Incidental Mutation 'R5593:Sptbn2'
ID 437668
Institutional Source Beutler Lab
Gene Symbol Sptbn2
Ensembl Gene ENSMUSG00000067889
Gene Name spectrin beta, non-erythrocytic 2
Synonyms Spnb3
MMRRC Submission 043145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5593 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4761195-4802388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4798975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 2015 (V2015E)
Ref Sequence ENSEMBL: ENSMUSP00000008991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008991] [ENSMUST00000178353]
AlphaFold Q68FG2
Predicted Effect probably damaging
Transcript: ENSMUST00000008991
AA Change: V2015E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: V2015E

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000178353
SMART Domains Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
Pfam:RRM_1 81 118 5.6e-7 PFAM
Meta Mutation Damage Score 0.5312 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (71/71)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
Anpep T G 7: 79,491,794 (GRCm39) K69T probably benign Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
Copb2 A G 9: 98,469,091 (GRCm39) probably null Het
Cpa5 T C 6: 30,630,848 (GRCm39) I370T probably benign Het
Cpn2 T C 16: 30,078,898 (GRCm39) T268A probably benign Het
Ctbp2 C A 7: 132,600,598 (GRCm39) R99I possibly damaging Het
Cul1 G A 6: 47,462,020 (GRCm39) W196* probably null Het
Cul1 T C 6: 47,491,925 (GRCm39) F402L probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Dyrk1a C A 16: 94,460,442 (GRCm39) Q33K possibly damaging Het
Elapor2 T A 5: 9,316,350 (GRCm39) L27Q probably benign Het
Epg5 T A 18: 78,000,689 (GRCm39) S542T probably damaging Het
Eps8l3 A T 3: 107,798,504 (GRCm39) probably benign Het
Evc2 A G 5: 37,544,321 (GRCm39) H690R probably damaging Het
Fam227a G A 15: 79,524,259 (GRCm39) probably benign Het
Gadl1 G T 9: 115,835,718 (GRCm39) G382V probably damaging Het
Gbf1 A G 19: 46,260,963 (GRCm39) Q1176R possibly damaging Het
Gdf9 A T 11: 53,324,558 (GRCm39) H109L probably damaging Het
Gsdmd T A 15: 75,738,856 (GRCm39) V411D probably damaging Het
Hdc T C 2: 126,460,504 (GRCm39) probably benign Het
Ifrd2 A G 9: 107,467,374 (GRCm39) D82G probably damaging Het
Itpkb T C 1: 180,161,661 (GRCm39) S596P probably damaging Het
Kcnmb3 A G 3: 32,546,096 (GRCm39) V8A possibly damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mcm9 G A 10: 53,414,393 (GRCm39) T229I probably damaging Het
Medag T A 5: 149,350,415 (GRCm39) F21L probably benign Het
Mefv A T 16: 3,533,315 (GRCm39) C319S probably benign Het
Mettl23 T A 11: 116,734,593 (GRCm39) V54D probably damaging Het
Mul1 A G 4: 138,166,543 (GRCm39) D199G probably damaging Het
Ncor1 A T 11: 62,260,130 (GRCm39) I266N probably damaging Het
Nek10 A T 14: 14,980,544 (GRCm38) K967* probably null Het
Nrcam A G 12: 44,606,483 (GRCm39) T410A probably damaging Het
Or1p1 A G 11: 74,179,618 (GRCm39) I49V possibly damaging Het
Or2b11 T C 11: 59,461,874 (GRCm39) R231G possibly damaging Het
Or52d13 C T 7: 103,109,592 (GRCm39) silent Het
Or52e4 T C 7: 104,705,711 (GRCm39) I86T probably damaging Het
Pate2 A T 9: 35,581,778 (GRCm39) D24V possibly damaging Het
Plcb3 T C 19: 6,932,117 (GRCm39) I1124V possibly damaging Het
Ptprc A T 1: 138,045,458 (GRCm39) probably benign Het
Rab6a T C 7: 100,257,378 (GRCm39) probably benign Het
Rnf208 G T 2: 25,133,345 (GRCm39) W13L possibly damaging Het
Rps6kl1 G T 12: 85,193,675 (GRCm39) Q139K possibly damaging Het
Sdk1 T A 5: 141,941,879 (GRCm39) I509N probably damaging Het
Sephs1 A G 2: 4,898,098 (GRCm39) I170V probably benign Het
Slc17a8 C T 10: 89,442,702 (GRCm39) D44N probably benign Het
Slc23a1 T A 18: 35,755,349 (GRCm39) I489F probably damaging Het
Slc25a19 A T 11: 115,507,418 (GRCm39) Y235N probably damaging Het
Slc47a2 A G 11: 61,233,486 (GRCm39) V40A probably benign Het
Slurp2 C T 15: 74,614,917 (GRCm39) V75I probably benign Het
Smc1b A C 15: 85,005,842 (GRCm39) M354R probably benign Het
Spice1 C A 16: 44,191,115 (GRCm39) A323E possibly damaging Het
Sptlc2 A C 12: 87,415,857 (GRCm39) F57V probably benign Het
Srsf1 A G 11: 87,938,705 (GRCm39) N14S possibly damaging Het
Ssh2 T A 11: 77,312,192 (GRCm39) D228E probably damaging Het
Synj2 A G 17: 6,088,390 (GRCm39) *1480W probably null Het
Syt14 A T 1: 192,613,231 (GRCm39) M523K probably damaging Het
Tff3 A T 17: 31,348,516 (GRCm39) V12E probably benign Het
Tgm2 C A 2: 157,969,262 (GRCm39) C371F probably damaging Het
Tmem260 A C 14: 48,711,501 (GRCm39) I197L probably benign Het
Unc5a A G 13: 55,152,747 (GRCm39) D887G possibly damaging Het
Vstm4 G T 14: 32,641,247 (GRCm39) A277S probably benign Het
Wdtc1 A T 4: 133,021,702 (GRCm39) probably null Het
Zan A G 5: 137,466,600 (GRCm39) F419S possibly damaging Het
Zfp317 G A 9: 19,558,584 (GRCm39) R266Q probably damaging Het
Zfp931 T A 2: 177,709,595 (GRCm39) T264S possibly damaging Het
Zpld2 T C 4: 133,920,350 (GRCm39) K605R probably damaging Het
Other mutations in Sptbn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Sptbn2 APN 19 4,774,733 (GRCm39) missense possibly damaging 0.94
IGL00688:Sptbn2 APN 19 4,775,966 (GRCm39) missense probably damaging 1.00
IGL01339:Sptbn2 APN 19 4,796,000 (GRCm39) nonsense probably null
IGL01373:Sptbn2 APN 19 4,796,000 (GRCm39) nonsense probably null
IGL01420:Sptbn2 APN 19 4,784,153 (GRCm39) missense probably benign
IGL01456:Sptbn2 APN 19 4,796,777 (GRCm39) missense probably damaging 1.00
IGL01953:Sptbn2 APN 19 4,799,721 (GRCm39) missense probably benign
IGL03026:Sptbn2 APN 19 4,774,261 (GRCm39) critical splice donor site probably null
IGL03275:Sptbn2 APN 19 4,782,689 (GRCm39) missense possibly damaging 0.65
IGL03286:Sptbn2 APN 19 4,797,860 (GRCm39) missense probably damaging 0.97
F5770:Sptbn2 UTSW 19 4,800,660 (GRCm39) missense probably damaging 1.00
PIT4696001:Sptbn2 UTSW 19 4,795,605 (GRCm39) missense probably benign 0.00
R0046:Sptbn2 UTSW 19 4,795,405 (GRCm39) intron probably benign
R0046:Sptbn2 UTSW 19 4,795,405 (GRCm39) intron probably benign
R0121:Sptbn2 UTSW 19 4,795,321 (GRCm39) missense probably damaging 1.00
R0127:Sptbn2 UTSW 19 4,774,772 (GRCm39) missense probably damaging 1.00
R0212:Sptbn2 UTSW 19 4,796,970 (GRCm39) critical splice donor site probably null
R0277:Sptbn2 UTSW 19 4,795,173 (GRCm39) missense probably benign 0.28
R0417:Sptbn2 UTSW 19 4,787,954 (GRCm39) missense probably benign 0.01
R0457:Sptbn2 UTSW 19 4,795,966 (GRCm39) missense possibly damaging 0.89
R0536:Sptbn2 UTSW 19 4,776,718 (GRCm39) missense probably damaging 0.99
R0631:Sptbn2 UTSW 19 4,790,014 (GRCm39) missense probably benign 0.01
R0734:Sptbn2 UTSW 19 4,798,151 (GRCm39) nonsense probably null
R0742:Sptbn2 UTSW 19 4,769,011 (GRCm39) missense possibly damaging 0.46
R1195:Sptbn2 UTSW 19 4,795,921 (GRCm39) missense possibly damaging 0.85
R1195:Sptbn2 UTSW 19 4,795,921 (GRCm39) missense possibly damaging 0.85
R1195:Sptbn2 UTSW 19 4,795,921 (GRCm39) missense possibly damaging 0.85
R1364:Sptbn2 UTSW 19 4,782,693 (GRCm39) missense probably damaging 1.00
R1495:Sptbn2 UTSW 19 4,769,004 (GRCm39) missense possibly damaging 0.92
R1498:Sptbn2 UTSW 19 4,794,274 (GRCm39) missense possibly damaging 0.94
R1606:Sptbn2 UTSW 19 4,800,270 (GRCm39) critical splice donor site probably null
R1678:Sptbn2 UTSW 19 4,800,525 (GRCm39) missense probably damaging 1.00
R1746:Sptbn2 UTSW 19 4,795,992 (GRCm39) nonsense probably null
R1820:Sptbn2 UTSW 19 4,776,624 (GRCm39) missense probably damaging 0.98
R1830:Sptbn2 UTSW 19 4,782,569 (GRCm39) missense probably benign 0.09
R1863:Sptbn2 UTSW 19 4,782,713 (GRCm39) missense possibly damaging 0.54
R1967:Sptbn2 UTSW 19 4,795,327 (GRCm39) missense probably benign 0.00
R2085:Sptbn2 UTSW 19 4,788,587 (GRCm39) missense probably benign 0.09
R2301:Sptbn2 UTSW 19 4,784,166 (GRCm39) missense probably benign 0.00
R2310:Sptbn2 UTSW 19 4,768,963 (GRCm39) missense probably benign 0.19
R2888:Sptbn2 UTSW 19 4,798,664 (GRCm39) missense possibly damaging 0.52
R3788:Sptbn2 UTSW 19 4,795,950 (GRCm39) missense probably damaging 1.00
R4429:Sptbn2 UTSW 19 4,788,383 (GRCm39) missense probably damaging 1.00
R4536:Sptbn2 UTSW 19 4,782,630 (GRCm39) missense probably damaging 1.00
R4662:Sptbn2 UTSW 19 4,789,267 (GRCm39) missense probably damaging 1.00
R4672:Sptbn2 UTSW 19 4,782,524 (GRCm39) missense probably benign 0.25
R4731:Sptbn2 UTSW 19 4,792,508 (GRCm39) missense probably damaging 0.96
R4747:Sptbn2 UTSW 19 4,798,182 (GRCm39) missense probably benign 0.27
R4889:Sptbn2 UTSW 19 4,779,458 (GRCm39) missense possibly damaging 0.69
R4891:Sptbn2 UTSW 19 4,788,497 (GRCm39) missense probably damaging 1.00
R4965:Sptbn2 UTSW 19 4,779,337 (GRCm39) missense probably benign 0.13
R4968:Sptbn2 UTSW 19 4,779,230 (GRCm39) splice site probably null
R4981:Sptbn2 UTSW 19 4,801,686 (GRCm39) missense probably benign 0.22
R5159:Sptbn2 UTSW 19 4,787,885 (GRCm39) missense probably benign 0.12
R5202:Sptbn2 UTSW 19 4,774,212 (GRCm39) missense probably damaging 1.00
R5253:Sptbn2 UTSW 19 4,800,110 (GRCm39) missense probably benign 0.01
R5294:Sptbn2 UTSW 19 4,768,936 (GRCm39) missense possibly damaging 0.67
R5465:Sptbn2 UTSW 19 4,800,133 (GRCm39) missense probably benign 0.00
R5546:Sptbn2 UTSW 19 4,775,978 (GRCm39) missense probably damaging 1.00
R5780:Sptbn2 UTSW 19 4,774,695 (GRCm39) missense probably damaging 1.00
R5835:Sptbn2 UTSW 19 4,788,247 (GRCm39) missense probably damaging 1.00
R6008:Sptbn2 UTSW 19 4,789,306 (GRCm39) missense possibly damaging 0.89
R6108:Sptbn2 UTSW 19 4,781,420 (GRCm39) critical splice donor site probably null
R6236:Sptbn2 UTSW 19 4,798,166 (GRCm39) missense probably benign 0.01
R6307:Sptbn2 UTSW 19 4,774,674 (GRCm39) missense probably damaging 1.00
R6383:Sptbn2 UTSW 19 4,782,524 (GRCm39) missense possibly damaging 0.89
R6397:Sptbn2 UTSW 19 4,792,446 (GRCm39) missense possibly damaging 0.91
R6453:Sptbn2 UTSW 19 4,794,208 (GRCm39) missense possibly damaging 0.67
R6561:Sptbn2 UTSW 19 4,797,954 (GRCm39) missense probably benign 0.39
R6564:Sptbn2 UTSW 19 4,782,052 (GRCm39) missense probably damaging 1.00
R6644:Sptbn2 UTSW 19 4,799,040 (GRCm39) missense probably benign 0.05
R6703:Sptbn2 UTSW 19 4,799,843 (GRCm39) missense probably benign
R6703:Sptbn2 UTSW 19 4,799,842 (GRCm39) missense probably benign
R6753:Sptbn2 UTSW 19 4,797,813 (GRCm39) missense probably benign 0.01
R7007:Sptbn2 UTSW 19 4,794,173 (GRCm39) missense possibly damaging 0.82
R7131:Sptbn2 UTSW 19 4,799,488 (GRCm39) missense probably null
R7219:Sptbn2 UTSW 19 4,774,201 (GRCm39) missense probably damaging 1.00
R7285:Sptbn2 UTSW 19 4,787,471 (GRCm39) missense probably benign 0.00
R7308:Sptbn2 UTSW 19 4,801,602 (GRCm39) missense probably benign
R7469:Sptbn2 UTSW 19 4,795,146 (GRCm39) missense probably benign 0.00
R7502:Sptbn2 UTSW 19 4,798,110 (GRCm39) missense probably benign 0.02
R7623:Sptbn2 UTSW 19 4,776,196 (GRCm39) missense probably damaging 1.00
R7635:Sptbn2 UTSW 19 4,794,235 (GRCm39) missense probably damaging 1.00
R7733:Sptbn2 UTSW 19 4,799,040 (GRCm39) missense probably benign 0.05
R7738:Sptbn2 UTSW 19 4,774,153 (GRCm39) missense probably damaging 1.00
R7742:Sptbn2 UTSW 19 4,799,040 (GRCm39) missense probably benign 0.05
R7767:Sptbn2 UTSW 19 4,784,171 (GRCm39) missense possibly damaging 0.62
R7795:Sptbn2 UTSW 19 4,799,040 (GRCm39) missense probably benign 0.05
R7796:Sptbn2 UTSW 19 4,799,040 (GRCm39) missense probably benign 0.05
R7871:Sptbn2 UTSW 19 4,799,040 (GRCm39) missense probably benign 0.05
R7877:Sptbn2 UTSW 19 4,794,290 (GRCm39) missense possibly damaging 0.93
R7920:Sptbn2 UTSW 19 4,799,040 (GRCm39) missense probably benign 0.05
R7921:Sptbn2 UTSW 19 4,799,040 (GRCm39) missense probably benign 0.05
R7923:Sptbn2 UTSW 19 4,796,827 (GRCm39) missense probably benign 0.01
R8137:Sptbn2 UTSW 19 4,787,431 (GRCm39) missense possibly damaging 0.81
R8305:Sptbn2 UTSW 19 4,779,158 (GRCm39) missense possibly damaging 0.81
R8695:Sptbn2 UTSW 19 4,796,724 (GRCm39) missense possibly damaging 0.86
R8790:Sptbn2 UTSW 19 4,782,052 (GRCm39) missense probably damaging 1.00
R9125:Sptbn2 UTSW 19 4,784,241 (GRCm39) missense probably benign 0.04
R9483:Sptbn2 UTSW 19 4,789,974 (GRCm39) missense probably damaging 1.00
R9620:Sptbn2 UTSW 19 4,800,535 (GRCm39) missense probably damaging 0.99
R9631:Sptbn2 UTSW 19 4,788,218 (GRCm39) missense probably damaging 1.00
R9646:Sptbn2 UTSW 19 4,795,341 (GRCm39) missense probably damaging 1.00
R9694:Sptbn2 UTSW 19 4,800,535 (GRCm39) missense probably damaging 0.99
V7580:Sptbn2 UTSW 19 4,800,660 (GRCm39) missense probably damaging 1.00
Z1176:Sptbn2 UTSW 19 4,795,219 (GRCm39) missense probably benign 0.01
Z1176:Sptbn2 UTSW 19 4,788,233 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTAGCCACAGTGCATGAG -3'
(R):5'- TCTAAGCTCACATGCAGAGAG -3'

Sequencing Primer
(F):5'- ACAGTGCATGAGCCCAGGATC -3'
(R):5'- ACAGTTCTCACCGCAGTG -3'
Posted On 2016-10-26