Incidental Mutation 'R8137:Sptbn2'
ID 632331
Institutional Source Beutler Lab
Gene Symbol Sptbn2
Ensembl Gene ENSMUSG00000067889
Gene Name spectrin beta, non-erythrocytic 2
Synonyms Spnb3
MMRRC Submission 067565-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8137 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4761195-4802388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4787431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 914 (I914F)
Ref Sequence ENSEMBL: ENSMUSP00000008991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008991]
AlphaFold Q68FG2
Predicted Effect possibly damaging
Transcript: ENSMUST00000008991
AA Change: I914F

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: I914F

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.8%
  • 20x: 96.4%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 T G 11: 89,344,003 (GRCm39) Q326H probably benign Het
Carf G A 1: 60,187,124 (GRCm39) V576I probably benign Het
Ccnl1 C T 3: 65,865,291 (GRCm39) D87N possibly damaging Het
Cgref1 T A 5: 31,091,749 (GRCm39) D111V possibly damaging Het
Cnot4 G A 6: 35,023,222 (GRCm39) P567S unknown Het
Cyp7b1 A T 3: 18,151,765 (GRCm39) D149E probably benign Het
Dcc A T 18: 71,511,783 (GRCm39) D877E probably benign Het
Dhx8 T A 11: 101,654,808 (GRCm39) I1032N probably damaging Het
Dnah7b A G 1: 46,272,913 (GRCm39) Y2347C probably damaging Het
Dtx3 A G 10: 127,029,041 (GRCm39) S63P possibly damaging Het
Dyrk2 C T 10: 118,695,789 (GRCm39) E490K probably benign Het
Fcgbp A C 7: 27,804,496 (GRCm39) Y1868S probably damaging Het
Foxa2 T C 2: 147,885,768 (GRCm39) H355R probably benign Het
Fpr-rs7 A G 17: 20,334,055 (GRCm39) V145A possibly damaging Het
Gm14137 A T 2: 119,005,837 (GRCm39) E132V probably benign Het
Gpn2 T C 4: 133,315,873 (GRCm39) S211P possibly damaging Het
Greb1l A T 18: 10,474,357 (GRCm39) Q224L possibly damaging Het
Gspt1 A G 16: 11,058,532 (GRCm39) V144A probably benign Het
Ifi204 A G 1: 173,589,188 (GRCm39) I81T possibly damaging Het
Il27ra T A 8: 84,767,720 (GRCm39) probably null Het
Kif21a T C 15: 90,852,645 (GRCm39) T862A probably benign Het
Klf2 T C 8: 73,074,088 (GRCm39) probably null Het
Kmt2e A G 5: 23,706,952 (GRCm39) Y1505C probably damaging Het
Mcm9 T C 10: 53,499,076 (GRCm39) T216A Het
Muc16 T C 9: 18,556,972 (GRCm39) E3107G unknown Het
Ncor2 C T 5: 125,114,957 (GRCm39) V169I Het
Oas3 T C 5: 120,915,565 (GRCm39) Q42R probably benign Het
Or2l5 A G 16: 19,333,846 (GRCm39) V180A possibly damaging Het
Or4p8 T C 2: 88,727,013 (GRCm39) *309W probably null Het
Pde10a A G 17: 9,193,647 (GRCm39) Y693C possibly damaging Het
Pde11a T C 2: 76,041,383 (GRCm39) E429G possibly damaging Het
Pramel23 A G 4: 143,425,835 (GRCm39) F36S probably damaging Het
Pygo1 A G 9: 72,852,140 (GRCm39) H109R probably damaging Het
Rbsn A T 6: 92,167,003 (GRCm39) V547D probably benign Het
Ros1 A G 10: 52,001,933 (GRCm39) I1084T possibly damaging Het
Sis T C 3: 72,796,378 (GRCm39) D1801G probably benign Het
Slco4c1 C T 1: 96,748,970 (GRCm39) G649E probably damaging Het
Spmip10 A G 18: 56,727,653 (GRCm39) D117G probably damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Strc C T 2: 121,197,219 (GRCm39) G1503R probably damaging Het
Sv2c T A 13: 96,225,171 (GRCm39) Y46F probably damaging Het
Tctn3 A T 19: 40,593,785 (GRCm39) W462R probably damaging Het
Tjp3 T C 10: 81,109,525 (GRCm39) D857G probably benign Het
Tor1aip2 C T 1: 155,939,414 (GRCm39) T242I possibly damaging Het
Ttn T A 2: 76,800,273 (GRCm39) I312F unknown Het
Vezt T C 10: 93,775,154 (GRCm39) N94D Het
Vmn2r105 T C 17: 20,454,966 (GRCm39) N57D probably benign Het
Wdr59 T C 8: 112,212,011 (GRCm39) D353G Het
Ykt6 T C 11: 5,909,368 (GRCm39) V59A probably damaging Het
Ypel3 T G 7: 126,377,269 (GRCm39) V54G possibly damaging Het
Zfp386 T A 12: 116,023,268 (GRCm39) C329S possibly damaging Het
Zfp451 A T 1: 33,821,156 (GRCm39) L232H possibly damaging Het
Zfp648 A G 1: 154,081,110 (GRCm39) H423R probably damaging Het
Zfp729b T C 13: 67,740,861 (GRCm39) Y468C 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
R5593:Sptbn2 UTSW 19 4,798,975 (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
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'- AGTTGGGGACAGACTCACAG -3'
(R):5'- AATTGCAGTCAGGTTTCTTTCC -3'

Sequencing Primer
(F):5'- TACTGTGGACCTTATAGGCCAAG -3'
(R):5'- AGTCAGGTTTCTTTCCTCATCTTCAG -3'
Posted On 2020-06-30