Incidental Mutation 'R7213:Adgrb1'
ID 561249
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74441733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 945 (T945A)
Ref Sequence ENSEMBL: ENSMUSP00000046097 (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
AA Change: T945A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: T945A

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
AA Change: T5A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127122
Gene: ENSMUSG00000034730
AA Change: T5A

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
AA Change: T5A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139428
Gene: ENSMUSG00000034730
AA Change: T5A

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
AA Change: T945A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: T945A

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
AA Change: T5A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140831
Gene: ENSMUSG00000034730
AA Change: T5A

DomainStartEndE-ValueType
Pfam:7tm_2 4 135 6.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189353
AA Change: T5A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140889
Gene: ENSMUSG00000034730
AA Change: T5A

DomainStartEndE-ValueType
Pfam:7tm_2 4 147 3.5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190524
AA Change: T5A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140407
Gene: ENSMUSG00000034730
AA Change: T5A

DomainStartEndE-ValueType
Pfam:7tm_2 4 112 4.3e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S 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
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'- GCCTGCTACTGTCATTATACTTGTG -3'
(R):5'- AGCTGGTCCAGAGTAGATGG -3'

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