Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Atxn2'

379800

Institutional Source

Beutler Lab

Gene Symbol

Atxn2

Ensembl Gene

ENSMUSG00000042605

Gene Name

ataxin 2

Synonyms

9630045M23Rik, ATX2, Sca2

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121849672-121954372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121887159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 276 (D276E)

Ref Sequence

ENSEMBL: ENSMUSP00000056715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051950] [ENSMUST00000161064] [ENSMUST00000225761]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051950
AA Change: D276E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056715
Gene: ENSMUSG00000042605
AA Change: D276E

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: ENSMUST00000160813

Predicted Effect

probably benign
Transcript: ENSMUST00000161064

SMART Domains

Protein: ENSMUSP00000124070
Gene: ENSMUSG00000042605

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: ENSMUST00000162611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195919

Predicted Effect

probably damaging
Transcript: ENSMUST00000225761
AA Change: D126E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,870,423 (GRCm39)	V281M	probably damaging	Het
Ap1b1	C	T	11: 4,974,400 (GRCm39)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,623,264 (GRCm39)	L436Q	probably damaging	Het
AU040320	A	T	4: 126,729,469 (GRCm39)	K544*	probably null	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,192,844 (GRCm39)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cabs1	T	C	5: 88,128,296 (GRCm39)	Y316H	probably damaging	Het
Carmil2	A	G	8: 106,420,175 (GRCm39)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,036,083 (GRCm39)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cemip2	G	A	19: 21,786,653 (GRCm39)	V472I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnai3	A	G	3: 145,772,582 (GRCm39)	I488T	probably damaging	Het
Dpp4	A	T	2: 62,178,236 (GRCm39)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 21,990,197 (GRCm39)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,462,820 (GRCm39)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Emc1	C	T	4: 139,102,476 (GRCm39)	R924*	probably null	Het
Etaa1	A	T	11: 17,896,532 (GRCm39)	S528R	probably benign	Het
Exoc2	A	T	13: 31,060,796 (GRCm39)	N569K	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,267,245 (GRCm39)	V329I	probably benign	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,748,760 (GRCm39)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,581,513 (GRCm39)	T189A	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,967,672 (GRCm39)	Y482*	probably null	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gper1	A	G	5: 139,412,623 (GRCm39)	I323V	probably benign	Het
Grm5	C	A	7: 87,779,337 (GRCm39)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,369,503 (GRCm39)	T85A	probably benign	Het
Hgsnat	A	G	8: 26,454,866 (GRCm39)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,787,884 (GRCm39)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,054,750 (GRCm39)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,599,681 (GRCm39)	E471G	probably damaging	Het
Lalba	T	A	15: 98,380,061 (GRCm39)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,557,483 (GRCm39)	L163*	probably null	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mpzl2	T	A	9: 44,955,146 (GRCm39)	D114E	probably benign	Het
Myef2	T	A	2: 124,951,659 (GRCm39)	K259*	probably null	Het
Myh8	C	A	11: 67,183,510 (GRCm39)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,863,367 (GRCm39)		probably null	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or2h2	T	C	17: 37,396,883 (GRCm39)	Y58C	probably damaging	Het
Or2w1b	A	T	13: 21,300,567 (GRCm39)	Q235L	probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Orc1	T	C	4: 108,461,755 (GRCm39)	F584S	probably damaging	Het
Osgin1	C	A	8: 120,169,283 (GRCm39)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,622,644 (GRCm39)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,287,439 (GRCm39)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,446,265 (GRCm39)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,327,395 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,163,425 (GRCm39)	S1082G	probably benign	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,487,248 (GRCm39)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,877,613 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slain2	T	A	5: 73,115,609 (GRCm39)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,018,395 (GRCm39)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Smg8	T	C	11: 86,971,536 (GRCm39)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,196,321 (GRCm39)	I322L	probably benign	Het
Snx13	G	A	12: 35,182,032 (GRCm39)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Srprb	C	A	9: 103,079,147 (GRCm39)	V747L	possibly damaging	Het
Stam	A	G	2: 14,107,227 (GRCm39)	E16G	probably damaging	Het
Taar5	A	T	10: 23,847,468 (GRCm39)	I289F	possibly damaging	Het
Tgif1	C	T	17: 71,152,242 (GRCm39)	R70H	probably damaging	Het
Top2a	A	T	11: 98,893,786 (GRCm39)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,303,283 (GRCm39)	I232F	probably damaging	Het
Ttn	T	C	2: 76,577,175 (GRCm39)	T24573A	probably damaging	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ube2n	T	A	10: 95,377,607 (GRCm39)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,106,357 (GRCm39)	K445M	probably null	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Zfp1007	A	G	5: 109,826,396 (GRCm39)	S59P	probably damaging	Het
Zfp157	T	C	5: 138,454,557 (GRCm39)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,275,567 (GRCm39)	C228*	probably null	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGATCCGCTATAGTAAGATCAGC -3'
(R):5'- GCCAATCACACCAGGGTTAG -3'

Sequencing Primer
(F):5'- CCGCTATAGTAAGATCAGCTTTTAG -3'
(R):5'- ATCACACCAGGGTTAGGGTCAC -3'

Posted On

2016-04-15