Incidental Mutation 'R6391:Sh3bp2'
| ID |
515759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp2
|
| Ensembl Gene |
ENSMUSG00000054520 |
| Gene Name |
SH3-domain binding protein 2 |
| Synonyms |
3BP2 |
| MMRRC Submission |
044540-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34683182-34720985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34718947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 495
(V495I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067638]
[ENSMUST00000101316]
[ENSMUST00000118545]
[ENSMUST00000179943]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067638
AA Change: V495I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070890
Gene: ENSMUSG00000054520
AA Change: V495I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
132 |
1.33e-18 |
SMART |
|
low complexity region
|
141 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
385 |
N/A |
INTRINSIC |
|
SH2
|
453 |
542 |
2.04e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101316
AA Change: V539I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098874
Gene: ENSMUSG00000054520
AA Change: V539I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
71 |
176 |
1.33e-18 |
SMART |
|
low complexity region
|
185 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
429 |
N/A |
INTRINSIC |
|
SH2
|
497 |
586 |
2.04e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118545
AA Change: V551I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112554
Gene: ENSMUSG00000054520
AA Change: V551I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
83 |
188 |
1.33e-18 |
SMART |
|
low complexity region
|
197 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
441 |
N/A |
INTRINSIC |
|
SH2
|
509 |
598 |
2.04e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153750
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179943
AA Change: V495I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136671
Gene: ENSMUSG00000054520
AA Change: V495I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
132 |
1.33e-18 |
SMART |
|
low complexity region
|
141 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
385 |
N/A |
INTRINSIC |
|
SH2
|
453 |
542 |
2.04e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl7b |
G |
T |
5: 135,208,879 (GRCm39) |
S114I |
probably damaging |
Het |
| Cct8 |
A |
T |
16: 87,284,566 (GRCm39) |
M207K |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,769,702 (GRCm39) |
|
probably null |
Het |
| Cst13 |
T |
C |
2: 148,670,111 (GRCm39) |
C94R |
probably damaging |
Het |
| Cyp8b1 |
G |
T |
9: 121,744,864 (GRCm39) |
S156* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,049,157 (GRCm39) |
S184P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,984 (GRCm39) |
W516R |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,889,803 (GRCm39) |
C890* |
probably null |
Het |
| Eed |
A |
G |
7: 89,626,149 (GRCm39) |
S75P |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,885,143 (GRCm39) |
L4134S |
possibly damaging |
Het |
| Etaa1 |
A |
C |
11: 17,896,833 (GRCm39) |
I428S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,021,062 (GRCm39) |
D1179V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,379 (GRCm39) |
V710A |
possibly damaging |
Het |
| Fmo4 |
G |
A |
1: 162,621,538 (GRCm39) |
Q558* |
probably null |
Het |
| Gm7361 |
A |
G |
5: 26,463,960 (GRCm39) |
I72V |
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,654,294 (GRCm39) |
V552A |
probably benign |
Het |
| Krt13 |
T |
A |
11: 100,010,202 (GRCm39) |
I260F |
probably damaging |
Het |
| Krtap3-3 |
T |
C |
11: 99,441,490 (GRCm39) |
D49G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,614,554 (GRCm39) |
E409G |
probably benign |
Het |
| Ly9 |
A |
G |
1: 171,428,576 (GRCm39) |
V238A |
possibly damaging |
Het |
| Map2k6 |
T |
C |
11: 110,381,703 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
C |
2: 152,759,315 (GRCm39) |
L362P |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,000,942 (GRCm39) |
I205F |
probably benign |
Het |
| Or4c3 |
A |
G |
2: 89,851,975 (GRCm39) |
V145A |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,622 (GRCm39) |
Y69F |
possibly damaging |
Het |
| Pcdha9 |
G |
A |
18: 37,130,972 (GRCm39) |
V14M |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,578,418 (GRCm39) |
E380D |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,364 (GRCm39) |
Y739H |
possibly damaging |
Het |
| Pigk |
A |
G |
3: 152,446,486 (GRCm39) |
H195R |
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,580,236 (GRCm39) |
D175G |
probably null |
Het |
| Plk4 |
T |
A |
3: 40,763,408 (GRCm39) |
H526Q |
probably benign |
Het |
| Pom121l12 |
A |
T |
11: 14,549,489 (GRCm39) |
D65V |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,184,139 (GRCm39) |
Y498C |
unknown |
Het |
| Slx4ip |
T |
A |
2: 136,888,669 (GRCm39) |
C117S |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,409,551 (GRCm39) |
S20R |
probably benign |
Het |
| Unc79 |
A |
G |
12: 102,987,269 (GRCm39) |
Y186C |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,348 (GRCm39) |
L641P |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,114,495 (GRCm39) |
S674T |
probably benign |
Het |
| Zfp959 |
T |
C |
17: 56,202,854 (GRCm39) |
F10L |
probably damaging |
Het |
|
| Other mutations in Sh3bp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01845:Sh3bp2
|
APN |
5 |
34,713,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02478:Sh3bp2
|
APN |
5 |
34,709,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03196:Sh3bp2
|
APN |
5 |
34,714,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Sh3bp2
|
APN |
5 |
34,716,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Sh3bp2
|
UTSW |
5 |
34,712,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1322:Sh3bp2
|
UTSW |
5 |
34,712,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Sh3bp2
|
UTSW |
5 |
34,712,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1573:Sh3bp2
|
UTSW |
5 |
34,718,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1649:Sh3bp2
|
UTSW |
5 |
34,716,348 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1939:Sh3bp2
|
UTSW |
5 |
34,708,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Sh3bp2
|
UTSW |
5 |
34,701,569 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2372:Sh3bp2
|
UTSW |
5 |
34,716,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2903:Sh3bp2
|
UTSW |
5 |
34,700,900 (GRCm39) |
nonsense |
probably null |
|
|
R3709:Sh3bp2
|
UTSW |
5 |
34,709,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4344:Sh3bp2
|
UTSW |
5 |
34,712,886 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4391:Sh3bp2
|
UTSW |
5 |
34,707,062 (GRCm39) |
missense |
probably benign |
|
|
R5068:Sh3bp2
|
UTSW |
5 |
34,714,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5637:Sh3bp2
|
UTSW |
5 |
34,718,392 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5658:Sh3bp2
|
UTSW |
5 |
34,714,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Sh3bp2
|
UTSW |
5 |
34,719,809 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6014:Sh3bp2
|
UTSW |
5 |
34,716,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6737:Sh3bp2
|
UTSW |
5 |
34,719,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Sh3bp2
|
UTSW |
5 |
34,718,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7536:Sh3bp2
|
UTSW |
5 |
34,700,901 (GRCm39) |
missense |
probably benign |
|
|
R7871:Sh3bp2
|
UTSW |
5 |
34,716,429 (GRCm39) |
missense |
not run |
|
|
R8775:Sh3bp2
|
UTSW |
5 |
34,719,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775-TAIL:Sh3bp2
|
UTSW |
5 |
34,719,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Sh3bp2
|
UTSW |
5 |
34,709,164 (GRCm39) |
intron |
probably benign |
|
|
R9180:Sh3bp2
|
UTSW |
5 |
34,718,377 (GRCm39) |
nonsense |
probably null |
|
|
R9350:Sh3bp2
|
UTSW |
5 |
34,718,453 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9687:Sh3bp2
|
UTSW |
5 |
34,716,977 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTTCTAAGGGCAGAGG -3'
(R):5'- TAAAACCAAGGGCGGCTACC -3'
Sequencing Primer
(F):5'- CTTTCTAAGGGCAGAGGGATGAC -3'
(R):5'- GGCTACCCAGTACTTCTAGAGTAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation