Incidental Mutation 'R5576:Baiap2'
ID |
437228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Baiap2
|
Ensembl Gene |
ENSMUSG00000025372 |
Gene Name |
brain-specific angiogenesis inhibitor 1-associated protein 2 |
Synonyms |
IRSp53 |
MMRRC Submission |
043131-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R5576 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119833762-119897608 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119887737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 297
(V297E)
|
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: V297E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000026436 Gene: ENSMUSG00000025372 AA Change: V297E
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: V297E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000074674 Gene: ENSMUSG00000025372 AA Change: V297E
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
|
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
AA Change: V297E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000101838 Gene: ENSMUSG00000025372 AA Change: V297E
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: V297E
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000101840 Gene: ENSMUSG00000025372 AA Change: V297E
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
G |
A |
5: 109,885,570 (GRCm39) |
T96I |
probably benign |
Het |
Add2 |
G |
T |
6: 86,084,457 (GRCm39) |
|
probably null |
Het |
Agbl1 |
C |
T |
7: 75,984,985 (GRCm39) |
T134M |
probably benign |
Het |
Agfg1 |
T |
A |
1: 82,848,445 (GRCm39) |
S32T |
probably benign |
Het |
Ankrd17 |
A |
C |
5: 90,391,083 (GRCm39) |
S2087A |
probably benign |
Het |
Apob |
A |
T |
12: 8,048,662 (GRCm39) |
E1012V |
probably damaging |
Het |
BC034090 |
T |
G |
1: 155,117,214 (GRCm39) |
K301N |
probably benign |
Het |
Bhlha9 |
T |
C |
11: 76,563,595 (GRCm39) |
I74T |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,069,712 (GRCm39) |
H189R |
probably benign |
Het |
Ccdc122 |
G |
A |
14: 77,329,317 (GRCm39) |
M123I |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,724,922 (GRCm39) |
|
probably null |
Het |
Dnaja2 |
A |
T |
8: 86,266,033 (GRCm39) |
L351I |
possibly damaging |
Het |
Efcab6 |
C |
A |
15: 83,834,201 (GRCm39) |
S469I |
probably benign |
Het |
Esp15 |
C |
A |
17: 39,953,564 (GRCm39) |
T17K |
probably damaging |
Het |
Fads1 |
A |
G |
19: 10,163,238 (GRCm39) |
T172A |
probably benign |
Het |
Fbp2 |
A |
T |
13: 62,985,005 (GRCm39) |
D305E |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,382,602 (GRCm39) |
T541A |
probably benign |
Het |
Herc3 |
T |
C |
6: 58,865,710 (GRCm39) |
Y768H |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,753,931 (GRCm39) |
V514A |
possibly damaging |
Het |
Melk |
A |
G |
4: 44,312,255 (GRCm39) |
E141G |
probably null |
Het |
Nln |
A |
G |
13: 104,195,338 (GRCm39) |
Y245H |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,310,414 (GRCm39) |
R1563H |
probably damaging |
Het |
Or7g34 |
T |
A |
9: 19,478,369 (GRCm39) |
M101L |
probably benign |
Het |
Or8b44 |
A |
C |
9: 38,410,204 (GRCm39) |
K80Q |
probably damaging |
Het |
Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
Pex11g |
A |
G |
8: 3,515,875 (GRCm39) |
S53P |
probably damaging |
Het |
Pole |
A |
T |
5: 110,459,931 (GRCm39) |
K1112* |
probably null |
Het |
Ppfia4 |
T |
G |
1: 134,250,788 (GRCm39) |
D184A |
possibly damaging |
Het |
Rpp30 |
T |
A |
19: 36,079,251 (GRCm39) |
D216E |
probably benign |
Het |
Sbno2 |
C |
T |
10: 79,903,171 (GRCm39) |
A398T |
probably damaging |
Het |
Sbp |
T |
A |
17: 24,164,552 (GRCm39) |
S94T |
probably benign |
Het |
Skp1 |
T |
G |
11: 52,133,415 (GRCm39) |
D33E |
possibly damaging |
Het |
Slc17a8 |
A |
G |
10: 89,433,364 (GRCm39) |
W220R |
probably damaging |
Het |
Slfn9 |
A |
T |
11: 82,872,258 (GRCm39) |
M826K |
probably benign |
Het |
Snx2 |
A |
G |
18: 53,343,822 (GRCm39) |
K322E |
probably benign |
Het |
Spata32 |
T |
A |
11: 103,100,653 (GRCm39) |
N38I |
possibly damaging |
Het |
Sycp1 |
T |
C |
3: 102,726,218 (GRCm39) |
R969G |
probably damaging |
Het |
Trgc2 |
T |
C |
13: 19,489,301 (GRCm39) |
I144V |
probably benign |
Het |
Trpc1 |
A |
G |
9: 95,603,377 (GRCm39) |
L385S |
probably damaging |
Het |
Vmn2r105 |
C |
T |
17: 20,444,836 (GRCm39) |
|
probably null |
Het |
Xrcc6 |
T |
A |
15: 81,906,693 (GRCm39) |
D79E |
probably damaging |
Het |
Zan |
A |
T |
5: 137,426,744 (GRCm39) |
C2467* |
probably null |
Het |
Zfp26 |
A |
G |
9: 20,348,803 (GRCm39) |
V587A |
possibly damaging |
Het |
Zfp553 |
C |
T |
7: 126,835,875 (GRCm39) |
R477C |
possibly 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGATCCCATTCCTGGAGC -3'
(R):5'- ACTGGTGGCATAGCTGTTCTTC -3'
Sequencing Primer
(F):5'- ACCTGAGCTGGCACCATTTG -3'
(R):5'- GCTGTTCTTCGGCGTCACG -3'
|
Posted On |
2016-10-26 |