Mutagenetix > Incidental Mutation

Incidental Mutation 'R9127:Atxn2l'

693327

Institutional Source

Beutler Lab

Gene Symbol

Atxn2l

Ensembl Gene

ENSMUSG00000032637

Gene Name

ataxin 2-like

Synonyms

A2LG, A2RP, A2lp, A2D

MMRRC Submission

068926-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R9127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126090880-126102609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126097393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 304 (S304R)

Ref Sequence

ENSEMBL: ENSMUSP00000035415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000166682] [ENSMUST00000167759] [ENSMUST00000179818] [ENSMUST00000206265] [ENSMUST00000206577]

AlphaFold

Q7TQH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040202
AA Change: S304R

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

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: S304R

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: S184R

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

SMART Domains

Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: S184R

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: S218R

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

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: S218R

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 benign
Transcript: ENSMUST00000179818

SMART Domains

Protein: ENSMUSP00000137108
Gene: ENSMUSG00000032637

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206265

Predicted Effect

probably damaging
Transcript: ENSMUST00000206577
AA Change: S304R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,242,080 (GRCm39)	D1314E	probably benign	Het
Abcb1a	A	T	5: 8,724,707 (GRCm39)	R47W	probably benign	Het
Abcc6	T	C	7: 45,629,184 (GRCm39)	N1354S	probably damaging	Het
Abracl	T	C	10: 17,887,444 (GRCm39)	Y61C	probably damaging	Het
Adamtsl1	A	G	4: 86,208,027 (GRCm39)	T633A	probably benign	Het
Agap3	G	A	5: 24,681,439 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,904 (GRCm39)	M647K	probably damaging	Het
Akap7	G	T	10: 25,155,676 (GRCm39)	S72R	unknown	Het
Arhgef12	A	G	9: 42,885,870 (GRCm39)	L1251S	possibly damaging	Het
Astn2	A	T	4: 66,322,164 (GRCm39)	V145E	unknown	Het
Cd226	A	T	18: 89,287,155 (GRCm39)	I318F	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cfap65	A	T	1: 74,958,510 (GRCm39)		probably benign	Het
Cfap96	T	G	8: 46,415,403 (GRCm39)	D201A	probably benign	Het
Chtf8	A	G	8: 107,613,640 (GRCm39)	V18A	probably benign	Het
Cit	G	T	5: 116,074,896 (GRCm39)	E683*	probably null	Het
Ckmt2	T	C	13: 92,007,337 (GRCm39)	R286G	probably damaging	Het
Clec4a2	T	A	6: 123,116,218 (GRCm39)	W128R	probably damaging	Het
Clec4n	T	G	6: 123,212,447 (GRCm39)	S88A	probably damaging	Het
Cndp2	G	A	18: 84,699,121 (GRCm39)	A48V	probably benign	Het
Csmd1	T	C	8: 16,273,286 (GRCm39)	T849A	probably benign	Het
Cts3	A	T	13: 61,715,235 (GRCm39)	Y199*	probably null	Het
Dag1	A	T	9: 108,085,734 (GRCm39)	L469*	probably null	Het
Dclre1c	T	C	2: 3,439,125 (GRCm39)	V225A		Het
Dedd	A	G	1: 171,166,409 (GRCm39)	D115G	probably damaging	Het
Efcab3	T	A	11: 104,741,407 (GRCm39)	V2166D	probably benign	Het
Eif2ak3	T	A	6: 70,860,704 (GRCm39)	W427R	probably damaging	Het
Fbln2	T	A	6: 91,210,473 (GRCm39)	V139D	probably damaging	Het
Fbn1	A	T	2: 125,223,985 (GRCm39)	M588K	possibly damaging	Het
Gm17019	A	T	5: 15,081,113 (GRCm39)	Y109*	probably null	Het
Gm32742	T	A	9: 51,056,015 (GRCm39)	N1255Y	probably damaging	Het
Gm5431	T	A	11: 48,779,600 (GRCm39)	K441*	probably null	Het
Golga2	A	G	2: 32,196,079 (GRCm39)	D898G		Het
Gramd4	G	A	15: 85,975,525 (GRCm39)	R39H	probably benign	Het
Gucy1a2	A	G	9: 3,634,553 (GRCm39)	N199S	probably damaging	Het
Heyl	G	A	4: 123,139,885 (GRCm39)	R148H	probably damaging	Het
Ifi208	A	T	1: 173,523,400 (GRCm39)	M557L	probably benign	Het
Igf2r	A	G	17: 12,958,238 (GRCm39)	V145A	probably damaging	Het
Ighv1-4	A	T	12: 114,450,879 (GRCm39)	Y76*	probably null	Het
Ikzf4	T	C	10: 128,468,487 (GRCm39)	D664G	unknown	Het
Il1a	T	A	2: 129,146,715 (GRCm39)	Y126F	possibly damaging	Het
Lmf2	C	A	15: 89,239,771 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,808,827 (GRCm39)	S166P	probably damaging	Het
Mgat5	A	C	1: 127,294,197 (GRCm39)	T180P	probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mov10	G	T	3: 104,711,659 (GRCm39)	Y209*	probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Numa1	T	A	7: 101,641,869 (GRCm39)	S106T	possibly damaging	Het
Or1e1d-ps1	A	T	11: 73,819,167 (GRCm39)	E39V	probably damaging	Het
Or4c124	G	A	2: 89,156,474 (GRCm39)	Q17*	probably null	Het
Or5b107	A	G	19: 13,142,396 (GRCm39)	N6S	probably damaging	Het
Or7g27	A	G	9: 19,250,026 (GRCm39)	H90R	probably benign	Het
Pcdhb14	A	G	18: 37,582,091 (GRCm39)	N399S	probably damaging	Het
Plcl2	T	A	17: 50,918,032 (GRCm39)	S944T	probably benign	Het
Pml	A	T	9: 58,127,660 (GRCm39)	I695N	probably benign	Het
Ppard	G	T	17: 28,505,349 (GRCm39)	R12L	unknown	Het
Ppip5k1	C	T	2: 121,158,125 (GRCm39)		probably null	Het
Ppp1r3g	T	C	13: 36,152,621 (GRCm39)	S14P	probably benign	Het
Pramel55	A	G	5: 95,951,623 (GRCm39)	Y470C	probably damaging	Het
Prrc2b	C	A	2: 32,103,764 (GRCm39)	R1081S	probably damaging	Het
Rasgrp2	A	T	19: 6,454,438 (GRCm39)	E160D	possibly damaging	Het
Rb1cc1	G	A	1: 6,333,073 (GRCm39)	V1331I	probably damaging	Het
Rnd3	A	T	2: 51,022,413 (GRCm39)	S210T	probably benign	Het
Scaf11	T	C	15: 96,312,764 (GRCm39)	T1426A	probably benign	Het
Sin3b	C	T	8: 73,460,034 (GRCm39)	T207I	possibly damaging	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc28a3	C	T	13: 58,724,581 (GRCm39)	M224I	probably benign	Het
Slc30a1	T	C	1: 191,639,342 (GRCm39)	I75T	probably damaging	Het
Slc6a21	T	A	7: 44,929,674 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,243 (GRCm39)	L206Q	probably damaging	Het
Spata31d1e	A	G	13: 59,890,828 (GRCm39)	S331P	probably benign	Het
Sptbn1	A	G	11: 30,104,356 (GRCm39)	V116A	probably damaging	Het
Syngap1	G	A	17: 27,181,095 (GRCm39)	D1008N	probably damaging	Het
Syt11	T	C	3: 88,669,643 (GRCm39)	D83G	probably benign	Het
Syt14	G	A	1: 192,584,131 (GRCm39)	T428I	probably damaging	Het
Taf15	T	A	11: 83,395,085 (GRCm39)	Y338*	probably null	Het
Tfap4	A	T	16: 4,365,183 (GRCm39)	M253K	possibly damaging	Het
Tnr	T	C	1: 159,713,680 (GRCm39)	S703P	possibly damaging	Het
Trrap	G	A	5: 144,767,830 (GRCm39)	D2577N	probably benign	Het
Uqcc6	A	T	10: 82,458,588 (GRCm39)	M21K	probably benign	Het
Wdr20	C	T	12: 110,759,597 (GRCm39)	S161L	possibly damaging	Het
Zfp503	C	A	14: 22,037,418 (GRCm39)	V62L	probably benign	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
R0831:Atxn2l	UTSW	7	126,098,332 (GRCm39)	missense	probably damaging	1.00
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
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'- CTACACTCAGTAAGATGGCGAAG -3'
(R):5'- AATGCCACAGGTTTGAACTAGTG -3'

Sequencing Primer
(F):5'- CACTCAGTAAGATGGCGAAGTTTAAC -3'
(R):5'- GCCACAGGTTTGAACTAGTGATTTAG -3'

Posted On

2022-01-20