Incidental Mutation 'R4683:Sh2b2'
| ID |
350110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh2b2
|
| Ensembl Gene |
ENSMUSG00000005057 |
| Gene Name |
SH2B adaptor protein 2 |
| Synonyms |
Aps |
| MMRRC Submission |
041935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R4683 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136247001-136275410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136260574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 214
(C214Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005188]
[ENSMUST00000196245]
[ENSMUST00000196397]
[ENSMUST00000196447]
|
| AlphaFold |
Q9JID9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005188
AA Change: C214Y
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005188
Gene: ENSMUSG00000005057
AA Change: C214Y
| 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 damaging
Transcript: ENSMUST00000196397
AA Change: C214Y
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142398
Gene: ENSMUSG00000005057
AA Change: C214Y
| 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: C214Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142728
Gene: ENSMUSG00000005057
AA Change: C214Y
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr3 |
T |
C |
1: 90,141,709 (GRCm39) |
V56A |
probably damaging |
Het |
| Acyp1 |
A |
G |
12: 85,325,717 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
T |
15: 74,459,963 (GRCm39) |
K532I |
probably damaging |
Het |
| Ahrr |
T |
A |
13: 74,372,885 (GRCm39) |
|
silent |
Het |
| Asz1 |
T |
C |
6: 18,055,541 (GRCm39) |
|
probably benign |
Het |
| AW554918 |
T |
C |
18: 25,472,852 (GRCm39) |
Y219H |
probably benign |
Het |
| Ccno |
C |
A |
13: 113,125,543 (GRCm39) |
|
probably null |
Het |
| Cdh17 |
A |
T |
4: 11,817,036 (GRCm39) |
N816Y |
possibly damaging |
Het |
| Clca4a |
C |
T |
3: 144,660,701 (GRCm39) |
V708I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,701,179 (GRCm39) |
Y2579F |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,957,329 (GRCm39) |
V165A |
probably benign |
Het |
| Csf1r |
T |
A |
18: 61,257,983 (GRCm39) |
C651S |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,126,985 (GRCm39) |
D315G |
probably null |
Het |
| Def6 |
A |
G |
17: 28,436,609 (GRCm39) |
D91G |
probably damaging |
Het |
| Dmxl1 |
T |
G |
18: 50,011,088 (GRCm39) |
S1082A |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,768 (GRCm39) |
Y2392N |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,594,466 (GRCm39) |
S532P |
probably benign |
Het |
| Efr3a |
C |
A |
15: 65,691,650 (GRCm39) |
S126R |
probably damaging |
Het |
| Gab1 |
A |
C |
8: 81,515,261 (GRCm39) |
H352Q |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,831,890 (GRCm39) |
M87T |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,761,774 (GRCm39) |
M535I |
possibly damaging |
Het |
| Greb1l |
T |
A |
18: 10,529,563 (GRCm39) |
|
probably null |
Het |
| Gucy2d |
T |
C |
7: 98,102,650 (GRCm39) |
C487R |
probably benign |
Het |
| H1f7 |
A |
T |
15: 98,154,921 (GRCm39) |
I76N |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,614 (GRCm39) |
H122L |
possibly damaging |
Het |
| Mrps22 |
A |
T |
9: 98,480,359 (GRCm39) |
|
probably null |
Het |
| Mxd3 |
T |
C |
13: 55,473,613 (GRCm39) |
T202A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,134,074 (GRCm39) |
H3303R |
possibly damaging |
Het |
| Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
| Or13a19 |
T |
C |
7: 139,902,681 (GRCm39) |
L23P |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,039 (GRCm39) |
T201A |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,255,675 (GRCm39) |
Y629H |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 82,033,446 (GRCm39) |
D1781G |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,316,092 (GRCm39) |
I117N |
possibly damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Pfkfb2 |
T |
A |
1: 130,634,221 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,114,901 (GRCm39) |
E1456G |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Slc52a2 |
C |
A |
15: 76,424,433 (GRCm39) |
P224T |
probably damaging |
Het |
| Slf2 |
C |
G |
19: 44,923,920 (GRCm39) |
R245G |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,779,193 (GRCm39) |
S648G |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,673,344 (GRCm39) |
I1079N |
probably benign |
Het |
| Stxbp3 |
T |
C |
3: 108,708,188 (GRCm39) |
D371G |
probably damaging |
Het |
| Trnau1ap |
A |
T |
4: 132,049,063 (GRCm39) |
Y47N |
probably damaging |
Het |
| Ubr5 |
C |
T |
15: 38,038,211 (GRCm39) |
R316H |
probably damaging |
Het |
| Vmn1r230 |
C |
T |
17: 21,067,515 (GRCm39) |
R235C |
probably benign |
Het |
| Wnt10a |
C |
T |
1: 74,842,296 (GRCm39) |
H93Y |
unknown |
Het |
| Zfp1005 |
T |
A |
2: 150,108,390 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Zfp52 |
A |
G |
17: 21,781,769 (GRCm39) |
D539G |
probably benign |
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 |
|
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'- TCTCCAAACCATCCCTAGGG -3'
(R):5'- CTGCGTAACATGAGCCTGTG -3'
Sequencing Primer
(F):5'- CCTAGGGACCTACCTGTCAC -3'
(R):5'- AACATGAGCCTGTGTGTGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation