Incidental Mutation 'R9220:Afg3l2'
ID 699433
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9220 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 67562266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 270 (I270L)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect probably benign
Transcript: ENSMUST00000025408
AA Change: I270L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: I270L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Akap6 A T 12: 53,187,232 (GRCm39) I1549F possibly damaging Het
Ank2 T C 3: 126,737,086 (GRCm39) T2933A unknown Het
Atp1a3 C A 7: 24,696,625 (GRCm39) E309* probably null Het
B4galt2 T C 4: 117,734,399 (GRCm39) Y250C probably damaging Het
Bcl2l13 C A 6: 120,847,735 (GRCm39) T129K possibly damaging Het
Bltp3b A T 10: 89,626,457 (GRCm39) T384S probably benign Het
Clp1 A T 2: 84,554,076 (GRCm39) H364Q probably damaging Het
Ddx27 T C 2: 166,871,433 (GRCm39) V510A probably benign Het
Dicer1 A G 12: 104,679,415 (GRCm39) C521R probably damaging Het
Dnah10 A T 5: 124,871,437 (GRCm39) I2486F probably benign Het
Eml1 C A 12: 108,480,702 (GRCm39) C389* probably null Het
Fabp6 C T 11: 43,489,572 (GRCm39) G23D probably benign Het
Fam3b A T 16: 97,302,111 (GRCm39) S38T probably benign Het
Fsd1l A T 4: 53,679,799 (GRCm39) K166* probably null Het
Galc A G 12: 98,220,523 (GRCm39) S115P probably damaging Het
Gpn1 G A 5: 31,664,884 (GRCm39) A303T probably benign Het
Grid2 A T 6: 63,885,888 (GRCm39) S95C probably damaging Het
Helz T A 11: 107,560,873 (GRCm39) S1312T probably benign Het
Matn2 T C 15: 34,410,325 (GRCm39) F506L possibly damaging Het
Mcemp1 A G 8: 3,717,512 (GRCm39) S148G probably benign Het
Minar1 T A 9: 89,484,398 (GRCm39) D333V probably damaging Het
Ndrg1 A G 15: 66,805,711 (GRCm39) probably null Het
Nlrp4a A T 7: 26,149,523 (GRCm39) N377Y probably damaging Het
Nox4 C T 7: 86,970,774 (GRCm39) T217I probably benign Het
Or7g21 T C 9: 19,033,193 (GRCm39) F311S possibly damaging Het
Or8b52 A T 9: 38,576,803 (GRCm39) Y112* probably null Het
Phf8-ps T C 17: 33,286,494 (GRCm39) I103V probably benign Het
Plekhd1 T A 12: 80,768,726 (GRCm39) F403Y possibly damaging Het
Plekhg1 T C 10: 3,913,805 (GRCm39) S1231P Het
Plekhg3 T A 12: 76,618,839 (GRCm39) M497K probably benign Het
Rpap1 T C 2: 119,604,669 (GRCm39) H413R probably damaging Het
Rragd A G 4: 32,995,924 (GRCm39) T90A probably damaging Het
Septin9 T C 11: 117,242,396 (GRCm39) M286T probably benign Het
Shpk GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA GA 11: 73,113,996 (GRCm39) probably null Het
Slc22a2 T A 17: 12,838,757 (GRCm39) D528E probably benign Het
Slirp G A 12: 87,494,376 (GRCm39) R47K probably benign Het
Sncg T C 14: 34,096,474 (GRCm39) T22A possibly damaging Het
Tnfrsf21 A G 17: 43,398,801 (GRCm39) S636G probably damaging Het
Unc80 T G 1: 66,546,534 (GRCm39) S535R probably damaging Het
Vmn1r149 A T 7: 22,137,378 (GRCm39) S93T probably benign Het
Vps13d A G 4: 144,783,058 (GRCm39) Y3957H Het
Wdr35 T A 12: 9,036,000 (GRCm39) V257E possibly damaging Het
Wscd1 A G 11: 71,662,750 (GRCm39) T264A probably benign Het
Zfp266 G A 9: 20,413,337 (GRCm39) Q108* probably null Het
Zfp62 T A 11: 49,106,075 (GRCm39) S55R 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
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
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'- TGCTCCTAGGTCTTGATATTGC -3'
(R):5'- AAGATTCTCCTGTGCCTCACG -3'

Sequencing Primer
(F):5'- GCTTTGGGTTTTTCAAGAAATTCACG -3'
(R):5'- TCCTGTGCCTCACGTAAATTACAAG -3'
Posted On 2022-02-07