Incidental Mutation 'R9157:Adgrb1'
ID 695471
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9157 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74411624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 376 (T376A)
Ref Sequence ENSEMBL: ENSMUSP00000046097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000186360] [ENSMUST00000187485]
AlphaFold Q3UHD1
Predicted Effect probably damaging
Transcript: ENSMUST00000042035
AA Change: T376A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: T376A

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 possibly damaging
Transcript: ENSMUST00000186360
AA Change: T376A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: T376A

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 silent
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,207,220 (GRCm39) T324A probably benign Het
Adam9 A T 8: 25,493,331 (GRCm39) F92L probably damaging Het
Aff3 A C 1: 38,249,559 (GRCm39) I516S probably benign Het
Bdp1 C T 13: 100,186,436 (GRCm39) S1672N probably benign Het
Btc A T 5: 91,513,980 (GRCm39) I94N probably damaging Het
Ccdc168 A G 1: 44,096,520 (GRCm39) V1526A probably benign Het
Ccdc47 A T 11: 106,093,208 (GRCm39) probably null Het
Ceacam5 A T 7: 17,493,419 (GRCm39) Y814F possibly damaging Het
Celsr3 A T 9: 108,707,185 (GRCm39) R1223W probably damaging Het
Cenpc1 A G 5: 86,166,316 (GRCm39) M779T probably benign Het
Cfap20dc T A 14: 8,518,635 (GRCm38) T274S probably benign Het
Depdc5 T C 5: 33,102,452 (GRCm39) I986T probably damaging Het
Dhx40 A T 11: 86,662,050 (GRCm39) I669N probably damaging Het
Dnah1 T A 14: 30,987,970 (GRCm39) I3483F probably damaging Het
Dzip3 C T 16: 48,748,124 (GRCm39) G918D probably benign Het
Fam185a T G 5: 21,660,837 (GRCm39) V284G probably damaging Het
Fhod3 T C 18: 25,218,651 (GRCm39) S805P probably damaging Het
Filip1l A G 16: 57,391,980 (GRCm39) N856S probably benign Het
Gm12887 C T 4: 121,473,701 (GRCm39) V50M probably benign Het
Gm45785 T C 7: 140,398,616 (GRCm39) I94V unknown Het
Gm9195 A G 14: 72,692,038 (GRCm39) I1616T unknown Het
Grm4 T A 17: 27,653,956 (GRCm39) I665F probably benign Het
Hcls1 C T 16: 36,777,000 (GRCm39) A230V probably benign Het
Hic1 A G 11: 75,057,053 (GRCm39) L612P possibly damaging Het
Hmcn1 A C 1: 150,522,343 (GRCm39) V3519G probably benign Het
Hmgcs1 A G 13: 120,165,963 (GRCm39) Y360C probably benign Het
Hspa12a A T 19: 58,789,292 (GRCm39) M448K possibly damaging Het
Htt T G 5: 34,987,171 (GRCm39) I1130S probably null Het
Irx3 A G 8: 92,527,694 (GRCm39) Y59H probably damaging Het
Klc4 A G 17: 46,950,361 (GRCm39) L280P probably damaging Het
Lrp1 G T 10: 127,410,209 (GRCm39) N1512K probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Marco T C 1: 120,421,814 (GRCm39) E130G probably damaging Het
Mdga1 G A 17: 30,057,491 (GRCm39) T775M probably damaging Het
Ms4a18 A T 19: 10,988,804 (GRCm39) L184Q probably damaging Het
Msi2 A C 11: 88,608,889 (GRCm39) S10A probably benign Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Ngfr AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 95,478,316 (GRCm39) probably benign Het
Nradd A G 9: 110,451,188 (GRCm39) L60P probably damaging Het
Nup188 A G 2: 30,188,456 (GRCm39) Y39C probably benign Het
Odf2 G T 2: 29,816,815 (GRCm39) G754C probably benign Het
Or10a2 A T 7: 106,673,214 (GRCm39) M60L probably damaging Het
Or12d15 A G 17: 37,694,183 (GRCm39) M242V probably benign Het
Or13d1 A G 4: 52,971,419 (GRCm39) Y266C possibly damaging Het
Or4b1 A G 2: 89,979,522 (GRCm39) I276T possibly damaging Het
Osbpl6 C T 2: 76,382,468 (GRCm39) P222S probably benign Het
Pcdhga3 T C 18: 37,809,229 (GRCm39) Y561H probably benign Het
Phykpl G A 11: 51,490,375 (GRCm39) V419I probably benign Het
Pskh1 A G 8: 106,640,142 (GRCm39) Y274C possibly damaging Het
Rap1gap G T 4: 137,444,742 (GRCm39) V219F probably damaging Het
Rapgef4 C A 2: 72,005,212 (GRCm39) H220N probably benign Het
Rcor3 G T 1: 191,810,181 (GRCm39) H165Q possibly damaging Het
Reg3d T C 6: 78,354,422 (GRCm39) T60A possibly damaging Het
Rgs9 T A 11: 109,116,549 (GRCm39) D644V probably damaging Het
Rhob T A 12: 8,549,319 (GRCm39) H105L probably benign Het
Rph3a T C 5: 121,101,892 (GRCm39) K115E probably damaging Het
Rsf1 GG GGGGACGGCCG 7: 97,229,113 (GRCm39) probably benign Het
Scn4b T A 9: 45,058,013 (GRCm39) V35E probably damaging Het
Serpina3i T C 12: 104,231,672 (GRCm39) I103T probably damaging Het
Sidt2 T C 9: 45,852,658 (GRCm39) T776A possibly damaging Het
Slc15a1 T C 14: 121,702,389 (GRCm39) I586V probably benign Het
Slc15a5 A T 6: 137,961,456 (GRCm39) V213E Het
Stard13 C A 5: 151,157,152 (GRCm39) A10S probably benign Het
Taf6 C A 5: 138,179,221 (GRCm39) V406F possibly damaging Het
Tap2 G T 17: 34,431,004 (GRCm39) R368L possibly damaging Het
Tmem236 T C 2: 14,223,889 (GRCm39) V226A probably benign Het
Tmem87a T A 2: 120,210,093 (GRCm39) I287F possibly damaging Het
Ttll13 A T 7: 79,904,428 (GRCm39) K351I possibly damaging Het
Ttn T A 2: 76,581,245 (GRCm39) Y23216F probably damaging Het
Vmn2r27 T C 6: 124,201,244 (GRCm39) T238A probably benign Het
Vmn2r54 T C 7: 12,366,055 (GRCm39) Y293C possibly damaging Het
Vsig10l T C 7: 43,112,948 (GRCm39) S69P Het
Wdr83 G A 8: 85,806,432 (GRCm39) T122I probably damaging Het
Zfp219 A G 14: 52,246,200 (GRCm39) V309A probably damaging Het
Zfp354a C T 11: 50,960,788 (GRCm39) S332F probably damaging Het
Zfp354b T C 11: 50,813,887 (GRCm39) N346S possibly 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
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'- GAAAGTTAGAACCCTGCCCC -3'
(R):5'- CTTACACACCTGGAGCTCTGTC -3'

Sequencing Primer
(F):5'- GTCATTTTGAGACCTACAGAACCTC -3'
(R):5'- TGGAGCTCTGTCCCACC -3'
Posted On 2022-01-20