Incidental Mutation 'R9017:Afg3l2'
ID 686104
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission 068847-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9017 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67542550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 632 (V632A)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000025408
AA Change: V632A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: V632A

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 0.3414 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,553,211 (GRCm39) T629A probably benign Het
Ahnak G A 19: 8,987,487 (GRCm39) E2924K probably damaging Het
Ampd1 A G 3: 102,995,786 (GRCm39) Y232C probably benign Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Atp8b4 A T 2: 126,275,841 (GRCm39) N130K probably benign Het
Cdh15 T C 8: 123,584,256 (GRCm39) probably null Het
Cep70 T C 9: 99,181,829 (GRCm39) I613T possibly damaging Het
Cfap54 C T 10: 92,651,883 (GRCm39) V3056I probably benign Het
Chrna2 T C 14: 66,386,282 (GRCm39) F143L probably benign Het
Cmya5 C T 13: 93,228,572 (GRCm39) R2172H probably benign Het
Col17a1 T C 19: 47,657,898 (GRCm39) E424G probably benign Het
Crybg1 T C 10: 43,880,477 (GRCm39) E237G probably benign Het
Ctnnd2 G A 15: 30,881,316 (GRCm39) C732Y probably damaging Het
Dcaf12 T C 4: 41,299,411 (GRCm39) N264S probably benign Het
Dennd4c A G 4: 86,743,349 (GRCm39) S1064G probably benign Het
Dsc2 A T 18: 20,176,968 (GRCm39) Y360N probably damaging Het
E2f3 T G 13: 30,097,478 (GRCm39) D295A probably damaging Het
Eef2 T C 10: 81,015,487 (GRCm39) L336P possibly damaging Het
Fanca A G 8: 124,035,307 (GRCm39) S213P possibly damaging Het
Fpgt A T 3: 154,792,903 (GRCm39) S375T probably benign Het
Gad1 G A 2: 70,416,206 (GRCm39) V222I probably benign Het
Gm5930 A T 14: 44,568,858 (GRCm39) Y255N possibly damaging Het
Gpr55 T C 1: 85,868,624 (GRCm39) N319S probably benign Het
Grik2 T A 10: 48,989,555 (GRCm39) I825F possibly damaging Het
Hcn4 T C 9: 58,731,482 (GRCm39) S230P unknown Het
Kansl3 T C 1: 36,393,861 (GRCm39) I222V probably benign Het
Kif20b T C 19: 34,927,203 (GRCm39) S822P probably benign Het
Kremen2 T A 17: 23,964,737 (GRCm39) probably benign Het
Krt71 G T 15: 101,651,100 (GRCm39) R128S possibly damaging Het
Lrp4 A T 2: 91,324,397 (GRCm39) N1244I possibly damaging Het
Lrrc66 T C 5: 73,765,244 (GRCm39) S600G possibly damaging Het
Mrc2 T A 11: 105,216,711 (GRCm39) C167S probably damaging Het
Mrps17 T C 5: 129,793,857 (GRCm39) V17A probably damaging Het
Muc20 A T 16: 32,614,840 (GRCm39) L179Q unknown Het
Or13g1 A T 7: 85,955,957 (GRCm39) Y121* probably null Het
Or13p8 T A 4: 118,583,565 (GRCm39) F40L probably benign Het
Or4c29 G T 2: 88,739,951 (GRCm39) T262K probably damaging Het
Otop2 T C 11: 115,214,431 (GRCm39) F63L probably benign Het
Pde3b C T 7: 114,015,695 (GRCm39) Q304* probably null Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Plekhg4 A G 8: 106,105,332 (GRCm39) E599G possibly damaging Het
Ppargc1a C A 5: 51,630,251 (GRCm39) R622L unknown Het
Ppip5k2 A G 1: 97,655,139 (GRCm39) L879P probably damaging Het
Prepl C T 17: 85,376,366 (GRCm39) V563M possibly damaging Het
Prom1 G T 5: 44,204,870 (GRCm39) D201E probably damaging Het
Psmd1 T A 1: 86,054,231 (GRCm39) D723E probably damaging Het
Sall2 A T 14: 52,550,719 (GRCm39) N825K possibly damaging Het
Sds A T 5: 120,618,655 (GRCm39) M70L probably benign Het
Sema4c C T 1: 36,592,079 (GRCm39) R256H probably damaging Het
Sik1 T C 17: 32,070,545 (GRCm39) Y100C probably damaging Het
Slc13a5 T A 11: 72,138,588 (GRCm39) I452F probably damaging Het
Slc25a24 A G 3: 109,062,395 (GRCm39) I162V possibly damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tenm3 T A 8: 48,707,668 (GRCm39) N1710I probably damaging Het
Tmem115 T A 9: 107,411,880 (GRCm39) M68K probably benign Het
Tmem132d T C 5: 127,866,936 (GRCm39) I655V probably benign Het
Tmem132d T C 5: 128,346,316 (GRCm39) I69V probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Trim9 A G 12: 70,314,013 (GRCm39) M544T probably benign Het
Ttll3 G A 6: 113,389,850 (GRCm39) R745H probably benign Het
Ttn G T 2: 76,737,931 (GRCm39) L4249I unknown Het
Unc79 G A 12: 103,074,874 (GRCm39) probably null Het
Vmn1r196 T C 13: 22,478,254 (GRCm39) C298R probably benign Het
Vmn1r216 A G 13: 23,284,081 (GRCm39) I255V probably benign Het
Zfp853 A G 5: 143,274,243 (GRCm39) L474P 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
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
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'- GATCTAAGACTCTCTGCTGCAG -3'
(R):5'- TGTGCTGCCCTTTCATCAGG -3'

Sequencing Primer
(F):5'- TGCTGCAGAAACCTTACTCAGTG -3'
(R):5'- CCTTTCATCAGGGAGTGTCCG -3'
Posted On 2021-10-11