Incidental Mutation 'RF005:Baiap2'
ID 602773
Institutional Source Beutler Lab
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: 0.163) question?
Stock # RF005 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 119833762-119897608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119887355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 217 (E217K)
Ref Sequence ENSEMBL: ENSMUSP00000026436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026436] [ENSMUST00000075180] [ENSMUST00000103021] [ENSMUST00000106231] [ENSMUST00000106233]
AlphaFold Q8BKX1
Predicted Effect possibly damaging
Transcript: ENSMUST00000026436
AA Change: E217K

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026436
Gene: ENSMUSG00000025372
AA Change: E217K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000075180
AA Change: E217K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074674
Gene: ENSMUSG00000025372
AA Change: E217K

DomainStartEndE-ValueType
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: E217K

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099310
Gene: ENSMUSG00000025372
AA Change: E217K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000106231
AA Change: E217K

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101838
Gene: ENSMUSG00000025372
AA Change: E217K

DomainStartEndE-ValueType
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: E217K

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101840
Gene: ENSMUSG00000025372
AA Change: E217K

DomainStartEndE-ValueType
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
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency 94% (65/69)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGAAAGGAAAAGGTGGCCAG AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,847 (GRCm39) probably benign Het
A030005L19Rik CTGCTG CTGCTGTGGATGCTG 1: 82,891,306 (GRCm39) probably benign Het
Abca1 G T 4: 53,049,125 (GRCm39) T1651N probably damaging Het
Adamtsl3 A G 7: 82,261,603 (GRCm39) T40A Het
Adgra3 A T 5: 50,170,729 (GRCm39) probably null Het
Apcs A T 1: 172,721,809 (GRCm39) M179K probably damaging Het
Bltp3a A T 17: 28,104,505 (GRCm39) D517V probably damaging Het
Ccdc69 A G 11: 54,951,349 (GRCm39) L24P probably damaging Het
Cdh16 T G 8: 105,343,684 (GRCm39) N604T probably damaging Het
Cfb C T 17: 35,077,022 (GRCm39) V538I possibly damaging Het
Col6a3 A G 1: 90,738,984 (GRCm39) S1022P probably benign Het
Cpeb1 A G 7: 81,011,554 (GRCm39) L129S possibly damaging Het
Crybg1 A G 10: 43,880,741 (GRCm39) V149A probably benign Het
Cyp4f16 C A 17: 32,764,169 (GRCm39) probably null Het
Dlg5 G A 14: 24,208,561 (GRCm39) Q882* probably null Het
Fsip2 T A 2: 82,822,876 (GRCm39) I6203K probably benign Het
Gabre CCGGCT CCGGCTACGGCT X: 71,313,651 (GRCm39) probably null Het
Gprc5d A T 6: 135,093,517 (GRCm39) L130Q probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Hmcn1 T A 1: 150,510,897 (GRCm39) K3609* probably null Het
Hsdl2 GCTGCAG GCTGCAGCAGCAGCCACATCTGCAG 4: 59,610,652 (GRCm39) probably benign Het
Kl A C 5: 150,876,885 (GRCm39) Y235S probably benign Het
Map6d1 G A 16: 20,059,750 (GRCm39) T105I probably benign Het
Mast4 GGTGGTGGTGG GGTGGTGGTGGTGGTGG 13: 102,872,815 (GRCm39) probably benign Het
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,644 (GRCm39) probably benign Het
Mms22l A G 4: 24,517,207 (GRCm39) I363V probably benign Het
Myo7a T C 7: 97,742,824 (GRCm39) I391V probably benign Het
Nab2 A T 10: 127,500,233 (GRCm39) D286E probably benign Het
Nrxn1 G A 17: 90,670,304 (GRCm39) R1144C probably damaging Het
Or51q1 A G 7: 103,628,768 (GRCm39) D123G probably damaging Het
Or52j3 T C 7: 102,835,898 (GRCm39) I30T possibly damaging Het
Or5al5 T C 2: 85,961,414 (GRCm39) M198V probably benign Het
Pan2 G A 10: 128,151,404 (GRCm39) E842K probably benign Het
Pate11 T C 9: 36,386,970 (GRCm39) S13P possibly damaging Het
Polr1has CACCACCACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCACCACCAC 17: 37,275,940 (GRCm39) probably benign Het
Prex2 A C 1: 11,255,390 (GRCm39) D1145A possibly damaging Het
Prop1 A C 11: 50,841,957 (GRCm39) Y150D possibly damaging Het
Prp2 AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC 6: 132,577,464 (GRCm39) probably benign Het
Psip1 T C 4: 83,378,735 (GRCm39) I353M probably damaging Het
Rapgef1 C A 2: 29,597,207 (GRCm39) probably null Het
Rgl1 G A 1: 152,397,114 (GRCm39) S684L probably benign Het
Sbf2 T A 7: 109,916,215 (GRCm39) D1552V probably damaging Het
Scpppq1 A C 5: 104,222,725 (GRCm39) probably null Het
Serpinh1 C T 7: 98,995,410 (GRCm39) V391M probably damaging Het
Slc35e4 A T 11: 3,857,960 (GRCm39) L215Q possibly damaging Het
Tbl3 TCTT TCTTCTT 17: 24,921,515 (GRCm39) probably benign Het
Tex15 T A 8: 34,066,705 (GRCm39) M2045K probably benign Het
Tmprss15 T C 16: 78,750,689 (GRCm39) *1070W probably null Het
Trav15-2-dv6-2 GAA GAACAA 14: 53,887,211 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGAG GGAGGAG 14: 53,887,208 (GRCm39) probably benign Het
Trim33 GCCCCGGCCCCCG GCCCCG 3: 103,187,528 (GRCm39) probably null Het
Triobp GACAA GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA 15: 78,851,261 (GRCm39) probably benign Het
Tub C A 7: 108,621,846 (GRCm39) Q95K probably benign Het
Usp9y T A Y: 1,435,046 (GRCm39) Q261L probably benign Het
Utp20 A T 10: 88,661,319 (GRCm39) D29E probably damaging Het
Vill G A 9: 118,889,507 (GRCm39) V148M probably damaging Het
Vmn2r120 C T 17: 57,828,991 (GRCm39) E535K possibly damaging Het
Zfp451 A T 1: 33,815,873 (GRCm39) Y692* probably null Het
Zfp599 A C 9: 22,165,180 (GRCm39) V65G probably benign Het
Zfp808 T C 13: 62,319,113 (GRCm39) V114A probably benign Het
Other mutations in Baiap2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGCAAGTATCCCTTTTCGAGATG -3'
(R):5'- CACAAATGGTGCCAGCTCAG -3'

Sequencing Primer
(F):5'- ATCCCTTTTCGAGATGCAAGG -3'
(R):5'- AGGGCTTGGCTCCAGGAATG -3'
Posted On 2019-12-04