Incidental Mutation 'R0729:Adgrb1'
ID 67417
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission 038910-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0729 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74420398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 849 (N849S)
Ref Sequence ENSEMBL: ENSMUSP00000140362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000186360] [ENSMUST00000187485]
AlphaFold Q3UHD1
Predicted Effect probably damaging
Transcript: ENSMUST00000042035
AA Change: N849S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: N849S

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 damaging
Transcript: ENSMUST00000186360
AA Change: N849S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: N849S

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
Meta Mutation Damage Score 0.1973 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 97% (74/76)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,050,281 (GRCm39) A828S probably benign Het
Acsm3 T C 7: 119,383,207 (GRCm39) probably benign Het
Adamts12 G A 15: 11,255,769 (GRCm39) R446H possibly damaging Het
Ankra2 A G 13: 98,408,235 (GRCm39) D228G probably damaging Het
Bicd1 T C 6: 149,414,412 (GRCm39) V375A probably damaging Het
Blvrb A G 7: 27,147,555 (GRCm39) K5E possibly damaging Het
Cacna2d2 A G 9: 107,394,456 (GRCm39) N573D probably benign Het
Calhm2 C A 19: 47,121,356 (GRCm39) G271V possibly damaging Het
Capn13 C T 17: 73,629,064 (GRCm39) G581E probably damaging Het
Capzb T C 4: 139,016,288 (GRCm39) probably benign Het
Casd1 T C 6: 4,619,753 (GRCm39) probably benign Het
Clca4b A G 3: 144,634,111 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crx A G 7: 15,605,058 (GRCm39) probably benign Het
Cyp2c68 T C 19: 39,727,994 (GRCm39) probably benign Het
Dcaf8 T A 1: 172,000,221 (GRCm39) D126E probably benign Het
Ddx31 T C 2: 28,764,186 (GRCm39) I464T probably damaging Het
Dhx32 G A 7: 133,339,150 (GRCm39) T155I probably benign Het
Elac2 C A 11: 64,889,349 (GRCm39) P567T possibly damaging Het
Fat4 A G 3: 39,054,444 (GRCm39) probably benign Het
Fh1 T G 1: 175,442,383 (GRCm39) N156H probably damaging Het
Gm10064 T C 5: 122,835,584 (GRCm39) noncoding transcript Het
Gm14137 A G 2: 119,005,834 (GRCm39) E131G probably benign Het
Gpr22 T A 12: 31,759,312 (GRCm39) K233M probably damaging Het
Gpr63 A G 4: 25,007,480 (GRCm39) N68S probably benign Het
Gypa C T 8: 81,223,421 (GRCm39) P66S unknown Het
Htr2a A T 14: 74,879,587 (GRCm39) Q72L probably benign Het
Klhdc7b C T 15: 89,271,598 (GRCm39) R827* probably null Het
Leo1 G A 9: 75,364,420 (GRCm39) R520Q possibly damaging Het
Lrrc66 T C 5: 73,765,757 (GRCm39) M429V probably benign Het
Lrrc74a C T 12: 86,792,353 (GRCm39) Q225* probably null Het
Mamdc4 T A 2: 25,460,048 (GRCm39) N68Y probably damaging Het
Map3k10 G A 7: 27,360,992 (GRCm39) P507L probably damaging Het
Methig1 T A 15: 100,272,870 (GRCm39) C68S probably benign Het
Metrn C T 17: 26,015,202 (GRCm39) probably benign Het
Mmp12 C T 9: 7,358,290 (GRCm39) T392I possibly damaging Het
Mss51 A T 14: 20,533,160 (GRCm39) I437N probably damaging Het
Mtus2 A G 5: 148,014,097 (GRCm39) T297A probably benign Het
Myo10 T C 15: 25,722,243 (GRCm39) probably benign Het
Ncoa7 G A 10: 30,567,575 (GRCm39) P319S probably benign Het
Nlrp4d A T 7: 10,111,612 (GRCm39) probably benign Het
Obscn A G 11: 58,923,535 (GRCm39) S6455P probably damaging Het
Or5b97 T C 19: 12,878,259 (GRCm39) N295S probably damaging Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Pcdh12 A G 18: 38,415,517 (GRCm39) I536T probably benign Het
Pex5l G T 3: 33,008,685 (GRCm39) probably benign Het
Pla2g2e A C 4: 138,608,046 (GRCm39) K43Q possibly damaging Het
Rasa4 T C 5: 136,130,924 (GRCm39) probably benign Het
Rsf1 C T 7: 97,328,234 (GRCm39) R1079W probably damaging Het
Sez6 A G 11: 77,867,411 (GRCm39) T803A probably benign Het
Shcbp1 T A 8: 4,786,297 (GRCm39) N602Y probably benign Het
Slc16a13 G A 11: 70,109,857 (GRCm39) P215S probably damaging Het
Slc39a6 T C 18: 24,734,527 (GRCm39) Q54R probably benign Het
Smg1 C A 7: 117,745,512 (GRCm39) probably benign Het
Spg7 A G 8: 123,797,156 (GRCm39) N110D probably damaging Het
Sptbn1 A T 11: 30,060,902 (GRCm39) S2010T probably damaging Het
Sun1 T A 5: 139,223,619 (GRCm39) probably benign Het
Sytl5 A G X: 9,860,736 (GRCm39) E717G probably damaging Het
Tle1 A T 4: 72,044,679 (GRCm39) probably benign Het
Tm9sf4 T A 2: 153,033,065 (GRCm39) V290E probably damaging Het
Tmem63b A G 17: 45,985,060 (GRCm39) S179P probably damaging Het
Trpm3 T A 19: 22,965,153 (GRCm39) F1549L probably benign Het
Ubr4 A T 4: 139,212,631 (GRCm39) Y5063F possibly damaging Het
Uroc1 T A 6: 90,313,937 (GRCm39) Y75N probably damaging Het
Vmn2r70 T C 7: 85,215,112 (GRCm39) T141A probably benign Het
Vps13c A G 9: 67,868,931 (GRCm39) K3128E probably damaging Het
Wdr26 T C 1: 181,013,470 (GRCm39) probably null Het
Wrn T A 8: 33,738,946 (GRCm39) probably null Het
Zfp106 C T 2: 120,385,729 (GRCm39) V13M probably damaging Het
Zfp456 G A 13: 67,514,663 (GRCm39) H348Y probably damaging Het
Zfpm1 G A 8: 123,063,398 (GRCm39) R819H probably benign 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
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
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'- CCCTTCCAGAAGCTGACGATTCATC -3'
(R):5'- TGTGACCCCAAAAGCTACTGCC -3'

Sequencing Primer
(F):5'- GGTACTGTGCTCTACCGAAAC -3'
(R):5'- GCTACTGCCTGAGAGGAGTG -3'
Posted On 2013-09-03