Incidental Mutation 'R7020:Sh2b2'
ID |
545564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh2b2
|
Ensembl Gene |
ENSMUSG00000005057 |
Gene Name |
SH2B adaptor protein 2 |
Synonyms |
Aps |
MMRRC Submission |
045121-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.925)
|
Stock # |
R7020 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
136247001-136275410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136253153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 340
(T340A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005188]
[ENSMUST00000196397]
[ENSMUST00000196447]
|
AlphaFold |
Q9JID9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005188
AA Change: T340A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000005188 Gene: ENSMUSG00000005057 AA Change: T340A
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: ENSMUST00000196397
AA Change: T340A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000142398 Gene: ENSMUSG00000005057 AA Change: T340A
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 |
possibly damaging
Transcript: ENSMUST00000196447
AA Change: T340A
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000142728 Gene: ENSMUSG00000005057 AA Change: T340A
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 |
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (52/52) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,634,975 (GRCm39) |
G188R |
probably damaging |
Het |
Abhd3 |
T |
C |
18: 10,645,127 (GRCm39) |
Y384C |
probably damaging |
Het |
Cd209b |
T |
A |
8: 3,968,783 (GRCm39) |
E282V |
probably damaging |
Het |
Cep350 |
A |
C |
1: 155,804,077 (GRCm39) |
L1002W |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,275,754 (GRCm39) |
V292A |
probably damaging |
Het |
Clcn7 |
T |
C |
17: 25,365,325 (GRCm39) |
I107T |
possibly damaging |
Het |
Cntrob |
A |
G |
11: 69,193,918 (GRCm39) |
|
probably null |
Het |
Crb1 |
A |
T |
1: 139,159,341 (GRCm39) |
S1294T |
possibly damaging |
Het |
Cst13 |
T |
G |
2: 148,665,129 (GRCm39) |
Y41* |
probably null |
Het |
Gp1ba |
A |
G |
11: 70,531,139 (GRCm39) |
|
probably benign |
Het |
Gucy2e |
A |
T |
11: 69,123,619 (GRCm39) |
L427I |
probably benign |
Het |
Gucy2g |
A |
G |
19: 55,221,482 (GRCm39) |
S340P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
Iglon5 |
A |
T |
7: 43,126,319 (GRCm39) |
C195S |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,002,195 (GRCm39) |
T100A |
probably damaging |
Het |
Jarid2 |
C |
T |
13: 45,038,300 (GRCm39) |
S205L |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 142,231,795 (GRCm39) |
*424C |
probably null |
Het |
Map2k6 |
A |
T |
11: 110,397,540 (GRCm39) |
|
probably benign |
Het |
Muc4 |
A |
T |
16: 32,570,628 (GRCm39) |
K563* |
probably null |
Het |
Myh7b |
T |
C |
2: 155,473,671 (GRCm39) |
I1568T |
possibly damaging |
Het |
Myo15b |
G |
A |
11: 115,757,493 (GRCm39) |
W1114* |
probably null |
Het |
Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,371,586 (GRCm39) |
T288A |
possibly damaging |
Het |
Npc1 |
C |
T |
18: 12,331,594 (GRCm39) |
G859R |
probably damaging |
Het |
Olfm2 |
T |
A |
9: 20,579,864 (GRCm39) |
R326W |
probably damaging |
Het |
Or2a7 |
T |
C |
6: 43,151,096 (GRCm39) |
Y59H |
possibly damaging |
Het |
Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
Or5g23 |
A |
G |
2: 85,438,976 (GRCm39) |
S93P |
probably benign |
Het |
Ovol1 |
G |
A |
19: 5,610,261 (GRCm39) |
P23L |
probably damaging |
Het |
Pappa2 |
C |
A |
1: 158,675,579 (GRCm39) |
V1056F |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,490,428 (GRCm39) |
L25S |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,277,743 (GRCm39) |
H860R |
possibly damaging |
Het |
Pms1 |
A |
T |
1: 53,228,541 (GRCm39) |
H902Q |
probably damaging |
Het |
Ptgs1 |
T |
G |
2: 36,141,041 (GRCm39) |
L496R |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,188,638 (GRCm39) |
Y1381* |
probably null |
Het |
Rtl1 |
T |
C |
12: 109,558,749 (GRCm39) |
Q1030R |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,583,423 (GRCm39) |
Y2816F |
probably benign |
Het |
Slc30a5 |
T |
A |
13: 100,961,421 (GRCm39) |
|
probably null |
Het |
Spta1 |
T |
C |
1: 174,036,918 (GRCm39) |
L1143P |
probably damaging |
Het |
St8sia5 |
T |
C |
18: 77,333,876 (GRCm39) |
I178T |
probably damaging |
Het |
Tap2 |
A |
G |
17: 34,433,388 (GRCm39) |
N517S |
possibly damaging |
Het |
Tcp11 |
A |
G |
17: 28,290,679 (GRCm39) |
Y227H |
possibly damaging |
Het |
Usp34 |
A |
G |
11: 23,343,954 (GRCm39) |
D1411G |
probably benign |
Het |
Vmn2r105 |
A |
G |
17: 20,429,336 (GRCm39) |
L580P |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,413,657 (GRCm39) |
E1200G |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,355,913 (GRCm39) |
V3558A |
probably benign |
Het |
Xpo7 |
T |
C |
14: 70,903,463 (GRCm39) |
N1082S |
probably benign |
Het |
Zbtb49 |
A |
T |
5: 38,370,711 (GRCm39) |
L390* |
probably null |
Het |
Zfp639 |
C |
A |
3: 32,574,261 (GRCm39) |
D295E |
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 |
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 |
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'- ACATGGGTCCCTGTAGAAGG -3'
(R):5'- ATGCTGCGTCTTCTCCACAG -3'
Sequencing Primer
(F):5'- CCTGTAGAAGGGGGTGGG -3'
(R):5'- ACAGGACTGTCTTGTGCAC -3'
|
Posted On |
2019-05-13 |