Incidental Mutation 'R9098:Adgrb1'
ID 691508
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission 068913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9098 (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 74415189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 638 (D638G)
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: D638G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: D638G

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: D638G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: D638G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (72/74)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,633,211 (GRCm39) D168V probably damaging Het
Abcb4 A T 5: 9,008,441 (GRCm39) D1203V probably damaging Het
Acat2 G A 17: 13,178,979 (GRCm39) probably benign Het
Adam3 C T 8: 25,179,484 (GRCm39) C611Y probably damaging Het
Adra1b T C 11: 43,667,218 (GRCm39) N340D probably damaging Het
Ankrd31 A G 13: 96,916,879 (GRCm39) H131R probably damaging Het
Aoc2 T C 11: 101,217,164 (GRCm39) S416P possibly damaging Het
Armc8 G A 9: 99,387,362 (GRCm39) R419* probably null Het
Atp6v1h T G 1: 5,163,638 (GRCm39) V90G probably damaging Het
Avl9 T C 6: 56,707,628 (GRCm39) V191A probably benign Het
Bsn G A 9: 107,990,173 (GRCm39) P1860S possibly damaging Het
Btd A G 14: 31,384,233 (GRCm39) K73R probably benign Het
Cd22 T C 7: 30,567,391 (GRCm39) K731R probably benign Het
Chmp7 C A 14: 69,956,911 (GRCm39) L332F probably damaging Het
Cirop T G 14: 54,932,686 (GRCm39) S393R probably damaging Het
Cldn11 A G 3: 31,217,276 (GRCm39) E148G probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cnbd1 A T 4: 18,886,061 (GRCm39) Y319* probably null Het
Cnnm4 A G 1: 36,511,170 (GRCm39) T133A probably benign Het
Cpeb4 A T 11: 31,822,679 (GRCm39) E131V probably benign Het
Ctns A G 11: 73,078,561 (GRCm39) probably null Het
Dhx36 C A 3: 62,414,142 (GRCm39) Q73H probably benign Het
Dhx36 C A 3: 62,414,141 (GRCm39) E74* probably null Het
Dnah5 A G 15: 28,420,107 (GRCm39) T3802A Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Flnc C T 6: 29,455,518 (GRCm39) Q2056* probably null Het
Fmo9 T C 1: 166,492,199 (GRCm39) D408G possibly damaging Het
Gipr C T 7: 18,897,495 (GRCm39) S117N unknown Het
Gm14412 T A 2: 177,006,356 (GRCm39) H513L probably damaging Het
Gm21663 G C 5: 26,147,167 (GRCm39) C46W probably benign Het
Gucy1a2 A T 9: 3,634,489 (GRCm39) I178L probably benign Het
Htr1b A T 9: 81,514,481 (GRCm39) L42Q Het
Htr2b T C 1: 86,027,481 (GRCm39) T342A probably damaging Het
Jkampl T C 6: 73,446,517 (GRCm39) T11A probably benign Het
Jph2 C T 2: 163,181,473 (GRCm39) V564M probably damaging Het
Kcnmb1 A G 11: 33,914,806 (GRCm39) T36A probably damaging Het
Krit1 A C 5: 3,863,135 (GRCm39) K310N probably benign Het
Lama1 C T 17: 68,111,508 (GRCm39) T2253M Het
Lpar6 C T 14: 73,476,233 (GRCm39) L65F probably damaging Het
Megf6 G A 4: 154,354,160 (GRCm39) G1355R probably damaging Het
Mmp3 T A 9: 7,446,936 (GRCm39) Y39N probably damaging Het
Mrtfb A G 16: 13,221,053 (GRCm39) H743R probably benign Het
Ms4a18 C A 19: 10,990,741 (GRCm39) V118F Het
Mthfr G A 4: 148,126,082 (GRCm39) S51N probably benign Het
Muc16 T A 9: 18,554,975 (GRCm39) T3773S unknown Het
Mus81 T A 19: 5,534,032 (GRCm39) K400* probably null Het
Naaladl2 A T 3: 24,487,344 (GRCm39) D192E probably benign Het
Naip5 T C 13: 100,366,127 (GRCm39) D329G possibly damaging Het
Nek11 T A 9: 105,170,856 (GRCm39) H393L probably benign Het
Nmt2 T A 2: 3,306,315 (GRCm39) probably benign Het
Nmur2 T C 11: 55,920,408 (GRCm39) D279G possibly damaging Het
Nol4l C A 2: 153,312,630 (GRCm39) R226L probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,379 (GRCm39) D119G probably damaging Het
Or1o2 T C 17: 37,542,961 (GRCm39) Y100C probably benign Het
Or5ak22 T C 2: 85,229,995 (GRCm39) N294S probably damaging Het
Palm A G 10: 79,654,988 (GRCm39) T249A probably benign Het
Pramel22 A T 4: 143,381,097 (GRCm39) Y309N probably benign Het
Rhobtb3 A G 13: 76,087,702 (GRCm39) I95T probably damaging Het
Rnpep A T 1: 135,206,559 (GRCm39) F178L possibly damaging Het
Rsl1d1 A G 16: 11,019,227 (GRCm39) S105P probably damaging Het
Rxra C T 2: 27,638,756 (GRCm39) T253I possibly damaging Het
Schip1 A G 3: 67,972,318 (GRCm39) D15G Het
Sis T A 3: 72,844,578 (GRCm39) I719F possibly damaging Het
Snx18 A G 13: 113,754,310 (GRCm39) S208P probably benign Het
Srcap T C 7: 127,151,816 (GRCm39) V2125A probably damaging Het
Stx7 C T 10: 24,058,724 (GRCm39) Q199* probably null Het
Syt6 T C 3: 103,492,895 (GRCm39) I134T probably damaging Het
Tlr12 A G 4: 128,510,870 (GRCm39) M460T probably benign Het
Tnni3k T C 3: 154,647,314 (GRCm39) T398A possibly damaging Het
Tspan4 T C 7: 141,071,816 (GRCm39) S188P probably benign Het
Ubap2l A G 3: 89,909,756 (GRCm39) S1025P unknown Het
Ubl7 A G 9: 57,829,035 (GRCm39) D219G probably benign Het
Vmn2r115 C A 17: 23,564,803 (GRCm39) T230K probably benign Het
Vmn2r95 T A 17: 18,660,167 (GRCm39) M193K possibly damaging Het
Zfp639 A G 3: 32,573,885 (GRCm39) E170G probably damaging Het
Zfy1 A G Y: 725,987 (GRCm39) S593P possibly damaging Het
Zscan4-ps1 T A 7: 10,799,495 (GRCm39) T465S 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
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
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'- GGTCCCAAACAGAGCACTTC -3'
(R):5'- TCTGGATGACCTCTGAGACC -3'

Sequencing Primer
(F):5'- AGAGCACTTCTGCCTGAGG -3'
(R):5'- CTGAGCCTTTGCCAGGTG -3'
Posted On 2021-12-30