Incidental Mutation 'R1815:Afg3l2'
ID 202683
Institutional Source Beutler Lab
Gene Symbol Afg3l2
Ensembl Gene ENSMUSG00000024527
Gene Name AFG3-like AAA ATPase 2
Synonyms Emv66, 2310036I02Rik, par
MMRRC Submission 039843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1815 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 67537834-67582242 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 67548643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 529 (L529*)
Ref Sequence ENSEMBL: ENSMUSP00000025408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025408]
AlphaFold Q8JZQ2
Predicted Effect probably null
Transcript: ENSMUST00000025408
AA Change: L529*
SMART Domains Protein: ENSMUSP00000025408
Gene: ENSMUSG00000024527
AA Change: L529*

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: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,083,905 (GRCm39) T492A probably damaging Het
Ak9 A G 10: 41,213,572 (GRCm39) E259G probably damaging Het
Apol11b T A 15: 77,519,772 (GRCm39) I103F probably damaging Het
Atp7b T C 8: 22,501,667 (GRCm39) M864V possibly damaging Het
Atp8a2 A G 14: 60,324,073 (GRCm39) L60P probably damaging Het
Begain T C 12: 109,000,033 (GRCm39) Y451C probably damaging Het
Bmpr1b A T 3: 141,586,124 (GRCm39) I46N probably benign Het
Bms1 T A 6: 118,360,742 (GRCm39) K1242M probably damaging Het
Calcoco1 A G 15: 102,622,358 (GRCm39) L254P probably damaging Het
Ccdc112 A T 18: 46,424,173 (GRCm39) N188K possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdkal1 A G 13: 29,901,774 (GRCm39) V132A possibly damaging Het
Cdo1 A G 18: 46,853,369 (GRCm39) C130R probably damaging Het
Cep295nl G T 11: 118,223,474 (GRCm39) R457S probably damaging Het
Cntn1 A T 15: 92,148,829 (GRCm39) I359F probably benign Het
Csnk1g1 T C 9: 65,939,606 (GRCm39) V435A probably damaging Het
Csnka2ip A G 16: 64,298,855 (GRCm39) V59A probably benign Het
Ddr2 A T 1: 169,823,170 (GRCm39) Y371* probably null Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Dnah2 T C 11: 69,366,400 (GRCm39) I1901V probably damaging Het
Fanci T A 7: 79,088,056 (GRCm39) I903N probably damaging Het
Fastk T C 5: 24,646,529 (GRCm39) Q471R probably damaging Het
Flvcr1 A T 1: 190,757,577 (GRCm39) N238K probably damaging Het
Gsdmc3 A T 15: 63,740,965 (GRCm39) L61H probably damaging Het
H2-M10.5 T A 17: 37,084,836 (GRCm39) C187S probably damaging Het
Hmcn2 T C 2: 31,283,055 (GRCm39) I1977T probably damaging Het
Itpr2 T A 6: 146,260,914 (GRCm39) I905F probably benign Het
Jmy C T 13: 93,590,585 (GRCm39) G506D probably damaging Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Klhdc7b A G 15: 89,271,800 (GRCm39) E894G probably damaging Het
Klra7 T C 6: 130,201,070 (GRCm39) I229V probably benign Het
Krt35 T C 11: 99,986,565 (GRCm39) T150A probably benign Het
Krtap20-1 T C 16: 88,812,337 (GRCm39) probably benign Het
Lct T C 1: 128,227,896 (GRCm39) Y1199C probably damaging Het
Lmbrd1 T A 1: 24,724,642 (GRCm39) N75K possibly damaging Het
Lss T C 10: 76,388,798 (GRCm39) S700P probably damaging Het
Ltbp1 A T 17: 75,559,375 (GRCm39) Q288L probably benign Het
Mical2 A G 7: 112,012,109 (GRCm39) E653G probably damaging Het
Mphosph10 G T 7: 64,041,918 (GRCm39) Q9K probably benign Het
Muc15 T A 2: 110,561,603 (GRCm39) L13Q probably damaging Het
Ncf4 A G 15: 78,134,602 (GRCm39) D18G probably benign Het
Nipsnap1 A G 11: 4,839,101 (GRCm39) Y127C probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Or8g18 T C 9: 39,149,286 (GRCm39) I145V probably benign Het
Otud4 T A 8: 80,366,618 (GRCm39) Y28* probably null Het
Pdcd2l G A 7: 33,885,826 (GRCm39) T286I probably benign Het
Pgbd1 A G 13: 21,607,342 (GRCm39) V284A probably damaging Het
Phlpp2 C A 8: 110,666,855 (GRCm39) T1128K probably damaging Het
Pik3cb A G 9: 98,975,148 (GRCm39) V244A possibly damaging Het
Pld1 A G 3: 28,163,917 (GRCm39) I783M probably benign Het
Plk5 T C 10: 80,199,855 (GRCm39) V454A probably benign Het
Prkci T C 3: 31,092,644 (GRCm39) S309P probably damaging Het
Prx A T 7: 27,216,090 (GRCm39) D197V probably damaging Het
Ptpn5 A G 7: 46,728,589 (GRCm39) L537P probably benign Het
Rev3l T A 10: 39,698,867 (GRCm39) N1121K probably benign Het
Rock2 T A 12: 17,022,727 (GRCm39) D1055E probably benign Het
Rrp1b T C 17: 32,275,785 (GRCm39) V444A probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 CG CGACGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rsf1 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
S1pr2 G A 9: 20,879,388 (GRCm39) R147* probably null Het
Serpinb9b A T 13: 33,223,887 (GRCm39) I360F probably damaging Het
Smc6 T C 12: 11,344,602 (GRCm39) probably null Het
Srsf11 C T 3: 157,722,064 (GRCm39) probably benign Het
Sstr1 T C 12: 58,260,264 (GRCm39) F296L possibly damaging Het
Tecrl T A 5: 83,427,081 (GRCm39) I356L probably benign Het
Tln2 A G 9: 67,136,705 (GRCm39) I2348T probably damaging Het
Tmed11 T A 5: 108,925,291 (GRCm39) I174L probably benign Het
Tmem132a G A 19: 10,838,931 (GRCm39) Q504* probably null Het
Unc5c A T 3: 141,463,518 (GRCm39) D213V probably damaging Het
Utp25 A C 1: 192,800,591 (GRCm39) S410A probably benign Het
Vgll4 T C 6: 114,841,020 (GRCm39) D92G probably benign Het
Vps37a T C 8: 40,965,162 (GRCm39) F5L probably benign Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zeb1 G A 18: 5,767,898 (GRCm39) C803Y probably damaging Het
Zmym1 T C 4: 126,942,814 (GRCm39) T427A possibly damaging 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
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
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'- AGAGAAATCATGGACTGGAGATTTC -3'
(R):5'- ATTTTAGCTCCCAGGGCCAAG -3'

Sequencing Primer
(F):5'- ATGGACTGGAGATTTCTTTTATGAGC -3'
(R):5'- CCCAGGGCCAAGATTATATAGCTTG -3'
Posted On 2014-06-23