Incidental Mutation 'R5486:Sh2b2'
ID |
430359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh2b2
|
Ensembl Gene |
ENSMUSG00000005057 |
Gene Name |
SH2B adaptor protein 2 |
Synonyms |
Aps |
MMRRC Submission |
043047-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.922)
|
Stock # |
R5486 (G1)
|
Quality Score |
165 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
136247001-136275410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136260944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 91
(S91P)
|
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: S91P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000005188 Gene: ENSMUSG00000005057 AA Change: S91P
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: S91P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000142398 Gene: ENSMUSG00000005057 AA Change: S91P
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: S91P
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000142728 Gene: ENSMUSG00000005057 AA Change: S91P
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 |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
Acad8 |
A |
T |
9: 26,910,791 (GRCm39) |
M1K |
probably null |
Het |
Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Cyp2d9 |
T |
A |
15: 82,336,779 (GRCm39) |
W43R |
probably damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
Het |
Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
Pld3 |
C |
A |
7: 27,233,156 (GRCm39) |
W365L |
probably damaging |
Het |
Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
Skor2 |
A |
G |
18: 76,946,395 (GRCm39) |
N39S |
unknown |
Het |
Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,721,927 (GRCm39) |
S595P |
probably damaging |
Het |
Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
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 |
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 |
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'- GTCCATTTGTCACGAGGCTC -3'
(R):5'- CACACAAGTTCTGCCGCTTC -3'
Sequencing Primer
(F):5'- ATTTGTCACGAGGCTCCGACG -3'
(R):5'- CGCTTCCTTCGGGACAAC -3'
|
Posted On |
2016-10-05 |