Mutagenetix > Incidental Mutations

Incidental Mutation 'R0267:Atxn2l'

35001

Institutional Source

Beutler Lab

Gene Symbol

Atxn2l

Ensembl Gene

ENSMUSG00000032637

Gene Name

ataxin 2-like

Synonyms

A2lp, A2D, A2RP, A2LG

MMRRC Submission

038493-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R0267 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

126491708-126503437 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126493207 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 950 (Q950P)

Ref Sequence

ENSEMBL: ENSMUSP00000146023 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040202
AA Change: Q956P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: Q956P

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

probably damaging
Transcript: ENSMUST00000166682
AA Change: Q836P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: Q836P

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: Q870P

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

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: Q870P

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

noncoding transcript
Transcript: ENSMUST00000205346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205478

Predicted Effect

probably benign
Transcript: ENSMUST00000206055

Predicted Effect

probably damaging
Transcript: ENSMUST00000206265
AA Change: Q57P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000206572

Predicted Effect

probably damaging
Transcript: ENSMUST00000206577
AA Change: Q950P

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

Meta Mutation Damage Score

0.1068

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	Het

Other mutations in Atxn2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Atxn2l	APN	7	126498288	missense	possibly damaging	0.94
IGL00507:Atxn2l	APN	7	126496584	missense	possibly damaging	0.51
IGL00846:Atxn2l	APN	7	126499178	missense	probably damaging	1.00
IGL01813:Atxn2l	APN	7	126500253	missense	probably damaging	1.00
PIT4378001:Atxn2l	UTSW	7	126497271	missense	probably benign	0.11
R0005:Atxn2l	UTSW	7	126498274	missense	probably damaging	1.00
R0608:Atxn2l	UTSW	7	126501416	splice site	probably null
R0749:Atxn2l	UTSW	7	126500837	missense	possibly damaging	0.50
R0831:Atxn2l	UTSW	7	126499160	missense	probably damaging	1.00
R0881:Atxn2l	UTSW	7	126496596	missense	probably damaging	1.00
R1022:Atxn2l	UTSW	7	126497294	missense	probably benign	0.01
R1024:Atxn2l	UTSW	7	126497294	missense	probably benign	0.01
R1081:Atxn2l	UTSW	7	126494212	missense	probably damaging	1.00
R1132:Atxn2l	UTSW	7	126494248	small deletion	probably benign
R1489:Atxn2l	UTSW	7	126496467	missense	probably damaging	1.00
R1919:Atxn2l	UTSW	7	126493168	missense	probably damaging	0.99
R2062:Atxn2l	UTSW	7	126495866	missense	probably damaging	1.00
R2170:Atxn2l	UTSW	7	126503239	start gained	probably benign
R3719:Atxn2l	UTSW	7	126498130	missense	probably damaging	1.00
R3861:Atxn2l	UTSW	7	126501951	critical splice donor site	probably null
R5061:Atxn2l	UTSW	7	126500203	missense	probably damaging	1.00
R6022:Atxn2l	UTSW	7	126496435	critical splice donor site	probably null
R6075:Atxn2l	UTSW	7	126492517	missense	possibly damaging	0.70
R6131:Atxn2l	UTSW	7	126503165	unclassified	probably benign
R6460:Atxn2l	UTSW	7	126494248	small deletion	probably benign
R6552:Atxn2l	UTSW	7	126493821	missense	possibly damaging	0.70
R7167:Atxn2l	UTSW	7	126499222	missense	possibly damaging	0.76
R7234:Atxn2l	UTSW	7	126493201	missense	probably damaging	1.00
R7301:Atxn2l	UTSW	7	126494211	nonsense	probably null
R7432:Atxn2l	UTSW	7	126493874	missense	possibly damaging	0.46
R7691:Atxn2l	UTSW	7	126492610	critical splice acceptor site	probably null
R7711:Atxn2l	UTSW	7	126501269	missense	probably damaging	1.00
R7849:Atxn2l	UTSW	7	126493173	missense	possibly damaging	0.48
R7870:Atxn2l	UTSW	7	126492752	missense	probably benign
RF006:Atxn2l	UTSW	7	126495891	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTCAACGAGAGGTTCTGAGATCC -3'
(R):5'- GCAGCCACTGTTCACCAATCCTATC -3'

Sequencing Primer
(F):5'- GGTTCTGAGATCCCTTATCAAAGC -3'
(R):5'- AAAGAGCTGGGTCATTCTCC -3'

Posted On

2013-05-09