Mutagenetix > Incidental Mutation

Incidental Mutation 'R7167:Atxn2l'

557987

Institutional Source

Beutler Lab

Gene Symbol

Atxn2l

Ensembl Gene

ENSMUSG00000032637

Gene Name

ataxin 2-like

Synonyms

A2LG, A2RP, A2lp, A2D

MMRRC Submission

045228-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R7167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126090880-126102609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126098394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 252 (N252S)

Ref Sequence

ENSEMBL: ENSMUSP00000035415 (fasta)

Gene Model

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

AlphaFold

Q7TQH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040202
AA Change: N252S

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: N252S

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

possibly damaging
Transcript: ENSMUST00000166682
AA Change: N132S

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: N132S

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: N166S

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

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: N166S

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

possibly damaging
Transcript: ENSMUST00000179818
AA Change: N195S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137108
Gene: ENSMUSG00000032637
AA Change: N195S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206577
AA Change: N252S

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.0853

Coding Region Coverage

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

Validation Efficiency

94% (65/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,624,930 (GRCm39)	V436A	probably benign	Het
Abcc5	T	C	16: 20,224,251 (GRCm39)	T111A	possibly damaging	Het
Acsbg2	T	A	17: 57,164,000 (GRCm39)	D203V	probably benign	Het
Alpk2	G	T	18: 65,440,049 (GRCm39)	T448K	probably benign	Het
Arhgef2	A	G	3: 88,551,179 (GRCm39)	N780S	possibly damaging	Het
Bmpr1b	A	T	3: 141,568,841 (GRCm39)	L163Q	probably benign	Het
Clca3a2	T	C	3: 144,803,545 (GRCm39)	R100G	probably benign	Het
Col2a1	A	G	15: 97,898,337 (GRCm39)	I79T	unknown	Het
Csmd1	A	G	8: 15,976,524 (GRCm39)	V2898A	probably benign	Het
Cux1	G	A	5: 136,338,895 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,773 (GRCm39)	S2P	probably benign	Het
Daam1	C	A	12: 72,035,678 (GRCm39)	H958N	probably damaging	Het
Dnah7a	C	T	1: 53,542,935 (GRCm39)	V2412I	probably benign	Het
Ergic2	T	C	6: 148,108,133 (GRCm39)	R2G	probably damaging	Het
Fat2	T	C	11: 55,175,827 (GRCm39)	T1629A	possibly damaging	Het
Ftl1	T	A	7: 45,109,202 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,495,406 (GRCm39)	V332A	possibly damaging	Het
Gm28363	T	C	1: 117,655,119 (GRCm39)	S113P	probably damaging	Het
Hfe	A	T	13: 23,892,052 (GRCm39)	V104E	probably damaging	Het
Ifih1	A	T	2: 62,429,240 (GRCm39)	N899K	probably benign	Het
Krt75	A	G	15: 101,476,750 (GRCm39)	S380P	possibly damaging	Het
Meiob	T	G	17: 25,055,419 (GRCm39)	F409V	probably damaging	Het
Mkrn2os	A	T	6: 115,562,474 (GRCm39)	I163N	probably damaging	Het
Nanos1	G	T	19: 60,745,046 (GRCm39)	G115W	probably damaging	Het
Naprt	C	T	15: 75,764,461 (GRCm39)	A276T	probably damaging	Het
Oas1e	G	T	5: 120,933,487 (GRCm39)	T26N	probably benign	Het
Oog2	T	G	4: 143,921,745 (GRCm39)	D218E	probably benign	Het
Optn	T	C	2: 5,047,294 (GRCm39)	N207S	probably benign	Het
Or13a20	T	A	7: 140,232,466 (GRCm39)	C191*	probably null	Het
Or1l8	T	C	2: 36,817,533 (GRCm39)	I198V	probably benign	Het
Or4g16	T	C	2: 111,136,793 (GRCm39)	M81T	probably benign	Het
Or4p18	A	G	2: 88,232,552 (GRCm39)	V242A	possibly damaging	Het
Or6c63-ps1	T	G	10: 128,899,141 (GRCm39)	Q245P	probably damaging	Het
Or6c66b	T	C	10: 129,376,607 (GRCm39)	L67P	possibly damaging	Het
Or8g4	T	C	9: 39,661,865 (GRCm39)	F61S	probably damaging	Het
Oxnad1	G	T	14: 31,822,976 (GRCm39)	E236*	probably null	Het
Pcdha3	G	A	18: 37,080,046 (GRCm39)	A263T	probably damaging	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Pip5k1b	T	A	19: 24,374,433 (GRCm39)	E49D	probably benign	Het
Plau	C	A	14: 20,889,518 (GRCm39)	F194L	possibly damaging	Het
Ppm1n	A	G	7: 19,013,666 (GRCm39)	L95S	probably damaging	Het
Pramel40	G	A	5: 94,464,984 (GRCm39)	A457T	possibly damaging	Het
Radil	G	T	5: 142,471,260 (GRCm39)		probably null	Het
Ralgapa2	C	T	2: 146,190,374 (GRCm39)	M1266I	probably benign	Het
Reln	A	T	5: 22,147,618 (GRCm39)	L2444Q	probably damaging	Het
Rims2	T	C	15: 39,300,473 (GRCm39)	V260A	probably benign	Het
Rnase2b	T	A	14: 51,400,222 (GRCm39)	V101E	probably damaging	Het
Rtp3	T	A	9: 110,815,772 (GRCm39)	T198S	probably benign	Het
Shisal2b	A	G	13: 105,000,166 (GRCm39)	V19A	probably damaging	Het
Smad3	T	A	9: 63,573,435 (GRCm39)	D201V	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spata7	T	G	12: 98,630,555 (GRCm39)	F371C	probably damaging	Het
Stag1	T	G	9: 100,827,942 (GRCm39)	N990K	probably benign	Het
Tbx18	C	T	9: 87,589,883 (GRCm39)	A352T	probably damaging	Het
Thada	C	T	17: 84,538,391 (GRCm39)	R1539Q	probably benign	Het
Thrap3	A	C	4: 126,078,920 (GRCm39)		probably benign	Het
Tnks	G	A	8: 35,316,458 (GRCm39)	T887M	probably damaging	Het
Trap1	A	C	16: 3,870,792 (GRCm39)	V393G	probably damaging	Het
Trpm4	A	G	7: 44,977,143 (GRCm39)		probably null	Het
Trrap	G	T	5: 144,776,424 (GRCm39)	G3007C	probably benign	Het
U2surp	A	T	9: 95,363,726 (GRCm39)	N611K	probably damaging	Het
Usp12	A	G	5: 146,705,745 (GRCm39)		probably null	Het
Vmn1r200	A	G	13: 22,579,487 (GRCm39)	T97A	possibly damaging	Het
Vmn2r110	C	T	17: 20,794,441 (GRCm39)	V743I	probably benign	Het
Vps50	C	T	6: 3,600,256 (GRCm39)	T905M	probably damaging	Het
Wdr48	T	A	9: 119,736,855 (GRCm39)		probably null	Het
Zfp446	C	T	7: 12,712,049 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,181,015 (GRCm39)	S1012P	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
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'- ACTGTTTCATTCAGAGATCTGCC -3'
(R):5'- GAGAGCCATGATAGCACCTG -3'

Sequencing Primer
(F):5'- TGCCTTACTAAATAAACAGTAAGCC -3'
(R):5'- GAGCCATGATAGCACCTGTAATTGC -3'

Posted On

2019-06-26