Incidental Mutation 'R2088:Sh2b2'
ID 231580
Institutional Source Beutler Lab
Gene Symbol Sh2b2
Ensembl Gene ENSMUSG00000005057
Gene Name SH2B adaptor protein 2
Synonyms Aps
MMRRC Submission 040093-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R2088 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 136247001-136275410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136260968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 83 (M83L)
Ref Sequence ENSEMBL: ENSMUSP00000142728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005188] [ENSMUST00000196245] [ENSMUST00000196397] [ENSMUST00000196447]
AlphaFold Q9JID9
Predicted Effect probably benign
Transcript: ENSMUST00000005188
AA Change: M83L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057
AA Change: M83L

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 probably benign
Transcript: ENSMUST00000196245
Predicted Effect probably benign
Transcript: ENSMUST00000196397
AA Change: M83L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057
AA Change: M83L

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 possibly damaging
Transcript: ENSMUST00000196447
AA Change: M83L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057
AA Change: M83L

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
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,333,265 (GRCm39) probably benign Het
Ano5 T A 7: 51,237,454 (GRCm39) N759K possibly damaging Het
Arhgef10 A G 8: 15,033,898 (GRCm39) T1072A possibly damaging Het
BC107364 T C 3: 96,341,745 (GRCm39) T93A unknown Het
Canx C T 11: 50,201,217 (GRCm39) E97K possibly damaging Het
Casp8ap2 T C 4: 32,631,126 (GRCm39) L62P probably damaging Het
Cbfa2t3 C T 8: 123,364,725 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,811 (GRCm39) probably null Het
Cmya5 A T 13: 93,229,320 (GRCm39) S1923T probably damaging Het
Cntnap1 T A 11: 101,073,373 (GRCm39) I618N probably damaging Het
Cox17 C G 16: 38,167,542 (GRCm39) P27R probably damaging Het
Ctnna3 A G 10: 64,708,986 (GRCm39) E675G probably damaging Het
Cul9 A G 17: 46,837,575 (GRCm39) L990P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eif2d T C 1: 131,092,464 (GRCm39) V374A probably damaging Het
Fhdc1 T C 3: 84,382,033 (GRCm39) probably benign Het
Fryl T A 5: 73,222,804 (GRCm39) I1926F probably benign Het
Galnt4 A G 10: 98,945,046 (GRCm39) D257G probably damaging Het
Gatm A G 2: 122,428,629 (GRCm39) V344A probably benign Het
Gli1 T G 10: 127,167,369 (GRCm39) Y628S probably damaging Het
Gsdmc3 A C 15: 63,732,063 (GRCm39) probably null Het
Hap1 T C 11: 100,246,828 (GRCm39) T26A probably benign Het
Helz2 C T 2: 180,876,895 (GRCm39) G1200S probably benign Het
Insyn1 T C 9: 58,406,288 (GRCm39) F66S probably damaging Het
Iqgap2 C T 13: 96,028,171 (GRCm39) probably null Het
Itga3 T A 11: 94,943,320 (GRCm39) I895F probably benign Het
Klhl33 A T 14: 51,130,230 (GRCm39) C421* probably null Het
Klra2 T C 6: 131,219,789 (GRCm39) T131A probably damaging Het
Krt14 T C 11: 100,094,949 (GRCm39) E426G possibly damaging Het
Limd2 A G 11: 106,049,568 (GRCm39) F107L probably damaging Het
Lipo4 A T 19: 33,477,469 (GRCm39) N318K possibly damaging Het
Mab21l2 T G 3: 86,454,316 (GRCm39) D228A probably damaging Het
Moxd2 G A 6: 40,861,901 (GRCm39) H224Y probably damaging Het
Mpp4 T C 1: 59,162,624 (GRCm39) Y521C possibly damaging Het
Msto1 C T 3: 88,818,297 (GRCm39) A317T probably damaging Het
Mtmr4 T C 11: 87,501,793 (GRCm39) S559P probably damaging Het
Muc4 T A 16: 32,576,783 (GRCm39) H2094Q unknown Het
Ndufa11 C A 17: 57,024,922 (GRCm39) T28K probably damaging Het
Or2b4 A G 17: 38,116,686 (GRCm39) T217A probably benign Het
Or4f4b G T 2: 111,314,623 (GRCm39) A283S probably damaging Het
Orai2 C A 5: 136,179,610 (GRCm39) R155L probably damaging Het
Pde4c A G 8: 71,202,005 (GRCm39) D582G possibly damaging Het
Pde4dip T C 3: 97,661,749 (GRCm39) E609G probably null Het
Prune2 A G 19: 17,097,109 (GRCm39) D871G possibly damaging Het
Rbpms2 T A 9: 65,538,121 (GRCm39) L4Q probably damaging Het
Rhbg T C 3: 88,154,765 (GRCm39) Y213C probably damaging Het
Rplp0 T A 5: 115,700,562 (GRCm39) N243K possibly damaging Het
Rtp4 A T 16: 23,431,963 (GRCm39) H165L possibly damaging Het
Ryr2 C A 13: 11,677,115 (GRCm39) M3245I probably benign Het
Simc1 T C 13: 54,689,347 (GRCm39) I284T probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
St6galnac1 A G 11: 116,659,933 (GRCm39) S127P probably benign Het
Tatdn3 A G 1: 190,785,073 (GRCm39) I192T possibly damaging Het
Tmem25 C A 9: 44,707,383 (GRCm39) V239F possibly damaging Het
Tprkb A C 6: 85,909,922 (GRCm39) probably benign Het
Trappc10 A G 10: 78,032,168 (GRCm39) V1040A probably benign Het
Txnrd1 G A 10: 82,719,744 (GRCm39) probably benign Het
Uhrf1 A T 17: 56,625,089 (GRCm39) K544M probably damaging Het
Unc80 T A 1: 66,629,386 (GRCm39) H1294Q possibly damaging Het
Uspl1 T A 5: 149,146,560 (GRCm39) I437K probably damaging Het
Vmn1r232 A T 17: 21,133,999 (GRCm39) N200K possibly damaging Het
Vmn2r19 A T 6: 123,312,795 (GRCm39) I622F probably damaging Het
Znfx1 A G 2: 166,897,730 (GRCm39) F398S probably damaging Het
Other mutations in Sh2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Sh2b2 APN 5 136,253,273 (GRCm39) missense probably damaging 1.00
IGL01456:Sh2b2 APN 5 136,253,321 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- ATTTGTCACGAGGCTCCGAC -3'
(R):5'- CATGGGACCAAAGCCATGAATG -3'

Sequencing Primer
(F):5'- CCACCATCGGGCTCTGG -3'
(R):5'- GCAATTCTGCGAGCTGC -3'
Posted On 2014-09-18