Incidental Mutation 'R9418:Spsb2'
ID 712166
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R9418 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 124785640-124787582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 124786282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 5 (A5D)
Ref Sequence ENSEMBL: ENSMUSP00000041585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000130160] [ENSMUST00000143040] [ENSMUST00000149610] [ENSMUST00000172132]
AlphaFold O88838
Predicted Effect probably damaging
Transcript: ENSMUST00000047760
AA Change: A5D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
AA Change: A5D

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 damaging
Transcript: ENSMUST00000052727
AA Change: A5D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
AA Change: A5D

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 damaging
Transcript: ENSMUST00000112473
AA Change: A5D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
AA Change: A5D

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130160
AA Change: A5D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451
AA Change: A5D

DomainStartEndE-ValueType
SPRY 86 208 1.1e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143040
AA Change: A5D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451
AA Change: A5D

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,645,317 (GRCm39) G401R probably damaging Het
Adgrf5 G A 17: 43,737,864 (GRCm39) V233I probably benign Het
Ankrd34b A G 13: 92,575,232 (GRCm39) K155E probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc141 A T 2: 76,871,766 (GRCm39) H839Q probably benign Het
Ccdc18 T C 5: 108,303,669 (GRCm39) L251P probably damaging Het
Ciita G T 16: 10,319,765 (GRCm39) E63* probably null Het
Cmya5 T C 13: 93,226,209 (GRCm39) T2960A probably benign Het
Cyp2b13 A T 7: 25,761,110 (GRCm39) I56F probably benign Het
Dcaf4 A T 12: 83,586,606 (GRCm39) Y422F probably benign Het
Dhrs7b A T 11: 60,746,594 (GRCm39) I228F probably damaging Het
Drosha T C 15: 12,885,167 (GRCm39) S853P probably benign Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Fap G A 2: 62,385,181 (GRCm39) Q65* probably null Het
Fbxo47 T A 11: 97,747,067 (GRCm39) N333I possibly damaging Het
Fem1al C T 11: 29,774,632 (GRCm39) C275Y probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gpr171 T C 3: 59,004,999 (GRCm39) T259A possibly damaging Het
Hectd2 T A 19: 36,589,574 (GRCm39) S595T probably benign Het
Hexa A G 9: 59,464,592 (GRCm39) I161V probably benign Het
Hira A G 16: 18,770,025 (GRCm39) T777A probably benign Het
Il2ra T C 2: 11,689,203 (GRCm39) F244S possibly damaging Het
Kcne3 A G 7: 99,833,385 (GRCm39) M1V probably null Het
Kcnj1 G A 9: 32,308,203 (GRCm39) C209Y probably damaging Het
Kcnj2 A T 11: 110,963,357 (GRCm39) I250F probably damaging Het
Krt26 C T 11: 99,228,741 (GRCm39) probably benign Het
Leng9 T C 7: 4,151,354 (GRCm39) T441A probably benign Het
Lingo2 T C 4: 35,709,035 (GRCm39) H315R probably benign Het
Lrrc7 A T 3: 157,908,023 (GRCm39) S266T possibly damaging Het
Mab21l4 A C 1: 93,087,710 (GRCm39) L48V probably benign Het
Mib1 A G 18: 10,812,064 (GRCm39) D987G probably damaging Het
Mrc1 T C 2: 14,234,358 (GRCm39) V12A probably benign Het
Mta1 G T 12: 113,094,987 (GRCm39) R415L probably damaging Het
Mug2 T A 6: 122,017,700 (GRCm39) V479E probably benign Het
Mylk3 C A 8: 86,091,444 (GRCm39) M120I possibly damaging Het
Or13c7c C T 4: 43,835,879 (GRCm39) V204M probably benign Het
Or2v2 G T 11: 49,004,484 (GRCm39) P23Q probably benign Het
Otog A T 7: 45,938,024 (GRCm39) Q1911L probably benign Het
Pcdh20 C T 14: 88,705,455 (GRCm39) C615Y probably benign Het
Pde1b A G 15: 103,433,464 (GRCm39) H294R probably damaging Het
Phldb3 A T 7: 24,328,354 (GRCm39) I633F probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pip5k1b A G 19: 24,327,581 (GRCm39) V425A probably benign Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Rab23 A T 1: 33,777,424 (GRCm39) E179D probably benign Het
Slc12a6 C A 2: 112,174,555 (GRCm39) L522I Het
Slc22a19 A T 19: 7,660,210 (GRCm39) M400K possibly damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Tgfb1 A G 7: 25,391,952 (GRCm39) E169G probably damaging Het
Tm4sf5 T A 11: 70,401,134 (GRCm39) C117S probably damaging Het
Tmcc3 T C 10: 94,415,087 (GRCm39) L294P possibly damaging Het
Ubc T C 5: 125,464,466 (GRCm39) Y287C probably damaging Het
Uroc1 G T 6: 90,313,880 (GRCm39) V56F probably benign Het
Ush1c A T 7: 45,872,292 (GRCm39) F237I probably damaging Het
Xxylt1 A T 16: 30,826,624 (GRCm39) Y230* probably null Het
Zfp467 A T 6: 48,415,990 (GRCm39) C221S probably 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
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
Predicted Primers PCR Primer
(F):5'- TTGGCATACACCGGTGAACG -3'
(R):5'- TGCAGACCTCTCGAATAGCC -3'

Sequencing Primer
(F):5'- TGAACGGATGGGAGTCCTAG -3'
(R):5'- ACTCCATCAGTGCTCTGGG -3'
Posted On 2022-05-16