Incidental Mutation 'R6178:Afg3l2'
ID 487906
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission 044320-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6178 (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 A at 67542598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 616 (T616I)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000025408
AA Change: T616I

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: T616I

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (54/55)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,678,468 (GRCm39) I61V probably benign Het
Aktip T C 8: 91,852,671 (GRCm39) N195S probably damaging Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Atg7 T A 6: 114,701,856 (GRCm39) I621N probably damaging Het
Becn1 T A 11: 101,182,336 (GRCm39) I283F probably damaging Het
Btnl12 T C 16: 37,676,422 (GRCm39) Y115C probably damaging Het
C4b T C 17: 34,952,380 (GRCm39) T1220A probably benign Het
Celsr1 C A 15: 85,785,222 (GRCm39) R3004M probably benign Het
Clspn A T 4: 126,471,529 (GRCm39) probably null Het
Csmd3 T C 15: 48,536,854 (GRCm39) Y116C probably damaging Het
Dcp1a T G 14: 30,245,261 (GRCm39) *603G probably null Het
Dmrtc1b C T X: 101,757,169 (GRCm39) P205S possibly damaging Het
Fev G T 1: 74,923,698 (GRCm39) probably benign Het
Fry T A 5: 150,377,987 (GRCm39) V393E probably damaging Het
Gm30646 A G 7: 30,132,081 (GRCm39) probably null Het
Gm3676 C T 14: 41,363,452 (GRCm39) E175K probably benign Het
Gm4847 T C 1: 166,469,905 (GRCm39) Y56C probably damaging Het
Gm5422 T C 10: 31,125,688 (GRCm39) noncoding transcript Het
Gstm6 A G 3: 107,848,397 (GRCm39) V174A probably benign Het
Isoc1 G T 18: 58,804,664 (GRCm39) V191F possibly damaging Het
Kalrn T A 16: 33,874,009 (GRCm39) D132V possibly damaging Het
Kcp T C 6: 29,482,887 (GRCm39) D1394G possibly damaging Het
Marchf10 T G 11: 105,280,440 (GRCm39) D615A probably damaging Het
Mau2 A G 8: 70,495,187 (GRCm39) I50T probably damaging Het
Mgp A G 6: 136,849,722 (GRCm39) C79R probably damaging Het
Mpdz T A 4: 81,226,602 (GRCm39) K1344N probably damaging Het
Mrgpre T A 7: 143,334,708 (GRCm39) Y265F possibly damaging Het
Mro G A 18: 74,006,295 (GRCm39) V80M possibly damaging Het
Mrpl44 G T 1: 79,755,895 (GRCm39) C167F possibly damaging Het
Muc5b A G 7: 141,410,079 (GRCm39) M1218V probably null Het
Naa16 T C 14: 79,620,780 (GRCm39) I100V possibly damaging Het
Nup205 A T 6: 35,220,778 (GRCm39) Y1860F possibly damaging Het
Or10aa3 A T 1: 173,878,533 (GRCm39) Y198F probably benign Het
Or14c40 A G 7: 86,313,819 (GRCm39) I316M probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4c103 T C 2: 88,513,977 (GRCm39) Y33C probably damaging Het
Plcb3 A G 19: 6,932,071 (GRCm39) probably null Het
Pnpla3 G A 15: 84,065,132 (GRCm39) A309T probably benign Het
Ranbp10 A G 8: 106,498,296 (GRCm39) S624P possibly damaging Het
Ripor2 T C 13: 24,894,113 (GRCm39) S714P possibly damaging Het
Robo4 C T 9: 37,316,926 (GRCm39) Q414* probably null Het
Shc2 A G 10: 79,465,954 (GRCm39) I161T probably damaging Het
Slc35b2 C T 17: 45,877,302 (GRCm39) T143I probably benign Het
Slc39a13 T C 2: 90,898,880 (GRCm39) D77G probably damaging Het
Snx6 A C 12: 54,807,249 (GRCm39) D243E probably damaging Het
Taar8b A G 10: 23,967,711 (GRCm39) V161A probably benign Het
Tbr1 T A 2: 61,635,159 (GRCm39) D36E possibly damaging Het
Tdpoz2 T C 3: 93,559,618 (GRCm39) N118S probably benign Het
Tgfb1i1 T C 7: 127,852,517 (GRCm39) F478L probably damaging Het
Tmprss11f T C 5: 86,704,837 (GRCm39) D27G probably benign Het
Trim30d T G 7: 104,137,202 (GRCm39) M1L probably damaging Het
Trpm7 A G 2: 126,679,301 (GRCm39) V420A probably damaging Het
Ubap2 G T 4: 41,206,981 (GRCm39) P199H probably benign Het
Ubash3b T C 9: 40,926,212 (GRCm39) T512A probably damaging Het
Zfp65 G A 13: 67,858,437 (GRCm39) P76S probably benign Het
Zic5 A T 14: 122,696,748 (GRCm39) H622Q unknown Het
Zpld1 A T 16: 55,053,993 (GRCm39) N266K probably damaging Het
Zswim1 A G 2: 164,667,972 (GRCm39) probably null 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
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'- TGCAAAGGCTGATTCCCAGG -3'
(R):5'- ACGTGCTTTCTGGGCCTAAC -3'

Sequencing Primer
(F):5'- CTGATTCCCAGGCAGGTAAG -3'
(R):5'- CTTTCTGGGCCTAACTCGGG -3'
Posted On 2017-10-10