Incidental Mutation 'R9445:Adgrb1'
ID 736060
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9445 (G1)
Quality Score 71.0078
Status Validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 74435807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000170845] [ENSMUST00000185682] [ENSMUST00000186360] [ENSMUST00000187485] [ENSMUST00000187599] [ENSMUST00000189353] [ENSMUST00000190524]
AlphaFold Q3UHD1
Predicted Effect probably benign
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: ENSMUST00000170845
SMART Domains Protein: ENSMUSP00000127122
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
Pfam:7tm_2 4 240 1.9e-67 PFAM
SCOP:d1jvr__ 456 492 1e-3 SMART
low complexity region 501 515 N/A INTRINSIC
low complexity region 605 616 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185682
SMART Domains Protein: ENSMUSP00000139428
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
Pfam:7tm_2 4 240 1.9e-67 PFAM
SCOP:d1jvr__ 456 492 1e-3 SMART
low complexity region 501 515 N/A INTRINSIC
low complexity region 605 616 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: ENSMUST00000187599
SMART Domains Protein: ENSMUSP00000140831
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
Pfam:7tm_2 4 135 6.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189353
SMART Domains Protein: ENSMUSP00000140889
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
Pfam:7tm_2 4 147 3.5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190524
SMART Domains Protein: ENSMUSP00000140407
Gene: ENSMUSG00000034730

DomainStartEndE-ValueType
Pfam:7tm_2 4 112 4.3e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (72/73)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T A 14: 41,818,174 (GRCm39) H23Q possibly damaging Het
Abca14 T C 7: 119,877,691 (GRCm39) S1069P probably benign Het
Abo A G 2: 26,733,720 (GRCm39) W160R probably damaging Het
Ahnak2 T C 12: 112,745,978 (GRCm39) Q1624R Het
Amy2a1 T A 3: 113,325,324 (GRCm39) N90I possibly damaging Het
Bod1l C T 5: 41,974,619 (GRCm39) V2232I probably benign Het
Brsk2 T A 7: 141,538,149 (GRCm39) H98Q probably damaging Het
Caskin2 C T 11: 115,694,576 (GRCm39) V342I probably damaging Het
Ccdc13 T C 9: 121,627,156 (GRCm39) N707S probably benign Het
Cdv3 T C 9: 103,241,240 (GRCm39) E109G probably damaging Het
Coro2a C T 4: 46,540,558 (GRCm39) E454K probably benign Het
Cpq A T 15: 33,213,391 (GRCm39) I137F possibly damaging Het
Ctsj G A 13: 61,151,838 (GRCm39) T73I possibly damaging Het
Dchs2 A G 3: 83,146,284 (GRCm39) D710G probably damaging Het
Drd4 T C 7: 140,872,162 (GRCm39) V71A probably damaging Het
Eef2k T C 7: 120,457,694 (GRCm39) C18R probably benign Het
Ercc4 C A 16: 12,945,474 (GRCm39) D386E probably benign Het
F2rl2 A C 13: 95,837,622 (GRCm39) L222F probably benign Het
Fkbp4 T C 6: 128,413,580 (GRCm39) D68G probably damaging Het
Fsip2 A T 2: 82,806,132 (GRCm39) D817V probably damaging Het
Gm19410 G A 8: 36,239,652 (GRCm39) R116H possibly damaging Het
Gm9376 A T 14: 118,504,502 (GRCm39) probably benign Het
Golim4 A T 3: 75,813,775 (GRCm39) F150I probably damaging Het
Gtpbp2 G A 17: 46,478,757 (GRCm39) V525M probably damaging Het
Hook1 A G 4: 95,901,499 (GRCm39) N486D probably benign Het
Hook1 A G 4: 95,903,049 (GRCm39) S513G probably benign Het
Hoxd9 A T 2: 74,528,415 (GRCm39) T6S probably damaging Het
Hsd3b2 A T 3: 98,619,051 (GRCm39) L298Q possibly damaging Het
Idh3b A C 2: 130,123,572 (GRCm39) S172A probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Ighv5-17 T A 12: 113,822,858 (GRCm39) T88S possibly damaging Het
Il16 T A 7: 83,337,380 (GRCm39) K112* probably null Het
Irag1 A T 7: 110,545,161 (GRCm39) I45N possibly damaging Het
Kalrn T A 16: 33,805,600 (GRCm39) I2646F probably benign Het
Kcnt1 G T 2: 25,767,959 (GRCm39) G23C probably damaging Het
Kirrel2 T A 7: 30,150,260 (GRCm39) I523F probably damaging Het
Lrrc3b A T 14: 15,358,552 (GRCm38) L18H probably damaging Het
Med13l T A 5: 118,862,214 (GRCm39) S386T probably benign Het
Mettl6 C T 14: 31,209,527 (GRCm39) probably null Het
Mocs2 C T 13: 114,961,879 (GRCm39) A120V possibly damaging Het
Mrpl39 T C 16: 84,531,346 (GRCm39) T74A probably benign Het
Myh2 T C 11: 67,069,754 (GRCm39) F367L probably damaging Het
N4bp1 G A 8: 87,587,238 (GRCm39) Q567* probably null Het
Naf1 A G 8: 67,336,097 (GRCm39) I341M probably damaging Het
Ncoa6 A T 2: 155,250,063 (GRCm39) N1080K probably benign Het
Nell1 C A 7: 49,632,474 (GRCm39) L36I possibly damaging Het
Nrxn2 A G 19: 6,522,448 (GRCm39) D446G probably damaging Het
Nrxn3 T A 12: 89,499,737 (GRCm39) C709* probably null Het
Or13p4 T G 4: 118,547,416 (GRCm39) T78P probably damaging Het
Or2ag17 A G 7: 106,389,464 (GRCm39) V248A probably damaging Het
Or2n1 A C 17: 38,486,694 (GRCm39) T240P probably damaging Het
Or2t26 C G 11: 49,039,879 (GRCm39) A265G probably benign Het
Or8g19 T A 9: 39,055,766 (GRCm39) Y123* probably null Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pbx3 A G 2: 34,114,555 (GRCm39) probably benign Het
Pcnx1 T C 12: 81,964,981 (GRCm39) S383P probably damaging Het
Pde6h T G 6: 136,936,359 (GRCm39) F34C probably damaging Het
Pnliprp1 A G 19: 58,720,628 (GRCm39) probably benign Het
Pramel21 T C 4: 143,343,795 (GRCm39) L365P probably damaging Het
Prl8a9 C T 13: 27,748,498 (GRCm39) probably null Het
Qdpr T C 5: 45,596,669 (GRCm39) N165S probably benign Het
Rabl2 A G 15: 89,468,148 (GRCm39) F158L probably damaging Het
Rrp7a G T 15: 83,004,084 (GRCm39) C117* probably null Het
Ryr2 T C 13: 11,787,463 (GRCm39) Y970C probably damaging Het
Sf3b3 T C 8: 111,552,774 (GRCm39) T503A possibly damaging Het
Sipa1 T C 19: 5,704,198 (GRCm39) E708G probably damaging Het
Skor2 T A 18: 76,948,811 (GRCm39) S844R possibly damaging Het
Slc6a7 C T 18: 61,138,815 (GRCm39) C231Y probably damaging Het
Smgc A T 15: 91,729,665 (GRCm39) E206D probably benign Het
Tanc2 T C 11: 105,758,290 (GRCm39) S684P possibly damaging Het
Tep1 T C 14: 51,082,967 (GRCm39) T1014A possibly damaging Het
Tex19.1 A G 11: 121,038,283 (GRCm39) S214G probably benign Het
Trmt6 G A 2: 132,650,774 (GRCm39) S278L probably benign Het
Use1 T C 8: 71,821,200 (GRCm39) S156P probably benign Het
Znrf1 G A 8: 112,335,954 (GRCm39) V152M probably damaging 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
R2114:Adgrb1 UTSW 15 74,412,411 (GRCm39) critical splice donor site probably null
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
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'- TACTTGGAGCCGCAGATACC -3'
(R):5'- ACTTCAACGGGACACTGTGG -3'

Sequencing Primer
(F):5'- ATGGAGCCATCCCAAGGTC -3'
(R):5'- ACACTGTGGCTGCCAGG -3'
Posted On 2023-03-15