Incidental Mutation 'R3702:Sh2b2'
| ID |
258559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh2b2
|
| Ensembl Gene |
ENSMUSG00000005057 |
| Gene Name |
SH2B adaptor protein 2 |
| Synonyms |
Aps |
| MMRRC Submission |
040695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R3702 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
136247001-136275410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136253087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 362
(S362P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005188]
[ENSMUST00000196397]
[ENSMUST00000196447]
|
| AlphaFold |
Q9JID9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005188
AA Change: S362P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057
AA Change: S362P
| 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 |
possibly damaging
Transcript: ENSMUST00000196397
AA Change: S362P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057
AA Change: S362P
| 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 damaging
Transcript: ENSMUST00000196447
AA Change: S362P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057
AA Change: S362P
| 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
|
| Meta Mutation Damage Score |
0.4936 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
| Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
| Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
| Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
| Cpped1 |
G |
T |
16: 11,646,304 (GRCm39) |
D135E |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
| Myot |
T |
A |
18: 44,487,162 (GRCm39) |
|
probably null |
Het |
| Obox2 |
G |
T |
7: 15,130,882 (GRCm39) |
R38L |
probably benign |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
| Pip4k2b |
A |
G |
11: 97,620,374 (GRCm39) |
|
probably benign |
Het |
| Ppig |
T |
A |
2: 69,563,553 (GRCm39) |
S89T |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
| Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
| Tcea1 |
T |
C |
1: 4,965,158 (GRCm39) |
V276A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,036,709 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
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 |
|
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'- GCCCGTTCTGGCTTAGAAAG -3'
(R):5'- CACAGGACTGTCTTGTGCAC -3'
Sequencing Primer
(F):5'- CTTAGAAAGCCAAAACCACTGTAG -3'
(R):5'- TGAGCTCCTGACAGATGGTAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation