Incidental Mutation 'IGL01612:Sh2b2'
ID |
92174 |
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)
|
Stock # |
IGL01612
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
136247001-136275410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 136260656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 187
(I187L)
|
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: I187L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000005188 Gene: ENSMUSG00000005057 AA Change: I187L
Domain | Start | End | E-Value | Type |
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: I187L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142398 Gene: ENSMUSG00000005057 AA Change: I187L
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000196447
AA Change: I187L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000142728 Gene: ENSMUSG00000005057 AA Change: I187L
Domain | Start | End | E-Value | Type |
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 |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,381,988 (GRCm39) |
T1326A |
possibly damaging |
Het |
Afg3l1 |
C |
T |
8: 124,221,592 (GRCm39) |
R484C |
probably benign |
Het |
Atg2a |
C |
A |
19: 6,302,514 (GRCm39) |
Q946K |
probably benign |
Het |
Cdh20 |
T |
C |
1: 104,921,895 (GRCm39) |
Y731H |
probably benign |
Het |
Cdk15 |
A |
G |
1: 59,328,932 (GRCm39) |
D282G |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 31,005,164 (GRCm39) |
S1073P |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,355,889 (GRCm39) |
|
probably benign |
Het |
Evi2a |
T |
A |
11: 79,417,978 (GRCm39) |
R211W |
probably damaging |
Het |
Fmo1 |
T |
A |
1: 162,661,168 (GRCm39) |
I372F |
probably benign |
Het |
Glyctk |
T |
C |
9: 106,032,471 (GRCm39) |
D514G |
probably damaging |
Het |
Gmnc |
G |
A |
16: 26,779,069 (GRCm39) |
Q313* |
probably null |
Het |
Grik1 |
T |
C |
16: 87,743,623 (GRCm39) |
T520A |
probably damaging |
Het |
Gtsf2 |
A |
T |
15: 103,353,340 (GRCm39) |
C9S |
probably damaging |
Het |
Ift80 |
T |
G |
3: 68,870,996 (GRCm39) |
N200T |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,742,047 (GRCm39) |
S1771P |
probably benign |
Het |
Lrba |
A |
G |
3: 86,683,484 (GRCm39) |
T2769A |
possibly damaging |
Het |
Lrfn2 |
G |
T |
17: 49,377,425 (GRCm39) |
V169L |
possibly damaging |
Het |
Mei1 |
G |
A |
15: 81,973,753 (GRCm39) |
R80H |
probably damaging |
Het |
Nbeal2 |
A |
T |
9: 110,473,746 (GRCm39) |
V31E |
probably damaging |
Het |
Ncapd2 |
G |
T |
6: 125,154,835 (GRCm39) |
P546T |
probably benign |
Het |
Or52l1 |
A |
G |
7: 104,829,929 (GRCm39) |
V212A |
probably damaging |
Het |
Pan3 |
T |
C |
5: 147,390,052 (GRCm39) |
|
probably benign |
Het |
Rab3b |
T |
A |
4: 108,781,223 (GRCm39) |
|
probably null |
Het |
Rabl2 |
T |
C |
15: 89,467,615 (GRCm39) |
K119E |
probably benign |
Het |
Reln |
A |
G |
5: 22,101,928 (GRCm39) |
V3334A |
probably damaging |
Het |
Rfx1 |
A |
G |
8: 84,819,601 (GRCm39) |
|
probably null |
Het |
Rhod |
T |
C |
19: 4,476,247 (GRCm39) |
Y168C |
probably damaging |
Het |
Sag |
T |
C |
1: 87,733,071 (GRCm39) |
I13T |
probably damaging |
Het |
Sat2 |
T |
C |
11: 69,513,789 (GRCm39) |
|
probably null |
Het |
Scn5a |
A |
T |
9: 119,315,091 (GRCm39) |
D1872E |
possibly damaging |
Het |
Slit3 |
G |
A |
11: 35,591,211 (GRCm39) |
G1341D |
possibly damaging |
Het |
Tmed11 |
A |
T |
5: 108,927,750 (GRCm39) |
S95T |
possibly damaging |
Het |
Tmem186 |
A |
G |
16: 8,453,733 (GRCm39) |
V176A |
possibly damaging |
Het |
Trim12c |
A |
T |
7: 103,997,422 (GRCm39) |
S45T |
possibly damaging |
Het |
Ube4b |
C |
A |
4: 149,468,275 (GRCm39) |
R167L |
probably damaging |
Het |
Zfp335 |
A |
T |
2: 164,752,540 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Sh2b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2013-12-09 |