Incidental Mutation 'R7037:Baiap3'
ID 546795
Institutional Source Beutler Lab
Gene Symbol Baiap3
Ensembl Gene ENSMUSG00000047507
Gene Name BAI1-associated protein 3
Synonyms LOC381076
MMRRC Submission 045137-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7037 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25461633-25475255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25462814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1075 (R1075C)
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
SMART Domains Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507
AA Change: R1088C

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 benign
Transcript: ENSMUST00000182056
AA Change: R1111C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507
AA Change: R1111C

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 benign
Transcript: ENSMUST00000182435
AA Change: R1083C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507
AA Change: R1083C

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 benign
Transcript: ENSMUST00000182696
Predicted Effect probably benign
Transcript: ENSMUST00000182825
AA Change: R1075C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507
AA Change: R1075C

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,367,266 (GRCm39) N33I probably damaging Het
Ahnak2 A T 12: 112,740,712 (GRCm39) V314D probably damaging Het
Arl14epl T G 18: 47,065,510 (GRCm39) C92G probably benign Het
Atp6v1h T A 1: 5,220,215 (GRCm39) M423K possibly damaging Het
Baz2b C T 2: 59,764,014 (GRCm39) probably null Het
Bicral T C 17: 47,135,560 (GRCm39) H550R probably benign Het
C1rl A G 6: 124,485,598 (GRCm39) Y323C probably damaging Het
Ccr9 T A 9: 123,609,036 (GRCm39) H239Q possibly damaging Het
Cdh16 T A 8: 105,344,267 (GRCm39) R91* probably null Het
Coro1c A G 5: 113,983,457 (GRCm39) F357S possibly damaging Het
Cpsf4 G A 5: 145,112,939 (GRCm39) R141Q possibly damaging Het
Cryzl2 G A 1: 157,298,318 (GRCm39) V236I probably damaging Het
Cttnbp2 T C 6: 18,435,117 (GRCm39) E247G probably damaging Het
Dbr1 T A 9: 99,458,621 (GRCm39) probably null Het
Dclk1 T C 3: 55,370,469 (GRCm39) S23P probably damaging Het
Dpyd A T 3: 118,692,938 (GRCm39) I361F probably benign Het
Elac2 A G 11: 64,874,537 (GRCm39) E218G probably benign Het
Eml4 T A 17: 83,732,756 (GRCm39) D136E probably benign Het
Foxred1 A T 9: 35,118,844 (GRCm39) S223T probably benign Het
Garin5b G T 7: 4,761,584 (GRCm39) probably benign Het
Gask1a G T 9: 121,794,592 (GRCm39) V249L possibly damaging Het
Gm11595 A G 11: 99,663,474 (GRCm39) C69R unknown Het
Gna14 A T 19: 16,511,128 (GRCm39) H59L Het
H2-Ab1 T A 17: 34,486,963 (GRCm39) I239N probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Itgb4 T A 11: 115,896,391 (GRCm39) Y1379* probably null Het
Kank1 A G 19: 25,407,705 (GRCm39) D1233G probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lrrc66 A T 5: 73,764,504 (GRCm39) D846E probably benign Het
Lyst A G 13: 13,791,251 (GRCm39) H38R probably damaging Het
Mc3r T C 2: 172,091,554 (GRCm39) F259L probably damaging Het
Med25 A G 7: 44,532,206 (GRCm39) Y384H probably damaging Het
Met A T 6: 17,547,127 (GRCm39) probably benign Het
Mmp16 T C 4: 18,116,148 (GRCm39) V584A possibly damaging Het
Mrgprb3 A G 7: 48,292,942 (GRCm39) L203P probably damaging Het
Mus81 A G 19: 5,536,108 (GRCm39) L185P probably damaging Het
Naaa A G 5: 92,424,934 (GRCm39) V75A possibly damaging Het
Obscn T A 11: 58,934,755 (GRCm39) T5292S probably damaging Het
Obscn T C 11: 58,943,430 (GRCm39) S4801G probably damaging Het
Or2ag19 T C 7: 106,444,543 (GRCm39) S242P probably damaging Het
Otof T C 5: 30,538,882 (GRCm39) D1112G probably benign Het
Pals1 T A 12: 78,843,973 (GRCm39) I59N probably damaging Het
Pbx4 A G 8: 70,317,525 (GRCm39) R170G probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plce1 A T 19: 38,690,461 (GRCm39) D715V probably damaging Het
Pms1 T C 1: 53,246,770 (GRCm39) T311A possibly damaging Het
Popdc2 A G 16: 38,194,629 (GRCm39) D350G probably damaging Het
Prex1 A G 2: 166,429,100 (GRCm39) V661A probably benign Het
Ptbp2 A G 3: 119,545,557 (GRCm39) Y130H probably damaging Het
Rev3l C T 10: 39,727,971 (GRCm39) R2707W probably damaging Het
Rpl37 G A 15: 5,147,185 (GRCm39) R75K probably null Het
Ryr3 T A 2: 112,779,475 (GRCm39) R259* probably null Het
Scai A T 2: 39,080,633 (GRCm39) S8T probably benign Het
Scn4a C A 11: 106,211,726 (GRCm39) L1430F probably damaging Het
Sema5a A G 15: 32,686,993 (GRCm39) K1035R probably damaging Het
Siah3 A G 14: 75,763,025 (GRCm39) H92R probably benign Het
Smc4 G A 3: 68,925,528 (GRCm39) V342I possibly damaging Het
Spata31d1a C T 13: 59,848,138 (GRCm39) C1330Y possibly damaging Het
St18 C A 1: 6,873,260 (GRCm39) H332N possibly damaging Het
Sycp1 T A 3: 102,806,250 (GRCm39) E480D possibly damaging Het
Tex14 A T 11: 87,388,741 (GRCm39) I323F probably damaging Het
Tm7sf2 A T 19: 6,114,107 (GRCm39) probably null Het
Tmem241 G T 18: 12,246,463 (GRCm39) H62Q probably benign Het
Tmem54 T A 4: 129,004,594 (GRCm39) probably null Het
Tomm34 A G 2: 163,912,398 (GRCm39) L39P probably damaging Het
Triml2 T A 8: 43,646,573 (GRCm39) V354D probably damaging Het
Usp19 T C 9: 108,374,157 (GRCm39) I738T possibly damaging Het
Utp25 A C 1: 192,803,031 (GRCm39) probably null Het
Utrn T A 10: 12,702,514 (GRCm39) probably null Het
Zfp1005 G T 2: 150,108,376 (GRCm39) V46F possibly 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
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
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'- ACTATGACCATCAAGGCGCTC -3'
(R):5'- CGATGAACTCTTCCACTTGTGAG -3'

Sequencing Primer
(F):5'- ATCAAGGCGCTCAGAGGTC -3'
(R):5'- ACTTGTGAGTGCCTGCC -3'
Posted On 2019-05-13