Incidental Mutation 'R6216:Afg3l2'
ID 503753
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission 044349-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6216 (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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (67/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,910 (GRCm39) D488G probably benign Het
Adgrv1 C A 13: 81,672,590 (GRCm39) probably null Het
Alkbh3 G A 2: 93,838,881 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,101,569 (GRCm39) probably null Het
Anks1b A G 10: 90,096,618 (GRCm39) D425G probably damaging Het
Arid2 A G 15: 96,254,790 (GRCm39) D212G probably benign Het
Bbx A T 16: 50,071,751 (GRCm39) S225T probably benign Het
Bivm T A 1: 44,166,028 (GRCm39) probably null Het
Bpifb3 A G 2: 153,767,773 (GRCm39) Y282C probably benign Het
Cacna1h A T 17: 25,597,793 (GRCm39) I1767N probably damaging Het
Ccdc28a G T 10: 18,100,719 (GRCm39) S36* probably null Het
Ccser2 A G 14: 36,662,465 (GRCm39) S240P probably damaging Het
Ceacam1 A T 7: 25,171,421 (GRCm39) S348T probably benign Het
Ddx49 C T 8: 70,749,934 (GRCm39) G161D probably damaging Het
Dhx16 A G 17: 36,193,864 (GRCm39) E353G possibly damaging Het
Dnaaf6rt A T 1: 31,262,432 (GRCm39) D138V probably damaging Het
Etv2 A G 7: 30,334,036 (GRCm39) probably null Het
Extl1 T C 4: 134,090,441 (GRCm39) T345A probably benign Het
Fam163a A T 1: 155,954,741 (GRCm39) S137T probably benign Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fsd1l T C 4: 53,694,742 (GRCm39) C388R probably damaging Het
Galnt18 A C 7: 111,112,757 (GRCm39) V470G probably benign Het
Grin2b T A 6: 135,749,397 (GRCm39) I602F probably damaging Het
Gucy1b1 G T 3: 81,954,020 (GRCm39) probably null Het
Hace1 T C 10: 45,494,643 (GRCm39) V151A probably benign Het
Hadhb T A 5: 30,379,929 (GRCm39) D258E probably benign Het
Heatr1 C T 13: 12,447,545 (GRCm39) T1746I probably benign Het
Hrnr T C 3: 93,239,469 (GRCm39) S3236P unknown Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Kiz C A 2: 146,731,417 (GRCm39) D302E probably damaging Het
Kng2 A T 16: 22,806,343 (GRCm39) W619R probably damaging Het
Mfap3l C A 8: 61,124,841 (GRCm39) T361K probably damaging Het
Mlec T C 5: 115,288,376 (GRCm39) H160R probably benign Het
Myo16 T C 8: 10,365,494 (GRCm39) L89P probably benign Het
Neb T C 2: 52,114,564 (GRCm39) I4232V probably benign Het
Nf1 A G 11: 79,302,433 (GRCm39) I334V possibly damaging Het
Nipbl A C 15: 8,347,867 (GRCm39) F1942V probably damaging Het
Or2ag17 A T 7: 106,389,665 (GRCm39) I181N probably benign Het
Or4a70 C A 2: 89,324,066 (GRCm39) V197F probably damaging Het
Or4c11c T C 2: 88,661,655 (GRCm39) S65P probably damaging Het
Or51a10 A G 7: 103,698,902 (GRCm39) Y220H probably damaging Het
Pabpc2 G T 18: 39,907,772 (GRCm39) A346S probably damaging Het
Paxip1 T C 5: 27,971,171 (GRCm39) T393A unknown Het
Pcdhgb5 A T 18: 37,864,981 (GRCm39) T259S probably benign Het
Pfkp A T 13: 6,669,224 (GRCm39) L253H probably benign Het
Piezo1 T C 8: 123,215,869 (GRCm39) D1428G probably benign Het
Pkd1l2 T G 8: 117,808,209 (GRCm39) D105A probably damaging Het
Pou2f1 G T 1: 165,707,889 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,256,921 (GRCm39) E100G probably damaging Het
Ppp1r15a G T 7: 45,173,446 (GRCm39) T454K probably damaging Het
Prpsap1 A T 11: 116,362,239 (GRCm39) I381N probably damaging Het
Ptx3 T A 3: 66,132,265 (GRCm39) V262E probably damaging Het
Rab21 A T 10: 115,130,831 (GRCm39) H158Q probably benign Het
Rasa2 A G 9: 96,426,357 (GRCm39) S830P probably damaging Het
Rdh1 G A 10: 127,600,622 (GRCm39) S215N probably benign Het
Rhot1 G A 11: 80,141,885 (GRCm39) R463H probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Selenom A T 11: 3,464,915 (GRCm39) probably benign Het
Selenop T C 15: 3,308,947 (GRCm39) C300R probably damaging Het
Skint1 T A 4: 111,878,679 (GRCm39) S204T probably benign Het
Ss18l1 A G 2: 179,703,706 (GRCm39) N313S unknown Het
Sycp2l A G 13: 41,295,200 (GRCm39) D289G probably damaging Het
Terf1 C T 1: 15,889,221 (GRCm39) H188Y probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Trdn A G 10: 33,181,065 (GRCm39) T357A probably damaging Het
Trip11 A C 12: 101,856,859 (GRCm39) M401R probably benign Het
Ubald2 A C 11: 116,325,211 (GRCm39) D26A probably benign Het
Ube2w C G 1: 16,689,508 (GRCm39) probably benign Het
Vmn2r101 T A 17: 19,811,267 (GRCm39) S450R 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
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
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 2018-02-27