Incidental Mutation 'R0276:Baiap3'
ID 35423
Institutional Source Beutler Lab
Gene Symbol Baiap3
Ensembl Gene ENSMUSG00000047507
Gene Name BAI1-associated protein 3
Synonyms LOC381076
MMRRC Submission 038498-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0276 (G1)
Quality Score 188
Status Validated
Chromosome 17
Chromosomal Location 25461633-25475255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25462661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 1099 (F1099C)
Ref Sequence ENSEMBL: ENSMUSP00000138254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038973] [ENSMUST00000063574] [ENSMUST00000115154] [ENSMUST00000169109] [ENSMUST00000182056] [ENSMUST00000182435] [ENSMUST00000182825]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000038973
SMART Domains Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:PRKCSH 69 152 1.4e-10 PFAM
DMAP_binding 176 278 2.55e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063574
SMART Domains Protein: ENSMUSP00000068511
Gene: ENSMUSG00000015126

DomainStartEndE-ValueType
Pfam:RLI 58 92 8.2e-17 PFAM
Pfam:DUF367 96 222 1.3e-56 PFAM
low complexity region 261 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115154
SMART Domains Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:PRKCSH 69 151 3.9e-11 PFAM
DMAP_binding 183 285 2.55e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169109
AA Change: F1112C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507
AA Change: F1112C

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 noncoding transcript
Transcript: ENSMUST00000175461
Predicted Effect probably damaging
Transcript: ENSMUST00000182056
AA Change: F1135C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507
AA Change: F1135C

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: F1107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507
AA Change: F1107C

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: F1099C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507
AA Change: F1099C

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 silent
Transcript: ENSMUST00000182696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182126
Meta Mutation Damage Score 0.3794 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.2%
  • 20x: 93.8%
Validation Efficiency 98% (101/103)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,865,772 (GRCm39) N109S possibly damaging Het
Adcy10 T A 1: 165,400,160 (GRCm39) M1523K possibly damaging Het
Agtpbp1 C T 13: 59,609,845 (GRCm39) S1095N possibly damaging Het
Ang2 C T 14: 51,432,975 (GRCm39) V136I probably damaging Het
Arhgap10 A T 8: 78,140,210 (GRCm39) M250K probably benign Het
Arhgap33 A T 7: 30,222,669 (GRCm39) W1088R probably benign Het
Arhgef15 T C 11: 68,844,298 (GRCm39) probably benign Het
Aspm T C 1: 139,406,209 (GRCm39) S1699P possibly damaging Het
Atp12a C A 14: 56,625,151 (GRCm39) D1014E probably damaging Het
Atp1a4 T A 1: 172,085,468 (GRCm39) K45M probably damaging Het
Atp8a1 A T 5: 67,944,016 (GRCm39) probably benign Het
Bcas3 T A 11: 85,361,663 (GRCm39) probably null Het
Bms1 G A 6: 118,385,095 (GRCm39) T371M possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Capn3 T C 2: 120,318,546 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,923,534 (GRCm39) D1105G probably damaging Het
Ccdc33 G T 9: 57,965,675 (GRCm39) P364Q probably damaging Het
Clstn3 A G 6: 124,408,699 (GRCm39) probably benign Het
Cntrl A T 2: 35,041,744 (GRCm39) Y619F possibly damaging Het
Col12a1 A T 9: 79,538,023 (GRCm39) Y2514* probably null Het
Cpt1b T C 15: 89,304,162 (GRCm39) H503R probably benign Het
Crb1 T A 1: 139,251,073 (GRCm39) T293S possibly damaging Het
D130043K22Rik C T 13: 25,042,028 (GRCm39) T319I possibly damaging Het
Dnaaf10 T C 11: 17,179,821 (GRCm39) I274T probably benign Het
Dzip1l G A 9: 99,543,051 (GRCm39) R502Q probably benign Het
Efcab5 A G 11: 77,020,702 (GRCm39) M673T probably damaging Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
F2rl3 A G 8: 73,489,426 (GRCm39) T218A probably benign Het
Fam135a C T 1: 24,107,045 (GRCm39) R31H probably damaging Het
Fcer2a A T 8: 3,739,811 (GRCm39) N53K possibly damaging Het
Golgb1 A C 16: 36,734,238 (GRCm39) K1162Q probably damaging Het
Gpr137b A T 13: 13,542,160 (GRCm39) probably benign Het
Haspin A T 11: 73,027,313 (GRCm39) L592Q probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Iho1 A T 9: 108,305,639 (GRCm39) M11K possibly damaging Het
Il17rb T A 14: 29,726,337 (GRCm39) T84S probably damaging Het
Itga4 T C 2: 79,151,837 (GRCm39) L880P probably damaging Het
Itih5 A G 2: 10,190,375 (GRCm39) I61V possibly damaging Het
Ivl G A 3: 92,478,821 (GRCm39) L415F unknown Het
Kif2a A G 13: 107,113,158 (GRCm39) probably benign Het
Kmt2d T C 15: 98,748,192 (GRCm39) probably benign Het
Lars2 A G 9: 123,267,186 (GRCm39) probably benign Het
Lilrb4a T C 10: 51,367,677 (GRCm39) V73A probably benign Het
Lratd2 G T 15: 60,695,523 (GRCm39) Y74* probably null Het
Lrrc8a A G 2: 30,146,800 (GRCm39) D538G possibly damaging Het
Lrrk1 G A 7: 65,946,011 (GRCm39) probably benign Het
Mc2r A T 18: 68,541,203 (GRCm39) I30K possibly damaging Het
Mybbp1a C A 11: 72,340,933 (GRCm39) probably null Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ncam2 A G 16: 81,314,517 (GRCm39) probably benign Het
Nlk T C 11: 78,462,301 (GRCm39) I509V probably benign Het
Nlrp2 A T 7: 5,331,108 (GRCm39) N429K probably benign Het
Nlrp9b A G 7: 19,762,423 (GRCm39) T247A probably benign Het
Noxo1 A T 17: 24,919,136 (GRCm39) probably null Het
Or1n1b A T 2: 36,780,035 (GRCm39) M275K probably benign Het
Or2ag2b A T 7: 106,417,904 (GRCm39) I205L probably benign Het
Or3a10 A G 11: 73,935,944 (GRCm39) I52T probably damaging Het
Or4c107 T A 2: 88,789,099 (GRCm39) C96* probably null Het
Or4m1 C A 14: 50,557,636 (GRCm39) A219S probably benign Het
Oxr1 T C 15: 41,683,458 (GRCm39) S294P probably damaging Het
Pfpl A G 19: 12,406,601 (GRCm39) Y284C probably damaging Het
Pi16 A T 17: 29,545,917 (GRCm39) T232S probably benign Het
Plcxd2 A T 16: 45,830,070 (GRCm39) N50K probably benign Het
Plekhn1 T A 4: 156,312,703 (GRCm39) N52Y probably damaging Het
Prl2c5 T C 13: 13,357,634 (GRCm39) probably benign Het
Prrc2b G A 2: 32,109,666 (GRCm39) V1080I probably damaging Het
Psg28 A T 7: 18,164,321 (GRCm39) N130K probably benign Het
Psme4 C A 11: 30,761,980 (GRCm39) T440K probably damaging Het
Ptcd2 T C 13: 99,458,104 (GRCm39) K296E probably benign Het
Ptprq T C 10: 107,378,596 (GRCm39) probably null Het
Rab5b A C 10: 128,522,615 (GRCm39) probably null Het
Rft1 T A 14: 30,412,540 (GRCm39) S534T probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rsu1 A T 2: 13,174,946 (GRCm39) probably benign Het
Senp6 A G 9: 80,044,029 (GRCm39) M887V probably benign Het
Sgcz T A 8: 38,420,073 (GRCm39) M60L probably benign Het
Siglec1 G A 2: 130,925,861 (GRCm39) Q282* probably null Het
Sipa1l2 T C 8: 126,148,679 (GRCm39) T1655A probably damaging Het
Slc28a2b T A 2: 122,352,409 (GRCm39) S389T probably damaging Het
Slc43a3 G A 2: 84,768,007 (GRCm39) probably benign Het
Snx29 T C 16: 11,556,237 (GRCm39) V756A probably benign Het
Spta1 T A 1: 174,045,460 (GRCm39) H1539Q probably damaging Het
Stk3 A C 15: 35,099,615 (GRCm39) S104A probably damaging Het
Stk38 C A 17: 29,211,390 (GRCm39) probably null Het
Stx6 T C 1: 155,049,909 (GRCm39) probably benign Het
Thbs4 G A 13: 92,912,040 (GRCm39) T230I probably benign Het
Thrsp A G 7: 97,066,709 (GRCm39) M1T probably null Het
Tmem63b A T 17: 45,986,299 (GRCm39) probably benign Het
Top2a A G 11: 98,900,733 (GRCm39) probably benign Het
Tpd52l2 T C 2: 181,143,852 (GRCm39) probably null Het
Trak1 A G 9: 121,283,404 (GRCm39) E390G probably damaging Het
Trappc3 T A 4: 126,167,745 (GRCm39) D101E possibly damaging Het
Trhr A G 15: 44,060,482 (GRCm39) M1V probably null Het
Triobp T A 15: 78,857,876 (GRCm39) I1159K probably benign Het
Unc45a A G 7: 79,976,045 (GRCm39) probably benign Het
Usb1 A G 8: 96,060,085 (GRCm39) D12G probably damaging Het
Ushbp1 C T 8: 71,847,293 (GRCm39) C113Y possibly damaging Het
Vim A G 2: 13,579,670 (GRCm39) K143R probably benign Het
Vmn2r75 T C 7: 85,797,515 (GRCm39) K766R probably benign Het
Xpo5 T G 17: 46,552,433 (GRCm39) C1089G 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
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
R5566:Baiap3 UTSW 17 25,470,707 (GRCm39) missense probably damaging 1.00
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'- GTCCTGAGAGCATATGACCACTGC -3'
(R):5'- GGCTGTCCACCAATGACTTTGCTG -3'

Sequencing Primer
(F):5'- AGCATATGACCACTGCTCTGG -3'
(R):5'- CATCAGTGGCATCGCAAG -3'
Posted On 2013-05-09