Incidental Mutation 'IGL01456:Sh2b2'
ID 84776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2b2
Ensembl Gene ENSMUSG00000005057
Gene Name SH2B adaptor protein 2
Synonyms Aps
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # IGL01456
Quality Score
Status
Chromosome 5
Chromosomal Location 136247001-136275410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136253321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 311 (C311Y)
Ref Sequence ENSEMBL: ENSMUSP00000142728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005188] [ENSMUST00000196397] [ENSMUST00000196447]
AlphaFold Q9JID9
Predicted Effect possibly damaging
Transcript: ENSMUST00000005188
AA Change: C311Y

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057
AA Change: C311Y

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
Pfam:Phe_ZIP 17 73 9.3e-22 PFAM
Blast:PH 95 168 2e-21 BLAST
low complexity region 169 180 N/A INTRINSIC
PH 187 301 4.97e-9 SMART
low complexity region 340 350 N/A INTRINSIC
low complexity region 388 404 N/A INTRINSIC
SH2 407 492 1.38e-21 SMART
low complexity region 509 525 N/A INTRINSIC
low complexity region 548 576 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000196397
AA Change: C311Y

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057
AA Change: C311Y

DomainStartEndE-ValueType
Pfam:Phe_ZIP 16 74 1.5e-30 PFAM
Blast:PH 95 168 2e-21 BLAST
low complexity region 169 180 N/A INTRINSIC
PH 187 301 4.97e-9 SMART
low complexity region 340 350 N/A INTRINSIC
low complexity region 388 404 N/A INTRINSIC
SH2 407 492 1.38e-21 SMART
low complexity region 509 525 N/A INTRINSIC
low complexity region 548 576 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196447
AA Change: C311Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057
AA Change: C311Y

DomainStartEndE-ValueType
Pfam:Phe_ZIP 16 74 9.1e-28 PFAM
Blast:PH 95 168 9e-22 BLAST
low complexity region 169 180 N/A INTRINSIC
PH 187 301 2.2e-11 SMART
low complexity region 340 350 N/A INTRINSIC
low complexity region 406 417 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197324
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]
PHENOTYPE: Inactivation of this gene results in increased insulin sensitivity accompanied by hypoinsulinemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,455,083 (GRCm39) D633E probably benign Het
Akap13 T C 7: 75,252,595 (GRCm39) C242R probably damaging Het
Ap5z1 T C 5: 142,453,791 (GRCm39) L175P probably damaging Het
Arid1b A G 17: 5,341,510 (GRCm39) E938G probably damaging Het
Arid4a A G 12: 71,114,036 (GRCm39) N208D probably benign Het
Atr A G 9: 95,832,618 (GRCm39) H2556R possibly damaging Het
Cald1 A T 6: 34,741,931 (GRCm39) D438V probably damaging Het
Dcbld2 C T 16: 58,229,236 (GRCm39) P40S possibly damaging Het
Dock8 G A 19: 25,096,863 (GRCm39) M590I possibly damaging Het
Gm1818 A T 12: 48,602,583 (GRCm39) noncoding transcript Het
Hace1 A G 10: 45,586,094 (GRCm39) probably benign Het
Igkv10-96 A G 6: 68,609,086 (GRCm39) Y70H probably benign Het
Kdm2a G T 19: 4,401,783 (GRCm39) H200Q probably damaging Het
Ldha A G 7: 46,499,602 (GRCm39) D111G possibly damaging Het
Map7 A G 10: 20,149,550 (GRCm39) E567G unknown Het
Nbeal1 G T 1: 60,269,787 (GRCm39) L375F probably damaging Het
Nectin3 T C 16: 46,279,216 (GRCm39) E254G probably benign Het
Nlrp4b A T 7: 10,448,150 (GRCm39) I118F probably benign Het
Pkhd1 A T 1: 20,269,683 (GRCm39) V3287D probably damaging Het
Ptpre T G 7: 135,271,531 (GRCm39) V375G probably damaging Het
Rabgap1 A G 2: 37,431,187 (GRCm39) E746G probably damaging Het
Skor1 G A 9: 63,052,772 (GRCm39) T399I probably damaging Het
Sptbn2 A G 19: 4,796,777 (GRCm39) T1792A probably damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tln1 G A 4: 43,543,432 (GRCm39) probably benign Het
Tmc7 C A 7: 118,146,533 (GRCm39) probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tpte A G 8: 22,835,068 (GRCm39) probably benign Het
Unc13a G A 8: 72,097,211 (GRCm39) R1228W probably damaging Het
Vipr1 C T 9: 121,494,244 (GRCm39) T275M probably damaging Het
Vmn1r177 G T 7: 23,565,753 (GRCm39) P41Q possibly damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Other mutations in Sh2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Sh2b2 APN 5 136,253,273 (GRCm39) missense probably damaging 1.00
IGL01612:Sh2b2 APN 5 136,260,656 (GRCm39) missense probably benign 0.02
IGL02798:Sh2b2 APN 5 136,250,817 (GRCm39) missense probably damaging 1.00
BB002:Sh2b2 UTSW 5 136,253,115 (GRCm39) missense probably benign 0.04
BB012:Sh2b2 UTSW 5 136,253,115 (GRCm39) missense probably benign 0.04
R0492:Sh2b2 UTSW 5 136,261,117 (GRCm39) missense probably damaging 1.00
R0539:Sh2b2 UTSW 5 136,254,155 (GRCm39) splice site probably benign
R0707:Sh2b2 UTSW 5 136,261,117 (GRCm39) missense probably damaging 1.00
R1569:Sh2b2 UTSW 5 136,260,589 (GRCm39) missense possibly damaging 0.89
R1777:Sh2b2 UTSW 5 136,256,276 (GRCm39) missense probably damaging 1.00
R2088:Sh2b2 UTSW 5 136,260,968 (GRCm39) missense possibly damaging 0.87
R3702:Sh2b2 UTSW 5 136,253,087 (GRCm39) missense probably damaging 0.99
R4223:Sh2b2 UTSW 5 136,247,907 (GRCm39) missense possibly damaging 0.91
R4597:Sh2b2 UTSW 5 136,260,616 (GRCm39) missense probably damaging 0.99
R4683:Sh2b2 UTSW 5 136,260,574 (GRCm39) missense probably damaging 1.00
R4766:Sh2b2 UTSW 5 136,260,811 (GRCm39) missense probably damaging 0.99
R5486:Sh2b2 UTSW 5 136,260,944 (GRCm39) missense probably benign 0.10
R6060:Sh2b2 UTSW 5 136,261,209 (GRCm39) missense possibly damaging 0.72
R6322:Sh2b2 UTSW 5 136,253,042 (GRCm39) missense probably damaging 0.99
R7020:Sh2b2 UTSW 5 136,253,153 (GRCm39) missense possibly damaging 0.69
R7034:Sh2b2 UTSW 5 136,247,739 (GRCm39) missense probably benign 0.18
R7036:Sh2b2 UTSW 5 136,247,739 (GRCm39) missense probably benign 0.18
R7615:Sh2b2 UTSW 5 136,248,511 (GRCm39) missense probably damaging 1.00
R7715:Sh2b2 UTSW 5 136,247,889 (GRCm39) missense probably benign 0.09
R7925:Sh2b2 UTSW 5 136,253,115 (GRCm39) missense probably benign 0.04
R8244:Sh2b2 UTSW 5 136,256,291 (GRCm39) nonsense probably null
R8291:Sh2b2 UTSW 5 136,261,209 (GRCm39) missense possibly damaging 0.72
R8786:Sh2b2 UTSW 5 136,260,658 (GRCm39) missense probably benign 0.29
R9293:Sh2b2 UTSW 5 136,260,893 (GRCm39) missense possibly damaging 0.90
R9364:Sh2b2 UTSW 5 136,253,006 (GRCm39) missense probably benign 0.03
R9554:Sh2b2 UTSW 5 136,253,006 (GRCm39) missense probably benign 0.03
Posted On 2013-11-11