Incidental Mutation 'R2170:Atxn2l'
ID 237430
Institutional Source Beutler Lab
Gene Symbol Atxn2l
Ensembl Gene ENSMUSG00000032637
Gene Name ataxin 2-like
Synonyms A2LG, A2RP, A2lp, A2D
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R2170 (G1)
Quality Score 217
Status Not validated
Chromosome 7
Chromosomal Location 126090880-126102609 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 126102411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000166682] [ENSMUST00000167759] [ENSMUST00000179818] [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: 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: ENSMUST00000179818
SMART Domains Protein: ENSMUSP00000137108
Gene: ENSMUSG00000032637

DomainStartEndE-ValueType
Pfam:SM-ATX 62 132 4.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206577
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,896 (GRCm39) S404P probably damaging Het
4933434E20Rik T A 3: 89,963,611 (GRCm39) L89Q probably benign Het
Bcl6 A G 16: 23,793,680 (GRCm39) F89S probably damaging Het
Ccdc168 A T 1: 44,095,168 (GRCm39) S1977T probably benign Het
Ccr1l1 C A 9: 123,778,172 (GRCm39) V92F possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Chrne T C 11: 70,509,323 (GRCm39) N86S probably damaging Het
Copg2 CCTCATC CC 6: 30,789,757 (GRCm39) probably null Het
Elapor2 A G 5: 9,529,206 (GRCm39) D221G probably damaging Het
Eps8l2 T C 7: 140,921,984 (GRCm39) S21P probably benign Het
Glb1 CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 9: 114,302,873 (GRCm39) probably benign Het
Gngt2 A G 11: 95,728,071 (GRCm39) probably benign Het
Hecw2 T A 1: 53,981,956 (GRCm39) E135V probably damaging Het
Hmcn2 G A 2: 31,270,293 (GRCm39) A1177T probably benign Het
Itga10 T C 3: 96,557,773 (GRCm39) V272A probably damaging Het
Kif17 A G 4: 138,015,682 (GRCm39) I418M probably benign Het
Knl1 T C 2: 118,918,075 (GRCm39) probably null Het
Lamc1 C T 1: 153,124,888 (GRCm39) A628T probably benign Het
Mag A T 7: 30,608,412 (GRCm39) L234* probably null Het
Muc5ac T A 7: 141,366,084 (GRCm39) V2080E possibly damaging Het
Myo18b T C 5: 112,871,724 (GRCm39) D2119G probably benign Het
Ncam1 C T 9: 49,709,981 (GRCm39) A17T probably benign Het
Nipbl A G 15: 8,322,702 (GRCm39) Y2570H probably damaging Het
Oasl2 T C 5: 115,044,861 (GRCm39) V129A probably damaging Het
Or14a257 T A 7: 86,137,778 (GRCm39) H327L probably benign Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Podn A T 4: 107,879,730 (GRCm39) L85Q probably damaging Het
Ppp1r12c A T 7: 4,485,805 (GRCm39) D680E possibly damaging Het
Prdm14 G A 1: 13,192,684 (GRCm39) L352F probably damaging Het
Prob1 G T 18: 35,787,790 (GRCm39) Q155K probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Shoc1 A G 4: 59,069,215 (GRCm39) L737S possibly damaging Het
Stard5 A G 7: 83,282,366 (GRCm39) T60A probably benign Het
Syt7 A G 19: 10,416,744 (GRCm39) K402E probably damaging Het
Tll2 T A 19: 41,171,714 (GRCm39) D69V probably damaging Het
Vmn1r40 T C 6: 89,691,957 (GRCm39) F258S probably benign Het
Zfp759 T A 13: 67,284,812 (GRCm39) Y19N possibly damaging 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
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
R8929:Atxn2l UTSW 7 126,092,928 (GRCm39) splice site probably benign
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'- TAAGATGCTTTCGGCTCCG -3'
(R):5'- TTTAAGGTGGCTCAGAACCTAG -3'

Sequencing Primer
(F):5'- CCAGGCACGGAGAGACC -3'
(R):5'- GGAACTAACCGCCTGGC -3'
Posted On 2014-10-02