Mutagenetix > Incidental Mutation

Incidental Mutation 'R7432:Atxn2l'

576554

Institutional Source

Beutler Lab

Gene Symbol

Atxn2l

Ensembl Gene

ENSMUSG00000032637

Gene Name

ataxin 2-like

Synonyms

A2LG, A2RP, A2lp, A2D

MMRRC Submission

045510-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R7432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126090880-126102609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126093046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 821 (M821K)

Ref Sequence

ENSEMBL: ENSMUSP00000035415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000098048] [ENSMUST00000106392] [ENSMUST00000166682] [ENSMUST00000167759] [ENSMUST00000206055] [ENSMUST00000206265] [ENSMUST00000206572] [ENSMUST00000206577]

AlphaFold

Q7TQH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040202
AA Change: M821K

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: M821K

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 benign
Transcript: ENSMUST00000098048

SMART Domains

Protein: ENSMUSP00000095656
Gene: ENSMUSG00000073838

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	55	249	2e-55	PFAM
Pfam:GTP_EFTU_D2	272	341	1.3e-15	PFAM
Pfam:GTP_EFTU_D3	345	440	1.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106392

SMART Domains

Protein: ENSMUSP00000102000
Gene: ENSMUSG00000073838

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	55	249	2.7e-57	PFAM
Pfam:GTP_EFTU_D2	272	341	2.1e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166682
AA Change: M701K

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: M701K

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

possibly damaging
Transcript: ENSMUST00000167759
AA Change: M735K

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: M735K

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: ENSMUST00000206055

Predicted Effect

probably benign
Transcript: ENSMUST00000206265

Predicted Effect

probably benign
Transcript: ENSMUST00000206572

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206577
AA Change: M815K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,468,839 (GRCm39)	I31V	probably benign	Het
Adamts17	A	G	7: 66,701,665 (GRCm39)	K40E		Het
Akr1c14	G	A	13: 4,138,952 (GRCm39)	D312N	probably benign	Het
Alg6	T	C	4: 99,641,295 (GRCm39)	V398A	probably benign	Het
Ankmy1	A	T	1: 92,823,801 (GRCm39)	M155K	probably benign	Het
Arid5b	C	A	10: 67,954,096 (GRCm39)	R396L	probably damaging	Het
Armt1	C	A	10: 4,382,706 (GRCm39)	D12E	probably benign	Het
Arrb2	T	A	11: 70,328,796 (GRCm39)	N217K	probably benign	Het
Atg2b	A	T	12: 105,627,463 (GRCm39)	L508Q	probably damaging	Het
Atg2b	A	T	12: 105,630,957 (GRCm39)	S323T	probably benign	Het
Atp1a3	G	A	7: 24,705,300 (GRCm39)		probably benign	Het
Atp6v0e	T	C	17: 26,901,672 (GRCm39)	V42A	probably benign	Het
Atp9b	A	G	18: 80,809,056 (GRCm39)	V621A		Het
Atrnl1	A	C	19: 57,743,956 (GRCm39)	D1186A	probably damaging	Het
Blnk	G	A	19: 40,948,301 (GRCm39)	R123*	probably null	Het
Bud13	T	A	9: 46,198,372 (GRCm39)	S98T	probably benign	Het
Ccdc183	T	C	2: 25,499,469 (GRCm39)	M455V	probably benign	Het
Cd109	A	G	9: 78,622,225 (GRCm39)	Y1405C	possibly damaging	Het
Cdan1	A	T	2: 120,553,236 (GRCm39)	L989Q	probably damaging	Het
Clec16a	T	C	16: 10,506,419 (GRCm39)	I713T	possibly damaging	Het
Clta	T	A	4: 44,032,419 (GRCm39)	F168L	possibly damaging	Het
Cnnm1	A	T	19: 43,456,710 (GRCm39)	H583L	probably benign	Het
Cyp4f18	A	G	8: 72,749,906 (GRCm39)	Y248H	probably benign	Het
Dsg4	G	T	18: 20,579,323 (GRCm39)	G20*	probably null	Het
Dusp12	T	A	1: 170,707,345 (GRCm39)	K248*	probably null	Het
Eeig2	C	T	3: 108,910,723 (GRCm39)	A51T	probably damaging	Het
Elp1	C	T	4: 56,776,925 (GRCm39)	G624D	probably damaging	Het
Fhod3	A	G	18: 25,134,966 (GRCm39)	D359G	possibly damaging	Het
Frmpd2	C	A	14: 33,229,510 (GRCm39)	F365L	probably damaging	Het
Gab1	A	G	8: 81,515,298 (GRCm39)	I340T	probably benign	Het
Gabpa	C	T	16: 84,654,408 (GRCm39)	Q362*	probably null	Het
Gcnt2	A	T	13: 41,040,688 (GRCm39)		probably benign	Het
Gm12728	T	A	4: 105,651,486 (GRCm39)	L32Q	probably damaging	Het
Gpatch4	A	G	3: 87,959,003 (GRCm39)	N35D	probably damaging	Het
Grid2	G	T	6: 64,252,854 (GRCm39)	V441L	possibly damaging	Het
H2-M2	A	G	17: 37,792,361 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,829 (GRCm39)	F180L	probably benign	Het
Il17re	T	C	6: 113,439,332 (GRCm39)	F81L	probably benign	Het
Il3ra	T	C	14: 14,350,691 (GRCm38)	V235A	possibly damaging	Het
Krtap6-2	C	T	16: 89,216,761 (GRCm39)	G69S	unknown	Het
Lmln	T	C	16: 32,909,738 (GRCm39)	L373P	probably damaging	Het
Lmo7	C	A	14: 102,139,551 (GRCm39)	Q945K	probably benign	Het
Loxhd1	G	T	18: 77,383,547 (GRCm39)	V149L	possibly damaging	Het
Lrrc73	T	C	17: 46,566,709 (GRCm39)		probably null	Het
Mapkapk5	G	A	5: 121,675,234 (GRCm39)	H112Y	possibly damaging	Het
Maz	A	G	7: 126,622,220 (GRCm39)	V467A	probably benign	Het
Med13l	T	G	5: 118,890,003 (GRCm39)	V1884G	probably damaging	Het
Nlrp12	A	C	7: 3,271,213 (GRCm39)	N1033K	probably benign	Het
Nos3	T	A	5: 24,572,613 (GRCm39)	V184E	probably damaging	Het
Npr2	T	C	4: 43,647,155 (GRCm39)	V737A	probably damaging	Het
Nsd1	A	G	13: 55,361,187 (GRCm39)	T52A	probably benign	Het
Obscn	C	T	11: 58,919,733 (GRCm39)	R108Q		Het
Or4k50-ps1	A	G	2: 111,522,401 (GRCm39)	*179W	probably null	Het
Or4x11	A	T	2: 89,867,528 (GRCm39)	K88N	probably damaging	Het
Or5t5	G	T	2: 86,616,565 (GRCm39)	G164*	probably null	Het
Or5w22	T	C	2: 87,362,784 (GRCm39)	S136P	probably damaging	Het
Or6c70	T	C	10: 129,709,719 (GRCm39)	I302M	probably benign	Het
Or9a4	C	A	6: 40,549,240 (GRCm39)	R307S	probably benign	Het
Ovol2	A	G	2: 144,159,792 (GRCm39)	V116A	probably benign	Het
Pcdha5	C	A	18: 37,095,379 (GRCm39)	S629R	probably benign	Het
Pde4dip	T	A	3: 97,602,408 (GRCm39)	M2274L	probably benign	Het
Pdpk1	T	C	17: 24,320,643 (GRCm39)	T185A	probably benign	Het
Pip5k1a	T	G	3: 94,981,431 (GRCm39)	T67P	probably benign	Het
Plat	G	T	8: 23,263,667 (GRCm39)	V189F	probably damaging	Het
Ppm1a	C	T	12: 72,830,916 (GRCm39)	S147L	probably damaging	Het
Prim1	T	A	10: 127,851,885 (GRCm39)	D52E	probably damaging	Het
Prkab1	C	G	5: 116,162,221 (GRCm39)	D30H	possibly damaging	Het
Psma6	A	T	12: 55,445,613 (GRCm39)		probably benign	Het
Psmd2	T	A	16: 20,473,675 (GRCm39)	M196K	probably damaging	Het
Ralgapa2	G	T	2: 146,276,776 (GRCm39)	T488K	probably benign	Het
Rapgefl1	A	G	11: 98,741,940 (GRCm39)	K635E	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rgs11	G	A	17: 26,426,734 (GRCm39)	V289M	probably damaging	Het
Ro60	T	C	1: 143,641,548 (GRCm39)	I304M	probably benign	Het
Scmh1	T	C	4: 120,386,353 (GRCm39)	L631P	probably damaging	Het
Sema3e	T	G	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Sh3rf2	T	C	18: 42,187,091 (GRCm39)	V70A	probably damaging	Het
Slc12a1	G	T	2: 125,047,960 (GRCm39)	V801L	probably benign	Het
Slc25a51	C	G	4: 45,399,765 (GRCm39)	A142P	possibly damaging	Het
Slc41a1	C	T	1: 131,758,694 (GRCm39)	T112I	probably damaging	Het
Slc44a2	T	C	9: 21,254,511 (GRCm39)	M264T	probably benign	Het
Snapc1	T	A	12: 74,015,068 (GRCm39)	M134K	probably benign	Het
Snrk	T	C	9: 121,986,276 (GRCm39)	F215S	probably damaging	Het
Stab2	T	C	10: 86,721,547 (GRCm39)	E1526G	probably damaging	Het
Tbc1d10a	C	A	11: 4,163,016 (GRCm39)	Y260*	probably null	Het
Tdrd5	A	T	1: 156,130,002 (GRCm39)	L56Q	probably damaging	Het
Tenm2	T	C	11: 36,755,768 (GRCm39)	T77A	probably benign	Het
Tmprss11g	T	G	5: 86,644,366 (GRCm39)	R159S	possibly damaging	Het
Traj38	T	A	14: 54,418,034 (GRCm39)	N1K		Het
Ttn	A	G	2: 76,596,631 (GRCm39)	I20094T	possibly damaging	Het
Ubr4	T	C	4: 139,115,693 (GRCm39)	L64P	probably damaging	Het
Utp20	C	T	10: 88,634,260 (GRCm39)	R812Q	probably benign	Het
Vmn2r57	C	A	7: 41,076,148 (GRCm39)	V455L	probably benign	Het
Wdcp	T	C	12: 4,900,246 (GRCm39)	V34A	probably damaging	Het
Zfp27	C	T	7: 29,594,784 (GRCm39)	V394I	probably benign	Het
Zfp512b	T	C	2: 181,231,649 (GRCm39)	H177R	probably benign	Het
Zfp648	T	A	1: 154,080,783 (GRCm39)	M314K	possibly damaging	Het
Zfp811	T	C	17: 33,017,733 (GRCm39)	I102M	possibly damaging	Het
Zkscan6	A	G	11: 65,705,189 (GRCm39)		probably null	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
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'- TTGGTGAACAGTGGCTGCAG -3'
(R):5'- GTCCACTTGAATTCCTGTAACAG -3'

Sequencing Primer
(F):5'- GAGACCGAGTGCTGAGC -3'
(R):5'- ACAGGACATTGAACCTTTGCTC -3'

Posted On

2019-10-07