Incidental Mutation 'IGL00425:Baiap2'
| ID |
4460 |
| 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 # |
IGL00425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119833762-119897608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119872836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 125
(T125A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026436]
[ENSMUST00000075180]
[ENSMUST00000103021]
[ENSMUST00000106231]
[ENSMUST00000106233]
|
| AlphaFold |
Q8BKX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026436
AA Change: T125A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026436
Gene: ENSMUSG00000025372
AA Change: T125A
| 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: T125A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074674
Gene: ENSMUSG00000025372
AA Change: T125A
| 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: ENSMUST00000103021
AA Change: T125A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099310
Gene: ENSMUSG00000025372
AA Change: T125A
| 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: T125A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101838
Gene: ENSMUSG00000025372
AA Change: T125A
| 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 |
probably benign
Transcript: ENSMUST00000106233
AA Change: T125A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101840
Gene: ENSMUSG00000025372
AA Change: T125A
| 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: ENSMUST00000146566
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,311,498 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
A |
T |
4: 129,912,865 (GRCm39) |
H1373L |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,547 (GRCm39) |
S599P |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,961,103 (GRCm39) |
|
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,404,550 (GRCm39) |
S1114P |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,765 (GRCm39) |
S111P |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,459,176 (GRCm39) |
T78S |
possibly damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,321,709 (GRCm39) |
|
probably null |
Het |
| Cdkl3 |
C |
A |
11: 51,920,683 (GRCm39) |
T462K |
probably benign |
Het |
| Chid1 |
A |
C |
7: 141,102,609 (GRCm39) |
L208R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,542,342 (GRCm39) |
S487P |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,748 (GRCm39) |
L1816Q |
unknown |
Het |
| Dido1 |
A |
G |
2: 180,325,782 (GRCm39) |
S469P |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,734,826 (GRCm39) |
N935D |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,702,961 (GRCm39) |
I184T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,253,620 (GRCm39) |
I32V |
possibly damaging |
Het |
| Hycc2 |
A |
T |
1: 58,579,412 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
G |
A |
12: 119,153,561 (GRCm39) |
T318I |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,781,236 (GRCm39) |
S703G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,743,866 (GRCm39) |
S1321C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,717 (GRCm39) |
N415S |
possibly damaging |
Het |
| Megf10 |
C |
A |
18: 57,373,700 (GRCm39) |
A166D |
probably damaging |
Het |
| Mrm3 |
T |
G |
11: 76,135,319 (GRCm39) |
S177A |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,539,368 (GRCm39) |
F2011S |
probably benign |
Het |
| Nipal1 |
C |
T |
5: 72,816,067 (GRCm39) |
S30L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,447 (GRCm39) |
Y895H |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,500,559 (GRCm39) |
N495D |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,548,182 (GRCm39) |
|
probably null |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,835,663 (GRCm39) |
D40G |
probably benign |
Het |
| Serhl |
A |
T |
15: 82,989,838 (GRCm39) |
D192V |
possibly damaging |
Het |
| Slc12a5 |
C |
T |
2: 164,825,201 (GRCm39) |
A461V |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,900,582 (GRCm39) |
|
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,650,559 (GRCm39) |
N45D |
probably damaging |
Het |
|
| Other mutations in Baiap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00574:Baiap2
|
APN |
11 |
119,897,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-04-20 |
Incidental Mutation