Incidental Mutation 'R3764:Spsb2'
ID 271811
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 040741-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R3764 (G1)
Quality Score 152
Status Validated
Chromosome 6
Chromosomal Location 124785640-124787582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124786518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 84 (Y84H)
Ref Sequence ENSEMBL: ENSMUSP00000118347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000130160] [ENSMUST00000143040] [ENSMUST00000149610] [ENSMUST00000172132]
AlphaFold O88838
Predicted Effect probably benign
Transcript: ENSMUST00000047760
AA Change: Y84H

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
AA Change: Y84H

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: Y84H

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
AA Change: Y84H

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: Y84H

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
AA Change: Y84H

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130160
AA Change: Y84H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451
AA Change: Y84H

DomainStartEndE-ValueType
SPRY 86 208 1.1e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139716
Predicted Effect probably damaging
Transcript: ENSMUST00000143040
AA Change: Y84H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451
AA Change: Y84H

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204602
Predicted Effect probably benign
Transcript: ENSMUST00000149610
SMART Domains Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

DomainStartEndE-ValueType
Pfam:TIM 1 163 1.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172132
SMART Domains Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456

DomainStartEndE-ValueType
Pfam:TIM 57 295 9.2e-86 PFAM
Meta Mutation Damage Score 0.2497 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.3%
Validation Efficiency 100% (29/29)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn G A 17: 14,066,851 (GRCm39) A648T probably benign Het
Cadm3 C T 1: 173,174,064 (GRCm39) V50I probably damaging Het
Catspere2 A T 1: 177,940,698 (GRCm39) T687S unknown Het
Cubn T A 2: 13,336,396 (GRCm39) I2477F possibly damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dhx15 G A 5: 52,324,074 (GRCm39) P406L probably benign Het
Eif4e3 C T 6: 99,617,586 (GRCm39) R95Q probably damaging Het
Fmo5 T C 3: 97,553,033 (GRCm39) I327T probably damaging Het
Gckr T A 5: 31,483,842 (GRCm39) probably benign Het
Ghrhr T C 6: 55,357,756 (GRCm39) V129A probably damaging Het
Gsdma A T 11: 98,561,593 (GRCm39) N191I probably damaging Het
Hadha T C 5: 30,349,207 (GRCm39) K135E probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Lrp2 T C 2: 69,326,680 (GRCm39) E1797G probably damaging Het
Ly9 T C 1: 171,421,712 (GRCm39) Y513C possibly damaging Het
Nphp4 C T 4: 152,622,474 (GRCm39) probably benign Het
Pate8 A T 9: 36,493,114 (GRCm39) probably null Het
Pcm1 A G 8: 41,783,919 (GRCm39) E2005G probably damaging Het
Tlcd3b T C 7: 126,426,685 (GRCm39) I36T probably damaging Het
Try10 C T 6: 41,333,458 (GRCm39) R68C probably benign Het
Tut7 T A 13: 59,948,194 (GRCm39) E307V probably damaging Het
Ube3c ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 29,842,584 (GRCm39) probably benign Het
Vps50 A T 6: 3,588,063 (GRCm39) I679F probably damaging Het
Wdr81 G A 11: 75,343,629 (GRCm39) T546I probably damaging Het
Zfp40 T A 17: 23,396,101 (GRCm39) H94L possibly damaging 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
R1993:Spsb2 UTSW 6 124,786,329 (GRCm39) splice site probably null
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
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'- GAAGTTCTTCAGCGGCTCTC -3'
(R):5'- TGATGATACAATTTTCCCCGCC -3'

Sequencing Primer
(F):5'- GCAGGCTCTGTACTCGGACTTC -3'
(R):5'- GATACAATTTTCCCCGCCCAATATC -3'
Posted On 2015-03-25