Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00798:Atxn2'

9156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atxn2

Ensembl Gene

ENSMUSG00000042605

Gene Name

ataxin 2

Synonyms

9630045M23Rik, ATX2, Sca2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

IGL00798

Quality Score

Status

Chromosome

Chromosomal Location

121849672-121954372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121933298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 565 (K565E)

Ref Sequence

ENSEMBL: ENSMUSP00000124070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051950] [ENSMUST00000161064] [ENSMUST00000162327]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051950
AA Change: K874E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000056715
Gene: ENSMUSG00000042605
AA Change: K874E

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000159828

Predicted Effect

probably benign
Transcript: ENSMUST00000160821

SMART Domains

Protein: ENSMUSP00000125647
Gene: ENSMUSG00000042605

Domain	Start	End	E-Value	Type
Pfam:LsmAD	1	47	3.6e-11	PFAM
low complexity region	217	237	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161064
AA Change: K565E

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124070
Gene: ENSMUSG00000042605
AA Change: K565E

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000161872

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162327
AA Change: K270E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123784
Gene: ENSMUSG00000042605
AA Change: K270E

Domain	Start	End	E-Value	Type
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

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,647,969 (GRCm39)	F1154I	probably damaging	Het
Brca2	T	G	5: 150,462,928 (GRCm39)	S897R	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Gabrg1	G	A	5: 70,939,626 (GRCm39)	R164W	probably damaging	Het
Iigp1	T	C	18: 60,524,073 (GRCm39)	M397T	probably benign	Het
Jmy	A	G	13: 93,577,910 (GRCm39)	S753P	probably benign	Het
Myo5b	A	G	18: 74,787,147 (GRCm39)		probably benign	Het
Nr3c1	C	T	18: 39,619,924 (GRCm39)	G121D	probably damaging	Het
Nup98	A	G	7: 101,796,411 (GRCm39)	F875S	probably damaging	Het
Plk2	T	C	13: 110,534,568 (GRCm39)	S354P	probably benign	Het
Prkci	T	C	3: 31,088,648 (GRCm39)	V179A	probably benign	Het
Slc12a1	T	C	2: 125,030,114 (GRCm39)	I562T	probably damaging	Het
Zfp735	T	A	11: 73,602,386 (GRCm39)	N443K	possibly damaging	Het

Other mutations in Atxn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Atxn2	APN	5	121,933,118 (GRCm39)	missense	probably benign	0.00
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
R7257:Atxn2	UTSW	5	121,923,880 (GRCm39)	missense	possibly damaging	0.62
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

Posted On

2012-12-06