Incidental Mutation 'R0267:Atxn2l'
ID 35001
Institutional Source Beutler Lab
Gene Symbol Atxn2l
Ensembl Gene ENSMUSG00000032637
Gene Name ataxin 2-like
Synonyms A2lp, A2D, A2RP, A2LG
MMRRC Submission 038493-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R0267 (G1)
Quality Score 205
Status Validated
Chromosome 7
Chromosomal Location 126491708-126503437 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 126493207 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 950 (Q950P)
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 damaging
Transcript: ENSMUST00000040202
AA Change: Q956P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: Q956P

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 damaging
Transcript: ENSMUST00000166682
AA Change: Q836P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: Q836P

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 damaging
Transcript: ENSMUST00000167759
AA Change: Q870P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: Q870P

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 noncoding transcript
Transcript: ENSMUST00000205346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205478
Predicted Effect probably benign
Transcript: ENSMUST00000206055
Predicted Effect probably damaging
Transcript: ENSMUST00000206265
AA Change: Q57P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206572
Predicted Effect probably damaging
Transcript: ENSMUST00000206577
AA Change: Q950P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.1068 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.7%
  • 10x: 96.2%
  • 20x: 94.0%
Validation Efficiency 97% (64/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,046,105 (GRCm38) F1721S probably damaging Het
Adgrb1 G A 15: 74,529,389 (GRCm38) R78H probably damaging Het
Adgrd1 G A 5: 129,139,594 (GRCm38) A342T probably benign Het
Adrb1 A T 19: 56,723,491 (GRCm38) K374* probably null Het
Aldh18a1 C A 19: 40,573,789 (GRCm38) V264F probably benign Het
Aldh1l2 C T 10: 83,522,687 (GRCm38) probably benign Het
Alox15 T A 11: 70,346,153 (GRCm38) H393L probably damaging Het
Aox2 A G 1: 58,339,446 (GRCm38) probably benign Het
Appbp2 T C 11: 85,201,462 (GRCm38) Y297C probably damaging Het
Bicd1 A T 6: 149,517,042 (GRCm38) D737V probably damaging Het
C9 T C 15: 6,467,458 (GRCm38) I212T probably benign Het
Ccdc63 A T 5: 122,117,044 (GRCm38) probably benign Het
Chst1 C A 2: 92,613,606 (GRCm38) P141Q probably damaging Het
Cped1 T A 6: 22,119,476 (GRCm38) F311L probably damaging Het
D6Wsu163e T A 6: 126,946,491 (GRCm38) H113Q probably benign Het
Dcn A T 10: 97,506,483 (GRCm38) probably benign Het
Dmbx1 C T 4: 115,918,112 (GRCm38) A324T probably benign Het
Dock10 G T 1: 80,512,454 (GRCm38) Q1618K probably damaging Het
Dpyd A G 3: 118,917,272 (GRCm38) E443G probably benign Het
Espl1 T C 15: 102,313,017 (GRCm38) V953A possibly damaging Het
Exosc10 T C 4: 148,562,756 (GRCm38) L174P probably damaging Het
Foxg1 A G 12: 49,385,582 (GRCm38) Y366C probably damaging Het
Fxyd3 T C 7: 31,070,734 (GRCm38) probably benign Het
Gbp2 T C 3: 142,630,106 (GRCm38) V189A probably benign Het
Gins4 T C 8: 23,229,410 (GRCm38) probably benign Het
Gm12789 A G 4: 101,988,122 (GRCm38) T3A probably benign Het
Gnb1l T C 16: 18,548,089 (GRCm38) probably benign Het
Gtpbp3 T C 8: 71,491,497 (GRCm38) L295S probably damaging Het
Hrh4 C A 18: 13,022,398 (GRCm38) Y331* probably null Het
Hsd11b1 A T 1: 193,241,397 (GRCm38) Y52N probably damaging Het
Jam3 A G 9: 27,106,405 (GRCm38) I29T probably benign Het
Kctd16 T A 18: 40,530,877 (GRCm38) I353N probably benign Het
Lama4 G T 10: 39,028,639 (GRCm38) G246C probably damaging Het
Lhx3 T A 2: 26,203,028 (GRCm38) M137L probably benign Het
Morc2a T C 11: 3,678,567 (GRCm38) I340T probably benign Het
Myo7a A C 7: 98,054,624 (GRCm38) I1969S probably benign Het
Olfr1471 T A 19: 13,445,428 (GRCm38) C139S probably damaging Het
Olfr304 T C 7: 86,386,267 (GRCm38) E131G possibly damaging Het
Olfr429 A G 1: 174,089,166 (GRCm38) N42S probably damaging Het
Pclo T C 5: 14,681,180 (GRCm38) L3232P unknown Het
Polr1a T G 6: 71,974,139 (GRCm38) I1407M probably damaging Het
Ppip5k2 A G 1: 97,728,997 (GRCm38) V817A probably damaging Het
Rbfox3 T C 11: 118,495,240 (GRCm38) T280A probably benign Het
Rfx3 T C 19: 27,793,788 (GRCm38) D521G probably benign Het
Scn5a C T 9: 119,543,135 (GRCm38) V223I probably damaging Het
Sgsm3 T G 15: 81,006,602 (GRCm38) M119R probably damaging Het
Slc6a7 T A 18: 60,996,711 (GRCm38) M608L probably benign Het
Slit2 A G 5: 48,182,331 (GRCm38) probably benign Het
Steap2 T A 5: 5,673,561 (GRCm38) I440F probably benign Het
Syn2 T G 6: 115,254,150 (GRCm38) probably benign Het
Taar2 G A 10: 23,941,495 (GRCm38) R311H probably benign Het
Tfb2m G A 1: 179,533,638 (GRCm38) H262Y probably benign Het
Trmt1l A G 1: 151,457,675 (GRCm38) probably benign Het
Trpm6 C A 19: 18,823,378 (GRCm38) P819T probably benign Het
Ttn G A 2: 76,743,689 (GRCm38) A25620V probably damaging Het
Ubn2 T C 6: 38,482,618 (GRCm38) probably null Het
Vars T C 17: 35,011,596 (GRCm38) probably benign Het
Vip A T 10: 5,644,004 (GRCm38) D119V possibly damaging Het
Vmn2r92 C T 17: 18,167,957 (GRCm38) A408V probably damaging Het
Vps33b T C 7: 80,286,054 (GRCm38) I405T possibly damaging Het
Zbtb21 T A 16: 97,952,100 (GRCm38) S356C probably damaging Het
Zdhhc6 A T 19: 55,308,930 (GRCm38) S237T probably benign Het
Zfp142 G A 1: 74,576,064 (GRCm38) A427V probably benign Het
Zfp692 T A 11: 58,314,314 (GRCm38) V463E possibly damaging Het
Zmynd8 A T 2: 165,828,402 (GRCm38) I384N probably damaging Het
Other mutations in Atxn2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Atxn2l APN 7 126,498,288 (GRCm38) missense possibly damaging 0.94
IGL00507:Atxn2l APN 7 126,496,584 (GRCm38) missense possibly damaging 0.51
IGL00846:Atxn2l APN 7 126,499,178 (GRCm38) missense probably damaging 1.00
IGL01813:Atxn2l APN 7 126,500,253 (GRCm38) missense probably damaging 1.00
PIT4378001:Atxn2l UTSW 7 126,497,271 (GRCm38) missense probably benign 0.11
R0005:Atxn2l UTSW 7 126,498,274 (GRCm38) missense probably damaging 1.00
R0608:Atxn2l UTSW 7 126,501,416 (GRCm38) splice site probably null
R0749:Atxn2l UTSW 7 126,500,837 (GRCm38) missense possibly damaging 0.50
R0831:Atxn2l UTSW 7 126,499,160 (GRCm38) missense probably damaging 1.00
R0881:Atxn2l UTSW 7 126,496,596 (GRCm38) missense probably damaging 1.00
R1022:Atxn2l UTSW 7 126,497,294 (GRCm38) missense probably benign 0.01
R1024:Atxn2l UTSW 7 126,497,294 (GRCm38) missense probably benign 0.01
R1081:Atxn2l UTSW 7 126,494,212 (GRCm38) missense probably damaging 1.00
R1132:Atxn2l UTSW 7 126,494,248 (GRCm38) small deletion probably benign
R1489:Atxn2l UTSW 7 126,496,467 (GRCm38) missense probably damaging 1.00
R1919:Atxn2l UTSW 7 126,493,168 (GRCm38) missense probably damaging 0.99
R2062:Atxn2l UTSW 7 126,495,866 (GRCm38) missense probably damaging 1.00
R2170:Atxn2l UTSW 7 126,503,239 (GRCm38) start gained probably benign
R3719:Atxn2l UTSW 7 126,498,130 (GRCm38) missense probably damaging 1.00
R3861:Atxn2l UTSW 7 126,501,951 (GRCm38) critical splice donor site probably null
R5061:Atxn2l UTSW 7 126,500,203 (GRCm38) missense probably damaging 1.00
R6022:Atxn2l UTSW 7 126,496,435 (GRCm38) critical splice donor site probably null
R6075:Atxn2l UTSW 7 126,492,517 (GRCm38) missense possibly damaging 0.70
R6131:Atxn2l UTSW 7 126,503,165 (GRCm38) unclassified probably benign
R6460:Atxn2l UTSW 7 126,494,248 (GRCm38) small deletion probably benign
R6552:Atxn2l UTSW 7 126,493,821 (GRCm38) missense possibly damaging 0.70
R7167:Atxn2l UTSW 7 126,499,222 (GRCm38) missense possibly damaging 0.76
R7234:Atxn2l UTSW 7 126,493,201 (GRCm38) missense probably damaging 1.00
R7301:Atxn2l UTSW 7 126,494,211 (GRCm38) nonsense probably null
R7432:Atxn2l UTSW 7 126,493,874 (GRCm38) missense possibly damaging 0.46
R7691:Atxn2l UTSW 7 126,492,610 (GRCm38) critical splice acceptor site probably null
R7711:Atxn2l UTSW 7 126,501,269 (GRCm38) missense probably damaging 1.00
R7849:Atxn2l UTSW 7 126,493,173 (GRCm38) missense possibly damaging 0.48
R7870:Atxn2l UTSW 7 126,492,752 (GRCm38) missense probably benign
R8907:Atxn2l UTSW 7 126,500,253 (GRCm38) missense probably damaging 1.00
R8929:Atxn2l UTSW 7 126,493,756 (GRCm38) splice site probably benign
R8949:Atxn2l UTSW 7 126,492,205 (GRCm38) missense probably damaging 0.99
R8982:Atxn2l UTSW 7 126,494,248 (GRCm38) small deletion probably benign
R9021:Atxn2l UTSW 7 126,495,540 (GRCm38) missense probably benign 0.00
R9127:Atxn2l UTSW 7 126,498,221 (GRCm38) missense probably damaging 1.00
R9769:Atxn2l UTSW 7 126,496,520 (GRCm38) missense probably benign 0.00
RF006:Atxn2l UTSW 7 126,495,891 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCTCAACGAGAGGTTCTGAGATCC -3'
(R):5'- GCAGCCACTGTTCACCAATCCTATC -3'

Sequencing Primer
(F):5'- GGTTCTGAGATCCCTTATCAAAGC -3'
(R):5'- AAAGAGCTGGGTCATTCTCC -3'
Posted On 2013-05-09