Incidental Mutation 'R4747:Sptbn2'
ID 357243
Institutional Source Beutler Lab
Gene Symbol Sptbn2
Ensembl Gene ENSMUSG00000067889
Gene Name spectrin beta, non-erythrocytic 2
Synonyms Spnb3
MMRRC Submission 042029-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4747 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4761195-4802388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4798182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1969 (M1969K)
Ref Sequence ENSEMBL: ENSMUSP00000008991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008991] [ENSMUST00000178353]
AlphaFold Q68FG2
Predicted Effect probably benign
Transcript: ENSMUST00000008991
AA Change: M1969K

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000008991
Gene: ENSMUSG00000067889
AA Change: M1969K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik A G 1: 63,795,568 (GRCm39) probably benign Het
Acadvl G T 11: 69,903,334 (GRCm39) N340K probably damaging Het
Adgrl4 T A 3: 151,213,077 (GRCm39) N372K probably benign Het
Adh1 G A 3: 137,994,642 (GRCm39) G321S probably damaging Het
Ankrd26 G T 6: 118,504,718 (GRCm39) N730K probably benign Het
Aoc2 A T 11: 101,219,646 (GRCm39) probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Ccdc7b T C 8: 129,904,716 (GRCm39) V118A probably benign Het
Ccdc88b T A 19: 6,833,509 (GRCm39) R219W probably damaging Het
Ccdc97 T C 7: 25,418,348 (GRCm39) probably null Het
Cfhr4 A T 1: 139,625,922 (GRCm39) C792S probably damaging Het
Ciao3 A T 17: 25,999,327 (GRCm39) Y247F probably benign Het
Cnot1 T C 8: 96,501,310 (GRCm39) N86S probably benign Het
Comp T C 8: 70,829,352 (GRCm39) C310R probably damaging Het
Crtc2 A T 3: 90,167,518 (GRCm39) N281Y probably damaging Het
Cryl1 T C 14: 57,550,559 (GRCm39) K102E probably damaging Het
Csf2ra G A 19: 61,214,491 (GRCm39) R225* probably null Het
Dao A T 5: 114,150,693 (GRCm39) D99V probably benign Het
Dgkd A G 1: 87,861,889 (GRCm39) T815A probably damaging Het
Dhrs7 T C 12: 72,699,892 (GRCm39) T247A probably benign Het
Dnah7c G C 1: 46,572,328 (GRCm39) D934H probably damaging Het
Dnajc15 T C 14: 78,081,896 (GRCm39) Y82C probably benign Het
Dnajc4 T C 19: 6,966,872 (GRCm39) Q152R probably damaging Het
Dsc1 T C 18: 20,227,615 (GRCm39) K541R probably damaging Het
Elp4 G A 2: 105,624,952 (GRCm39) R196C probably damaging Het
Epha8 GC G 4: 136,666,006 (GRCm39) probably null Het
Ercc6 T C 14: 32,291,864 (GRCm39) V1076A probably benign Het
Fgd4 T C 16: 16,241,793 (GRCm39) Y677C probably damaging Het
Fndc3b C A 3: 27,483,114 (GRCm39) C1028F probably damaging Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gabrr3 T A 16: 59,268,277 (GRCm39) probably null Het
Garem1 C A 18: 21,263,000 (GRCm39) V605L probably benign Het
Gbp7 A T 3: 142,248,778 (GRCm39) D347V probably damaging Het
Gdpd4 A G 7: 97,610,840 (GRCm39) T87A possibly damaging Het
Gm12258 C A 11: 58,750,422 (GRCm39) H532Q probably damaging Het
Herc2 A G 7: 55,756,141 (GRCm39) E727G possibly damaging Het
Hfm1 G A 5: 107,065,389 (GRCm39) H97Y probably benign Het
Idua G T 5: 108,828,902 (GRCm39) R335L probably damaging Het
Ifi207 A G 1: 173,556,633 (GRCm39) S702P probably benign Het
Kif16b A T 2: 142,699,346 (GRCm39) V78D probably damaging Het
Klra17 T A 6: 129,849,232 (GRCm39) D114V probably damaging Het
Krt76 A G 15: 101,794,180 (GRCm39) S481P probably damaging Het
Lhfpl5 A G 17: 28,798,950 (GRCm39) D153G probably damaging Het
Med21 T A 6: 146,550,700 (GRCm39) D70E possibly damaging Het
Mroh3 A T 1: 136,113,237 (GRCm39) M739K probably benign Het
Myo1a A G 10: 127,550,307 (GRCm39) E549G probably damaging Het
Neu1 A G 17: 35,153,359 (GRCm39) D294G possibly damaging Het
Nmur2 A T 11: 55,931,105 (GRCm39) I202K probably benign Het
Nop2 T A 6: 125,114,057 (GRCm39) D174E probably benign Het
Ogfr A T 2: 180,236,216 (GRCm39) H267L probably damaging Het
Or10p1 G T 10: 129,444,053 (GRCm39) A99E possibly damaging Het
Or5m8 A G 2: 85,822,271 (GRCm39) T37A probably damaging Het
P2ry13 T A 3: 59,117,308 (GRCm39) I157F probably benign Het
Pank4 T C 4: 155,063,989 (GRCm39) V660A probably damaging Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pcdhb13 T C 18: 37,577,868 (GRCm39) Y749H probably damaging Het
Pcdhga3 C A 18: 37,809,799 (GRCm39) Q751K probably benign Het
Pcnt C T 10: 76,272,299 (GRCm39) E186K possibly damaging Het
Pecam1 A T 11: 106,575,072 (GRCm39) F613I probably benign Het
Pias2 T C 18: 77,240,488 (GRCm39) *615Q probably null Het
Plb1 A T 5: 32,507,003 (GRCm39) M1193L probably benign Het
Pomgnt1 T C 4: 116,013,396 (GRCm39) L506P probably damaging Het
Qrfp T C 2: 31,698,852 (GRCm39) T27A probably damaging Het
Relb C A 7: 19,361,847 (GRCm39) probably null Het
Resf1 A T 6: 149,228,392 (GRCm39) E479D probably damaging Het
Rgl1 G T 1: 152,400,450 (GRCm39) C685* probably null Het
Ric8b A G 10: 84,753,628 (GRCm39) Y8C probably benign Het
Rrp36 G A 17: 46,980,893 (GRCm39) A161V possibly damaging Het
Samd9l G A 6: 3,375,504 (GRCm39) Q586* probably null Het
Sbf1 C T 15: 89,186,916 (GRCm39) D821N probably damaging Het
Septin8 G C 11: 53,427,545 (GRCm39) A255P probably damaging Het
Skp2 T C 15: 9,113,927 (GRCm39) T329A possibly damaging Het
Slc15a2 C T 16: 36,592,498 (GRCm39) V220M probably damaging Het
Slc25a11 T A 11: 70,536,782 (GRCm39) T63S possibly damaging Het
Sowahc T C 10: 59,058,983 (GRCm39) I373T probably benign Het
St14 G A 9: 31,015,053 (GRCm39) T315M possibly damaging Het
Tagap G A 17: 8,151,030 (GRCm39) R284H probably benign Het
Tdpoz3 T A 3: 93,733,476 (GRCm39) S50R possibly damaging Het
Thoc5 A G 11: 4,854,187 (GRCm39) D182G probably damaging Het
Tinag A G 9: 76,904,238 (GRCm39) V395A probably benign Het
Tmc8 A G 11: 117,683,550 (GRCm39) S702G probably benign Het
Tmem202 A G 9: 59,426,477 (GRCm39) S230P possibly damaging Het
Tmem203 T C 2: 25,145,764 (GRCm39) V28A probably benign Het
Traf3ip1 A T 1: 91,455,479 (GRCm39) S647C probably damaging Het
Tram1 A T 1: 13,659,870 (GRCm39) I26N probably damaging Het
Ttc6 A T 12: 57,721,478 (GRCm39) D989V possibly damaging Het
Ttll6 A G 11: 96,036,372 (GRCm39) T334A possibly damaging Het
Ttn A T 2: 76,750,086 (GRCm39) D3654E probably damaging Het
Ufd1 T G 16: 18,639,832 (GRCm39) V112G probably damaging Het
Usp9y A T Y: 1,391,284 (GRCm39) Y629N possibly damaging Het
Vmn2r1 A G 3: 63,989,267 (GRCm39) I69V probably benign Het
Zfp180 A T 7: 23,805,246 (GRCm39) Y555F probably damaging Het
Zfp438 T C 18: 5,214,403 (GRCm39) N185S probably benign Het
Zfp445 C T 9: 122,686,215 (GRCm39) V15I possibly damaging Het
Zfp462 A G 4: 55,013,476 (GRCm39) E1814G probably benign 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
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
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'- ATAGTGCCTGGTGTCCTTCAC -3'
(R):5'- TCTATGGACAGCATCGGGAG -3'

Sequencing Primer
(F):5'- GTCCTTCACAAGTTGTATGATGC -3'
(R):5'- GCAATGTCAAAGCACTTGGC -3'
Posted On 2015-11-11