Incidental Mutation 'R5389:Baiap2'
ID 425486
Institutional Source Beutler Lab
Gene Symbol Baiap2
Ensembl Gene ENSMUSG00000025372
Gene Name brain-specific angiogenesis inhibitor 1-associated protein 2
Synonyms IRSp53
MMRRC Submission 042961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R5389 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 119833762-119897608 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119887496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 264 (S264P)
Ref Sequence ENSEMBL: ENSMUSP00000101838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026436] [ENSMUST00000075180] [ENSMUST00000103021] [ENSMUST00000106231] [ENSMUST00000106233]
AlphaFold Q8BKX1
Predicted Effect probably damaging
Transcript: ENSMUST00000026436
AA Change: S264P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026436
Gene: ENSMUSG00000025372
AA Change: S264P

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 probably damaging
Transcript: ENSMUST00000075180
AA Change: S264P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074674
Gene: ENSMUSG00000025372
AA Change: S264P

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 probably damaging
Transcript: ENSMUST00000103021
AA Change: S264P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099310
Gene: ENSMUSG00000025372
AA Change: S264P

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 probably damaging
Transcript: ENSMUST00000106231
AA Change: S264P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101838
Gene: ENSMUSG00000025372
AA Change: S264P

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 probably benign
Transcript: ENSMUST00000106233
AA Change: S264P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101840
Gene: ENSMUSG00000025372
AA Change: S264P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131580
Meta Mutation Damage Score 0.0624 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (65/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,638,795 (GRCm39) V398A probably benign Het
A430033K04Rik T A 5: 138,644,559 (GRCm39) V148E probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Ankrd26 T A 6: 118,485,536 (GRCm39) Q1446L possibly damaging Het
Anks6 A T 4: 47,038,900 (GRCm39) probably benign Het
Arrb2 T C 11: 70,329,484 (GRCm39) S265P probably damaging Het
Cadps2 A G 6: 23,329,103 (GRCm39) V938A probably damaging Het
Cavin4 G T 4: 48,663,907 (GRCm39) V96F probably damaging Het
Cenpe T C 3: 134,965,149 (GRCm39) probably null Het
Crocc2 C A 1: 93,143,363 (GRCm39) Q1322K probably benign Het
Cryzl2 T A 1: 157,289,546 (GRCm39) C61* probably null Het
Dazl T C 17: 50,595,718 (GRCm39) I56V probably benign Het
Dnah12 A T 14: 26,456,904 (GRCm39) D890V probably damaging Het
Dnah9 C A 11: 65,986,140 (GRCm39) E1165* probably null Het
Dnmt3l T A 10: 77,892,665 (GRCm39) probably null Het
Elp2 A G 18: 24,739,960 (GRCm39) N62S possibly damaging Het
Entr1 T C 2: 26,275,559 (GRCm39) D244G probably damaging Het
Fam216b T A 14: 78,322,503 (GRCm39) H26L possibly damaging Het
Fbxw25 T A 9: 109,481,954 (GRCm39) Q244L possibly damaging Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Gvin3 T C 7: 106,197,442 (GRCm39) noncoding transcript Het
Igf2r T C 17: 12,944,303 (GRCm39) Y400C probably damaging Het
Iqcc A G 4: 129,512,413 (GRCm39) F20L probably benign Het
Klhl5 T A 5: 65,298,625 (GRCm39) L135M possibly damaging Het
Klk1b16 A T 7: 43,790,412 (GRCm39) M196L possibly damaging Het
Ltf T C 9: 110,858,719 (GRCm39) M489T possibly damaging Het
Mctp2 G T 7: 71,863,835 (GRCm39) R343S possibly damaging Het
Nbas T A 12: 13,584,578 (GRCm39) probably null Het
Ncr1 A T 7: 4,343,932 (GRCm39) M177L probably benign Het
Net1 C T 13: 3,936,170 (GRCm39) E305K probably damaging Het
Nfx1 T C 4: 40,985,000 (GRCm39) F375L probably damaging Het
Notch3 T A 17: 32,358,163 (GRCm39) I1687L probably benign Het
Obsl1 A T 1: 75,479,905 (GRCm39) probably benign Het
Or2ag16 A T 7: 106,352,290 (GRCm39) F102I probably damaging Het
Or2t46 C G 11: 58,471,825 (GRCm39) L52V possibly damaging Het
Or51v14 G T 7: 103,260,797 (GRCm39) Y254* probably null Het
Or5g23 A G 2: 85,438,627 (GRCm39) F209S probably benign Het
Or5j3 G A 2: 86,128,561 (GRCm39) V134M possibly damaging Het
Or5p79 A C 7: 108,221,924 (GRCm39) I302L probably damaging Het
Orai1 A T 5: 123,167,564 (GRCm39) M246L probably benign Het
Pcdhga12 G A 18: 37,899,785 (GRCm39) A206T probably damaging Het
Plxdc2 C A 2: 16,654,998 (GRCm39) T199K probably damaging Het
Prkd1 T A 12: 50,389,920 (GRCm39) I819F probably damaging Het
Ptpn9 T C 9: 56,964,121 (GRCm39) probably benign Het
Rabl6 T C 2: 25,478,666 (GRCm39) E255G probably damaging Het
Sema3e T C 5: 14,286,099 (GRCm39) probably benign Het
Serpina3c T C 12: 104,115,699 (GRCm39) M282V possibly damaging Het
Slco1a7 A G 6: 141,686,193 (GRCm39) F216L probably benign Het
Slco2b1 A G 7: 99,335,132 (GRCm39) I216T probably damaging Het
Slco6b1 T C 1: 96,916,309 (GRCm39) noncoding transcript Het
Slco6d1 A T 1: 98,371,369 (GRCm39) I285F probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Sp9 C A 2: 73,104,641 (GRCm39) N398K probably damaging Het
Sycp2 A C 2: 178,019,495 (GRCm39) probably null Het
Tbc1d23 T C 16: 57,019,291 (GRCm39) D219G probably damaging Het
Tdpoz3 A G 3: 93,734,179 (GRCm39) R285G probably benign Het
Trim2 T A 3: 84,074,960 (GRCm39) Q694L probably null Het
Trim23 T A 13: 104,328,541 (GRCm39) V293D probably damaging Het
Ttn A G 2: 76,665,183 (GRCm39) probably benign Het
Vmn2r12 T A 5: 109,238,261 (GRCm39) Y493F probably benign Het
Vps41 T A 13: 19,046,708 (GRCm39) I753N probably damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Yme1l1 G A 2: 23,083,246 (GRCm39) G571R probably damaging Het
Zfp322a A T 13: 23,541,149 (GRCm39) C198S probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACACCTATGGACTGTGCCTG -3'
(R):5'- ACATTCTCCTGAGCAGACATCC -3'

Sequencing Primer
(F):5'- TATGGACTGTGCCTGCAGGAC -3'
(R):5'- TGAGCAGACATCCGCTGGAG -3'
Posted On 2016-08-04