Incidental Mutation 'IGL00574:Baiap2'
| ID |
9190 |
| 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 # |
IGL00574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119833762-119897608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119897234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 530
(S530P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026436]
[ENSMUST00000064307]
[ENSMUST00000075180]
[ENSMUST00000103019]
[ENSMUST00000103020]
[ENSMUST00000103021]
[ENSMUST00000106231]
[ENSMUST00000106233]
|
| AlphaFold |
Q8BKX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026436
AA Change: S530P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026436
Gene: ENSMUSG00000025372
AA Change: S530P
| 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: ENSMUST00000064307
|
| SMART Domains |
Protein: ENSMUSP00000067181
Gene: ENSMUSG00000025375
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
49 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
135 |
405 |
3.9e-63 |
PFAM |
|
Pfam:Pkinase
|
136 |
404 |
2.6e-33 |
PFAM |
|
low complexity region
|
425 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
666 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
819 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
934 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
1004 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1082 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1174 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1204 |
N/A |
INTRINSIC |
|
low complexity region
|
1319 |
1333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075180
|
| SMART Domains |
Protein: ENSMUSP00000074674
Gene: ENSMUSG00000025372
| 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 |
probably benign
Transcript: ENSMUST00000103019
|
| SMART Domains |
Protein: ENSMUSP00000099308
Gene: ENSMUSG00000025375
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
78 |
347 |
3e-36 |
PFAM |
|
Pfam:Pkinase_Tyr
|
78 |
348 |
1.9e-62 |
PFAM |
|
low complexity region
|
368 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1117 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103020
|
| SMART Domains |
Protein: ENSMUSP00000099309
Gene: ENSMUSG00000025375
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
78 |
347 |
3e-36 |
PFAM |
|
Pfam:Pkinase_Tyr
|
78 |
348 |
1.9e-62 |
PFAM |
|
low complexity region
|
368 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1117 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103021
|
| SMART Domains |
Protein: ENSMUSP00000099310
Gene: ENSMUSG00000025372
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101838
Gene: ENSMUSG00000025372
| 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 |
noncoding transcript
Transcript: ENSMUST00000142959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131580
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106233
|
| SMART Domains |
Protein: ENSMUSP00000101840
Gene: ENSMUSG00000025372
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
C |
1: 125,339,011 (GRCm39) |
Y109C |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,703,107 (GRCm39) |
L568Q |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,156,376 (GRCm39) |
I164V |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,947,330 (GRCm39) |
N473S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,487 (GRCm39) |
D191G |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,852,162 (GRCm39) |
N135K |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,820,787 (GRCm39) |
N1134S |
probably benign |
Het |
| Macrod2 |
T |
G |
2: 140,242,797 (GRCm39) |
M21R |
probably damaging |
Het |
| Mtx3 |
G |
T |
13: 92,984,384 (GRCm39) |
Q188H |
possibly damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,794 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,423 (GRCm39) |
F26C |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,341,708 (GRCm39) |
I647K |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,975 (GRCm39) |
N522K |
probably benign |
Het |
| Rbm10 |
T |
A |
X: 20,516,931 (GRCm39) |
|
probably benign |
Het |
| Rbm10 |
G |
A |
X: 20,516,932 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,572,762 (GRCm39) |
E734G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,463 (GRCm39) |
V837A |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sohlh2 |
C |
T |
3: 55,111,747 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,469,937 (GRCm39) |
Q43* |
probably null |
Het |
| Tmem147 |
G |
A |
7: 30,427,858 (GRCm39) |
R66* |
probably null |
Het |
| Tmem150c |
G |
T |
5: 100,240,810 (GRCm39) |
H51N |
probably benign |
Het |
| Usp47 |
A |
T |
7: 111,662,542 (GRCm39) |
K228M |
probably damaging |
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 |
|
|
IGL00960:Baiap2
|
APN |
11 |
119,890,118 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
2012-12-06 |
Incidental Mutation