Incidental Mutation 'R7732:Spsb2'
ID 595902
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 045788-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R7732 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 124785640-124787582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124786656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 130 (S130P)
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: S130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
AA Change: S130P

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: S130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
AA Change: S130P

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: S130P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
AA Change: S130P

DomainStartEndE-ValueType
SPRY 86 220 9.85e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130160
AA Change: S130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451
AA Change: S130P

DomainStartEndE-ValueType
SPRY 86 208 1.1e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143040
AA Change: S130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451
AA Change: S130P

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: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,075,451 (GRCm39) S121T possibly damaging Het
Alpk1 T C 3: 127,478,041 (GRCm39) M69V Het
Ap3m2 G T 8: 23,287,105 (GRCm39) D192E probably benign Het
Arel1 A G 12: 84,974,663 (GRCm39) V493A probably benign Het
Arhgap27 T C 11: 103,230,869 (GRCm39) H140R probably benign Het
Bcat2 C T 7: 45,234,617 (GRCm39) T166M possibly damaging Het
Brd4 C A 17: 32,440,386 (GRCm39) A318S unknown Het
Cabp4 T A 19: 4,185,994 (GRCm39) T270S probably benign Het
Cd22 G A 7: 30,569,482 (GRCm39) R545C probably damaging Het
Cdc23 C A 18: 34,769,755 (GRCm39) probably null Het
Chst4 G A 8: 110,756,514 (GRCm39) Q450* probably null Het
Ctsc G A 7: 87,946,367 (GRCm39) R132Q probably damaging Het
Cyp2b19 A G 7: 26,470,769 (GRCm39) D470G possibly damaging Het
Dcc C T 18: 71,579,506 (GRCm39) G689D probably benign Het
Disc1 G T 8: 125,977,714 (GRCm39) G779* probably null Het
Dock1 T G 7: 134,346,699 (GRCm39) D210E probably benign Het
Dynlt1a A G 17: 6,365,220 (GRCm39) V14A probably benign Het
Dynlt2a3 A G 17: 15,187,947 (GRCm39) V109A probably benign Het
Epha10 A G 4: 124,809,092 (GRCm39) D779G Het
Eprs1 A G 1: 185,105,136 (GRCm39) H137R probably benign Het
Eps15l1 A C 8: 73,134,820 (GRCm39) L447R probably damaging Het
Esyt1 A G 10: 128,357,694 (GRCm39) probably null Het
Fam221a A G 6: 49,349,563 (GRCm39) K43E probably benign Het
Fanci A G 7: 79,062,400 (GRCm39) S309G possibly damaging Het
Fbxo48 T A 11: 16,903,601 (GRCm39) W76R probably damaging Het
Fgd4 A G 16: 16,302,459 (GRCm39) V32A probably benign Het
Foxe1 A T 4: 46,345,287 (GRCm39) D365V unknown Het
Gabrd C T 4: 155,470,075 (GRCm39) R378H probably benign Het
Greb1 A G 12: 16,723,864 (GRCm39) S1862P probably damaging Het
H2al2b T C Y: 2,720,436 (GRCm39) H80R possibly damaging Het
Hectd4 T C 5: 121,474,692 (GRCm39) V2771A probably benign Het
Hoxa11 A T 6: 52,220,415 (GRCm39) F289L probably damaging Het
Hsp90aa1 A G 12: 110,659,852 (GRCm39) V412A probably damaging Het
Igsf11 A G 16: 38,829,160 (GRCm39) Q77R probably damaging Het
Lrig1 C A 6: 94,603,358 (GRCm39) M263I probably benign Het
Ms4a14 C T 19: 11,279,047 (GRCm39) M1170I probably benign Het
Ndufs7 G A 10: 80,089,618 (GRCm39) probably null Het
Nectin4 A T 1: 171,214,246 (GRCm39) E467V probably benign Het
Or8d1b A G 9: 38,887,560 (GRCm39) E196G probably damaging Het
Otogl G A 10: 107,642,525 (GRCm39) H1302Y probably benign Het
Pigg A G 5: 108,466,841 (GRCm39) S241G probably benign Het
Pip4p1 C T 14: 51,168,090 (GRCm39) G48D possibly damaging Het
Pom121l12 T A 11: 14,549,843 (GRCm39) V183D probably damaging Het
Prickle2 T A 6: 92,388,205 (GRCm39) E455V probably damaging Het
Ptpn4 A C 1: 119,620,532 (GRCm39) V488G probably benign Het
Ranbp10 A G 8: 106,499,723 (GRCm39) I502T probably benign Het
Raph1 T A 1: 60,572,447 (GRCm39) Q40L possibly damaging Het
Rgs22 A T 15: 36,026,127 (GRCm39) C1056S probably damaging Het
Serpinb6b G A 13: 33,152,590 (GRCm39) S33N probably damaging Het
Serpinb6d A G 13: 33,853,082 (GRCm39) N158S probably benign Het
Serping1 A T 2: 84,600,448 (GRCm39) V298D probably damaging Het
Sgsm1 T A 5: 113,414,196 (GRCm39) H637L probably benign Het
Sh3rf2 G T 18: 42,234,753 (GRCm39) V179L probably damaging Het
Slc1a3 T C 15: 8,680,472 (GRCm39) T129A probably benign Het
Slit1 T A 19: 41,592,847 (GRCm39) Y1202F probably benign Het
Sulf1 A G 1: 12,913,013 (GRCm39) D749G probably benign Het
Taok3 A G 5: 117,331,813 (GRCm39) E10G possibly damaging Het
Tbl3 G T 17: 24,923,136 (GRCm39) A368D probably benign Het
Tdh T A 14: 63,733,507 (GRCm39) H127L probably damaging Het
Tmem205 C A 9: 21,838,703 (GRCm39) probably null Het
Tmem30a A C 9: 79,687,826 (GRCm39) F114L possibly damaging Het
Tmprss15 T C 16: 78,800,308 (GRCm39) K607E probably benign Het
Tnxb A T 17: 34,913,254 (GRCm39) D1756V probably damaging Het
Trhde A G 10: 114,623,969 (GRCm39) F312L probably benign Het
Ttn G A 2: 76,656,793 (GRCm39) P12494L probably null Het
Vmn2r61 A G 7: 41,916,097 (GRCm39) R237G probably benign Het
Vps13c A T 9: 67,847,798 (GRCm39) N2187Y probably damaging Het
Wdr64 A G 1: 175,617,495 (GRCm39) T692A probably benign Het
Whamm A G 7: 81,221,172 (GRCm39) N35D probably damaging Het
Wnt2 T C 6: 18,023,335 (GRCm39) S105G probably damaging Het
Zfp108 T A 7: 23,960,952 (GRCm39) H514Q probably benign Het
Zftraf1 C T 15: 76,532,386 (GRCm39) D241N probably benign Het
Znfx1 T C 2: 166,884,589 (GRCm39) K888E possibly damaging Het
Zzz3 T C 3: 152,154,479 (GRCm39) Y577H 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
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'- TGGAACCCCAAGGATTGCTC -3'
(R):5'- CTTACAGAGGGATAGAGGGTCCTC -3'

Sequencing Primer
(F):5'- TCAAGGAAGGGGGTCTGTGC -3'
(R):5'- TTCAGTCCACGGAAGGCTG -3'
Posted On 2019-11-12