Incidental Mutation 'R7870:Atxn2l'
ID 608050
Institutional Source Beutler Lab
Gene Symbol Atxn2l
Ensembl Gene ENSMUSG00000032637
Gene Name ataxin 2-like
Synonyms A2LG, A2RP, A2lp, A2D
MMRRC Submission 045922-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R7870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126090880-126102609 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126091924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 968 (F968L)
Ref Sequence ENSEMBL: ENSMUSP00000132959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000098048] [ENSMUST00000106392] [ENSMUST00000166682] [ENSMUST00000167759] [ENSMUST00000206055] [ENSMUST00000206265] [ENSMUST00000206572] [ENSMUST00000206577] [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
AA Change: F968L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: F968L

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 null
Transcript: ENSMUST00000206577
Predicted Effect probably null
Transcript: ENSMUST00000206577
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,441,505 (GRCm39) F171L probably benign Het
2410137M14Rik A T 17: 37,288,909 (GRCm39) C152S unknown Het
Alb T C 5: 90,620,488 (GRCm39) F533L possibly damaging Het
Alox12b T C 11: 69,060,135 (GRCm39) M616T possibly damaging Het
Cadps2 G T 6: 23,263,641 (GRCm39) H1227Q probably benign Het
Cdh18 A T 15: 23,474,413 (GRCm39) D761V possibly damaging Het
Cdkl3 T C 11: 51,909,284 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,249 (GRCm39) L9P unknown Het
Ctr9 A G 7: 110,651,618 (GRCm39) E946G unknown Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Cyp2c67 A C 19: 39,597,669 (GRCm39) M443R probably damaging Het
Dnah12 A G 14: 26,578,486 (GRCm39) T3082A probably benign Het
Flnc C T 6: 29,454,306 (GRCm39) T1906I probably damaging Het
Gm14496 A G 2: 181,637,906 (GRCm39) I327V probably benign Het
Gm29106 T A 1: 118,126,885 (GRCm39) N192K possibly damaging Het
H3f3a A T 1: 180,639,490 (GRCm39) M1K probably null Het
Htt T A 5: 35,055,891 (GRCm39) W2601R possibly damaging Het
Il18r1 T A 1: 40,530,296 (GRCm39) I341K probably benign Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Lrp3 C A 7: 34,910,922 (GRCm39) G41V probably damaging Het
Lrrc9 G T 12: 72,532,964 (GRCm39) K944N probably damaging Het
Mettl21e T A 1: 44,249,371 (GRCm39) E95V probably damaging Het
Mib1 G A 18: 10,798,446 (GRCm39) R769Q possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Mymk A G 2: 26,952,298 (GRCm39) S190P probably damaging Het
Neb G A 2: 52,215,761 (GRCm39) P182L probably damaging Het
Nfil3 A G 13: 53,122,449 (GRCm39) Y152H probably damaging Het
Nisch A G 14: 30,894,052 (GRCm39) Y1174H probably damaging Het
Nyap1 G C 5: 137,733,658 (GRCm39) Y458* probably null Het
Or4d5 A C 9: 40,011,973 (GRCm39) V271G possibly damaging Het
Or52z13 T A 7: 103,247,473 (GRCm39) C317S probably damaging Het
Or5h17 G A 16: 58,820,086 (GRCm39) V13I probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Patj G T 4: 98,312,553 (GRCm39) G297V probably damaging Het
Pcdh9 A T 14: 94,124,693 (GRCm39) S492R probably damaging Het
Pcyox1 G A 6: 86,369,323 (GRCm39) R168C probably damaging Het
Plbd1 A T 6: 136,594,326 (GRCm39) Y308N possibly damaging Het
Rax A G 18: 66,071,284 (GRCm39) V117A probably benign Het
Rdh9 C A 10: 127,612,566 (GRCm39) N71K probably benign Het
Sap130 A G 18: 31,853,714 (GRCm39) N968S probably benign Het
Sema5a A T 15: 32,609,485 (GRCm39) I464F probably benign Het
Sez6l T G 5: 112,586,447 (GRCm39) D683A probably damaging Het
Slit2 C A 5: 48,459,649 (GRCm39) P1310T probably damaging Het
Snap47 T C 11: 59,328,904 (GRCm39) M133V probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Srcap G A 7: 127,159,730 (GRCm39) S3202N unknown Het
Ssh2 T C 11: 77,344,441 (GRCm39) W809R probably benign Het
Stau1 G T 2: 166,792,870 (GRCm39) A365D possibly damaging Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Thbs1 A T 2: 117,945,508 (GRCm39) N329I possibly damaging Het
Tmem65 A T 15: 58,659,010 (GRCm39) D184E probably damaging Het
Trpm6 G T 19: 18,792,605 (GRCm39) E676D probably benign Het
Vdr T G 15: 97,782,771 (GRCm39) D17A possibly damaging Het
Vmn1r123 C T 7: 20,896,192 (GRCm39) T28I probably damaging Het
Wdr90 A G 17: 26,079,513 (GRCm39) L207P probably damaging Het
Zfp354c TGTCACACTCG TG 11: 50,706,065 (GRCm39) probably benign Het
Zfp598 A G 17: 24,898,304 (GRCm39) E402G probably 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
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
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'- GATCACAACTGAGCGAGGAC -3'
(R):5'- AAACTGGAGTCACAGCAGC -3'

Sequencing Primer
(F):5'- CCAGGAGCAAGCCCCTG -3'
(R):5'- CCAGGTGATGCTGCTGC -3'
Posted On 2019-12-20