Incidental Mutation 'R7020:Sh2b2'
ID 545564
Institutional Source Beutler Lab
Gene Symbol Sh2b2
Ensembl Gene ENSMUSG00000005057
Gene Name SH2B adaptor protein 2
Synonyms Aps
MMRRC Submission 045121-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R7020 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 136247001-136275410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136253153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 340 (T340A)
Ref Sequence ENSEMBL: ENSMUSP00000142728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005188] [ENSMUST00000196397] [ENSMUST00000196447]
AlphaFold Q9JID9
Predicted Effect probably benign
Transcript: ENSMUST00000005188
AA Change: T340A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057
AA Change: T340A

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: ENSMUST00000196397
AA Change: T340A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057
AA Change: T340A

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: T340A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057
AA Change: T340A

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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (52/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,634,975 (GRCm39) G188R probably damaging Het
Abhd3 T C 18: 10,645,127 (GRCm39) Y384C probably damaging Het
Cd209b T A 8: 3,968,783 (GRCm39) E282V probably damaging Het
Cep350 A C 1: 155,804,077 (GRCm39) L1002W probably damaging Het
Clcn1 T C 6: 42,275,754 (GRCm39) V292A probably damaging Het
Clcn7 T C 17: 25,365,325 (GRCm39) I107T possibly damaging Het
Cntrob A G 11: 69,193,918 (GRCm39) probably null Het
Crb1 A T 1: 139,159,341 (GRCm39) S1294T possibly damaging Het
Cst13 T G 2: 148,665,129 (GRCm39) Y41* probably null Het
Gp1ba A G 11: 70,531,139 (GRCm39) probably benign Het
Gucy2e A T 11: 69,123,619 (GRCm39) L427I probably benign Het
Gucy2g A G 19: 55,221,482 (GRCm39) S340P probably damaging Het
Herc1 A G 9: 66,393,360 (GRCm39) T4080A probably benign Het
Iglon5 A T 7: 43,126,319 (GRCm39) C195S probably damaging Het
Itgae A G 11: 73,002,195 (GRCm39) T100A probably damaging Het
Jarid2 C T 13: 45,038,300 (GRCm39) S205L probably damaging Het
Macrod2 A T 2: 142,231,795 (GRCm39) *424C probably null Het
Map2k6 A T 11: 110,397,540 (GRCm39) probably benign Het
Muc4 A T 16: 32,570,628 (GRCm39) K563* probably null Het
Myh7b T C 2: 155,473,671 (GRCm39) I1568T possibly damaging Het
Myo15b G A 11: 115,757,493 (GRCm39) W1114* probably null Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Notch1 T C 2: 26,371,586 (GRCm39) T288A possibly damaging Het
Npc1 C T 18: 12,331,594 (GRCm39) G859R probably damaging Het
Olfm2 T A 9: 20,579,864 (GRCm39) R326W probably damaging Het
Or2a7 T C 6: 43,151,096 (GRCm39) Y59H possibly damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5g23 A G 2: 85,438,976 (GRCm39) S93P probably benign Het
Ovol1 G A 19: 5,610,261 (GRCm39) P23L probably damaging Het
Pappa2 C A 1: 158,675,579 (GRCm39) V1056F probably damaging Het
Pik3ca T C 3: 32,490,428 (GRCm39) L25S probably damaging Het
Pla2r1 T C 2: 60,277,743 (GRCm39) H860R possibly damaging Het
Pms1 A T 1: 53,228,541 (GRCm39) H902Q probably damaging Het
Ptgs1 T G 2: 36,141,041 (GRCm39) L496R probably damaging Het
Ralgapa2 A T 2: 146,188,638 (GRCm39) Y1381* probably null Het
Rtl1 T C 12: 109,558,749 (GRCm39) Q1030R possibly damaging Het
Ryr3 T A 2: 112,583,423 (GRCm39) Y2816F probably benign Het
Slc30a5 T A 13: 100,961,421 (GRCm39) probably null Het
Spta1 T C 1: 174,036,918 (GRCm39) L1143P probably damaging Het
St8sia5 T C 18: 77,333,876 (GRCm39) I178T probably damaging Het
Tap2 A G 17: 34,433,388 (GRCm39) N517S possibly damaging Het
Tcp11 A G 17: 28,290,679 (GRCm39) Y227H possibly damaging Het
Usp34 A G 11: 23,343,954 (GRCm39) D1411G probably benign Het
Vmn2r105 A G 17: 20,429,336 (GRCm39) L580P probably damaging Het
Wdr19 A G 5: 65,413,657 (GRCm39) E1200G probably damaging Het
Xirp2 T C 2: 67,355,913 (GRCm39) V3558A probably benign Het
Xpo7 T C 14: 70,903,463 (GRCm39) N1082S probably benign Het
Zbtb49 A T 5: 38,370,711 (GRCm39) L390* probably null Het
Zfp639 C A 3: 32,574,261 (GRCm39) D295E 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
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
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'- ACATGGGTCCCTGTAGAAGG -3'
(R):5'- ATGCTGCGTCTTCTCCACAG -3'

Sequencing Primer
(F):5'- CCTGTAGAAGGGGGTGGG -3'
(R):5'- ACAGGACTGTCTTGTGCAC -3'
Posted On 2019-05-13