Mutagenetix > Incidental Mutation

Incidental Mutation 'R0831:Atxn2l'

77546

Institutional Source

Beutler Lab

Gene Symbol

Atxn2l

Ensembl Gene

ENSMUSG00000032637

Gene Name

ataxin 2-like

Synonyms

A2LG, A2RP, A2lp, A2D

MMRRC Submission

039010-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R0831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126090880-126102609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126098332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 187 (S187P)

Ref Sequence

ENSEMBL: ENSMUSP00000132959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000166682] [ENSMUST00000167759] [ENSMUST00000179818] [ENSMUST00000206577]

AlphaFold

Q7TQH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040202
AA Change: S273P

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

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: S273P

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	36	54	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC
Pfam:SM-ATX	119	189	8.5e-21	PFAM
LsmAD	262	331	1.95e-28	SMART
low complexity region	357	382	N/A	INTRINSIC
low complexity region	450	470	N/A	INTRINSIC
Pfam:PAM2	657	672	5.6e-8	PFAM
low complexity region	681	697	N/A	INTRINSIC
low complexity region	764	787	N/A	INTRINSIC
low complexity region	920	947	N/A	INTRINSIC
low complexity region	979	991	N/A	INTRINSIC
low complexity region	997	1008	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166682
AA Change: S153P

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

SMART Domains

Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: S153P

Domain	Start	End	E-Value	Type
Pfam:SM-ATX	1	69	1.6e-21	PFAM
LsmAD	142	211	1.95e-28	SMART
low complexity region	237	262	N/A	INTRINSIC
low complexity region	330	350	N/A	INTRINSIC
Pfam:PAM2	537	553	4.3e-8	PFAM
low complexity region	561	577	N/A	INTRINSIC
low complexity region	644	667	N/A	INTRINSIC
low complexity region	800	827	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167759
AA Change: S187P

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

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: S187P

Domain	Start	End	E-Value	Type
Pfam:SM-ATX	33	103	8.1e-23	PFAM
LsmAD	176	245	1.95e-28	SMART
low complexity region	271	296	N/A	INTRINSIC
low complexity region	364	384	N/A	INTRINSIC
Pfam:PAM2	571	587	4.2e-8	PFAM
low complexity region	595	611	N/A	INTRINSIC
low complexity region	678	701	N/A	INTRINSIC
low complexity region	834	861	N/A	INTRINSIC
low complexity region	893	905	N/A	INTRINSIC
low complexity region	911	922	N/A	INTRINSIC
low complexity region	944	960	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179818
AA Change: S216P

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

SMART Domains

Protein: ENSMUSP00000137108
Gene: ENSMUSG00000032637
AA Change: S216P

Domain	Start	End	E-Value	Type
Pfam:SM-ATX	62	132	4.3e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206577
AA Change: S273P

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

Meta Mutation Damage Score

0.7918

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.0%

Validation Efficiency

95% (82/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	C	T	7: 12,284,523 (GRCm39)		probably benign	Het
3425401B19Rik	T	C	14: 32,384,228 (GRCm39)	N579S	probably benign	Het
Adck1	G	T	12: 88,335,118 (GRCm39)	M1I	probably null	Het
Adgra3	A	T	5: 50,128,144 (GRCm39)	I779N	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Afg3l2	A	C	18: 67,554,297 (GRCm39)	F468L	probably damaging	Het
Alms1	T	A	6: 85,605,502 (GRCm39)	I2384N	probably benign	Het
Ankrd13b	A	T	11: 77,363,585 (GRCm39)	S244R	probably damaging	Het
Aox1	T	A	1: 58,378,842 (GRCm39)	H1030Q	probably benign	Het
Ap1b1	A	G	11: 4,973,092 (GRCm39)		probably benign	Het
B4galt4	G	T	16: 38,588,341 (GRCm39)	E57D	probably benign	Het
Cad	T	C	5: 31,224,944 (GRCm39)	V949A	probably damaging	Het
Cadps2	C	T	6: 23,321,739 (GRCm39)	S1051N	possibly damaging	Het
Ccdc66	C	T	14: 27,219,313 (GRCm39)	V148I	probably benign	Het
Ccser1	C	T	6: 61,400,045 (GRCm39)	P55S	probably damaging	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Cep95	A	G	11: 106,705,530 (GRCm39)	D548G	probably benign	Het
Chil3	A	G	3: 106,057,063 (GRCm39)	Y294H	probably benign	Het
Chmp5	A	G	4: 40,949,500 (GRCm39)	D39G	probably damaging	Het
Chrd	T	A	16: 20,560,059 (GRCm39)	F887I	probably damaging	Het
Col24a1	G	T	3: 145,034,520 (GRCm39)	G580V	probably damaging	Het
Col6a2	A	T	10: 76,439,939 (GRCm39)	N655K	probably damaging	Het
Ctsf	A	T	19: 4,909,868 (GRCm39)	Y416F	possibly damaging	Het
Dennd5a	A	C	7: 109,533,961 (GRCm39)	V77G	probably damaging	Het
Dna2	A	T	10: 62,795,108 (GRCm39)	K460*	probably null	Het
Dnah17	A	T	11: 117,951,097 (GRCm39)	M2842K	probably damaging	Het
Dnajc13	C	A	9: 104,049,811 (GRCm39)	G1765V	probably damaging	Het
Donson	A	C	16: 91,480,651 (GRCm39)	C243W	probably damaging	Het
Dpp8	A	T	9: 64,985,961 (GRCm39)	N817I	possibly damaging	Het
Eef1d	G	A	15: 75,768,655 (GRCm39)		probably benign	Het
Esf1	T	A	2: 140,010,279 (GRCm39)	D19V	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gm9867	C	A	4: 140,049,799 (GRCm39)	A128S	unknown	Het
Igsf23	G	T	7: 19,675,662 (GRCm39)		probably benign	Het
Inhca	T	C	9: 103,146,978 (GRCm39)	H292R	possibly damaging	Het
Kdm7a	C	A	6: 39,143,699 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,453,609 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,537,990 (GRCm39)	N1229D	possibly damaging	Het
Mrps11	C	A	7: 78,441,611 (GRCm39)		probably benign	Het
Mtmr2	T	A	9: 13,707,409 (GRCm39)	D248E	probably damaging	Het
Myrfl	C	A	10: 116,619,114 (GRCm39)	S748I	probably benign	Het
Nop14	T	C	5: 34,807,864 (GRCm39)	E366G	possibly damaging	Het
Or13c3	T	G	4: 52,855,764 (GRCm39)	I250L	possibly damaging	Het
Or2w25	C	T	11: 59,504,480 (GRCm39)	T230I	possibly damaging	Het
Or52z13	A	G	7: 103,247,338 (GRCm39)	I272V	probably benign	Het
Or7e177	T	A	9: 20,211,861 (GRCm39)	C123S	probably benign	Het
Or8g2b	C	T	9: 39,751,579 (GRCm39)	P283L	probably damaging	Het
Phykpl	G	T	11: 51,476,366 (GRCm39)	E29*	probably null	Het
Plppr4	A	G	3: 117,125,295 (GRCm39)		probably null	Het
Prmt2	A	C	10: 76,043,641 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,193,649 (GRCm39)	Y114*	probably null	Het
Prr23a2	C	A	9: 98,738,917 (GRCm39)	H92N	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rdx	C	A	9: 51,977,117 (GRCm39)	A122E	probably damaging	Het
Rspo3	T	G	10: 29,330,253 (GRCm39)	D236A	unknown	Het
Sdk2	A	T	11: 113,723,084 (GRCm39)	D1302E	probably damaging	Het
Sipa1	A	T	19: 5,710,382 (GRCm39)	D209E	probably damaging	Het
Sirpa	T	G	2: 129,469,856 (GRCm39)		probably benign	Het
Ska1	A	C	18: 74,330,570 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,668,331 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,631,172 (GRCm39)	V602A	probably benign	Het
Slco2a1	T	C	9: 102,959,533 (GRCm39)	V543A	probably damaging	Het
Sorcs3	A	T	19: 48,682,433 (GRCm39)	L489F	probably damaging	Het
Sorl1	T	C	9: 41,982,365 (GRCm39)		probably benign	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Spindoc	G	T	19: 7,352,100 (GRCm39)	N82K	probably benign	Het
Stk17b	C	A	1: 53,796,651 (GRCm39)	C372F	probably damaging	Het
Tbck	A	G	3: 132,428,052 (GRCm39)		probably benign	Het
Thoc1	C	T	18: 9,963,267 (GRCm39)	T127I	probably benign	Het
Togaram2	G	T	17: 72,023,439 (GRCm39)	R765L	probably damaging	Het
Tprg1	A	G	16: 25,136,219 (GRCm39)	Y70C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	T	C	17: 31,215,325 (GRCm39)	Y1050H	probably damaging	Het
Vmn1r205	T	A	13: 22,776,586 (GRCm39)	D172V	probably benign	Het
Vmn1r79	A	T	7: 11,910,990 (GRCm39)	N291Y	probably damaging	Het
Vmn2r112	T	A	17: 22,833,980 (GRCm39)	N549K	probably damaging	Het
Vrk3	T	A	7: 44,414,227 (GRCm39)	L241Q	probably damaging	Het
Zc3h7a	A	G	16: 10,969,744 (GRCm39)	S386P	probably damaging	Het

Other mutations in Atxn2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Atxn2l	APN	7	126,097,460 (GRCm39)	missense	possibly damaging	0.94
IGL00507:Atxn2l	APN	7	126,095,756 (GRCm39)	missense	possibly damaging	0.51
IGL00846:Atxn2l	APN	7	126,098,350 (GRCm39)	missense	probably damaging	1.00
IGL01813:Atxn2l	APN	7	126,099,425 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Atxn2l	UTSW	7	126,096,443 (GRCm39)	missense	probably benign	0.11
R0005:Atxn2l	UTSW	7	126,097,446 (GRCm39)	missense	probably damaging	1.00
R0267:Atxn2l	UTSW	7	126,092,379 (GRCm39)	missense	probably damaging	1.00
R0608:Atxn2l	UTSW	7	126,100,588 (GRCm39)	splice site	probably null
R0749:Atxn2l	UTSW	7	126,100,009 (GRCm39)	missense	possibly damaging	0.50
R0881:Atxn2l	UTSW	7	126,095,768 (GRCm39)	missense	probably damaging	1.00
R1022:Atxn2l	UTSW	7	126,096,466 (GRCm39)	missense	probably benign	0.01
R1024:Atxn2l	UTSW	7	126,096,466 (GRCm39)	missense	probably benign	0.01
R1081:Atxn2l	UTSW	7	126,093,384 (GRCm39)	missense	probably damaging	1.00
R1132:Atxn2l	UTSW	7	126,093,420 (GRCm39)	small deletion	probably benign
R1489:Atxn2l	UTSW	7	126,095,639 (GRCm39)	missense	probably damaging	1.00
R1919:Atxn2l	UTSW	7	126,092,340 (GRCm39)	missense	probably damaging	0.99
R2062:Atxn2l	UTSW	7	126,095,038 (GRCm39)	missense	probably damaging	1.00
R2170:Atxn2l	UTSW	7	126,102,411 (GRCm39)	start gained	probably benign
R3719:Atxn2l	UTSW	7	126,097,302 (GRCm39)	missense	probably damaging	1.00
R3861:Atxn2l	UTSW	7	126,101,123 (GRCm39)	critical splice donor site	probably null
R5061:Atxn2l	UTSW	7	126,099,375 (GRCm39)	missense	probably damaging	1.00
R6022:Atxn2l	UTSW	7	126,095,607 (GRCm39)	critical splice donor site	probably null
R6075:Atxn2l	UTSW	7	126,091,689 (GRCm39)	missense	possibly damaging	0.70
R6131:Atxn2l	UTSW	7	126,102,337 (GRCm39)	unclassified	probably benign
R6460:Atxn2l	UTSW	7	126,093,420 (GRCm39)	small deletion	probably benign
R6552:Atxn2l	UTSW	7	126,092,993 (GRCm39)	missense	possibly damaging	0.70
R7167:Atxn2l	UTSW	7	126,098,394 (GRCm39)	missense	possibly damaging	0.76
R7234:Atxn2l	UTSW	7	126,092,373 (GRCm39)	missense	probably damaging	1.00
R7301:Atxn2l	UTSW	7	126,093,383 (GRCm39)	nonsense	probably null
R7432:Atxn2l	UTSW	7	126,093,046 (GRCm39)	missense	possibly damaging	0.46
R7691:Atxn2l	UTSW	7	126,091,782 (GRCm39)	critical splice acceptor site	probably null
R7711:Atxn2l	UTSW	7	126,100,441 (GRCm39)	missense	probably damaging	1.00
R7849:Atxn2l	UTSW	7	126,092,345 (GRCm39)	missense	possibly damaging	0.48
R7870:Atxn2l	UTSW	7	126,091,924 (GRCm39)	missense	probably benign
R8907:Atxn2l	UTSW	7	126,099,425 (GRCm39)	missense	probably damaging	1.00
R8929:Atxn2l	UTSW	7	126,092,928 (GRCm39)	splice site	probably benign
R8949:Atxn2l	UTSW	7	126,091,377 (GRCm39)	missense	probably damaging	0.99
R8982:Atxn2l	UTSW	7	126,093,420 (GRCm39)	small deletion	probably benign
R9021:Atxn2l	UTSW	7	126,094,712 (GRCm39)	missense	probably benign	0.00
R9127:Atxn2l	UTSW	7	126,097,393 (GRCm39)	missense	probably damaging	1.00
R9769:Atxn2l	UTSW	7	126,095,692 (GRCm39)	missense	probably benign	0.00
RF006:Atxn2l	UTSW	7	126,095,063 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCAAACCAGGAGGGAATACTACTTAC -3'
(R):5'- CAGATCGTCCTCAGACTTTCACATACC -3'

Sequencing Primer
(F):5'- AGGAGGGAATACTACTTACAAACC -3'
(R):5'- agccatctctccagccc -3'

Posted On

2013-10-16