Incidental Mutation 'R1993:Spsb2'
ID 223883
Institutional Source Beutler Lab
Gene Symbol Spsb2
Ensembl Gene ENSMUSG00000038451
Gene Name splA/ryanodine receptor domain and SOCS box containing 2
Synonyms Grcc9, SSB2
MMRRC Submission 040004-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R1993 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 124785640-124787582 bp(+) (GRCm39)
Type of Mutation splice site (1220 bp from exon)
DNA Base Change (assembly) T to C at 124786329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000130160] [ENSMUST00000143040] [ENSMUST00000172132] [ENSMUST00000149610]
AlphaFold O88838
Predicted Effect probably benign
Transcript: ENSMUST00000047760
AA Change: S21P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
AA Change: S21P

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
SOCS 219 264 7.93e-13 SMART
SOCS_box 225 264 8.27e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052727
AA Change: S21P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
AA Change: S21P

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
SOCS 219 264 7.93e-13 SMART
SOCS_box 225 264 8.27e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112473
AA Change: S21P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
AA Change: S21P

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130160
AA Change: S21P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451
AA Change: S21P

DomainStartEndE-ValueType
SPRY 86 208 1.1e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139716
Predicted Effect probably benign
Transcript: ENSMUST00000143040
AA Change: S21P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451
AA Change: S21P

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204602
Predicted Effect probably null
Transcript: ENSMUST00000172132
SMART Domains Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456

DomainStartEndE-ValueType
Pfam:TIM 57 295 9.2e-86 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149610
SMART Domains Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

DomainStartEndE-ValueType
Pfam:TIM 1 163 1.1e-65 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the SSB family of proteins that contain a central SPRY (repeats in splA and ryanodine receptors) domain and a C-terminal SOCS (suppressor of cytokine signaling) box. The encoded protein is an adaptor protein in the E3 ubiquitin ligase complex that ubiquitinates inducible nitric oxide synthase and targets it for proteasomal degradation. Mice lacking the encoded protein exhibit lower blood urea nitrogen levels and mild thrombocytopenia due to reduced platelet production. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice exhibit mild thrombocytopenia and decreased blood urea nitrogen levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,871,322 (GRCm39) I292S possibly damaging Het
Abcc4 T C 14: 118,763,694 (GRCm39) N1047S probably benign Het
Abcc8 G T 7: 45,766,847 (GRCm39) probably null Het
Akap9 T A 5: 4,088,520 (GRCm39) probably null Het
Alox5 T A 6: 116,392,424 (GRCm39) I366F probably damaging Het
Amn A G 12: 111,242,526 (GRCm39) N447S probably damaging Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Asic1 G T 15: 99,569,765 (GRCm39) G29C probably damaging Het
Atxn7l1 A G 12: 33,395,976 (GRCm39) N235S probably benign Het
AY358078 T A 14: 52,063,519 (GRCm39) D388E probably damaging Het
Bod1l A G 5: 41,974,679 (GRCm39) S2212P probably damaging Het
Cacna1e T A 1: 154,353,563 (GRCm39) Q423L probably damaging Het
Calu T C 6: 29,366,974 (GRCm39) I62T possibly damaging Het
Cars2 A G 8: 11,564,515 (GRCm39) V75A probably benign Het
Catsperb T A 12: 101,569,026 (GRCm39) N899K possibly damaging Het
Ccdc50 T A 16: 27,228,089 (GRCm39) C86* probably null Het
Cdh5 G T 8: 104,864,447 (GRCm39) L469F probably damaging Het
Clrn3 A T 7: 135,115,848 (GRCm39) D167E probably benign Het
Csmd1 A T 8: 16,396,698 (GRCm39) C411S probably damaging Het
Dchs1 A T 7: 105,411,755 (GRCm39) S1454T probably benign Het
Ddx20 G A 3: 105,586,660 (GRCm39) Q562* probably null Het
Dgkg T G 16: 22,419,344 (GRCm39) Y52S probably damaging Het
Dhx58 T C 11: 100,594,316 (GRCm39) probably null Het
Dpp6 A T 5: 27,604,004 (GRCm39) I145L probably benign Het
Efna2 A T 10: 80,022,711 (GRCm39) Y85F possibly damaging Het
Eif3a C T 19: 60,769,954 (GRCm39) V127I probably benign Het
Exph5 A T 9: 53,284,935 (GRCm39) H672L possibly damaging Het
Fam131b T C 6: 42,297,818 (GRCm39) T112A possibly damaging Het
Fcgr1 A T 3: 96,193,184 (GRCm39) V271E probably damaging Het
Fgfr4 A G 13: 55,313,715 (GRCm39) D508G probably damaging Het
Fndc3b A G 3: 27,473,549 (GRCm39) M1172T probably benign Het
Fryl G T 5: 73,265,836 (GRCm39) T495K probably damaging Het
Garin5b A T 7: 4,761,017 (GRCm39) V565E probably damaging Het
Gm5134 A T 10: 75,802,227 (GRCm39) I93F probably damaging Het
Gpbar1 G A 1: 74,318,603 (GRCm39) G282D possibly damaging Het
Gria2 G A 3: 80,709,664 (GRCm39) L10F probably benign Het
Grm7 T C 6: 111,184,769 (GRCm39) Y367H probably benign Het
H1f9 T A 11: 94,858,858 (GRCm39) V51E probably damaging Het
Hivep1 G A 13: 42,310,969 (GRCm39) A1070T probably benign Het
Il33 A G 19: 29,934,304 (GRCm39) D155G possibly damaging Het
Kdm6b T C 11: 69,297,129 (GRCm39) S408G probably null Het
Kntc1 A G 5: 123,948,874 (GRCm39) probably null Het
Kntc1 G A 5: 123,897,162 (GRCm39) probably null Het
Ltbp2 T G 12: 84,855,220 (GRCm39) probably null Het
Mapk8ip3 G T 17: 25,133,562 (GRCm39) L83I probably damaging Het
Meltf C A 16: 31,711,440 (GRCm39) Y554* probably null Het
Mov10 A C 3: 104,706,735 (GRCm39) F725C probably damaging Het
Ms4a6d A C 19: 11,567,523 (GRCm39) L18R probably damaging Het
Naip2 T C 13: 100,298,515 (GRCm39) N507S probably benign Het
Nodal A G 10: 61,254,113 (GRCm39) Q12R probably benign Het
Npy6r T C 18: 44,409,575 (GRCm39) L332P probably damaging Het
Nrxn3 A G 12: 89,227,181 (GRCm39) K272R possibly damaging Het
Obox2 G T 7: 15,131,174 (GRCm39) K93N probably benign Het
Or10j27 C T 1: 172,958,418 (GRCm39) R122H possibly damaging Het
Or51a6 G T 7: 102,603,953 (GRCm39) P285Q probably damaging Het
Or5b112 A G 19: 13,319,178 (GRCm39) T19A possibly damaging Het
Or5w13 C T 2: 87,523,777 (GRCm39) V150M probably benign Het
Pcdh12 T A 18: 38,415,196 (GRCm39) D643V possibly damaging Het
Pcsk2 A G 2: 143,529,539 (GRCm39) D112G probably benign Het
Pms1 A G 1: 53,234,174 (GRCm39) S781P probably benign Het
Prtg A G 9: 72,752,178 (GRCm39) D188G probably benign Het
Psg21 A T 7: 18,388,695 (GRCm39) N132K probably benign Het
Psip1 A G 4: 83,400,769 (GRCm39) V25A probably damaging Het
Psmd13 T A 7: 140,478,107 (GRCm39) I319N probably damaging Het
Ptges2 A G 2: 32,290,104 (GRCm39) T173A probably benign Het
Ptprm G A 17: 67,054,155 (GRCm39) R975W probably damaging Het
Rdh1 A G 10: 127,601,214 (GRCm39) D254G probably benign Het
Rnf138 T G 18: 21,157,540 (GRCm39) N212K probably damaging Het
Serpine2 A G 1: 79,799,159 (GRCm39) S32P probably damaging Het
Serpini1 G T 3: 75,521,971 (GRCm39) W154L probably damaging Het
Sf3a1 C A 11: 4,129,177 (GRCm39) Q713K possibly damaging Het
Sgo2b A T 8: 64,379,867 (GRCm39) H988Q probably benign Het
Sin3a T C 9: 57,008,483 (GRCm39) F468L probably damaging Het
Slamf6 A T 1: 171,761,776 (GRCm39) I66F possibly damaging Het
Slc22a28 A T 19: 8,094,488 (GRCm39) C178S possibly damaging Het
Slc35a1 A C 4: 34,675,181 (GRCm39) V119G probably damaging Het
Slc39a12 A T 2: 14,439,030 (GRCm39) H428L probably damaging Het
Speer2 A G 16: 69,654,965 (GRCm39) S167P probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stam2 A T 2: 52,593,168 (GRCm39) Y341* probably null Het
Sv2b G A 7: 74,856,089 (GRCm39) A67V probably benign Het
Svep1 A G 4: 58,064,170 (GRCm39) probably null Het
Syt15 A T 14: 33,944,969 (GRCm39) Q172L probably benign Het
T G A 17: 8,660,634 (GRCm39) S415N probably benign Het
Tep1 A G 14: 51,061,641 (GRCm39) F2625S possibly damaging Het
Tex14 T C 11: 87,427,581 (GRCm39) V11A possibly damaging Het
Tiam2 A T 17: 3,465,401 (GRCm39) R377* probably null Het
Tirap A G 9: 35,102,312 (GRCm39) probably null Het
Tm4sf20 T C 1: 82,737,938 (GRCm39) T118A probably benign Het
Trank1 A T 9: 111,207,900 (GRCm39) Q1715L probably benign Het
Trpm2 C T 10: 77,783,823 (GRCm39) V217M probably damaging Het
Ubap1l G A 9: 65,279,078 (GRCm39) E126K possibly damaging Het
Urgcp G T 11: 5,666,526 (GRCm39) P604Q probably damaging Het
Vmn1r63 A G 7: 5,806,254 (GRCm39) V126A probably benign Het
Vmn2r90 T C 17: 17,933,525 (GRCm39) C362R probably damaging Het
Vmn2r96 A G 17: 18,804,138 (GRCm39) I271V probably damaging Het
Vps13a A T 19: 16,699,822 (GRCm39) I740K probably benign Het
Vps13c A G 9: 67,883,138 (GRCm39) T3562A probably damaging Het
Wdr91 T A 6: 34,869,297 (GRCm39) H409L probably damaging Het
Wnt7a T A 6: 91,342,938 (GRCm39) T315S possibly damaging Het
Zfp616 A G 11: 73,975,795 (GRCm39) H688R probably benign Het
Zfp763 A T 17: 33,237,413 (GRCm39) H577Q probably damaging Het
Zfp808 G A 13: 62,320,721 (GRCm39) S650N probably benign Het
Zfp977 A T 7: 42,229,409 (GRCm39) M372K probably benign Het
Other mutations in Spsb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03268:Spsb2 APN 6 124,786,450 (GRCm39) missense probably damaging 1.00
BB004:Spsb2 UTSW 6 124,786,336 (GRCm39) missense probably benign 0.07
BB014:Spsb2 UTSW 6 124,786,336 (GRCm39) missense probably benign 0.07
R0557:Spsb2 UTSW 6 124,787,355 (GRCm39) missense probably damaging 1.00
R1752:Spsb2 UTSW 6 124,787,292 (GRCm39) missense probably benign 0.01
R1994:Spsb2 UTSW 6 124,786,329 (GRCm39) splice site probably null
R2010:Spsb2 UTSW 6 124,787,339 (GRCm39) missense probably damaging 0.98
R3764:Spsb2 UTSW 6 124,786,518 (GRCm39) missense probably damaging 1.00
R4914:Spsb2 UTSW 6 124,786,711 (GRCm39) missense probably benign 0.00
R4918:Spsb2 UTSW 6 124,786,711 (GRCm39) missense probably benign 0.00
R5983:Spsb2 UTSW 6 124,786,711 (GRCm39) missense probably benign 0.00
R7107:Spsb2 UTSW 6 124,787,244 (GRCm39) missense probably benign
R7732:Spsb2 UTSW 6 124,786,656 (GRCm39) missense probably damaging 1.00
R7927:Spsb2 UTSW 6 124,786,336 (GRCm39) missense probably benign 0.07
R9047:Spsb2 UTSW 6 124,786,976 (GRCm39) missense probably benign
R9418:Spsb2 UTSW 6 124,786,282 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCTAGGGAAAGATGATGCGC -3'
(R):5'- TGCAGACCTCTCGAATAGCC -3'

Sequencing Primer
(F):5'- GATGATGCGCCTAACAGTCC -3'
(R):5'- GAATAGCCCCGTTTCCCCCG -3'
Posted On 2014-08-25