Incidental Mutation 'R7015:Adgrb1'
ID 545274
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission 045116-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7015 (G1)
Quality Score 216.009
Status Validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74445959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1085 (L1085P)
Ref Sequence ENSEMBL: ENSMUSP00000140362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000170845] [ENSMUST00000185682] [ENSMUST00000186360] [ENSMUST00000187485] [ENSMUST00000187599] [ENSMUST00000189353] [ENSMUST00000190524]
AlphaFold Q3UHD1
Predicted Effect probably damaging
Transcript: ENSMUST00000042035
AA Change: L1085P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: L1085P

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: ENSMUST00000170845
AA Change: L145P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127122
Gene: ENSMUSG00000034730
AA Change: L145P

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 damaging
Transcript: ENSMUST00000185682
AA Change: L145P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139428
Gene: ENSMUSG00000034730
AA Change: L145P

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 damaging
Transcript: ENSMUST00000186360
AA Change: L1085P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: L1085P

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 damaging
Transcript: ENSMUST00000189353
AA Change: L145P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140889
Gene: ENSMUSG00000034730
AA Change: L145P

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
Meta Mutation Damage Score 0.7839 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 93% (55/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A G 1: 159,902,738 (GRCm39) R3G possibly damaging Het
Abcc2 A G 19: 43,786,617 (GRCm39) I150V probably benign Het
Agbl4 A G 4: 110,335,697 (GRCm39) N24D probably damaging Het
Aox1 A G 1: 58,321,917 (GRCm39) T70A probably benign Het
Aplf G A 6: 87,618,884 (GRCm39) A399V probably damaging Het
Asxl3 A G 18: 22,656,978 (GRCm39) S1663G probably benign Het
Bcat1 G C 6: 144,985,309 (GRCm39) P43R probably damaging Het
Camk1 T C 6: 113,318,887 (GRCm39) R9G probably benign Het
Casp8ap2 T C 4: 32,644,278 (GRCm39) V1117A probably damaging Het
Cd300ld4 A T 11: 114,913,533 (GRCm39) V174E probably benign Het
Cep85l T C 10: 53,225,151 (GRCm39) D146G possibly damaging Het
Clip1 T C 5: 123,751,675 (GRCm39) probably benign Het
Cog3 C T 14: 75,950,716 (GRCm39) V719I possibly damaging Het
Col4a4 G A 1: 82,484,671 (GRCm39) P532L unknown Het
Col6a4 C T 9: 105,910,954 (GRCm39) probably null Het
Dync1h1 C T 12: 110,632,521 (GRCm39) Q4547* probably null Het
Ergic1 G A 17: 26,873,853 (GRCm39) probably benign Het
Foxn4 G A 5: 114,394,916 (GRCm39) T337M possibly damaging Het
Gemin5 A T 11: 58,047,566 (GRCm39) I336N probably damaging Het
Gm21905 A T 5: 68,103,705 (GRCm39) probably null Het
Grik2 C A 10: 49,411,532 (GRCm39) R202L probably damaging Het
Iglon5 T C 7: 43,126,351 (GRCm39) D184G probably benign Het
Il11ra1 A T 4: 41,765,421 (GRCm39) Q172L probably benign Het
Me2 G T 18: 73,914,218 (GRCm39) probably null Het
Med24 A G 11: 98,609,678 (GRCm39) V73A possibly damaging Het
Mmp24 A G 2: 155,634,544 (GRCm39) Q88R probably damaging Het
Mroh3 A T 1: 136,111,069 (GRCm39) V819E probably damaging Het
Mrps9 A G 1: 42,937,706 (GRCm39) K247R probably benign Het
Myo15b G A 11: 115,762,670 (GRCm39) R1254H Het
Ncoa5 A G 2: 164,844,001 (GRCm39) L134P probably benign Het
Or4d5 A T 9: 40,012,751 (GRCm39) F12I probably benign Het
Or51e2 C A 7: 102,391,651 (GRCm39) L186F probably damaging Het
Or52a24 T C 7: 103,382,024 (GRCm39) V297A probably null Het
Pdcd11 A G 19: 47,086,665 (GRCm39) I224V probably benign Het
Ptprh C A 7: 4,555,626 (GRCm39) probably null Het
Rab34 G T 11: 78,080,978 (GRCm39) V63F probably damaging Het
Rack1 T C 11: 48,692,592 (GRCm39) I71T probably benign Het
Rai14 G A 15: 10,589,401 (GRCm39) R266* probably null Het
Rsph9 A G 17: 46,440,382 (GRCm39) V238A probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sel1l3 A T 5: 53,329,916 (GRCm39) C480S probably benign Het
Sh3pxd2a C T 19: 47,256,562 (GRCm39) A747T probably benign Het
Slc1a3 T C 15: 8,679,052 (GRCm39) N181S probably damaging Het
Slit1 T A 19: 41,618,325 (GRCm39) K784* probably null Het
Sos2 T A 12: 69,632,009 (GRCm39) Q1297L probably benign Het
Srd5a2 T A 17: 74,334,114 (GRCm39) T102S probably benign Het
Ss18l2 A T 9: 121,541,674 (GRCm39) I64F probably damaging Het
Tas2r120 T C 6: 132,634,128 (GRCm39) F70S possibly damaging Het
Tjap1 G A 17: 46,574,700 (GRCm39) A5V possibly damaging Het
Tln2 A T 9: 67,269,929 (GRCm39) M488K possibly damaging Het
Tnks T G 8: 35,305,701 (GRCm39) I42L probably benign Het
Togaram2 A T 17: 72,016,563 (GRCm39) Q640L possibly damaging Het
Triobp C A 15: 78,878,260 (GRCm39) Q1682K probably damaging Het
Trip11 C T 12: 101,859,942 (GRCm39) E311K probably damaging Het
Ugt2b5 A G 5: 87,287,655 (GRCm39) Y171H probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Zfp990 G T 4: 145,263,205 (GRCm39) D68Y probably damaging Het
Zranb2 A T 3: 157,242,370 (GRCm39) probably null 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
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'- GGGACTACTGAGGATCCAAAAC -3'
(R):5'- GGCAGGTACGTATTCAATGCC -3'

Sequencing Primer
(F):5'- GGACTACTGAGGATCCAAAACAAAAC -3'
(R):5'- GGTACGTATTCAATGCCCAATATCC -3'
Posted On 2019-05-13