Incidental Mutation 'IGL03028:Atxn2'
ID 408268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atxn2
Ensembl Gene ENSMUSG00000042605
Gene Name ataxin 2
Synonyms 9630045M23Rik, ATX2, Sca2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.702) question?
Stock # IGL03028
Quality Score
Status
Chromosome 5
Chromosomal Location 121711337-121816493 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121810909 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 789 (H789Q)
Ref Sequence ENSEMBL: ENSMUSP00000124070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051950] [ENSMUST00000086310] [ENSMUST00000136960] [ENSMUST00000160220] [ENSMUST00000160462] [ENSMUST00000161064] [ENSMUST00000161159] [ENSMUST00000162327]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000051950
AA Change: H1116Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056715
Gene: ENSMUSG00000042605
AA Change: H1116Q

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 probably benign
Transcript: ENSMUST00000086310
SMART Domains Protein: ENSMUSP00000083490
Gene: ENSMUSG00000042594

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Pfam:Phe_ZIP 22 77 2e-22 PFAM
low complexity region 114 128 N/A INTRINSIC
PH 168 281 1.2e-2 SMART
SH2 334 419 3.53e-19 SMART
low complexity region 512 525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136960
SMART Domains Protein: ENSMUSP00000119086
Gene: ENSMUSG00000042594

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Pfam:Phe_ZIP 22 77 2.4e-23 PFAM
low complexity region 114 128 N/A INTRINSIC
PH 168 281 1.2e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159928
Predicted Effect probably benign
Transcript: ENSMUST00000160220
SMART Domains Protein: ENSMUSP00000124059
Gene: ENSMUSG00000042605

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000160462
AA Change: H30Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124092
Gene: ENSMUSG00000042605
AA Change: H30Q

DomainStartEndE-ValueType
low complexity region 42 52 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161064
AA Change: H789Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124070
Gene: ENSMUSG00000042605
AA Change: H789Q

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 probably damaging
Transcript: ENSMUST00000161159
AA Change: H94Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123833
Gene: ENSMUSG00000042605
AA Change: H94Q

DomainStartEndE-ValueType
low complexity region 74 111 N/A INTRINSIC
low complexity region 131 142 N/A INTRINSIC
low complexity region 188 196 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161836
Predicted Effect possibly damaging
Transcript: ENSMUST00000162327
AA Change: H492Q

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123784
Gene: ENSMUSG00000042605
AA Change: H492Q

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 noncoding transcript
Transcript: ENSMUST00000162459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199451
Predicted Effect probably benign
Transcript: ENSMUST00000199864
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,594,762 V86G probably benign Het
Adgra3 A T 5: 50,016,852 W115R probably benign Het
Ahr G A 12: 35,504,710 A470V probably benign Het
AI481877 A C 4: 59,094,274 I150S possibly damaging Het
Aoah A T 13: 20,816,582 Q62L possibly damaging Het
Arhgef12 A T 9: 43,026,228 D100E possibly damaging Het
Asic1 A G 15: 99,672,157 N120D probably benign Het
Atp2b2 A G 6: 113,759,142 L988P probably damaging Het
Clk1 G T 1: 58,421,102 S123* probably null Het
Col10a1 C T 10: 34,395,016 A328V probably benign Het
Col26a1 G T 5: 136,743,118 D415E possibly damaging Het
Ctla2a A G 13: 60,935,459 probably benign Het
Cwf19l2 A G 9: 3,430,622 E318G probably benign Het
Dnajc16 C T 4: 141,767,732 W523* probably null Het
Ehhadh T C 16: 21,762,394 E616G probably damaging Het
F5 A T 1: 164,193,000 K1015* probably null Het
Fam78a A G 2: 32,082,882 W9R possibly damaging Het
Frs2 A T 10: 117,073,933 M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 M200L probably benign Het
Gm44511 T C 6: 128,780,395 S179G probably damaging Het
Gpr25 G A 1: 136,260,812 S21L probably benign Het
Hsdl2 A G 4: 59,594,471 D34G probably damaging Het
Kcnt1 A G 2: 25,909,203 probably null Het
Kl A G 5: 150,991,550 Y914C probably damaging Het
Map3k3 T G 11: 106,110,751 V45G probably damaging Het
Mppe1 A C 18: 67,227,684 C261W probably damaging Het
Nin T C 12: 70,035,270 T1640A probably benign Het
Olfr368 C T 2: 37,331,956 L70F probably damaging Het
Olfr483 T A 7: 108,104,173 M288K probably damaging Het
Olfr570 T A 7: 102,900,829 I154N possibly damaging Het
Olfr616 A G 7: 103,564,589 probably null Het
Olfr844 A T 9: 19,319,368 Y284F probably damaging Het
Oxr1 A G 15: 41,817,163 N166D probably damaging Het
Pank4 T A 4: 154,969,985 probably benign Het
Pgd A G 4: 149,161,627 probably null Het
Pitrm1 C T 13: 6,574,393 H831Y probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rad51 A C 2: 119,116,314 M1L possibly damaging Het
Recql5 G T 11: 115,894,431 S746R possibly damaging Het
Rhbdl3 C T 11: 80,323,461 Q133* probably null Het
Rpp40 A T 13: 35,904,511 L59Q probably damaging Het
Rtca C A 3: 116,493,092 probably benign Het
Rtkn C T 6: 83,147,872 Q108* probably null Het
Sirt6 C T 10: 81,627,541 probably benign Het
Slc9a4 G A 1: 40,610,377 V517M probably benign Het
Smarca2 G T 19: 26,678,312 probably benign Het
Snx33 A T 9: 56,926,451 D111E probably benign Het
Tgfb1 T C 7: 25,704,196 I311T probably damaging Het
Tgfb2 C T 1: 186,630,609 probably null Het
Tmem232 T C 17: 65,256,389 T670A probably benign Het
Tnfsf4 T C 1: 161,395,642 F21L possibly damaging Het
Ubr5 T C 15: 38,047,593 T47A probably benign Het
Unc79 T C 12: 103,173,526 V2515A possibly damaging Het
Utp6 T C 11: 79,953,624 K192E probably damaging Het
Vmn2r102 T C 17: 19,694,066 F631S possibly damaging Het
Zfp516 A C 18: 82,955,913 I79L possibly damaging Het
Other mutations in Atxn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Atxn2 APN 5 121795055 missense probably benign 0.00
IGL00798:Atxn2 APN 5 121795235 missense possibly damaging 0.58
IGL01518:Atxn2 APN 5 121810979 missense probably damaging 1.00
IGL01737:Atxn2 APN 5 121797344 missense probably damaging 0.98
IGL01832:Atxn2 APN 5 121806268 nonsense probably null
IGL02122:Atxn2 APN 5 121778030 missense probably damaging 1.00
IGL02333:Atxn2 APN 5 121781387 missense probably damaging 1.00
IGL02742:Atxn2 APN 5 121781336 missense possibly damaging 0.75
IGL03282:Atxn2 APN 5 121785235 missense probably benign 0.00
R0387:Atxn2 UTSW 5 121802143 missense possibly damaging 0.83
R0653:Atxn2 UTSW 5 121772778 missense probably damaging 0.99
R0849:Atxn2 UTSW 5 121747421 splice site probably null
R1305:Atxn2 UTSW 5 121749184 missense probably damaging 1.00
R1440:Atxn2 UTSW 5 121803082 critical splice donor site probably null
R1471:Atxn2 UTSW 5 121786374 missense probably damaging 1.00
R1521:Atxn2 UTSW 5 121779591 missense probably damaging 1.00
R1528:Atxn2 UTSW 5 121802108 missense probably damaging 0.99
R1528:Atxn2 UTSW 5 121813530 missense probably damaging 1.00
R2083:Atxn2 UTSW 5 121784006 missense probably benign 0.00
R2197:Atxn2 UTSW 5 121806217 splice site probably null
R2217:Atxn2 UTSW 5 121803077 missense probably damaging 1.00
R2218:Atxn2 UTSW 5 121803077 missense probably damaging 1.00
R2420:Atxn2 UTSW 5 121802079 critical splice acceptor site probably null
R2421:Atxn2 UTSW 5 121802079 critical splice acceptor site probably null
R2510:Atxn2 UTSW 5 121781393 missense probably damaging 1.00
R3706:Atxn2 UTSW 5 121785868 critical splice donor site probably null
R4604:Atxn2 UTSW 5 121781343 missense probably damaging 1.00
R4852:Atxn2 UTSW 5 121814411 missense probably damaging 0.97
R4914:Atxn2 UTSW 5 121749096 missense probably damaging 1.00
R4982:Atxn2 UTSW 5 121814343 missense possibly damaging 0.66
R5172:Atxn2 UTSW 5 121795035 splice site probably null
R5213:Atxn2 UTSW 5 121814480 splice site probably null
R5655:Atxn2 UTSW 5 121747426 missense probably damaging 0.97
R5775:Atxn2 UTSW 5 121813449 missense probably damaging 1.00
R5782:Atxn2 UTSW 5 121797310 missense probably damaging 1.00
R6015:Atxn2 UTSW 5 121810992 missense probably damaging 1.00
R6438:Atxn2 UTSW 5 121779432 missense probably damaging 1.00
R6529:Atxn2 UTSW 5 121811614 critical splice donor site probably null
R6659:Atxn2 UTSW 5 121777964 missense probably benign 0.10
R6864:Atxn2 UTSW 5 121779494 missense probably damaging 1.00
R7035:Atxn2 UTSW 5 121811467 nonsense probably null
R7166:Atxn2 UTSW 5 121796397 missense possibly damaging 0.90
R7253:Atxn2 UTSW 5 121778021 missense probably damaging 1.00
R7257:Atxn2 UTSW 5 121785817 missense possibly damaging 0.62
R7467:Atxn2 UTSW 5 121802267 critical splice donor site probably null
R7544:Atxn2 UTSW 5 121781368 missense probably damaging 1.00
R7648:Atxn2 UTSW 5 121796377 missense probably damaging 0.99
R7883:Atxn2 UTSW 5 121802117 missense possibly damaging 0.79
R8097:Atxn2 UTSW 5 121749223 missense probably damaging 1.00
R8784:Atxn2 UTSW 5 121795028 missense probably benign 0.00
R8835:Atxn2 UTSW 5 121802185 missense possibly damaging 0.63
R8880:Atxn2 UTSW 5 121810910 missense probably benign 0.24
R8983:Atxn2 UTSW 5 121778000 missense probably damaging 1.00
R9254:Atxn2 UTSW 5 121747446 missense probably damaging 1.00
R9332:Atxn2 UTSW 5 121785362 missense probably damaging 1.00
R9379:Atxn2 UTSW 5 121747446 missense probably damaging 1.00
R9412:Atxn2 UTSW 5 121802138 missense possibly damaging 0.84
R9649:Atxn2 UTSW 5 121810992 missense probably damaging 0.98
R9656:Atxn2 UTSW 5 121783998 missense possibly damaging 0.78
X0028:Atxn2 UTSW 5 121802083 missense probably benign 0.01
Z1176:Atxn2 UTSW 5 121777990 missense probably damaging 1.00
Posted On 2016-08-02