Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Sptbn2'

405337

Institutional Source

Beutler Lab

Gene Symbol

Sptbn2

Ensembl Gene

ENSMUSG00000067889

Gene Name

spectrin beta, non-erythrocytic 2

Synonyms

Spnb3

MMRRC Submission

042877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4711208-4752353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4718908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 23 (N23S)

Ref Sequence

ENSEMBL: ENSMUSP00000008991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008991]

AlphaFold

Q68FG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008991
AA Change: N23S

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: N23S

Domain	Start	End	E-Value	Type
CH	59	159	1.86e-28	SMART
CH	178	276	2.86e-20	SMART
SPEC	308	414	4.63e-1	SMART
SPEC	428	528	3.07e-23	SMART
SPEC	534	638	4.47e-25	SMART
SPEC	644	744	1.28e-25	SMART
SPEC	750	849	4.98e-23	SMART
SPEC	855	955	1.63e-18	SMART
SPEC	961	1062	1.45e-24	SMART
SPEC	1068	1169	4.15e-20	SMART
SPEC	1175	1275	5.26e-22	SMART
SPEC	1281	1380	1.17e-19	SMART
SPEC	1386	1485	2.06e-24	SMART
SPEC	1491	1585	1.74e-22	SMART
SPEC	1591	1691	5.42e-24	SMART
SPEC	1697	1798	2.1e-21	SMART
SPEC	1804	1904	5.47e-20	SMART
SPEC	1910	2010	1.99e-22	SMART
SPEC	2016	2256	2.92e-6	SMART
PH	2219	2330	1.65e-14	SMART
low complexity region	2373	2386	N/A	INTRINSIC

Meta Mutation Damage Score

0.1018

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,152,003 (GRCm38)		noncoding transcript	Het
Acaca	A	G	11: 84,391,519 (GRCm38)	E2154G	probably benign	Het
Acacb	T	C	5: 114,241,952 (GRCm38)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,811,157 (GRCm38)		probably benign	Het
Amn1	T	A	6: 149,185,124 (GRCm38)		probably benign	Het
Arid1a	C	A	4: 133,691,055 (GRCm38)		probably benign	Het
Aste1	T	A	9: 105,402,705 (GRCm38)		probably null	Het
Asxl3	T	A	18: 22,516,439 (GRCm38)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,988,048 (GRCm38)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,628,766 (GRCm38)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,978,602 (GRCm38)	H101R	probably benign	Het
Bicc1	G	A	10: 70,947,900 (GRCm38)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,878,981 (GRCm38)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,610,440 (GRCm38)	E523G	probably benign	Het
Cops6	G	C	5: 138,161,116 (GRCm38)		probably benign	Het
Cp	G	C	3: 19,966,316 (GRCm38)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,873,483 (GRCm38)	M52K	possibly damaging	Het
Dars1	A	T	1: 128,364,302 (GRCm38)	F480I	probably benign	Het
Diaph1	T	C	18: 37,897,580 (GRCm38)	M274V	unknown	Het
Diaph1	C	A	18: 37,897,550 (GRCm38)	E284*	probably null	Het
Dock8	G	A	19: 25,061,153 (GRCm38)	V68M	probably benign	Het
Elavl4	A	G	4: 110,211,430 (GRCm38)	F247L	possibly damaging	Het
Emc10	C	T	7: 44,496,439 (GRCm38)		probably benign	Het
Fbxw16	T	C	9: 109,436,644 (GRCm38)	D369G	probably benign	Het
Fgr	A	T	4: 132,997,500 (GRCm38)	D304V	probably benign	Het
Filip1l	G	A	16: 57,570,036 (GRCm38)	S91N	possibly damaging	Het
Haus8	A	G	8: 71,255,710 (GRCm38)	S103P	unknown	Het
Hscb	A	G	5: 110,834,792 (GRCm38)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 105,523,297 (GRCm38)	M347L	probably benign	Het
Jrk	C	A	15: 74,707,336 (GRCm38)	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,121,832 (GRCm38)	Y123*	probably null	Het
Lrrc37	A	G	11: 103,616,231 (GRCm38)		probably benign	Het
Mis18bp1	A	C	12: 65,157,043 (GRCm38)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,409,873 (GRCm38)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,427,794 (GRCm38)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,400,800 (GRCm38)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,517,506 (GRCm38)		probably null	Het
Or10x4	A	T	1: 174,391,225 (GRCm38)	Y52F	probably benign	Het
Or11h23	A	G	14: 50,710,443 (GRCm38)	T38A	possibly damaging	Het
Or11h23	A	G	14: 50,710,779 (GRCm38)	I150V	probably benign	Het
Or52w1	C	T	7: 105,368,413 (GRCm38)	T20I	probably benign	Het
Otud4	A	T	8: 79,672,892 (GRCm38)	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,115,568 (GRCm38)	I166N	possibly damaging	Het
Pak2	T	A	16: 32,021,830 (GRCm38)	N478Y	probably damaging	Het
Papss2	A	G	19: 32,639,000 (GRCm38)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,728,111 (GRCm38)		probably null	Het
Peg3	C	A	7: 6,717,849 (GRCm38)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,668,893 (GRCm38)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,478,668 (GRCm38)	F1737L	probably benign	Het
Rex2	A	C	4: 147,057,985 (GRCm38)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003 (GRCm38)		probably null	Het
Rnf39	C	T	17: 36,947,200 (GRCm38)	A86V	probably damaging	Het
Ror1	A	T	4: 100,425,938 (GRCm38)	N400I	probably benign	Het
Slc38a8	C	T	8: 119,494,289 (GRCm38)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,956,310 (GRCm38)	V445A	probably benign	Het
Taf5l	A	G	8: 124,008,218 (GRCm38)	F74L	probably benign	Het
Trappc11	G	C	8: 47,530,731 (GRCm38)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,472,488 (GRCm38)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,773,414 (GRCm38)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,777,190 (GRCm38)	V161A	probably benign	Het
Usp24	A	G	4: 106,362,357 (GRCm38)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,651,864 (GRCm38)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,455,113 (GRCm38)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,069,754 (GRCm38)	C517*	probably null	Het
Vps13a	A	T	19: 16,641,667 (GRCm38)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,071,033 (GRCm38)	E283D	probably benign	Het
Xpo5	T	C	17: 46,236,922 (GRCm38)	V896A	probably benign	Het
Zfp2	T	C	11: 50,901,241 (GRCm38)		probably benign	Het
Zgrf1	G	A	3: 127,600,980 (GRCm38)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,979,577 (GRCm38)	D686G	possibly damaging	Het

Other mutations in Sptbn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Sptbn2	APN	19	4,724,705 (GRCm38)	missense	possibly damaging	0.94
IGL00688:Sptbn2	APN	19	4,725,938 (GRCm38)	missense	probably damaging	1.00
IGL01339:Sptbn2	APN	19	4,745,972 (GRCm38)	nonsense	probably null
IGL01373:Sptbn2	APN	19	4,745,972 (GRCm38)	nonsense	probably null
IGL01420:Sptbn2	APN	19	4,734,125 (GRCm38)	missense	probably benign
IGL01456:Sptbn2	APN	19	4,746,749 (GRCm38)	missense	probably damaging	1.00
IGL01953:Sptbn2	APN	19	4,749,693 (GRCm38)	missense	probably benign
IGL03026:Sptbn2	APN	19	4,724,233 (GRCm38)	critical splice donor site	probably null
IGL03275:Sptbn2	APN	19	4,732,661 (GRCm38)	missense	possibly damaging	0.65
IGL03286:Sptbn2	APN	19	4,747,832 (GRCm38)	missense	probably damaging	0.97
F5770:Sptbn2	UTSW	19	4,750,632 (GRCm38)	missense	probably damaging	1.00
PIT4696001:Sptbn2	UTSW	19	4,745,577 (GRCm38)	missense	probably benign	0.00
R0046:Sptbn2	UTSW	19	4,745,377 (GRCm38)	intron	probably benign
R0046:Sptbn2	UTSW	19	4,745,377 (GRCm38)	intron	probably benign
R0121:Sptbn2	UTSW	19	4,745,293 (GRCm38)	missense	probably damaging	1.00
R0127:Sptbn2	UTSW	19	4,724,744 (GRCm38)	missense	probably damaging	1.00
R0212:Sptbn2	UTSW	19	4,746,942 (GRCm38)	critical splice donor site	probably null
R0277:Sptbn2	UTSW	19	4,745,145 (GRCm38)	missense	probably benign	0.28
R0417:Sptbn2	UTSW	19	4,737,926 (GRCm38)	missense	probably benign	0.01
R0457:Sptbn2	UTSW	19	4,745,938 (GRCm38)	missense	possibly damaging	0.89
R0536:Sptbn2	UTSW	19	4,726,690 (GRCm38)	missense	probably damaging	0.99
R0631:Sptbn2	UTSW	19	4,739,986 (GRCm38)	missense	probably benign	0.01
R0734:Sptbn2	UTSW	19	4,748,123 (GRCm38)	nonsense	probably null
R0742:Sptbn2	UTSW	19	4,718,983 (GRCm38)	missense	possibly damaging	0.46
R1195:Sptbn2	UTSW	19	4,745,893 (GRCm38)	missense	possibly damaging	0.85
R1195:Sptbn2	UTSW	19	4,745,893 (GRCm38)	missense	possibly damaging	0.85
R1195:Sptbn2	UTSW	19	4,745,893 (GRCm38)	missense	possibly damaging	0.85
R1364:Sptbn2	UTSW	19	4,732,665 (GRCm38)	missense	probably damaging	1.00
R1495:Sptbn2	UTSW	19	4,718,976 (GRCm38)	missense	possibly damaging	0.92
R1498:Sptbn2	UTSW	19	4,744,246 (GRCm38)	missense	possibly damaging	0.94
R1606:Sptbn2	UTSW	19	4,750,242 (GRCm38)	critical splice donor site	probably null
R1678:Sptbn2	UTSW	19	4,750,497 (GRCm38)	missense	probably damaging	1.00
R1746:Sptbn2	UTSW	19	4,745,964 (GRCm38)	nonsense	probably null
R1820:Sptbn2	UTSW	19	4,726,596 (GRCm38)	missense	probably damaging	0.98
R1830:Sptbn2	UTSW	19	4,732,541 (GRCm38)	missense	probably benign	0.09
R1863:Sptbn2	UTSW	19	4,732,685 (GRCm38)	missense	possibly damaging	0.54
R1967:Sptbn2	UTSW	19	4,745,299 (GRCm38)	missense	probably benign	0.00
R2085:Sptbn2	UTSW	19	4,738,559 (GRCm38)	missense	probably benign	0.09
R2301:Sptbn2	UTSW	19	4,734,138 (GRCm38)	missense	probably benign	0.00
R2310:Sptbn2	UTSW	19	4,718,935 (GRCm38)	missense	probably benign	0.19
R2888:Sptbn2	UTSW	19	4,748,636 (GRCm38)	missense	possibly damaging	0.52
R3788:Sptbn2	UTSW	19	4,745,922 (GRCm38)	missense	probably damaging	1.00
R4429:Sptbn2	UTSW	19	4,738,355 (GRCm38)	missense	probably damaging	1.00
R4536:Sptbn2	UTSW	19	4,732,602 (GRCm38)	missense	probably damaging	1.00
R4662:Sptbn2	UTSW	19	4,739,239 (GRCm38)	missense	probably damaging	1.00
R4672:Sptbn2	UTSW	19	4,732,496 (GRCm38)	missense	probably benign	0.25
R4731:Sptbn2	UTSW	19	4,742,480 (GRCm38)	missense	probably damaging	0.96
R4747:Sptbn2	UTSW	19	4,748,154 (GRCm38)	missense	probably benign	0.27
R4889:Sptbn2	UTSW	19	4,729,430 (GRCm38)	missense	possibly damaging	0.69
R4891:Sptbn2	UTSW	19	4,738,469 (GRCm38)	missense	probably damaging	1.00
R4965:Sptbn2	UTSW	19	4,729,309 (GRCm38)	missense	probably benign	0.13
R4968:Sptbn2	UTSW	19	4,729,202 (GRCm38)	splice site	probably null
R4981:Sptbn2	UTSW	19	4,751,658 (GRCm38)	missense	probably benign	0.22
R5159:Sptbn2	UTSW	19	4,737,857 (GRCm38)	missense	probably benign	0.12
R5202:Sptbn2	UTSW	19	4,724,184 (GRCm38)	missense	probably damaging	1.00
R5253:Sptbn2	UTSW	19	4,750,082 (GRCm38)	missense	probably benign	0.01
R5465:Sptbn2	UTSW	19	4,750,105 (GRCm38)	missense	probably benign	0.00
R5546:Sptbn2	UTSW	19	4,725,950 (GRCm38)	missense	probably damaging	1.00
R5593:Sptbn2	UTSW	19	4,748,947 (GRCm38)	missense	probably damaging	1.00
R5780:Sptbn2	UTSW	19	4,724,667 (GRCm38)	missense	probably damaging	1.00
R5835:Sptbn2	UTSW	19	4,738,219 (GRCm38)	missense	probably damaging	1.00
R6008:Sptbn2	UTSW	19	4,739,278 (GRCm38)	missense	possibly damaging	0.89
R6108:Sptbn2	UTSW	19	4,731,392 (GRCm38)	critical splice donor site	probably null
R6236:Sptbn2	UTSW	19	4,748,138 (GRCm38)	missense	probably benign	0.01
R6307:Sptbn2	UTSW	19	4,724,646 (GRCm38)	missense	probably damaging	1.00
R6383:Sptbn2	UTSW	19	4,732,496 (GRCm38)	missense	possibly damaging	0.89
R6397:Sptbn2	UTSW	19	4,742,418 (GRCm38)	missense	possibly damaging	0.91
R6453:Sptbn2	UTSW	19	4,744,180 (GRCm38)	missense	possibly damaging	0.67
R6561:Sptbn2	UTSW	19	4,747,926 (GRCm38)	missense	probably benign	0.39
R6564:Sptbn2	UTSW	19	4,732,024 (GRCm38)	missense	probably damaging	1.00
R6644:Sptbn2	UTSW	19	4,749,012 (GRCm38)	missense	probably benign	0.05
R6703:Sptbn2	UTSW	19	4,749,815 (GRCm38)	missense	probably benign
R6703:Sptbn2	UTSW	19	4,749,814 (GRCm38)	missense	probably benign
R6753:Sptbn2	UTSW	19	4,747,785 (GRCm38)	missense	probably benign	0.01
R7007:Sptbn2	UTSW	19	4,744,145 (GRCm38)	missense	possibly damaging	0.82
R7131:Sptbn2	UTSW	19	4,749,460 (GRCm38)	missense	probably null
R7219:Sptbn2	UTSW	19	4,724,173 (GRCm38)	missense	probably damaging	1.00
R7285:Sptbn2	UTSW	19	4,737,443 (GRCm38)	missense	probably benign	0.00
R7308:Sptbn2	UTSW	19	4,751,574 (GRCm38)	missense	probably benign
R7469:Sptbn2	UTSW	19	4,745,118 (GRCm38)	missense	probably benign	0.00
R7502:Sptbn2	UTSW	19	4,748,082 (GRCm38)	missense	probably benign	0.02
R7623:Sptbn2	UTSW	19	4,726,168 (GRCm38)	missense	probably damaging	1.00
R7635:Sptbn2	UTSW	19	4,744,207 (GRCm38)	missense	probably damaging	1.00
R7733:Sptbn2	UTSW	19	4,749,012 (GRCm38)	missense	probably benign	0.05
R7738:Sptbn2	UTSW	19	4,724,125 (GRCm38)	missense	probably damaging	1.00
R7742:Sptbn2	UTSW	19	4,749,012 (GRCm38)	missense	probably benign	0.05
R7767:Sptbn2	UTSW	19	4,734,143 (GRCm38)	missense	possibly damaging	0.62
R7795:Sptbn2	UTSW	19	4,749,012 (GRCm38)	missense	probably benign	0.05
R7796:Sptbn2	UTSW	19	4,749,012 (GRCm38)	missense	probably benign	0.05
R7871:Sptbn2	UTSW	19	4,749,012 (GRCm38)	missense	probably benign	0.05
R7877:Sptbn2	UTSW	19	4,744,262 (GRCm38)	missense	possibly damaging	0.93
R7920:Sptbn2	UTSW	19	4,749,012 (GRCm38)	missense	probably benign	0.05
R7921:Sptbn2	UTSW	19	4,749,012 (GRCm38)	missense	probably benign	0.05
R7923:Sptbn2	UTSW	19	4,746,799 (GRCm38)	missense	probably benign	0.01
R8137:Sptbn2	UTSW	19	4,737,403 (GRCm38)	missense	possibly damaging	0.81
R8305:Sptbn2	UTSW	19	4,729,130 (GRCm38)	missense	possibly damaging	0.81
R8695:Sptbn2	UTSW	19	4,746,696 (GRCm38)	missense	possibly damaging	0.86
R8790:Sptbn2	UTSW	19	4,732,024 (GRCm38)	missense	probably damaging	1.00
R9125:Sptbn2	UTSW	19	4,734,213 (GRCm38)	missense	probably benign	0.04
R9483:Sptbn2	UTSW	19	4,739,946 (GRCm38)	missense	probably damaging	1.00
R9620:Sptbn2	UTSW	19	4,750,507 (GRCm38)	missense	probably damaging	0.99
R9631:Sptbn2	UTSW	19	4,738,190 (GRCm38)	missense	probably damaging	1.00
R9646:Sptbn2	UTSW	19	4,745,313 (GRCm38)	missense	probably damaging	1.00
R9694:Sptbn2	UTSW	19	4,750,507 (GRCm38)	missense	probably damaging	0.99
V7580:Sptbn2	UTSW	19	4,750,632 (GRCm38)	missense	probably damaging	1.00
Z1176:Sptbn2	UTSW	19	4,745,191 (GRCm38)	missense	probably benign	0.01
Z1176:Sptbn2	UTSW	19	4,738,205 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCTCTGGCTCCAGCAAAG -3'
(R):5'- AGAGACCGAGGCAAGTCTTC -3'

Sequencing Primer
(F):5'- TGGTCTACAAGGCAAGTTCC -3'
(R):5'- TCTTCCCATAAAGACAGAGGATTCTC -3'

Posted On

2016-07-22