Incidental Mutation 'R7223:Baiap3'
ID 561982
Institutional Source Beutler Lab
Gene Symbol Baiap3
Ensembl Gene ENSMUSG00000047507
Gene Name BAI1-associated protein 3
Synonyms LOC381076
MMRRC Submission 045295-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7223 (G1)
Quality Score 225.009
Status Not 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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,104,487 (GRCm39) V733E probably benign Het
Adam34 A T 8: 44,105,041 (GRCm39) N201K probably benign Het
Aldh3b2 A C 19: 4,029,592 (GRCm39) S322R probably damaging Het
Anpep A T 7: 79,475,058 (GRCm39) L914Q probably damaging Het
Arhgap30 T C 1: 171,235,139 (GRCm39) F535S probably damaging Het
Baz2a G T 10: 127,948,475 (GRCm39) G252V probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Carmil3 T C 14: 55,733,695 (GRCm39) F359S possibly damaging Het
Ccdc124 A T 8: 71,321,170 (GRCm39) L190Q probably damaging Het
Ccr6 T C 17: 8,474,972 (GRCm39) V59A probably damaging Het
Ccr8 T A 9: 119,923,683 (GRCm39) I266N probably damaging Het
Cdh23 T A 10: 60,167,596 (GRCm39) E1798V probably damaging Het
Cdk5rap2 T C 4: 70,153,684 (GRCm39) N1713S probably benign Het
Cep19 T A 16: 31,922,833 (GRCm39) I33N probably damaging Het
Cers3 A T 7: 66,433,163 (GRCm39) Y196F probably damaging Het
Cidea T C 18: 67,499,491 (GRCm39) I126T probably damaging Het
Copg2 A T 6: 30,789,689 (GRCm39) Y546* probably null Het
Cul3 A T 1: 80,264,717 (GRCm39) V261E probably benign Het
Cyp2g1 A T 7: 26,514,057 (GRCm39) D221V probably damaging Het
Cyp8b1 G A 9: 121,744,163 (GRCm39) H390Y probably damaging Het
Daam1 T C 12: 72,035,717 (GRCm39) F971L probably damaging Het
Dnajc24 G A 2: 105,832,311 (GRCm39) S24L possibly damaging Het
Dpysl3 T C 18: 43,571,107 (GRCm39) S56G probably benign Het
Esp1 A G 17: 41,041,972 (GRCm39) D88G probably benign Het
Fam171b A G 2: 83,708,574 (GRCm39) T359A probably damaging Het
Fam186b T C 15: 99,177,718 (GRCm39) E536G possibly damaging Het
Fbxo3 T C 2: 103,873,357 (GRCm39) V156A possibly damaging Het
Gls2 C A 10: 128,035,063 (GRCm39) H65Q probably benign Het
Gp2 A G 7: 119,050,721 (GRCm39) probably null Het
Gpcpd1 T A 2: 132,375,976 (GRCm39) K435I probably benign Het
Gpx6 T A 13: 21,501,840 (GRCm39) probably null Het
Hps3 A T 3: 20,084,583 (GRCm39) S202T probably benign Het
Htr1d T A 4: 136,170,812 (GRCm39) L347H probably damaging Het
Igfals T C 17: 25,100,208 (GRCm39) L433P probably damaging Het
Ilvbl C T 10: 78,419,530 (GRCm39) H537Y probably benign Het
Iqgap2 A T 13: 95,765,480 (GRCm39) M1530K probably damaging Het
Jarid2 A G 13: 45,049,798 (GRCm39) T247A possibly damaging Het
L3hypdh C T 12: 72,120,783 (GRCm39) V323I possibly damaging Het
Lama3 C T 18: 12,715,665 (GRCm39) T1707I possibly damaging Het
Map6 G T 7: 98,917,232 (GRCm39) A2S probably damaging Het
Mfap3 T A 11: 57,421,066 (GRCm39) I349K probably benign Het
Mybl2 A G 2: 162,914,625 (GRCm39) T248A probably benign Het
N6amt1 A G 16: 87,159,548 (GRCm39) *151W probably null Het
Nhlrc1 A G 13: 47,167,684 (GRCm39) V191A probably benign Het
Nkx2-5 T C 17: 27,058,594 (GRCm39) E120G possibly damaging Het
Or2y10 T A 11: 49,454,925 (GRCm39) M59K probably damaging Het
Or52r1b C A 7: 102,690,839 (GRCm39) T46N possibly damaging Het
Or8b41 T C 9: 38,055,049 (GRCm39) V201A probably benign Het
Or8k28 T A 2: 86,286,211 (GRCm39) I135F possibly damaging Het
Pcdha8 T G 18: 37,126,201 (GRCm39) L228V probably benign Het
Pcsk2 A G 2: 143,532,253 (GRCm39) T134A possibly damaging Het
Phldb3 G A 7: 24,324,078 (GRCm39) R484Q probably benign Het
Pipox A G 11: 77,772,012 (GRCm39) S371P probably damaging Het
Plekhg1 T C 10: 3,823,343 (GRCm39) S159P Het
Psme4 C T 11: 30,824,226 (GRCm39) P1737S probably benign Het
Pygm G A 19: 6,438,893 (GRCm39) D328N probably benign Het
Rabgef1 A T 5: 130,219,801 (GRCm39) E88V probably benign Het
Rims2 G T 15: 39,300,428 (GRCm39) R245L probably benign Het
Slc38a4 T C 15: 96,908,226 (GRCm39) I172V probably damaging Het
Slc4a10 T A 2: 62,099,009 (GRCm39) Y586N probably damaging Het
Snap91 C T 9: 86,761,610 (GRCm39) probably benign Het
Sorcs1 C T 19: 50,178,480 (GRCm39) V881I probably benign Het
Spef2 A T 15: 9,601,726 (GRCm39) V1512E unknown Het
Sufu T C 19: 46,441,716 (GRCm39) I292T possibly damaging Het
Tet1 T C 10: 62,649,450 (GRCm39) N87D possibly damaging Het
Tmem108 T C 9: 103,376,733 (GRCm39) T239A not run Het
Tmem121 A T 12: 113,152,114 (GRCm39) K111* probably null Het
Tpp2 T A 1: 44,008,048 (GRCm39) D417E probably damaging Het
Tpr G A 1: 150,315,007 (GRCm39) E2025K possibly damaging Het
Trappc3 C T 4: 126,168,945 (GRCm39) A145V possibly damaging Het
Ttn T C 2: 76,721,325 (GRCm39) D6754G probably null Het
Unc13c T A 9: 73,536,473 (GRCm39) M1627L probably benign Het
Ush2a A G 1: 188,542,414 (GRCm39) I3327V probably benign Het
Vmn1r74 C T 7: 11,580,894 (GRCm39) Q65* probably null Het
Wdr18 G A 10: 79,796,202 (GRCm39) R69H probably damaging Het
Zbed5 G T 5: 129,929,279 (GRCm39) D132Y probably damaging Het
Zfp644 A T 5: 106,785,448 (GRCm39) Y366* probably null Het
Zfyve26 T C 12: 79,292,945 (GRCm39) N2068S probably damaging Het
Zic2 T C 14: 122,713,503 (GRCm39) F139S probably damaging Het
Zmynd11 T C 13: 9,760,198 (GRCm39) Q141R probably benign Het
Zrsr2-ps1 A G 11: 22,923,388 (GRCm39) E54G probably benign Het
Zscan10 G A 17: 23,828,456 (GRCm39) D333N probably benign 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
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
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'- GCTCCTTGAGTTTCTTGACAAAC -3'
(R):5'- CCCGTGTACGATGAACTCTTCC -3'

Sequencing Primer
(F):5'- AGTTTCTTGACAAACTCCTGTGC -3'
(R):5'- GTACGATGAACTCTTCCACTTGTGAG -3'
Posted On 2019-06-26