Incidental Mutation 'R7209:Adgrb1'
ID 560963
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission 045338-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7209 (G1)
Quality Score 181.009
Status Validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74441797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 966 (V966G)
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 possibly damaging
Transcript: ENSMUST00000042035
AA Change: V966G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: V966G

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: ENSMUST00000170845
AA Change: V26G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127122
Gene: ENSMUSG00000034730
AA Change: V26G

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 possibly damaging
Transcript: ENSMUST00000185682
AA Change: V26G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139428
Gene: ENSMUSG00000034730
AA Change: V26G

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: V966G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: V966G

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 possibly damaging
Transcript: ENSMUST00000187599
AA Change: V26G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140831
Gene: ENSMUSG00000034730
AA Change: V26G

DomainStartEndE-ValueType
Pfam:7tm_2 4 135 6.4e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000189353
AA Change: V26G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140889
Gene: ENSMUSG00000034730
AA Change: V26G

DomainStartEndE-ValueType
Pfam:7tm_2 4 147 3.5e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190524
AA Change: V26G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140407
Gene: ENSMUSG00000034730
AA Change: V26G

DomainStartEndE-ValueType
Pfam:7tm_2 4 112 4.3e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,767,268 (GRCm39) Y61H probably damaging Het
Adh5 G A 3: 138,148,909 (GRCm39) probably benign Het
Akr1b8 T C 6: 34,333,207 (GRCm39) V28A probably damaging Het
Apbb1 T A 7: 105,215,292 (GRCm39) I450F probably damaging Het
Arhgap23 C T 11: 97,366,911 (GRCm39) T1064I probably damaging Het
Arhgap23 G C 11: 97,383,273 (GRCm39) probably null Het
Atg4b A G 1: 93,702,955 (GRCm39) I128M probably damaging Het
Baat A T 4: 49,503,065 (GRCm39) I19N probably damaging Het
Bspry T G 4: 62,404,852 (GRCm39) I216S possibly damaging Het
Commd9 T A 2: 101,725,483 (GRCm39) S19T possibly damaging Het
Cr2 A G 1: 194,851,032 (GRCm39) C145R probably damaging Het
Cyp2c68 A G 19: 39,677,649 (GRCm39) L447P probably damaging Het
Depdc1b T C 13: 108,519,389 (GRCm39) M333T possibly damaging Het
Dhx9 T C 1: 153,340,369 (GRCm39) T710A possibly damaging Het
Dnah5 T C 15: 28,459,371 (GRCm39) V4530A possibly damaging Het
Dohh T A 10: 81,221,874 (GRCm39) H89Q probably damaging Het
Dop1b T A 16: 93,566,733 (GRCm39) N1171K probably benign Het
Dscam T C 16: 96,451,544 (GRCm39) probably null Het
Entpd5 T A 12: 84,443,702 (GRCm39) S14C probably benign Het
Eqtn G A 4: 94,813,806 (GRCm39) S125F probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fgf18 A T 11: 33,084,315 (GRCm39) D46E probably benign Het
Foxa1 T A 12: 57,590,077 (GRCm39) M48L probably benign Het
Gabrg1 C A 5: 70,911,513 (GRCm39) C417F probably damaging Het
Glrp1 T A 1: 88,431,004 (GRCm39) Q122L unknown Het
Gm5622 A G 14: 51,893,363 (GRCm39) I97V possibly damaging Het
Gusb A G 5: 130,027,387 (GRCm39) V306A probably benign Het
Hars1 A G 18: 36,906,593 (GRCm39) S126P probably benign Het
Herc1 A G 9: 66,292,314 (GRCm39) S356G possibly damaging Het
Hydin C A 8: 111,216,424 (GRCm39) Y1336* probably null Het
Iftap T C 2: 101,396,727 (GRCm39) *217W probably null Het
Kin T C 2: 10,096,564 (GRCm39) Y138H possibly damaging Het
Lypd2 C T 15: 74,604,266 (GRCm39) V101M probably benign Het
Madcam1 A T 10: 79,500,892 (GRCm39) T70S possibly damaging Het
Man1a2 A G 3: 100,554,395 (GRCm39) C112R unknown Het
Mia2 T A 12: 59,201,176 (GRCm39) V198E possibly damaging Het
Mpdz C T 4: 81,225,114 (GRCm39) V1438M possibly damaging Het
Mtif2 G A 11: 29,479,996 (GRCm39) V21M probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nln G A 13: 104,209,406 (GRCm39) Q56* probably null Het
Nlrp4b T C 7: 10,444,297 (GRCm39) V82A probably benign Het
Obscn C A 11: 58,975,933 (GRCm39) E2065* probably null Het
Or10g1 A G 14: 52,647,550 (GRCm39) C260R possibly damaging Het
Pilrb2 C T 5: 137,869,126 (GRCm39) probably null Het
Plekhh1 C A 12: 79,097,150 (GRCm39) D99E probably benign Het
Polr2b T A 5: 77,491,026 (GRCm39) F956I probably damaging Het
Ppp3cc A G 14: 70,504,947 (GRCm39) F20L probably benign Het
Prmt9 T C 8: 78,291,627 (GRCm39) V333A probably benign Het
Psd4 T C 2: 24,287,357 (GRCm39) S430P probably damaging Het
Relch C A 1: 105,678,082 (GRCm39) P1136T probably damaging Het
Rrp12 A C 19: 41,861,388 (GRCm39) V973G possibly damaging Het
Rxfp2 A G 5: 149,976,563 (GRCm39) probably null Het
S100a6 G A 3: 90,521,095 (GRCm39) A8T possibly damaging Het
Sgsm2 C A 11: 74,745,151 (GRCm39) G717V probably damaging Het
Sipa1 A G 19: 5,705,003 (GRCm39) Y531H probably damaging Het
Slc45a1 A C 4: 150,719,669 (GRCm39) probably null Het
Spopfm3 A T 3: 94,106,012 (GRCm39) Q110L probably benign Het
Srbd1 C A 17: 86,308,948 (GRCm39) L743F probably damaging Het
Taar2 A T 10: 23,816,597 (GRCm39) I46F possibly damaging Het
Tmem241 A T 18: 12,237,229 (GRCm39) V69D probably damaging Het
Tns1 T C 1: 73,993,074 (GRCm39) S535G possibly damaging Het
Trgc3 A G 13: 19,445,334 (GRCm39) N94S probably benign Het
Ttc34 C A 4: 154,923,585 (GRCm39) P98Q probably damaging Het
Ubr1 C A 2: 120,693,246 (GRCm39) R1720L probably benign Het
Ubr3 T A 2: 69,846,478 (GRCm39) D1597E probably benign Het
Unc79 T C 12: 103,091,883 (GRCm39) M1930T probably benign Het
Vmn2r100 A T 17: 19,751,576 (GRCm39) I603F not run Het
Vps26b A T 9: 26,921,288 (GRCm39) S304T probably benign Het
Zfp952 A T 17: 33,222,444 (GRCm39) T308S 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
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'- GTGAGGACTATTGCCAGGTG -3'
(R):5'- GCTGGTCCAGAGTAGATGGTAC -3'

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