Incidental Mutation 'IGL02798:Sh2b2'
ID |
360036 |
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 # |
IGL02798
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
136247001-136275410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 136250817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 419
(A419E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005188]
[ENSMUST00000196397]
[ENSMUST00000196447]
|
AlphaFold |
Q9JID9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005188
AA Change: A419E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005188 Gene: ENSMUSG00000005057 AA Change: A419E
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 damaging
Transcript: ENSMUST00000196397
AA Change: A419E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142398 Gene: ENSMUSG00000005057 AA Change: A419E
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
|
SMART Domains |
Protein: ENSMUSP00000142728 Gene: ENSMUSG00000005057
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 |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
T |
14: 66,277,724 (GRCm39) |
C514S |
probably damaging |
Het |
Alcam |
A |
G |
16: 52,126,002 (GRCm39) |
I105T |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,292,441 (GRCm39) |
|
probably null |
Het |
Arhgef17 |
A |
G |
7: 100,578,833 (GRCm39) |
V705A |
probably benign |
Het |
C87436 |
T |
A |
6: 86,423,184 (GRCm39) |
C253S |
probably benign |
Het |
Cbx7 |
T |
C |
15: 79,802,600 (GRCm39) |
T226A |
probably damaging |
Het |
Cdh20 |
T |
C |
1: 104,875,190 (GRCm39) |
I324T |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,720,774 (GRCm39) |
H2608L |
probably damaging |
Het |
Cramp1 |
A |
G |
17: 25,187,894 (GRCm39) |
|
probably benign |
Het |
Ddx25 |
A |
G |
9: 35,462,693 (GRCm39) |
C231R |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,563,690 (GRCm39) |
|
probably benign |
Het |
Hip1r |
T |
C |
5: 124,132,775 (GRCm39) |
|
probably benign |
Het |
Insrr |
C |
T |
3: 87,717,824 (GRCm39) |
P842S |
probably damaging |
Het |
Lama1 |
G |
T |
17: 68,102,186 (GRCm39) |
|
probably benign |
Het |
Lig3 |
T |
C |
11: 82,686,531 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
C |
A |
2: 91,307,055 (GRCm39) |
T392K |
probably benign |
Het |
Msl2 |
G |
T |
9: 100,957,430 (GRCm39) |
R33S |
probably benign |
Het |
Nrde2 |
T |
A |
12: 100,110,081 (GRCm39) |
K317* |
probably null |
Het |
Nub1 |
C |
A |
5: 24,897,812 (GRCm39) |
A42D |
probably damaging |
Het |
Obox2 |
T |
C |
7: 15,130,807 (GRCm39) |
V13A |
possibly damaging |
Het |
Or13p3 |
T |
C |
4: 118,566,696 (GRCm39) |
F31L |
probably damaging |
Het |
Or4k5 |
T |
A |
14: 50,385,835 (GRCm39) |
K165N |
probably benign |
Het |
Or5ac20 |
A |
T |
16: 59,104,478 (GRCm39) |
C127* |
probably null |
Het |
Phkb |
T |
C |
8: 86,770,406 (GRCm39) |
Y892H |
probably benign |
Het |
Ptdss1 |
A |
G |
13: 67,124,824 (GRCm39) |
Y341C |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,544,219 (GRCm39) |
D424G |
probably benign |
Het |
Scn9a |
C |
T |
2: 66,370,903 (GRCm39) |
R559Q |
possibly damaging |
Het |
Sctr |
G |
A |
1: 119,949,910 (GRCm39) |
C33Y |
probably damaging |
Het |
Slc22a30 |
A |
T |
19: 8,347,449 (GRCm39) |
M317K |
probably damaging |
Het |
Slc39a4 |
T |
C |
15: 76,499,382 (GRCm39) |
S178G |
probably benign |
Het |
Slc7a12 |
T |
A |
3: 14,546,217 (GRCm39) |
C121S |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,191,533 (GRCm39) |
S148G |
possibly damaging |
Het |
Tent5a |
A |
T |
9: 85,206,937 (GRCm39) |
V287E |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,963 (GRCm39) |
K507R |
probably benign |
Het |
Ttn |
T |
G |
2: 76,586,207 (GRCm39) |
K21841N |
probably damaging |
Het |
Ugcg |
T |
C |
4: 59,220,346 (GRCm39) |
Y380H |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,340,991 (GRCm39) |
T1840A |
probably damaging |
Het |
Zmynd8 |
T |
C |
2: 165,694,070 (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 |
IGL01612:Sh2b2
|
APN |
5 |
136,260,656 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2015-12-18 |