Incidental Mutation 'R7257:Atxn2'
ID 564326
Institutional Source Beutler Lab
Gene Symbol Atxn2
Ensembl Gene ENSMUSG00000042605
Gene Name ataxin 2
Synonyms 9630045M23Rik, ATX2, Sca2
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.820) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 121849672-121954372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 121923880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 734 (N734K)
Ref Sequence ENSEMBL: ENSMUSP00000056715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051950] [ENSMUST00000161064] [ENSMUST00000162327] [ENSMUST00000225761]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000051950
AA Change: N734K

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056715
Gene: ENSMUSG00000042605
AA Change: N734K

DomainStartEndE-ValueType
low complexity region 32 42 N/A INTRINSIC
low complexity region 46 69 N/A INTRINSIC
low complexity region 93 116 N/A INTRINSIC
low complexity region 128 144 N/A INTRINSIC
low complexity region 168 219 N/A INTRINSIC
Pfam:SM-ATX 236 307 6.4e-23 PFAM
LsmAD 378 446 8.57e-25 SMART
low complexity region 520 540 N/A INTRINSIC
low complexity region 544 576 N/A INTRINSIC
low complexity region 685 705 N/A INTRINSIC
low complexity region 807 838 N/A INTRINSIC
low complexity region 864 879 N/A INTRINSIC
Pfam:PAM2 880 897 5.7e-9 PFAM
low complexity region 1128 1165 N/A INTRINSIC
low complexity region 1185 1196 N/A INTRINSIC
low complexity region 1245 1261 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000125647
Gene: ENSMUSG00000042605
AA Change: N265K

DomainStartEndE-ValueType
Pfam:LsmAD 1 47 3.6e-11 PFAM
low complexity region 217 237 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161064
AA Change: N425K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124070
Gene: ENSMUSG00000042605
AA Change: N425K

DomainStartEndE-ValueType
LsmAD 69 137 8.57e-25 SMART
low complexity region 211 231 N/A INTRINSIC
low complexity region 235 267 N/A INTRINSIC
low complexity region 376 396 N/A INTRINSIC
low complexity region 498 529 N/A INTRINSIC
low complexity region 555 570 N/A INTRINSIC
Pfam:PAM2 571 588 3.5e-9 PFAM
low complexity region 801 838 N/A INTRINSIC
low complexity region 858 869 N/A INTRINSIC
low complexity region 915 923 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162327
AA Change: N130K

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123784
Gene: ENSMUSG00000042605
AA Change: N130K

DomainStartEndE-ValueType
low complexity region 1 32 N/A INTRINSIC
low complexity region 58 73 N/A INTRINSIC
Pfam:PAM2 74 91 1.3e-9 PFAM
low complexity region 302 339 N/A INTRINSIC
low complexity region 359 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000225761
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Camk2g T C 14: 20,797,907 (GRCm39) S335G probably benign Het
Cbln2 T A 18: 86,734,859 (GRCm39) W211R probably damaging Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Ddx55 T A 5: 124,698,784 (GRCm39) C249S possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Ect2 A G 3: 27,192,684 (GRCm39) S420P probably damaging Het
Efcab5 T A 11: 77,028,605 (GRCm39) E242V probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Ighmbp2 A G 19: 3,316,405 (GRCm39) S562P probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Oca2 G A 7: 55,929,286 (GRCm39) probably benign Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Septin3 G A 15: 82,173,414 (GRCm39) A249T probably damaging Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y probably damaging Het
Other mutations in Atxn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Atxn2 APN 5 121,933,118 (GRCm39) missense probably benign 0.00
IGL00798:Atxn2 APN 5 121,933,298 (GRCm39) missense possibly damaging 0.58
IGL01518:Atxn2 APN 5 121,949,042 (GRCm39) missense probably damaging 1.00
IGL01737:Atxn2 APN 5 121,935,407 (GRCm39) missense probably damaging 0.98
IGL01832:Atxn2 APN 5 121,944,331 (GRCm39) nonsense probably null
IGL02122:Atxn2 APN 5 121,916,093 (GRCm39) missense probably damaging 1.00
IGL02333:Atxn2 APN 5 121,919,450 (GRCm39) missense probably damaging 1.00
IGL02742:Atxn2 APN 5 121,919,399 (GRCm39) missense possibly damaging 0.75
IGL03028:Atxn2 APN 5 121,948,972 (GRCm39) missense probably damaging 1.00
IGL03282:Atxn2 APN 5 121,923,298 (GRCm39) missense probably benign 0.00
R0387:Atxn2 UTSW 5 121,940,206 (GRCm39) missense possibly damaging 0.83
R0653:Atxn2 UTSW 5 121,910,841 (GRCm39) missense probably damaging 0.99
R0849:Atxn2 UTSW 5 121,885,484 (GRCm39) splice site probably null
R1305:Atxn2 UTSW 5 121,887,247 (GRCm39) missense probably damaging 1.00
R1440:Atxn2 UTSW 5 121,941,145 (GRCm39) critical splice donor site probably null
R1471:Atxn2 UTSW 5 121,924,437 (GRCm39) missense probably damaging 1.00
R1521:Atxn2 UTSW 5 121,917,654 (GRCm39) missense probably damaging 1.00
R1528:Atxn2 UTSW 5 121,951,593 (GRCm39) missense probably damaging 1.00
R1528:Atxn2 UTSW 5 121,940,171 (GRCm39) missense probably damaging 0.99
R2083:Atxn2 UTSW 5 121,922,069 (GRCm39) missense probably benign 0.00
R2197:Atxn2 UTSW 5 121,944,280 (GRCm39) splice site probably null
R2217:Atxn2 UTSW 5 121,941,140 (GRCm39) missense probably damaging 1.00
R2218:Atxn2 UTSW 5 121,941,140 (GRCm39) missense probably damaging 1.00
R2420:Atxn2 UTSW 5 121,940,142 (GRCm39) critical splice acceptor site probably null
R2421:Atxn2 UTSW 5 121,940,142 (GRCm39) critical splice acceptor site probably null
R2510:Atxn2 UTSW 5 121,919,456 (GRCm39) missense probably damaging 1.00
R3706:Atxn2 UTSW 5 121,923,931 (GRCm39) critical splice donor site probably null
R4604:Atxn2 UTSW 5 121,919,406 (GRCm39) missense probably damaging 1.00
R4852:Atxn2 UTSW 5 121,952,474 (GRCm39) missense probably damaging 0.97
R4914:Atxn2 UTSW 5 121,887,159 (GRCm39) missense probably damaging 1.00
R4982:Atxn2 UTSW 5 121,952,406 (GRCm39) missense possibly damaging 0.66
R5172:Atxn2 UTSW 5 121,933,098 (GRCm39) splice site probably null
R5213:Atxn2 UTSW 5 121,952,543 (GRCm39) splice site probably null
R5655:Atxn2 UTSW 5 121,885,489 (GRCm39) missense probably damaging 0.97
R5775:Atxn2 UTSW 5 121,951,512 (GRCm39) missense probably damaging 1.00
R5782:Atxn2 UTSW 5 121,935,373 (GRCm39) missense probably damaging 1.00
R6015:Atxn2 UTSW 5 121,949,055 (GRCm39) missense probably damaging 1.00
R6438:Atxn2 UTSW 5 121,917,495 (GRCm39) missense probably damaging 1.00
R6529:Atxn2 UTSW 5 121,949,677 (GRCm39) critical splice donor site probably null
R6659:Atxn2 UTSW 5 121,916,027 (GRCm39) missense probably benign 0.10
R6864:Atxn2 UTSW 5 121,917,557 (GRCm39) missense probably damaging 1.00
R7035:Atxn2 UTSW 5 121,949,530 (GRCm39) nonsense probably null
R7166:Atxn2 UTSW 5 121,934,460 (GRCm39) missense possibly damaging 0.90
R7253:Atxn2 UTSW 5 121,916,084 (GRCm39) missense probably damaging 1.00
R7467:Atxn2 UTSW 5 121,940,330 (GRCm39) critical splice donor site probably null
R7544:Atxn2 UTSW 5 121,919,431 (GRCm39) missense probably damaging 1.00
R7648:Atxn2 UTSW 5 121,934,440 (GRCm39) missense probably damaging 0.99
R7883:Atxn2 UTSW 5 121,940,180 (GRCm39) missense possibly damaging 0.79
R8097:Atxn2 UTSW 5 121,887,286 (GRCm39) missense probably damaging 1.00
R8784:Atxn2 UTSW 5 121,933,091 (GRCm39) missense probably benign 0.00
R8835:Atxn2 UTSW 5 121,940,248 (GRCm39) missense possibly damaging 0.63
R8880:Atxn2 UTSW 5 121,948,973 (GRCm39) missense probably benign 0.24
R8983:Atxn2 UTSW 5 121,916,063 (GRCm39) missense probably damaging 1.00
R9254:Atxn2 UTSW 5 121,885,509 (GRCm39) missense probably damaging 1.00
R9332:Atxn2 UTSW 5 121,923,425 (GRCm39) missense probably damaging 1.00
R9379:Atxn2 UTSW 5 121,885,509 (GRCm39) missense probably damaging 1.00
R9412:Atxn2 UTSW 5 121,940,201 (GRCm39) missense possibly damaging 0.84
R9649:Atxn2 UTSW 5 121,949,055 (GRCm39) missense probably damaging 0.98
R9656:Atxn2 UTSW 5 121,922,061 (GRCm39) missense possibly damaging 0.78
X0028:Atxn2 UTSW 5 121,940,146 (GRCm39) missense probably benign 0.01
Z1176:Atxn2 UTSW 5 121,916,053 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAACCCATTTTCCCCTAAGC -3'
(R):5'- ATGCAAGTATCTGTCTGGCTAAAC -3'

Sequencing Primer
(F):5'- TTTTCCCCTAAGCCAGAAGG -3'
(R):5'- CATGGTGGCTCACAACCATCTG -3'
Posted On 2019-06-26