Incidental Mutation 'R2114:Adgrb1'
ID 232966
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission 040118-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2114 (G1)
Quality Score 174
Status Not validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 74412411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000042035] [ENSMUST00000186360] [ENSMUST00000186360] [ENSMUST00000187485] [ENSMUST00000187485]
AlphaFold Q3UHD1
Predicted Effect probably null
Transcript: ENSMUST00000042035
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 141 160 N/A INTRINSIC
TSP1 264 315 4.69e-10 SMART
low complexity region 319 329 N/A INTRINSIC
TSP1 357 407 3.5e-9 SMART
TSP1 412 462 3.16e-16 SMART
TSP1 470 520 7.15e-15 SMART
TSP1 525 575 3.11e-15 SMART
HormR 577 643 2.55e-20 SMART
Pfam:GAIN 656 859 1e-46 PFAM
GPS 880 938 1.46e-18 SMART
Pfam:7tm_2 944 1180 3.3e-66 PFAM
SCOP:d1jvr__ 1396 1432 5e-4 SMART
low complexity region 1441 1455 N/A INTRINSIC
low complexity region 1545 1556 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000042035
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 141 160 N/A INTRINSIC
TSP1 264 315 4.69e-10 SMART
low complexity region 319 329 N/A INTRINSIC
TSP1 357 407 3.5e-9 SMART
TSP1 412 462 3.16e-16 SMART
TSP1 470 520 7.15e-15 SMART
TSP1 525 575 3.11e-15 SMART
HormR 577 643 2.55e-20 SMART
Pfam:GAIN 656 859 1e-46 PFAM
GPS 880 938 1.46e-18 SMART
Pfam:7tm_2 944 1180 3.3e-66 PFAM
SCOP:d1jvr__ 1396 1432 5e-4 SMART
low complexity region 1441 1455 N/A INTRINSIC
low complexity region 1545 1556 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186360
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 141 160 N/A INTRINSIC
TSP1 264 315 2.2e-12 SMART
low complexity region 319 329 N/A INTRINSIC
TSP1 357 407 1.7e-11 SMART
TSP1 412 462 1.5e-18 SMART
TSP1 470 520 3.4e-17 SMART
TSP1 525 575 1.5e-17 SMART
HormR 577 643 1.6e-22 SMART
Pfam:DUF3497 653 874 1.2e-44 PFAM
GPS 880 938 8.9e-21 SMART
Pfam:7tm_2 944 1106 9.6e-43 PFAM
low complexity region 1113 1143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186360
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 141 160 N/A INTRINSIC
TSP1 264 315 2.2e-12 SMART
low complexity region 319 329 N/A INTRINSIC
TSP1 357 407 1.7e-11 SMART
TSP1 412 462 1.5e-18 SMART
TSP1 470 520 3.4e-17 SMART
TSP1 525 575 1.5e-17 SMART
HormR 577 643 1.6e-22 SMART
Pfam:DUF3497 653 874 1.2e-44 PFAM
GPS 880 938 8.9e-21 SMART
Pfam:7tm_2 944 1106 9.6e-43 PFAM
low complexity region 1113 1143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187485
SMART Domains Protein: ENSMUSP00000140959
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 141 160 N/A INTRINSIC
TSP1 264 315 2.2e-12 SMART
low complexity region 319 329 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187485
SMART Domains Protein: ENSMUSP00000140959
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 141 160 N/A INTRINSIC
TSP1 264 315 2.2e-12 SMART
low complexity region 319 329 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189200
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a A G 2: 154,889,649 (GRCm39) R72G probably benign Het
Akr1b7 G A 6: 34,395,929 (GRCm39) A144T possibly damaging Het
Anapc5 C T 5: 122,926,001 (GRCm39) V685I probably benign Het
Apba3 T C 10: 81,108,946 (GRCm39) Y570H probably damaging Het
Arf5 C T 6: 28,424,783 (GRCm39) Q71* probably null Het
Arl15 C T 13: 114,104,196 (GRCm39) S111F probably damaging Het
Ash1l C T 3: 88,890,571 (GRCm39) L817F probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Blvra G T 2: 126,927,989 (GRCm39) E80* probably null Het
Bmp10 A C 6: 87,411,441 (GRCm39) E411D probably benign Het
Ccdc148 T C 2: 58,892,128 (GRCm39) E188G probably damaging Het
Ces1a A G 8: 93,766,179 (GRCm39) L145P possibly damaging Het
Chsy3 G A 18: 59,312,561 (GRCm39) V345I probably damaging Het
Ckmt2 T A 13: 92,003,964 (GRCm39) I345F probably benign Het
Col5a2 T A 1: 45,415,964 (GRCm39) E1394D probably damaging Het
Dnah6 T C 6: 73,121,018 (GRCm39) N1492S probably damaging Het
Dock3 T C 9: 106,870,743 (GRCm39) N557S probably benign Het
Edem2 G A 2: 155,544,479 (GRCm39) R424C probably damaging Het
Exoc4 T A 6: 33,324,760 (GRCm39) N351K possibly damaging Het
Eya1 A T 1: 14,340,998 (GRCm39) F163I probably damaging Het
Ezh1 A C 11: 101,099,011 (GRCm39) S290A probably benign Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fam83h A T 15: 75,874,146 (GRCm39) Y1064N probably damaging Het
Fat4 A T 3: 39,035,633 (GRCm39) H3095L probably benign Het
Fbxo38 A C 18: 62,639,711 (GRCm39) I1051S possibly damaging Het
Galnt6 G C 15: 100,612,122 (GRCm39) C173W probably damaging Het
Gcc2 T A 10: 58,105,362 (GRCm39) C99* probably null Het
Gcn1 A T 5: 115,736,884 (GRCm39) M1276L probably benign Het
Gm266 T G 12: 111,452,116 (GRCm39) Q30P possibly damaging Het
Gsdma A T 11: 98,563,838 (GRCm39) E264V probably damaging Het
Ift74 A G 4: 94,515,496 (GRCm39) T138A probably benign Het
Ikzf1 T G 11: 11,719,473 (GRCm39) H480Q probably damaging Het
Ints14 T G 9: 64,887,077 (GRCm39) L336R probably damaging Het
Irak1 G T X: 73,066,218 (GRCm39) P197Q possibly damaging Het
Kcna6 A G 6: 126,716,322 (GRCm39) V189A possibly damaging Het
Kcnh4 A G 11: 100,650,421 (GRCm39) M4T probably damaging Het
Kif4 A G X: 99,709,323 (GRCm39) S315G probably benign Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lrwd1 T A 5: 136,159,332 (GRCm39) Y431F probably damaging Het
Madd A G 2: 90,994,367 (GRCm39) V884A probably damaging Het
Maz C A 7: 126,624,677 (GRCm39) C281F probably damaging Het
Mb G T 15: 76,906,759 (GRCm39) Q9K probably benign Het
Mllt10 A G 2: 18,167,380 (GRCm39) N435S probably benign Het
Mrm3 T C 11: 76,135,347 (GRCm39) M186T possibly damaging Het
Naprt T C 15: 75,763,637 (GRCm39) Y395C probably damaging Het
Nccrp1 T A 7: 28,246,334 (GRCm39) Q76L probably benign Het
Nlgn1 T A 3: 26,187,414 (GRCm39) N157I probably damaging Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Obscn C T 11: 59,022,484 (GRCm39) V754M probably damaging Het
Pcdhb12 A G 18: 37,569,265 (GRCm39) E137G probably damaging Het
Pdk2 A G 11: 94,918,088 (GRCm39) Y382H probably damaging Het
Phka1 C T X: 101,653,807 (GRCm39) R290H probably damaging Het
Pick1 T A 15: 79,139,781 (GRCm39) probably benign Het
Pik3r2 T C 8: 71,222,029 (GRCm39) I585V probably benign Het
Pitrm1 A T 13: 6,607,809 (GRCm39) Y268F probably damaging Het
Polr2b G A 5: 77,468,817 (GRCm39) E198K probably damaging Het
Prelid3b T C 2: 174,311,243 (GRCm39) N9D probably damaging Het
Prex2 T A 1: 11,256,937 (GRCm39) N1216K probably damaging Het
Prkab2 A T 3: 97,574,711 (GRCm39) M236L possibly damaging Het
Prkar2b T A 12: 32,017,279 (GRCm39) N257I probably damaging Het
Prkcd A G 14: 30,327,808 (GRCm39) C208R probably damaging Het
Prkch T A 12: 73,749,290 (GRCm39) S347T probably benign Het
Prr12 A G 7: 44,695,506 (GRCm39) V1320A unknown Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpra G T 2: 130,381,655 (GRCm39) R372L probably damaging Het
Ptx3 T A 3: 66,132,187 (GRCm39) I236N probably damaging Het
Ralgapa1 T C 12: 55,833,134 (GRCm39) probably null Het
Rgr T A 14: 36,760,809 (GRCm39) probably null Het
Rgs7 T A 1: 174,918,639 (GRCm39) N235I probably damaging Het
Rgsl1 T A 1: 153,693,295 (GRCm39) M629L probably benign Het
Rpgrip1 A T 14: 52,387,024 (GRCm39) E781V probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Rtf1 T A 2: 119,535,999 (GRCm39) H184Q probably benign Het
Rusc1 T C 3: 88,999,014 (GRCm39) D256G probably benign Het
Scap T C 9: 110,210,341 (GRCm39) Y917H probably damaging Het
Scn9a T C 2: 66,314,396 (GRCm39) E1774G probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Slc24a2 C T 4: 86,909,592 (GRCm39) V664I probably benign Het
Stim2 A G 5: 54,261,819 (GRCm39) Q237R probably damaging Het
Synpo2 T A 3: 122,873,537 (GRCm39) H1143L probably benign Het
Syt4 A G 18: 31,573,520 (GRCm39) Y332H probably damaging Het
Tcf23 G A 5: 31,130,919 (GRCm39) D186N probably benign Het
Tcf3 C A 10: 80,246,040 (GRCm39) G628W probably damaging Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Tlr5 T C 1: 182,803,194 (GRCm39) W833R probably damaging Het
Tmem132b A G 5: 125,699,615 (GRCm39) E92G probably damaging Het
Ttn A T 2: 76,577,352 (GRCm39) S24514T probably damaging Het
Txndc16 T C 14: 45,382,484 (GRCm39) E587G probably benign Het
Ubr4 A T 4: 139,156,922 (GRCm39) K2316* probably null Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Vat1 A T 11: 101,356,568 (GRCm39) V131E probably damaging Het
Vgll1 A C X: 56,137,790 (GRCm39) K53T probably damaging Het
Zfp1005 T A 2: 150,109,819 (GRCm39) C170S unknown Het
Zfp592 G A 7: 80,674,544 (GRCm39) V503M probably damaging Het
Zfp786 A G 6: 47,803,931 (GRCm39) V37A probably damaging Het
Zscan30 A G 18: 24,104,173 (GRCm39) noncoding transcript Het
Other mutations in Adgrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01525:Adgrb1 APN 15 74,458,684 (GRCm39) missense probably damaging 1.00
IGL01748:Adgrb1 APN 15 74,420,206 (GRCm39) splice site probably benign
IGL01874:Adgrb1 APN 15 74,413,423 (GRCm39) missense possibly damaging 0.95
IGL02040:Adgrb1 APN 15 74,413,424 (GRCm39) missense possibly damaging 0.91
IGL02138:Adgrb1 APN 15 74,401,631 (GRCm39) missense probably damaging 1.00
IGL02149:Adgrb1 APN 15 74,412,326 (GRCm39) missense probably damaging 1.00
IGL02320:Adgrb1 APN 15 74,445,961 (GRCm39) missense probably damaging 1.00
IGL02556:Adgrb1 APN 15 74,458,654 (GRCm39) missense probably damaging 0.99
IGL02637:Adgrb1 APN 15 74,460,143 (GRCm39) splice site probably benign
IGL02678:Adgrb1 APN 15 74,410,177 (GRCm39) missense probably damaging 0.99
IGL02792:Adgrb1 APN 15 74,419,471 (GRCm39) missense probably damaging 0.98
Bunting UTSW 15 74,415,550 (GRCm39) missense probably null 0.94
BB005:Adgrb1 UTSW 15 74,410,170 (GRCm39) missense probably damaging 1.00
BB015:Adgrb1 UTSW 15 74,410,170 (GRCm39) missense probably damaging 1.00
PIT4520001:Adgrb1 UTSW 15 74,413,508 (GRCm39) missense probably damaging 0.99
R0193:Adgrb1 UTSW 15 74,444,005 (GRCm39) missense probably damaging 1.00
R0208:Adgrb1 UTSW 15 74,458,656 (GRCm39) missense probably benign
R0267:Adgrb1 UTSW 15 74,401,238 (GRCm39) missense probably damaging 1.00
R0336:Adgrb1 UTSW 15 74,458,998 (GRCm39) missense probably benign 0.06
R0345:Adgrb1 UTSW 15 74,415,198 (GRCm39) missense probably damaging 0.97
R0533:Adgrb1 UTSW 15 74,413,408 (GRCm39) missense probably damaging 1.00
R0635:Adgrb1 UTSW 15 74,412,741 (GRCm39) missense possibly damaging 0.88
R0729:Adgrb1 UTSW 15 74,420,398 (GRCm39) missense probably damaging 1.00
R0792:Adgrb1 UTSW 15 74,452,466 (GRCm39) missense probably damaging 1.00
R1122:Adgrb1 UTSW 15 74,419,534 (GRCm39) missense probably damaging 0.99
R1295:Adgrb1 UTSW 15 74,421,888 (GRCm39) missense probably damaging 1.00
R1522:Adgrb1 UTSW 15 74,452,466 (GRCm39) missense probably damaging 1.00
R1696:Adgrb1 UTSW 15 74,459,956 (GRCm39) missense probably damaging 1.00
R1707:Adgrb1 UTSW 15 74,401,192 (GRCm39) missense probably damaging 0.99
R1750:Adgrb1 UTSW 15 74,413,676 (GRCm39) missense probably benign 0.23
R1804:Adgrb1 UTSW 15 74,401,389 (GRCm39) missense probably damaging 1.00
R1829:Adgrb1 UTSW 15 74,452,435 (GRCm39) nonsense probably null
R1895:Adgrb1 UTSW 15 74,412,314 (GRCm39) missense probably damaging 1.00
R1970:Adgrb1 UTSW 15 74,411,726 (GRCm39) splice site probably benign
R2133:Adgrb1 UTSW 15 74,401,757 (GRCm39) missense probably damaging 1.00
R2210:Adgrb1 UTSW 15 74,419,553 (GRCm39) missense probably damaging 1.00
R3701:Adgrb1 UTSW 15 74,416,864 (GRCm39) missense probably damaging 0.99
R3770:Adgrb1 UTSW 15 74,460,157 (GRCm39) missense probably damaging 1.00
R3980:Adgrb1 UTSW 15 74,454,792 (GRCm39) missense probably damaging 1.00
R4355:Adgrb1 UTSW 15 74,415,511 (GRCm39) missense probably damaging 1.00
R4412:Adgrb1 UTSW 15 74,449,302 (GRCm39) unclassified probably benign
R4634:Adgrb1 UTSW 15 74,456,278 (GRCm39) utr 3 prime probably benign
R4683:Adgrb1 UTSW 15 74,459,963 (GRCm39) missense probably damaging 1.00
R4742:Adgrb1 UTSW 15 74,401,328 (GRCm39) nonsense probably null
R4760:Adgrb1 UTSW 15 74,443,312 (GRCm39) missense probably damaging 1.00
R4794:Adgrb1 UTSW 15 74,459,978 (GRCm39) missense probably damaging 1.00
R4880:Adgrb1 UTSW 15 74,458,871 (GRCm39) missense possibly damaging 0.85
R4885:Adgrb1 UTSW 15 74,444,011 (GRCm39) missense probably benign 0.04
R5092:Adgrb1 UTSW 15 74,401,664 (GRCm39) missense probably benign 0.39
R5198:Adgrb1 UTSW 15 74,415,550 (GRCm39) missense probably null 0.94
R5225:Adgrb1 UTSW 15 74,449,348 (GRCm39) unclassified probably benign
R5421:Adgrb1 UTSW 15 74,421,876 (GRCm39) missense probably damaging 1.00
R5764:Adgrb1 UTSW 15 74,413,423 (GRCm39) missense possibly damaging 0.95
R5914:Adgrb1 UTSW 15 74,410,219 (GRCm39) missense possibly damaging 0.54
R6035:Adgrb1 UTSW 15 74,412,292 (GRCm39) missense possibly damaging 0.50
R6035:Adgrb1 UTSW 15 74,412,292 (GRCm39) missense possibly damaging 0.50
R6066:Adgrb1 UTSW 15 74,412,308 (GRCm39) missense probably damaging 0.99
R6423:Adgrb1 UTSW 15 74,459,992 (GRCm39) critical splice donor site probably null
R6811:Adgrb1 UTSW 15 74,401,210 (GRCm39) missense probably damaging 1.00
R6945:Adgrb1 UTSW 15 74,421,873 (GRCm39) missense probably damaging 0.99
R7012:Adgrb1 UTSW 15 74,401,750 (GRCm39) missense probably damaging 0.97
R7015:Adgrb1 UTSW 15 74,445,959 (GRCm39) missense probably damaging 1.00
R7061:Adgrb1 UTSW 15 74,441,730 (GRCm39) missense probably benign 0.00
R7209:Adgrb1 UTSW 15 74,441,797 (GRCm39) missense possibly damaging 0.85
R7213:Adgrb1 UTSW 15 74,441,733 (GRCm39) missense probably benign
R7283:Adgrb1 UTSW 15 74,452,512 (GRCm39) missense possibly damaging 0.94
R7329:Adgrb1 UTSW 15 74,411,094 (GRCm39) missense probably damaging 0.99
R7616:Adgrb1 UTSW 15 74,420,418 (GRCm39) missense probably damaging 0.98
R7695:Adgrb1 UTSW 15 74,415,487 (GRCm39) missense possibly damaging 0.95
R7928:Adgrb1 UTSW 15 74,410,170 (GRCm39) missense probably damaging 1.00
R8152:Adgrb1 UTSW 15 74,416,849 (GRCm39) missense probably damaging 0.98
R8152:Adgrb1 UTSW 15 74,413,460 (GRCm39) missense probably benign 0.00
R8198:Adgrb1 UTSW 15 74,411,094 (GRCm39) missense probably damaging 0.99
R8485:Adgrb1 UTSW 15 74,420,153 (GRCm39) missense probably damaging 1.00
R8528:Adgrb1 UTSW 15 74,447,700 (GRCm39) missense possibly damaging 0.51
R8534:Adgrb1 UTSW 15 74,415,357 (GRCm39) missense probably damaging 0.97
R8865:Adgrb1 UTSW 15 74,415,507 (GRCm39) missense possibly damaging 0.75
R9044:Adgrb1 UTSW 15 74,441,748 (GRCm39) missense possibly damaging 0.95
R9098:Adgrb1 UTSW 15 74,415,189 (GRCm39) missense probably damaging 1.00
R9157:Adgrb1 UTSW 15 74,411,624 (GRCm39) missense probably damaging 0.98
R9166:Adgrb1 UTSW 15 74,420,475 (GRCm39) missense probably benign 0.00
R9313:Adgrb1 UTSW 15 74,411,624 (GRCm39) missense probably damaging 0.98
R9445:Adgrb1 UTSW 15 74,435,807 (GRCm39) critical splice acceptor site probably benign
Z1177:Adgrb1 UTSW 15 74,419,532 (GRCm39) missense probably damaging 0.99
Z1177:Adgrb1 UTSW 15 74,413,525 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTAGATTCTCCAGGTGGG -3'
(R):5'- GGCCTGGGACACATAAGAAC -3'

Sequencing Primer
(F):5'- AATTGTGGCTTCCTATCTCTCCATAG -3'
(R):5'- TGGGACACATAAGAACACCCCAG -3'
Posted On 2014-09-18