Incidental Mutation 'IGL00960:Baiap2'
| ID |
28600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Baiap2
|
| Ensembl Gene |
ENSMUSG00000025372 |
| Gene Name |
brain-specific angiogenesis inhibitor 1-associated protein 2 |
| Synonyms |
IRSp53 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
IGL00960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119833762-119897608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119890118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 460
(S460T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026436]
[ENSMUST00000075180]
[ENSMUST00000103021]
[ENSMUST00000106231]
[ENSMUST00000106233]
|
| AlphaFold |
Q8BKX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026436
AA Change: S500T
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000026436
Gene: ENSMUSG00000025372
AA Change: S500T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
17 |
237 |
6e-101 |
PFAM |
|
PDB:4JS0|B
|
261 |
292 |
2e-13 |
PDB |
|
low complexity region
|
321 |
335 |
N/A |
INTRINSIC |
|
SH3
|
378 |
437 |
9.77e-11 |
SMART |
|
low complexity region
|
459 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075180
AA Change: S500T
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074674
Gene: ENSMUSG00000025372
AA Change: S500T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
17 |
237 |
3e-98 |
PFAM |
|
PDB:4JS0|B
|
261 |
292 |
8e-14 |
PDB |
|
low complexity region
|
321 |
335 |
N/A |
INTRINSIC |
|
SH3
|
378 |
437 |
9.77e-11 |
SMART |
|
low complexity region
|
459 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103021
AA Change: S460T
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099310
Gene: ENSMUSG00000025372
AA Change: S460T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
17 |
237 |
2.5e-98 |
PFAM |
|
PDB:4JS0|B
|
261 |
292 |
2e-12 |
PDB |
|
SH3
|
338 |
397 |
9.77e-11 |
SMART |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106231
AA Change: S500T
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101838
Gene: ENSMUSG00000025372
AA Change: S500T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
17 |
237 |
6.4e-98 |
PFAM |
|
PDB:4JS0|B
|
261 |
292 |
8e-14 |
PDB |
|
low complexity region
|
321 |
335 |
N/A |
INTRINSIC |
|
SH3
|
378 |
437 |
9.77e-11 |
SMART |
|
low complexity region
|
459 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106233
AA Change: S500T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101840
Gene: ENSMUSG00000025372
AA Change: S500T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
17 |
237 |
1.6e-98 |
PFAM |
|
PDB:4JS0|B
|
261 |
292 |
8e-14 |
PDB |
|
low complexity region
|
321 |
335 |
N/A |
INTRINSIC |
|
SH3
|
378 |
437 |
9.77e-11 |
SMART |
|
low complexity region
|
459 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131580
|
| Coding Region Coverage |
|
| 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 has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mice show enhanced NMDA receptor-mediated synaptic transmission, enhanced long-term potentiation, and impaired learning and memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,634,671 (GRCm39) |
R444L |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,858,634 (GRCm39) |
Y158H |
probably damaging |
Het |
| Cdk4 |
A |
G |
10: 126,900,166 (GRCm39) |
Y21C |
probably damaging |
Het |
| Entpd1 |
C |
T |
19: 40,699,714 (GRCm39) |
P42S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,679,150 (GRCm39) |
|
probably null |
Het |
| Fastkd1 |
A |
T |
2: 69,524,997 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,013,494 (GRCm39) |
D951G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,233,719 (GRCm39) |
T199S |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,181,866 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,466,820 (GRCm39) |
H1314Q |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,811 (GRCm39) |
S795T |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,335,947 (GRCm39) |
S1042P |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 25,966,861 (GRCm39) |
L197F |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,446,846 (GRCm39) |
Y428C |
probably benign |
Het |
| Or10d5j |
A |
G |
9: 39,867,455 (GRCm39) |
Y259H |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,661,589 (GRCm39) |
D1453G |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,026 (GRCm39) |
I235F |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,725,234 (GRCm39) |
V1364A |
unknown |
Het |
| Polq |
T |
C |
16: 36,880,874 (GRCm39) |
S734P |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,954,864 (GRCm39) |
*290Q |
probably null |
Het |
| Slc22a3 |
A |
T |
17: 12,644,497 (GRCm39) |
I496N |
probably damaging |
Het |
| Slc5a8 |
T |
G |
10: 88,757,627 (GRCm39) |
I539S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,270,376 (GRCm39) |
F1311L |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,752,650 (GRCm39) |
I19N |
possibly damaging |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,582 (GRCm39) |
S799C |
probably damaging |
Het |
| Zar1 |
G |
A |
5: 72,734,628 (GRCm39) |
T197I |
probably damaging |
Het |
| Zfa-ps |
A |
G |
10: 52,420,043 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Baiap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Baiap2
|
APN |
11 |
119,872,836 (GRCm39) |
missense |
probably benign |
|
|
IGL00574:Baiap2
|
APN |
11 |
119,897,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4480001:Baiap2
|
UTSW |
11 |
119,887,913 (GRCm39) |
missense |
probably benign |
|
|
R0637:Baiap2
|
UTSW |
11 |
119,891,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1682:Baiap2
|
UTSW |
11 |
119,888,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2138:Baiap2
|
UTSW |
11 |
119,847,928 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2513:Baiap2
|
UTSW |
11 |
119,890,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4924:Baiap2
|
UTSW |
11 |
119,887,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Baiap2
|
UTSW |
11 |
119,887,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Baiap2
|
UTSW |
11 |
119,887,737 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6235:Baiap2
|
UTSW |
11 |
119,872,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6966:Baiap2
|
UTSW |
11 |
119,897,231 (GRCm39) |
nonsense |
probably null |
|
|
R7252:Baiap2
|
UTSW |
11 |
119,893,865 (GRCm39) |
missense |
probably benign |
|
|
R8288:Baiap2
|
UTSW |
11 |
119,888,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:Baiap2
|
UTSW |
11 |
119,897,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9609:Baiap2
|
UTSW |
11 |
119,847,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF005:Baiap2
|
UTSW |
11 |
119,887,355 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2013-04-17 |
Incidental Mutation