipa1l3 G A 7: 29,098,949 (GRCm39) A440V probably benign Het
Slc13a2 A C 11: 78,291,358 (GRCm39) I372S probably damaging Het
Slco1a7 T A 6: 141,700,182 (GRCm39) T117S probably benign Het
Spns1 A T 7: 125,969,495 (GRCm39) I528N probably damaging Het
Sult6b2 T C 6: 142,736,021 (GRCm39) K191R probably benign Het
Swt1 A G 1: 151,278,700 (GRCm39) probably null Het
Tcn2 A T 11: 3,877,546 (GRCm39) L34* probably null Het
Tmem131l C T 3: 83,829,553 (GRCm39) A1035T possibly damaging Het
Trpc4 A G 3: 54,223,263 (GRCm39) E733G probably damaging Het
Uap1l1 A T 2: 25,254,642 (GRCm39) H184Q possibly damaging Het
Vil1 T G 1: 74,455,192 (GRCm39) V48G possibly damaging Het
Vps39 A T 2: 120,159,186 (GRCm39) H367Q probably damaging Het
Wars2 A G 3: 99,094,962 (GRCm39) T86A probably benign Het
Wdr90 A G 17: 26,064,107 (GRCm39) S1872P probably damaging Het
Wdr90 A G 17: 26,065,381 (GRCm39) L1625P probably damaging Het
Xaf1 A T 11: 72,194,256 (GRCm39) M46L probably damaging Het
Zfp1005 A G 2: 150,109,855 (GRCm39) T182A unknown 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
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'- GGCACTGTCCAGCTTCAATG -3'
(R):5'- AGTTTACATCTTGATTGTAGCTCCC -3'

Sequencing Primer
(F):5'- TCCAGCTTCAATGGTCGAAG -3'
(R):5'- GATTGTAGCTCCCCTCTCCAG -3'
Posted On 2017-03-31