Incidental Mutation 'R1804:Adgrb1'
ID 203412
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission 039834-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1804 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74401389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 128 (D128E)
Ref Sequence ENSEMBL: ENSMUSP00000140959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000186360] [ENSMUST00000187485]
AlphaFold Q3UHD1
Predicted Effect probably damaging
Transcript: ENSMUST00000042035
AA Change: D128E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: D128E

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: D128E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: D128E

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 damaging
Transcript: ENSMUST00000187485
AA Change: D128E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140959
Gene: ENSMUSG00000034730
AA Change: D128E

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 0.6467 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.5%
  • 20x: 89.8%
Validation Efficiency 96% (77/80)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,400 (GRCm39) Y220H probably benign Het
4930579C12Rik T C 9: 89,034,113 (GRCm39) noncoding transcript Het
Abcc8 T C 7: 45,769,903 (GRCm39) S871G probably benign Het
Acly T C 11: 100,406,731 (GRCm39) Y288C probably damaging Het
Alms1 C T 6: 85,598,257 (GRCm39) Q1497* probably null Het
Bltp2 A G 11: 78,164,295 (GRCm39) H1165R probably damaging Het
Cacna1c G A 6: 118,664,007 (GRCm39) T688M probably damaging Het
Ccdc7a A T 8: 129,715,247 (GRCm39) L279* probably null Het
Cep135 A G 5: 76,784,779 (GRCm39) E958G probably benign Het
Clec4n G T 6: 123,206,981 (GRCm39) V2L possibly damaging Het
Col28a1 C T 6: 8,164,612 (GRCm39) probably null Het
Dcaf5 A G 12: 80,386,603 (GRCm39) S508P probably benign Het
Dlgap2 C A 8: 14,777,809 (GRCm39) N351K possibly damaging Het
Dnah8 T A 17: 30,927,381 (GRCm39) Y1346N probably benign Het
Dqx1 T C 6: 83,037,303 (GRCm39) V322A probably damaging Het
Ebf3 A C 7: 136,802,250 (GRCm39) L412V possibly damaging Het
Epha5 T C 5: 84,479,674 (GRCm39) N110S probably benign Het
Fcgbp T C 7: 27,785,564 (GRCm39) C334R probably benign Het
Glp1r T A 17: 31,149,687 (GRCm39) probably null Het
Gm4952 G T 19: 12,595,784 (GRCm39) R58L probably damaging Het
Gm7579 G A 7: 141,765,675 (GRCm39) C27Y unknown Het
Golm1 T A 13: 59,790,203 (GRCm39) probably null Het
Gucy2g T A 19: 55,198,741 (GRCm39) I801F probably benign Het
H2-D1 T C 17: 35,482,528 (GRCm39) Y83H probably damaging Het
Homez A T 14: 55,094,598 (GRCm39) I19N probably damaging Het
Hoxa5 T C 6: 52,179,628 (GRCm39) K249R probably damaging Het
Hsd17b4 A T 18: 50,311,051 (GRCm39) N550Y probably damaging Het
Ipo4 A T 14: 55,866,913 (GRCm39) N668K probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klb A G 5: 65,537,196 (GRCm39) D842G probably damaging Het
Minar1 T A 9: 89,485,152 (GRCm39) M82L possibly damaging Het
Mmp21 G T 7: 133,280,611 (GRCm39) P120T probably benign Het
Mroh7 T A 4: 106,551,589 (GRCm39) I918F possibly damaging Het
Muc5b A G 7: 141,417,517 (GRCm39) T3488A possibly damaging Het
Npc1 C T 18: 12,356,145 (GRCm39) C42Y probably damaging Het
Ogdh A G 11: 6,288,565 (GRCm39) Y214C probably damaging Het
Or2q1 G A 6: 42,795,155 (GRCm39) C250Y possibly damaging Het
Or4k15c A T 14: 50,321,359 (GRCm39) W260R probably damaging Het
Or4k35 T C 2: 111,100,275 (GRCm39) M146V probably benign Het
Or5al1 G T 2: 85,990,417 (GRCm39) T99N probably benign Het
Or8d23 A G 9: 38,841,946 (GRCm39) T160A possibly damaging Het
Phtf1 A G 3: 103,894,883 (GRCm39) probably benign Het
Plb1 A G 5: 32,511,041 (GRCm39) N1302S possibly damaging Het
Prex2 A G 1: 11,202,566 (GRCm39) K492E probably damaging Het
Prkaa1 A G 15: 5,208,259 (GRCm39) D509G probably benign Het
Rims2 C T 15: 39,300,439 (GRCm39) Q57* probably null Het
Rnf40 T C 7: 127,195,120 (GRCm39) V411A possibly damaging Het
Rraga A G 4: 86,494,681 (GRCm39) I176V probably damaging Het
Rrm2 T C 12: 24,758,611 (GRCm39) I51T probably benign Het
Serpina3a T A 12: 104,084,675 (GRCm39) probably benign Het
Skint7 T C 4: 111,839,209 (GRCm39) W168R probably damaging Het
Slc27a4 A G 2: 29,701,279 (GRCm39) M357V probably benign Het
Slc4a3 A G 1: 75,528,361 (GRCm39) H452R probably damaging Het
Smc1b A T 15: 85,011,991 (GRCm39) I127K possibly damaging Het
Snap91 T A 9: 86,665,470 (GRCm39) M383L probably benign Het
Taf6l A T 19: 8,750,998 (GRCm39) L52Q probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tas2r124 A G 6: 132,732,488 (GRCm39) I266V probably benign Het
Tesk2 T C 4: 116,657,818 (GRCm39) probably benign Het
Tmem131l T G 3: 83,817,786 (GRCm39) Q1237P possibly damaging Het
Tmem67 A G 4: 12,045,789 (GRCm39) probably null Het
Tnfaip8 T A 18: 50,223,728 (GRCm39) C179S probably damaging Het
Ush2a G A 1: 188,365,926 (GRCm39) probably null Het
Vps13b A T 15: 35,917,283 (GRCm39) E3709V probably damaging Het
Wdr7 A T 18: 63,998,511 (GRCm39) S1153C probably damaging Het
Zc2hc1b A C 10: 13,047,012 (GRCm39) probably benign Het
Zfp438 A G 18: 5,213,689 (GRCm39) I423T probably damaging Het
Zfp592 C A 7: 80,673,443 (GRCm39) P136T probably damaging Het
Zfp783 T A 6: 47,922,819 (GRCm39) noncoding transcript Het
Zfp804b A T 5: 6,821,756 (GRCm39) S400T 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
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'- TGCAGGGAAAGTTCTTCGGC -3'
(R):5'- AGCATCTGACAGGCAGCATG -3'

Sequencing Primer
(F):5'- CAGGGAAAGTTCTTCGGCTACTTC -3'
(R):5'- AGCATGGCTGGGGTTGC -3'
Posted On 2014-06-23