Mutagenetix > Incidental Mutation

Incidental Mutation 'R9649:Atxn2'

726941

Institutional Source

Beutler Lab

Gene Symbol

Atxn2

Ensembl Gene

ENSMUSG00000042605

Gene Name

ataxin 2

Synonyms

9630045M23Rik, ATX2, Sca2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R9649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121849672-121954372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121949055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1144 (V1144A)

Ref Sequence

ENSEMBL: ENSMUSP00000056715 (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: V1144A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056715
Gene: ENSMUSG00000042605
AA Change: V1144A

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

probably benign
Transcript: ENSMUST00000086310

SMART Domains

Protein: ENSMUSP00000083490
Gene: ENSMUSG00000042594

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000160220

SMART Domains

Protein: ENSMUSP00000124059
Gene: ENSMUSG00000042605

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160462
AA Change: V58A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124092
Gene: ENSMUSG00000042605
AA Change: V58A

Domain	Start	End	E-Value	Type
low complexity region	42	52	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161064
AA Change: V817A

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

SMART Domains

Protein: ENSMUSP00000124070
Gene: ENSMUSG00000042605
AA Change: V817A

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

SMART Domains

Protein: ENSMUSP00000123833
Gene: ENSMUSG00000042605
AA Change: V122A

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000162327
AA Change: V520A

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123784
Gene: ENSMUSG00000042605
AA Change: V520A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199864

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	A	T	2: 173,561,706 (GRCm39)	H5L	unknown	Het
Aatk	A	G	11: 119,901,733 (GRCm39)	S888P	probably damaging	Het
Ahnak	A	T	19: 8,985,786 (GRCm39)	K2357*	probably null	Het
Arl9	T	A	5: 77,155,139 (GRCm39)	L90Q	probably damaging	Het
Atosa	A	G	9: 74,924,349 (GRCm39)	D864G	possibly damaging	Het
Batf3	C	T	1: 190,830,623 (GRCm39)		probably benign	Het
Bltp3b	C	A	10: 89,626,593 (GRCm39)	T429K	probably benign	Het
Brpf3	G	A	17: 29,037,597 (GRCm39)	E822K	probably benign	Het
Cabin1	T	A	10: 75,575,239 (GRCm39)	Q602L	probably damaging	Het
Cadps	T	C	14: 12,597,418 (GRCm38)	E424G	probably damaging	Het
Camta1	A	G	4: 151,216,004 (GRCm39)	L972P	possibly damaging	Het
Ccdc159	A	G	9: 21,840,672 (GRCm39)	N80D	possibly damaging	Het
Cdh1	A	C	8: 107,388,604 (GRCm39)	E553D	possibly damaging	Het
Cdk14	T	A	5: 5,423,477 (GRCm39)	E35V	probably benign	Het
Cfap70	A	G	14: 20,450,546 (GRCm39)	L995P	probably damaging	Het
Col18a1	T	A	10: 76,916,673 (GRCm39)	E334V	unknown	Het
Colec12	T	A	18: 9,877,000 (GRCm39)	I741K	unknown	Het
Crot	A	G	5: 9,024,170 (GRCm39)	V342A	probably benign	Het
Ctnnal1	A	G	4: 56,865,036 (GRCm39)	S27P	possibly damaging	Het
Cyp2j9	A	G	4: 96,460,193 (GRCm39)	S437P	probably damaging	Het
Dennd4c	A	T	4: 86,743,160 (GRCm39)	T1001S	probably benign	Het
Dffa	G	A	4: 149,202,276 (GRCm39)	V227I	probably benign	Het
Dnaaf5	T	A	5: 139,159,909 (GRCm39)	H602Q	probably benign	Het
Efcab7	G	T	4: 99,761,902 (GRCm39)	K397N	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Fadd	G	A	7: 144,134,384 (GRCm39)	T167I	probably benign	Het
Fam184b	T	C	5: 45,796,484 (GRCm39)	D33G	probably damaging	Het
Fam237b	C	T	5: 5,625,549 (GRCm39)	Q82*	probably null	Het
Fam83h	G	A	15: 75,877,976 (GRCm39)	R141W	probably damaging	Het
Fanci	G	A	7: 79,076,954 (GRCm39)	R564Q	probably damaging	Het
Fat3	A	T	9: 15,908,054 (GRCm39)	D2649E	possibly damaging	Het
Fcrl1	A	G	3: 87,291,918 (GRCm39)	T46A	possibly damaging	Het
Fig4	C	T	10: 41,143,763 (GRCm39)	G232D	probably benign	Het
Frem3	A	T	8: 81,341,145 (GRCm39)	H1146L	probably damaging	Het
Fyttd1	T	A	16: 32,715,472 (GRCm39)	F133L	probably benign	Het
Gata2	A	G	6: 88,179,505 (GRCm39)	N326D	probably damaging	Het
Gm7298	A	T	6: 121,764,491 (GRCm39)	T1457S	probably damaging	Het
Hdac1-ps	A	T	17: 78,799,075 (GRCm39)	Y22F	probably benign	Het
Heatr5b	C	T	17: 79,141,524 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,066,329 (GRCm39)	D33V	possibly damaging	Het
Hmcn2	G	A	2: 31,292,450 (GRCm39)	A2447T	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,331 (GRCm39)	F128S	probably benign	Het
Hs3st6	G	T	17: 24,972,226 (GRCm39)	R56L	possibly damaging	Het
Hsd17b3	C	T	13: 64,212,171 (GRCm39)	M168I	probably damaging	Het
Ighv1-34	G	T	12: 114,814,885 (GRCm39)	D92E	possibly damaging	Het
Itgb4	A	T	11: 115,885,171 (GRCm39)	I1018F	possibly damaging	Het
Itih3	T	C	14: 30,637,605 (GRCm39)	D518G	possibly damaging	Het
Kcnma1	C	T	14: 23,501,666 (GRCm39)		probably null	Het
Klhl11	A	T	11: 100,363,506 (GRCm39)	S17T	probably benign	Het
Lilra6	T	C	7: 3,917,521 (GRCm39)	E158G	possibly damaging	Het
Loxl1	A	G	9: 58,220,037 (GRCm39)	W45R	probably damaging	Het
Lratd1	T	C	12: 14,200,190 (GRCm39)	N179S	probably benign	Het
Lrfn1	G	T	7: 28,166,255 (GRCm39)	V550F	probably damaging	Het
Lrp1	T	C	10: 127,409,368 (GRCm39)	K1584E	probably benign	Het
Lrp4	C	G	2: 91,338,914 (GRCm39)	P1782A	possibly damaging	Het
Map3k1	A	G	13: 111,885,478 (GRCm39)	S1480P	probably damaging	Het
Mark4	G	T	7: 19,160,015 (GRCm39)	N748K	probably benign	Het
Mrpl38	G	A	11: 116,025,900 (GRCm39)	T142M	probably damaging	Het
Mrpl41	T	C	2: 24,864,481 (GRCm39)	T64A	probably benign	Het
Mrps2	G	A	2: 28,359,764 (GRCm39)	R207K	possibly damaging	Het
Myo5a	A	T	9: 75,099,726 (GRCm39)	E96D		Het
Nbas	A	T	12: 13,633,417 (GRCm39)	E2274V	probably damaging	Het
Or4x13	T	C	2: 90,231,338 (GRCm39)	F111S	probably damaging	Het
Or51a8	T	C	7: 102,549,652 (GRCm39)	I26T	probably benign	Het
Or51ac3	T	C	7: 103,213,850 (GRCm39)	D212G	probably damaging	Het
Or5m10b	T	C	2: 85,699,278 (GRCm39)	L114P	possibly damaging	Het
Or5m10b	T	A	2: 85,699,819 (GRCm39)	N294K	probably damaging	Het
Or6c35	T	A	10: 129,169,368 (GRCm39)	I206N	possibly damaging	Het
Pcdhga12	T	A	18: 37,900,288 (GRCm39)	D373E	probably damaging	Het
Pgd	A	C	4: 149,235,596 (GRCm39)	F395V	probably damaging	Het
Pi16	A	G	17: 29,538,363 (GRCm39)	M59V	possibly damaging	Het
Pik3r5	A	T	11: 68,381,720 (GRCm39)	T255S	probably benign	Het
Plch2	A	T	4: 155,068,516 (GRCm39)	V1370E	probably benign	Het
Plec	A	G	15: 76,067,153 (GRCm39)	I1309T	unknown	Het
Ppp2r3d	A	T	9: 124,440,831 (GRCm38)	S22R		Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Ptk2b	C	A	14: 66,413,154 (GRCm39)	E342*	probably null	Het
Ptpn23	T	C	9: 110,215,226 (GRCm39)		probably null	Het
Rfx8	A	C	1: 39,722,850 (GRCm39)	S256A	probably damaging	Het
Rnf115	C	T	3: 96,665,337 (GRCm39)	T69I	probably damaging	Het
Rnf213	A	G	11: 119,370,457 (GRCm39)	Y4753C		Het
S100a10	A	C	3: 93,471,590 (GRCm39)	D58A	possibly damaging	Het
Serpina12	T	C	12: 104,004,317 (GRCm39)	K105R	probably benign	Het
Slc20a2	G	A	8: 23,028,900 (GRCm39)	G124S	probably damaging	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,526,635 (GRCm39)	T964N	probably benign	Het
Stxbp5	T	A	10: 9,774,938 (GRCm39)	I72F	probably damaging	Het
Sumf2	T	A	5: 129,891,482 (GRCm39)	M282K	possibly damaging	Het
Tle7	T	C	8: 110,837,580 (GRCm39)	F375L	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem185b	G	T	1: 119,454,613 (GRCm39)	V125L	probably benign	Het
Tmtc1	A	G	6: 148,144,714 (GRCm39)	M887T	probably damaging	Het
Tnfaip8	C	T	18: 50,223,512 (GRCm39)	Q83*	probably null	Het
Tnks	A	G	8: 35,306,089 (GRCm39)	V1162A	probably damaging	Het
Tomm70a	T	A	16: 56,961,072 (GRCm39)	Y342N	possibly damaging	Het
Tpo	T	A	12: 30,125,875 (GRCm39)	D828V	probably damaging	Het
Ugt8a	A	T	3: 125,708,338 (GRCm39)	N257K	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vim	T	A	2: 13,579,703 (GRCm39)	M154K	probably damaging	Het
Virma	G	T	4: 11,486,045 (GRCm39)	M1I	probably null	Het
Zfp715	A	T	7: 42,950,653 (GRCm39)	M100K	probably benign	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zmynd8	A	T	2: 165,680,772 (GRCm39)	D236E	probably 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
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
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
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'- GCAGTGGTCGTCAGAATTGTAC -3'
(R):5'- CATTAGCACATGGGACTGAGG -3'

Sequencing Primer
(F):5'- GTGGTCGTCAGAATTGTACACATTCC -3'
(R):5'- CAGCATTGCGGCTTGCC -3'

Posted On

2022-10-06