Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:Atxn2'

164879

Institutional Source

Beutler Lab

Gene Symbol

Atxn2

Ensembl Gene

ENSMUSG00000042605

Gene Name

ataxin 2

Synonyms

9630045M23Rik, ATX2, Sca2

MMRRC Submission

039524-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R1471 (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 121924437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 455 (D455E)

Ref Sequence

ENSEMBL: ENSMUSP00000124070 (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: D764E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056715
Gene: ENSMUSG00000042605
AA Change: D764E

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

unknown
Transcript: ENSMUST00000160821
AA Change: D295E

SMART Domains

Protein: ENSMUSP00000125647
Gene: ENSMUSG00000042605
AA Change: D295E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161064
AA Change: D455E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124070
Gene: ENSMUSG00000042605
AA Change: D455E

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

probably damaging
Transcript: ENSMUST00000162327
AA Change: D160E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123784
Gene: ENSMUSG00000042605
AA Change: D160E

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

noncoding transcript
Transcript: ENSMUST00000200499

Predicted Effect

probably benign
Transcript: ENSMUST00000225761

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 94.4%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	C	A	13: 61,001,336 (GRCm39)	K130N	probably damaging	Het
Adam6a	T	A	12: 113,508,013 (GRCm39)	S129T	probably damaging	Het
Adamts10	T	A	17: 33,772,112 (GRCm39)	F1087I	probably damaging	Het
Afp	T	A	5: 90,651,541 (GRCm39)	N385K	possibly damaging	Het
Ahnak	T	G	19: 8,990,296 (GRCm39)		probably benign	Het
Akap6	A	G	12: 53,188,279 (GRCm39)	T1898A	probably benign	Het
Antxr2	C	A	5: 98,123,199 (GRCm39)	V283F	possibly damaging	Het
Asgr1	T	C	11: 69,946,919 (GRCm39)	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,649,411 (GRCm39)	K467E	probably damaging	Het
Atp5f1a	C	A	18: 77,868,969 (GRCm39)	Q398K	probably damaging	Het
B4galt6	C	T	18: 20,878,410 (GRCm39)	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,747,535 (GRCm39)	E165K	probably benign	Het
Cabin1	A	G	10: 75,530,626 (GRCm39)	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386 (GRCm39)	R147*	probably null	Het
Ccdc88b	A	G	19: 6,831,391 (GRCm39)	L517P	probably benign	Het
Cd109	G	A	9: 78,561,869 (GRCm39)	V220I	probably damaging	Het
Cd2ap	T	C	17: 43,131,488 (GRCm39)	K369R	probably benign	Het
Cd300c	A	G	11: 114,850,614 (GRCm39)	V63A	probably benign	Het
Cnot10	A	G	9: 114,420,619 (GRCm39)	V741A	probably benign	Het
Col18a1	G	T	10: 76,932,040 (GRCm39)	Q350K	unknown	Het
Crnkl1	T	C	2: 145,774,236 (GRCm39)	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,298,291 (GRCm39)	K227E	probably benign	Het
Cts6	G	A	13: 61,344,194 (GRCm39)	T286I	probably benign	Het
Cul1	T	C	6: 47,491,820 (GRCm39)	V392A	probably damaging	Het
Dcaf7	T	A	11: 105,937,573 (GRCm39)	F65L	probably benign	Het
Dgke	A	C	11: 88,946,320 (GRCm39)	V160G	possibly damaging	Het
Dock8	C	A	19: 25,178,400 (GRCm39)	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,706,140 (GRCm39)	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Exosc1	A	T	19: 41,913,157 (GRCm39)	S117R	probably damaging	Het
Fga	T	C	3: 82,935,925 (GRCm39)	S51P	probably benign	Het
Fmn1	T	C	2: 113,523,439 (GRCm39)	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,350,837 (GRCm39)	L713F	probably damaging	Het
Galnt4	A	G	10: 98,944,536 (GRCm39)	E87G	probably benign	Het
Gamt	T	C	10: 80,096,692 (GRCm39)	D15G	probably benign	Het
Gm15557	C	A	2: 155,784,174 (GRCm39)	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,281,625 (GRCm39)	I1211V	probably benign	Het
Greb1	A	T	12: 16,761,775 (GRCm39)	M535K	probably damaging	Het
Grm8	C	A	6: 27,363,308 (GRCm39)	A736S	possibly damaging	Het
Hspa14	T	C	2: 3,492,645 (GRCm39)	I373M	probably benign	Het
Ifi207	T	A	1: 173,557,629 (GRCm39)	T370S	unknown	Het
Igf1r	A	G	7: 67,653,585 (GRCm39)	N41S	probably damaging	Het
Ikzf5	A	T	7: 130,993,496 (GRCm39)	V224D	probably damaging	Het
Il10	C	A	1: 130,949,110 (GRCm39)	Y90*	probably null	Het
Itga4	A	G	2: 79,117,376 (GRCm39)	D394G	probably benign	Het
Kif21a	A	T	15: 90,840,622 (GRCm39)	S1165T	probably benign	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Loxl2	A	G	14: 69,930,546 (GRCm39)	N770S	probably benign	Het
Man2b1	A	G	8: 85,813,474 (GRCm39)	D222G	probably damaging	Het
Mcub	T	A	3: 129,709,464 (GRCm39)	Y283F	probably damaging	Het
Meis3	T	A	7: 15,911,496 (GRCm39)	Y64*	probably null	Het
Mfsd6	T	A	1: 52,748,716 (GRCm39)	I50F	probably benign	Het
Micu2	T	C	14: 58,182,854 (GRCm39)	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,686,143 (GRCm39)	E921G	probably damaging	Het
Muc5b	A	T	7: 141,396,971 (GRCm39)	N215Y	unknown	Het
Muc6	A	G	7: 141,234,176 (GRCm39)	F772L	possibly damaging	Het
Myt1	A	G	2: 181,438,904 (GRCm39)	D142G	probably benign	Het
Nol6	C	T	4: 41,120,281 (GRCm39)	V479I	probably benign	Het
Nsun7	A	G	5: 66,441,572 (GRCm39)	K414E	probably benign	Het
Nup210l	A	C	3: 90,077,869 (GRCm39)	I914L	probably benign	Het
Obox3	G	A	7: 15,360,875 (GRCm39)	P88L	probably benign	Het
Or10ag57	A	G	2: 87,218,862 (GRCm39)	Y271C	probably damaging	Het
Or4f4b	T	C	2: 111,314,351 (GRCm39)	L192P	probably damaging	Het
Or8h8	C	T	2: 86,752,922 (GRCm39)		probably null	Het
Or8w1	T	C	2: 87,466,014 (GRCm39)	T26A	probably benign	Het
Pclo	T	C	5: 14,730,441 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,545,688 (GRCm39)	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,128,473 (GRCm39)	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,701,334 (GRCm39)	Q1534L	probably benign	Het
Pramel28	T	C	4: 143,691,523 (GRCm39)	N400S	probably benign	Het
Rell1	T	A	5: 64,093,428 (GRCm39)	D109V	probably damaging	Het
Rplp0	C	T	5: 115,701,403 (GRCm39)	T285I	probably damaging	Het
Sanbr	A	T	11: 23,565,222 (GRCm39)	M255K	probably damaging	Het
Sema3g	C	T	14: 30,950,002 (GRCm39)	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,574,153 (GRCm39)	Y536H	probably damaging	Het
Slc26a5	T	A	5: 22,021,962 (GRCm39)	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,022,362 (GRCm39)	S566C	probably damaging	Het
Spink7	C	T	18: 62,729,275 (GRCm39)	E21K	possibly damaging	Het
Src	C	T	2: 157,299,107 (GRCm39)	Q35*	probably null	Het
Srrm2	T	A	17: 24,039,770 (GRCm39)	V2234E	probably damaging	Het
Stk36	A	T	1: 74,650,314 (GRCm39)	Q282L	probably benign	Het
Tas2r118	T	G	6: 23,969,170 (GRCm39)	E297A	probably damaging	Het
Terf1	A	G	1: 15,913,194 (GRCm39)	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,247,498 (GRCm39)	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,808,355 (GRCm39)	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,174,107 (GRCm39)	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,771,707 (GRCm39)	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,239,930 (GRCm39)	D152N	probably damaging	Het
Unk	T	C	11: 115,940,235 (GRCm39)	I196T	probably benign	Het
Uroc1	T	G	6: 90,321,153 (GRCm39)	V243G	probably damaging	Het
Usp34	C	A	11: 23,438,862 (GRCm39)	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,697,447 (GRCm39)	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,380,882 (GRCm39)	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp362	T	C	4: 128,680,993 (GRCm39)	T111A	probably benign	Het
Zfp598	T	C	17: 24,899,046 (GRCm39)	V615A	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGACAGATACTTGCATTGCTAGTCTT -3'
(R):5'- AGTCTTGTTacacacacacacacacat -3'

Sequencing Primer
(F):5'- TCCCCTCAGCCCCAGTG -3'
(R):5'- cacacacacatacacacacac -3'

Posted On

2014-03-28