Incidental Mutation 'R8929:Atxn2l'
ID 700952
Institutional Source Beutler Lab
Gene Symbol Atxn2l
Ensembl Gene ENSMUSG00000032637
Gene Name ataxin 2-like
Synonyms A2LG, A2RP, A2lp, A2D
MMRRC Submission 068773-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R8929 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126090880-126102609 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to G at 126092928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000098048] [ENSMUST00000106392] [ENSMUST00000166682] [ENSMUST00000167759] [ENSMUST00000206055] [ENSMUST00000206265] [ENSMUST00000206572] [ENSMUST00000206577]
AlphaFold Q7TQH0
Predicted Effect probably benign
Transcript: ENSMUST00000040202
SMART Domains Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 36 54 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
Pfam:SM-ATX 119 189 8.5e-21 PFAM
LsmAD 262 331 1.95e-28 SMART
low complexity region 357 382 N/A INTRINSIC
low complexity region 450 470 N/A INTRINSIC
Pfam:PAM2 657 672 5.6e-8 PFAM
low complexity region 681 697 N/A INTRINSIC
low complexity region 764 787 N/A INTRINSIC
low complexity region 920 947 N/A INTRINSIC
low complexity region 979 991 N/A INTRINSIC
low complexity region 997 1008 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098048
SMART Domains Protein: ENSMUSP00000095656
Gene: ENSMUSG00000073838

DomainStartEndE-ValueType
Pfam:GTP_EFTU 55 249 2e-55 PFAM
Pfam:GTP_EFTU_D2 272 341 1.3e-15 PFAM
Pfam:GTP_EFTU_D3 345 440 1.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106392
SMART Domains Protein: ENSMUSP00000102000
Gene: ENSMUSG00000073838

DomainStartEndE-ValueType
Pfam:GTP_EFTU 55 249 2.7e-57 PFAM
Pfam:GTP_EFTU_D2 272 341 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166682
SMART Domains Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637

DomainStartEndE-ValueType
Pfam:SM-ATX 1 69 1.6e-21 PFAM
LsmAD 142 211 1.95e-28 SMART
low complexity region 237 262 N/A INTRINSIC
low complexity region 330 350 N/A INTRINSIC
Pfam:PAM2 537 553 4.3e-8 PFAM
low complexity region 561 577 N/A INTRINSIC
low complexity region 644 667 N/A INTRINSIC
low complexity region 800 827 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167759
SMART Domains Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637

DomainStartEndE-ValueType
Pfam:SM-ATX 33 103 8.1e-23 PFAM
LsmAD 176 245 1.95e-28 SMART
low complexity region 271 296 N/A INTRINSIC
low complexity region 364 384 N/A INTRINSIC
Pfam:PAM2 571 587 4.2e-8 PFAM
low complexity region 595 611 N/A INTRINSIC
low complexity region 678 701 N/A INTRINSIC
low complexity region 834 861 N/A INTRINSIC
low complexity region 893 905 N/A INTRINSIC
low complexity region 911 922 N/A INTRINSIC
low complexity region 944 960 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206055
Predicted Effect probably benign
Transcript: ENSMUST00000206265
Predicted Effect probably benign
Transcript: ENSMUST00000206572
Predicted Effect probably benign
Transcript: ENSMUST00000206577
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1 A G 2: 179,814,730 (GRCm39) K99E unknown Het
Agxt2 C A 15: 10,393,830 (GRCm39) L375I probably benign Het
Akap13 T C 7: 75,258,752 (GRCm39) S459P probably benign Het
Arfgef3 T A 10: 18,479,203 (GRCm39) T1471S probably damaging Het
Azi2 C A 9: 117,879,044 (GRCm39) T141K probably damaging Het
B4galt6 A G 18: 20,821,422 (GRCm39) S369P possibly damaging Het
BC051019 C T 7: 109,315,233 (GRCm39) E341K probably damaging Het
Bdh1 G A 16: 31,275,712 (GRCm39) D278N probably benign Het
Cdh1 ACTCGAAATGATGTGGCTC ACTC 8: 107,392,870 (GRCm39) probably benign Het
Cdipt T G 7: 126,578,825 (GRCm39) D205E probably damaging Het
Clec4b1 G T 6: 123,046,728 (GRCm39) probably null Het
Clip4 T C 17: 72,138,203 (GRCm39) L467S probably damaging Het
Cndp2 A G 18: 84,693,298 (GRCm39) I154T probably benign Het
Cyp2j5 T C 4: 96,546,977 (GRCm39) N179S possibly damaging Het
Dpf1 A T 7: 29,009,174 (GRCm39) I100F probably benign Het
Dppa5a A G 9: 78,275,165 (GRCm39) S46P probably benign Het
Epyc A G 10: 97,511,607 (GRCm39) D200G probably benign Het
Ern2 C T 7: 121,769,363 (GRCm39) A888T probably benign Het
Fndc3b C T 3: 27,596,253 (GRCm39) S112N probably damaging Het
Fras1 T C 5: 96,917,366 (GRCm39) V3462A probably damaging Het
Fstl5 T C 3: 76,615,138 (GRCm39) I733T probably damaging Het
Gdf3 C T 6: 122,586,756 (GRCm39) R57Q Het
Grwd1 A T 7: 45,480,056 (GRCm39) D50E probably damaging Het
Hgf G T 5: 16,798,988 (GRCm39) D339Y probably benign Het
Kat7 T C 11: 95,196,982 (GRCm39) D19G probably damaging Het
Lefty1 A G 1: 180,765,290 (GRCm39) E286G probably damaging Het
Lrriq3 T C 3: 154,893,819 (GRCm39) F507L probably damaging Het
Mcm4 T A 16: 15,448,289 (GRCm39) T423S probably benign Het
Metap1 T C 3: 138,174,643 (GRCm39) K247E probably benign Het
Muc4 A T 16: 32,754,017 (GRCm38) T1298S possibly damaging Het
Muc4 T G 16: 32,575,285 (GRCm39) I1290S probably benign Het
Nars1 G T 18: 64,644,895 (GRCm39) H82Q probably benign Het
Ncapg2 A T 12: 116,415,983 (GRCm39) E1121V probably damaging Het
Nebl C A 2: 17,397,991 (GRCm39) E481* probably null Het
Pdap1 T C 5: 145,069,672 (GRCm39) E111G probably damaging Het
Pds5b T C 5: 150,643,379 (GRCm39) F67S probably damaging Het
Pole T C 5: 110,445,654 (GRCm39) F510S probably damaging Het
Ptpn21 A T 12: 98,655,396 (GRCm39) Y524N probably damaging Het
Ptpn4 A T 1: 119,595,278 (GRCm39) M887K probably damaging Het
Sec24b T C 3: 129,803,507 (GRCm39) D414G possibly damaging Het
Sema5b C A 16: 35,467,737 (GRCm39) probably benign Het
Slain1 A T 14: 103,923,164 (GRCm39) T252S probably damaging Het
Slc36a3 A G 11: 55,028,137 (GRCm39) F164S probably damaging Het
Slc39a7 T C 17: 34,249,964 (GRCm39) H90R unknown Het
Slc44a4 A T 17: 35,136,508 (GRCm39) D58V probably damaging Het
Slc5a4a A G 10: 76,006,617 (GRCm39) T340A probably benign Het
Sod2 C A 17: 13,233,974 (GRCm39) N195K probably damaging Het
Spart T C 3: 55,035,979 (GRCm39) S572P possibly damaging Het
Sytl2 C T 7: 90,024,810 (GRCm39) A266V probably benign Het
Tbx15 T A 3: 99,222,219 (GRCm39) D227E probably damaging Het
Tfap2a A G 13: 40,882,308 (GRCm39) V26A probably benign Het
Trank1 T A 9: 111,208,003 (GRCm39) F1749L possibly damaging Het
Trpc6 A G 9: 8,643,411 (GRCm39) probably benign Het
Ttn A T 2: 76,706,924 (GRCm39) I9089N unknown Het
Tut7 A G 13: 59,947,942 (GRCm39) V793A probably benign Het
Unc13a T C 8: 72,103,835 (GRCm39) T866A probably benign Het
Vmn1r212 T A 13: 23,067,494 (GRCm39) S280C possibly damaging Het
Vmn2r82 A G 10: 79,232,541 (GRCm39) T847A probably benign Het
Zer1 A G 2: 30,000,881 (GRCm39) L180P probably damaging Het
Zfp445 T G 9: 122,682,732 (GRCm39) Y403S probably benign Het
Other mutations in Atxn2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Atxn2l APN 7 126,097,460 (GRCm39) missense possibly damaging 0.94
IGL00507:Atxn2l APN 7 126,095,756 (GRCm39) missense possibly damaging 0.51
IGL00846:Atxn2l APN 7 126,098,350 (GRCm39) missense probably damaging 1.00
IGL01813:Atxn2l APN 7 126,099,425 (GRCm39) missense probably damaging 1.00
PIT4378001:Atxn2l UTSW 7 126,096,443 (GRCm39) missense probably benign 0.11
R0005:Atxn2l UTSW 7 126,097,446 (GRCm39) missense probably damaging 1.00
R0267:Atxn2l UTSW 7 126,092,379 (GRCm39) missense probably damaging 1.00
R0608:Atxn2l UTSW 7 126,100,588 (GRCm39) splice site probably null
R0749:Atxn2l UTSW 7 126,100,009 (GRCm39) missense possibly damaging 0.50
R0831:Atxn2l UTSW 7 126,098,332 (GRCm39) missense probably damaging 1.00
R0881:Atxn2l UTSW 7 126,095,768 (GRCm39) missense probably damaging 1.00
R1022:Atxn2l UTSW 7 126,096,466 (GRCm39) missense probably benign 0.01
R1024:Atxn2l UTSW 7 126,096,466 (GRCm39) missense probably benign 0.01
R1081:Atxn2l UTSW 7 126,093,384 (GRCm39) missense probably damaging 1.00
R1132:Atxn2l UTSW 7 126,093,420 (GRCm39) small deletion probably benign
R1489:Atxn2l UTSW 7 126,095,639 (GRCm39) missense probably damaging 1.00
R1919:Atxn2l UTSW 7 126,092,340 (GRCm39) missense probably damaging 0.99
R2062:Atxn2l UTSW 7 126,095,038 (GRCm39) missense probably damaging 1.00
R2170:Atxn2l UTSW 7 126,102,411 (GRCm39) start gained probably benign
R3719:Atxn2l UTSW 7 126,097,302 (GRCm39) missense probably damaging 1.00
R3861:Atxn2l UTSW 7 126,101,123 (GRCm39) critical splice donor site probably null
R5061:Atxn2l UTSW 7 126,099,375 (GRCm39) missense probably damaging 1.00
R6022:Atxn2l UTSW 7 126,095,607 (GRCm39) critical splice donor site probably null
R6075:Atxn2l UTSW 7 126,091,689 (GRCm39) missense possibly damaging 0.70
R6131:Atxn2l UTSW 7 126,102,337 (GRCm39) unclassified probably benign
R6460:Atxn2l UTSW 7 126,093,420 (GRCm39) small deletion probably benign
R6552:Atxn2l UTSW 7 126,092,993 (GRCm39) missense possibly damaging 0.70
R7167:Atxn2l UTSW 7 126,098,394 (GRCm39) missense possibly damaging 0.76
R7234:Atxn2l UTSW 7 126,092,373 (GRCm39) missense probably damaging 1.00
R7301:Atxn2l UTSW 7 126,093,383 (GRCm39) nonsense probably null
R7432:Atxn2l UTSW 7 126,093,046 (GRCm39) missense possibly damaging 0.46
R7691:Atxn2l UTSW 7 126,091,782 (GRCm39) critical splice acceptor site probably null
R7711:Atxn2l UTSW 7 126,100,441 (GRCm39) missense probably damaging 1.00
R7849:Atxn2l UTSW 7 126,092,345 (GRCm39) missense possibly damaging 0.48
R7870:Atxn2l UTSW 7 126,091,924 (GRCm39) missense probably benign
R8907:Atxn2l UTSW 7 126,099,425 (GRCm39) missense probably damaging 1.00
R8949:Atxn2l UTSW 7 126,091,377 (GRCm39) missense probably damaging 0.99
R8982:Atxn2l UTSW 7 126,093,420 (GRCm39) small deletion probably benign
R9021:Atxn2l UTSW 7 126,094,712 (GRCm39) missense probably benign 0.00
R9127:Atxn2l UTSW 7 126,097,393 (GRCm39) missense probably damaging 1.00
R9769:Atxn2l UTSW 7 126,095,692 (GRCm39) missense probably benign 0.00
RF006:Atxn2l UTSW 7 126,095,063 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATTCCTGGGTCAACCACTC -3'
(R):5'- TGGAAGCTGACAGGACGTTC -3'

Sequencing Primer
(F):5'- TGGGTCAACCACTCAGACCTC -3'
(R):5'- TGACAGGACGTTCCAAGC -3'
Posted On 2022-03-23