Incidental Mutation 'R5566:Baiap3'
ID 501209
Institutional Source Beutler Lab
Gene Symbol Baiap3
Ensembl Gene ENSMUSG00000047507
Gene Name BAI1-associated protein 3
Synonyms LOC381076
MMRRC Submission 043123-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5566 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 25461633-25475255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25470707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 71 (E71G)
Ref Sequence ENSEMBL: ENSMUSP00000138254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169109] [ENSMUST00000182056] [ENSMUST00000182435] [ENSMUST00000182825]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000169109
AA Change: E71G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507
AA Change: E71G

DomainStartEndE-ValueType
C2 159 328 4.73e-17 SMART
low complexity region 361 379 N/A INTRINSIC
low complexity region 434 445 N/A INTRINSIC
low complexity region 497 509 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
low complexity region 857 868 N/A INTRINSIC
Pfam:Membr_traf_MHD 896 958 8e-10 PFAM
C2 989 1097 7.06e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182056
AA Change: E71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507
AA Change: E71G

DomainStartEndE-ValueType
C2 159 328 4.73e-17 SMART
low complexity region 361 379 N/A INTRINSIC
low complexity region 434 445 N/A INTRINSIC
low complexity region 497 509 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
Pfam:Membr_traf_MHD 851 959 3.3e-30 PFAM
C2 989 1097 7.06e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182435
AA Change: E71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507
AA Change: E71G

DomainStartEndE-ValueType
C2 131 300 4.73e-17 SMART
low complexity region 333 351 N/A INTRINSIC
low complexity region 406 417 N/A INTRINSIC
low complexity region 469 481 N/A INTRINSIC
low complexity region 664 676 N/A INTRINSIC
Pfam:Membr_traf_MHD 823 931 3.2e-30 PFAM
C2 961 1069 7.06e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182825
AA Change: E71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507
AA Change: E71G

DomainStartEndE-ValueType
C2 159 284 4.05e-16 SMART
low complexity region 325 343 N/A INTRINSIC
low complexity region 398 409 N/A INTRINSIC
low complexity region 461 473 N/A INTRINSIC
low complexity region 656 668 N/A INTRINSIC
Pfam:Membr_traf_MHD 815 923 3.2e-30 PFAM
C2 953 1061 7.06e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182978
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 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.] This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile but exhibit increased PTZ-induced seizure propensity, as well as increased novelty-induced anxiety in both genders, with a more pronounced effect in females, and a faster developmentof tolerance to benzodiazepines in male mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,244,615 (GRCm39) Y2159* probably null Het
Abca3 A G 17: 24,602,901 (GRCm39) T499A probably benign Het
Abcb5 T A 12: 118,899,702 (GRCm39) T322S probably damaging Het
Adamts4 T A 1: 171,078,419 (GRCm39) M1K probably null Het
Adamtsl4 C T 3: 95,592,765 (GRCm39) probably null Het
Adh4 A T 3: 138,129,950 (GRCm39) I259F probably damaging Het
Aff3 G A 1: 38,220,505 (GRCm39) S1135F probably damaging Het
Arhgef16 T C 4: 154,370,105 (GRCm39) D280G probably benign Het
Calb2 A G 8: 110,879,332 (GRCm39) I91T possibly damaging Het
Ccr5 A G 9: 123,924,697 (GRCm39) N100S probably benign Het
Cep57 G T 9: 13,732,871 (GRCm39) R25S probably damaging Het
Chadl A G 15: 81,580,079 (GRCm39) L52P probably damaging Het
Clec12b T C 6: 129,362,438 (GRCm39) T6A probably damaging Het
Cnga1 T A 5: 72,775,593 (GRCm39) N43Y probably damaging Het
Col20a1 A T 2: 180,628,316 (GRCm39) probably null Het
Csmd2 T C 4: 128,356,682 (GRCm39) probably null Het
Ctps1 A T 4: 120,411,300 (GRCm39) probably null Het
Cyp39a1 T A 17: 43,996,099 (GRCm39) W224R possibly damaging Het
Defb29 A T 2: 152,380,848 (GRCm39) Y54N probably benign Het
Dmbt1 A T 7: 130,708,003 (GRCm39) D1241V probably damaging Het
Dnah1 A T 14: 30,996,323 (GRCm39) I2671K probably benign Het
Dnah2 C A 11: 69,407,395 (GRCm39) E158* probably null Het
Dynlt2b A G 16: 32,238,718 (GRCm39) Y31C probably damaging Het
Edar A G 10: 58,464,463 (GRCm39) S59P possibly damaging Het
Egr2 T A 10: 67,376,596 (GRCm39) C339* probably null Het
Eif5b G A 1: 38,084,765 (GRCm39) V871I possibly damaging Het
Eif5b G A 1: 38,090,328 (GRCm39) G1169E probably damaging Het
Erap1 A G 13: 74,810,531 (GRCm39) Y290C probably damaging Het
Fastkd5 T A 2: 130,456,221 (GRCm39) T790S possibly damaging Het
Fkrp C T 7: 16,544,849 (GRCm39) V338M probably damaging Het
Gabra6 T C 11: 42,198,317 (GRCm39) T378A probably benign Het
Gm4924 C A 10: 82,214,475 (GRCm39) Q17K possibly damaging Het
Gm9847 A G 12: 14,545,000 (GRCm39) noncoding transcript Het
Gpr108 A G 17: 57,543,919 (GRCm39) F429S probably damaging Het
Gpr162 G A 6: 124,837,901 (GRCm39) R250* probably null Het
Gtf2a1 A T 12: 91,534,368 (GRCm39) D295E possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Herc1 T A 9: 66,372,819 (GRCm39) M3125K possibly damaging Het
Hoxb6 T A 11: 96,191,580 (GRCm39) Y167* probably null Het
Hrob T A 11: 102,146,659 (GRCm39) S312T probably damaging Het
Htt T C 5: 35,006,419 (GRCm39) Y1443H probably damaging Het
Il21r A G 7: 125,224,470 (GRCm39) D28G probably damaging Het
Impact T G 18: 13,107,819 (GRCm39) V29G probably damaging Het
Itpr3 A G 17: 27,334,926 (GRCm39) T2147A possibly damaging Het
Itsn2 T A 12: 4,676,554 (GRCm39) L50Q probably damaging Het
Jade1 A G 3: 41,559,338 (GRCm39) D473G possibly damaging Het
Kif26a T G 12: 112,123,788 (GRCm39) L131R probably damaging Het
Kif2a A T 13: 107,130,432 (GRCm39) M1K probably null Het
Lrsam1 C A 2: 32,831,870 (GRCm39) Q368H probably damaging Het
Macf1 T C 4: 123,328,957 (GRCm39) Q4592R probably damaging Het
Map3k5 T C 10: 19,986,465 (GRCm39) V893A probably damaging Het
Med13l G T 5: 118,866,730 (GRCm39) V595F possibly damaging Het
Mocs1 T A 17: 49,761,211 (GRCm39) L435Q possibly damaging Het
Mtmr4 T C 11: 87,495,356 (GRCm39) L471P probably damaging Het
Myo7a T C 7: 97,714,023 (GRCm39) E1616G possibly damaging Het
Nacad T A 11: 6,552,136 (GRCm39) S352C probably damaging Het
Nfat5 T A 8: 108,095,767 (GRCm39) M817K possibly damaging Het
Ofcc1 C A 13: 40,248,129 (GRCm39) L668F probably damaging Het
Or12j2 C A 7: 139,915,980 (GRCm39) D68E probably damaging Het
Or7e178 T C 9: 20,225,265 (GRCm39) Q309R probably benign Het
Or8j3c G A 2: 86,253,721 (GRCm39) Q100* probably null Het
Plxnb2 T C 15: 89,048,223 (GRCm39) T696A probably benign Het
Prkab2 T A 3: 97,569,609 (GRCm39) F58L probably benign Het
Prpf4 G T 4: 62,334,206 (GRCm39) L220F probably benign Het
Rad18 A T 6: 112,658,307 (GRCm39) D199E probably benign Het
Raet1e T C 10: 22,050,304 (GRCm39) L29P probably damaging Het
Ralgapb A C 2: 158,336,630 (GRCm39) T1089P possibly damaging Het
Rest A G 5: 77,430,173 (GRCm39) E864G probably benign Het
Rgsl1 T A 1: 153,669,520 (GRCm39) I289F probably damaging Het
Rint1 T C 5: 24,015,951 (GRCm39) Y406H probably damaging Het
Rmc1 T C 18: 12,313,749 (GRCm39) I26T possibly damaging Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Scn8a T C 15: 100,872,415 (GRCm39) S485P probably damaging Het
Slamf1 T A 1: 171,615,538 (GRCm39) V249E possibly damaging Het
Slc39a12 C T 2: 14,412,414 (GRCm39) T362I possibly damaging Het
Sos1 C T 17: 80,761,319 (GRCm39) V126I possibly damaging Het
Srcap T C 7: 127,124,475 (GRCm39) F215S probably damaging Het
Supt4a T A 11: 87,634,113 (GRCm39) S110T probably benign Het
Tbc1d30 T A 10: 121,138,015 (GRCm39) T232S probably damaging Het
Tenm3 A G 8: 48,732,041 (GRCm39) C1288R probably damaging Het
Tespa1 T A 10: 130,191,356 (GRCm39) L100* probably null Het
Tgm1 C A 14: 55,949,893 (GRCm39) R105L probably damaging Het
Tgoln1 G A 6: 72,593,018 (GRCm39) T154I possibly damaging Het
Trp53i13 G A 11: 77,399,552 (GRCm39) T259I probably damaging Het
Tubgcp4 T A 2: 121,015,251 (GRCm39) F320I possibly damaging Het
Tut7 A T 13: 59,936,443 (GRCm39) C817* probably null Het
Vmn1r21 A C 6: 57,821,079 (GRCm39) Y122D probably benign Het
Vmn1r75 T A 7: 11,614,407 (GRCm39) D46E probably damaging Het
Vmn2r120 A T 17: 57,852,290 (GRCm39) L9M possibly damaging Het
Vmn2r59 A G 7: 41,696,247 (GRCm39) I165T possibly damaging Het
Vmn2r76 A T 7: 85,875,286 (GRCm39) Y564N probably damaging Het
Wee1 G T 7: 109,725,257 (GRCm39) E300* probably null Het
Xdh T C 17: 74,200,617 (GRCm39) D1168G probably damaging Het
Zfp54 A G 17: 21,653,706 (GRCm39) T67A probably damaging Het
Zfp941 G T 7: 140,392,679 (GRCm39) H227N probably benign Het
Zpr1 T A 9: 46,192,373 (GRCm39) V399D possibly damaging Het
Zzz3 A G 3: 152,161,461 (GRCm39) E285G probably damaging Het
Other mutations in Baiap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Baiap3 APN 17 25,463,302 (GRCm39) missense probably damaging 1.00
IGL00486:Baiap3 APN 17 25,467,351 (GRCm39) splice site probably benign
IGL00820:Baiap3 APN 17 25,467,664 (GRCm39) missense probably benign 0.20
IGL01443:Baiap3 APN 17 25,464,121 (GRCm39) missense possibly damaging 0.92
IGL02282:Baiap3 APN 17 25,468,351 (GRCm39) missense probably benign 0.11
IGL02341:Baiap3 APN 17 25,467,290 (GRCm39) missense possibly damaging 0.52
IGL02669:Baiap3 APN 17 25,463,322 (GRCm39) missense probably damaging 1.00
IGL02863:Baiap3 APN 17 25,463,476 (GRCm39) splice site probably benign
IGL02993:Baiap3 APN 17 25,469,056 (GRCm39) critical splice donor site probably null
R0021:Baiap3 UTSW 17 25,462,643 (GRCm39) missense probably damaging 1.00
R0090:Baiap3 UTSW 17 25,469,044 (GRCm39) splice site probably benign
R0276:Baiap3 UTSW 17 25,462,661 (GRCm39) missense probably damaging 1.00
R0488:Baiap3 UTSW 17 25,467,444 (GRCm39) critical splice donor site probably null
R0826:Baiap3 UTSW 17 25,464,203 (GRCm39) missense possibly damaging 0.89
R0883:Baiap3 UTSW 17 25,468,075 (GRCm39) missense probably damaging 1.00
R1700:Baiap3 UTSW 17 25,468,302 (GRCm39) missense probably damaging 1.00
R1702:Baiap3 UTSW 17 25,463,779 (GRCm39) missense probably damaging 1.00
R2336:Baiap3 UTSW 17 25,469,378 (GRCm39) missense probably damaging 1.00
R2762:Baiap3 UTSW 17 25,463,549 (GRCm39) missense probably damaging 1.00
R4454:Baiap3 UTSW 17 25,468,510 (GRCm39) missense probably damaging 1.00
R4540:Baiap3 UTSW 17 25,465,644 (GRCm39) missense probably damaging 1.00
R4609:Baiap3 UTSW 17 25,469,235 (GRCm39) missense probably damaging 1.00
R4816:Baiap3 UTSW 17 25,466,269 (GRCm39) splice site probably benign
R4979:Baiap3 UTSW 17 25,465,336 (GRCm39) missense possibly damaging 0.57
R5069:Baiap3 UTSW 17 25,468,082 (GRCm39) missense probably damaging 0.99
R5070:Baiap3 UTSW 17 25,468,082 (GRCm39) missense probably damaging 0.99
R5093:Baiap3 UTSW 17 25,469,243 (GRCm39) missense probably damaging 1.00
R5130:Baiap3 UTSW 17 25,464,316 (GRCm39) missense probably benign 0.01
R5572:Baiap3 UTSW 17 25,470,449 (GRCm39) missense possibly damaging 0.86
R5681:Baiap3 UTSW 17 25,468,347 (GRCm39) missense probably damaging 1.00
R5730:Baiap3 UTSW 17 25,466,498 (GRCm39) missense probably benign 0.01
R5743:Baiap3 UTSW 17 25,463,759 (GRCm39) missense probably benign 0.02
R5805:Baiap3 UTSW 17 25,466,489 (GRCm39) missense probably benign 0.12
R6038:Baiap3 UTSW 17 25,465,308 (GRCm39) missense probably damaging 1.00
R6038:Baiap3 UTSW 17 25,465,308 (GRCm39) missense probably damaging 1.00
R6052:Baiap3 UTSW 17 25,467,444 (GRCm39) critical splice donor site probably benign
R6238:Baiap3 UTSW 17 25,464,732 (GRCm39) missense probably benign 0.00
R6700:Baiap3 UTSW 17 25,463,000 (GRCm39) missense probably damaging 1.00
R7037:Baiap3 UTSW 17 25,462,814 (GRCm39) missense probably benign
R7038:Baiap3 UTSW 17 25,462,814 (GRCm39) missense probably benign
R7039:Baiap3 UTSW 17 25,462,814 (GRCm39) missense probably benign
R7126:Baiap3 UTSW 17 25,464,119 (GRCm39) missense possibly damaging 0.64
R7198:Baiap3 UTSW 17 25,462,814 (GRCm39) missense probably benign
R7223:Baiap3 UTSW 17 25,462,814 (GRCm39) missense probably benign
R7291:Baiap3 UTSW 17 25,463,291 (GRCm39) missense probably damaging 1.00
R7438:Baiap3 UTSW 17 25,468,082 (GRCm39) missense possibly damaging 0.91
R7687:Baiap3 UTSW 17 25,468,311 (GRCm39) missense possibly damaging 0.88
R7877:Baiap3 UTSW 17 25,470,112 (GRCm39) missense probably damaging 0.99
R8172:Baiap3 UTSW 17 25,463,096 (GRCm39) missense probably damaging 1.00
R8184:Baiap3 UTSW 17 25,467,499 (GRCm39) missense probably benign 0.00
R8230:Baiap3 UTSW 17 25,465,827 (GRCm39) missense probably benign 0.00
R8240:Baiap3 UTSW 17 25,464,288 (GRCm39) critical splice donor site probably null
R8394:Baiap3 UTSW 17 25,469,096 (GRCm39) missense probably benign
R8972:Baiap3 UTSW 17 25,466,010 (GRCm39) missense probably benign 0.04
R9274:Baiap3 UTSW 17 25,463,354 (GRCm39) missense probably damaging 0.96
R9333:Baiap3 UTSW 17 25,467,676 (GRCm39) missense possibly damaging 0.54
R9388:Baiap3 UTSW 17 25,466,109 (GRCm39) critical splice donor site probably null
X0017:Baiap3 UTSW 17 25,467,324 (GRCm39) missense possibly damaging 0.92
Z1176:Baiap3 UTSW 17 25,463,742 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TGAAGATCTCTGATGGCAGGTG -3'
(R):5'- GCTGTTCACTGCCAATTCAG -3'

Sequencing Primer
(F):5'- AGGTGAGGCCCCTTAGTCTG -3'
(R):5'- GTGGGAAGGGATCTGAACTC -3'
Posted On 2017-12-01