Incidental Mutation 'R0336:Adgrb1'
ID 34145
Institutional Source Beutler Lab
Gene Symbol Adgrb1
Ensembl Gene ENSMUSG00000034730
Gene Name adhesion G protein-coupled receptor B1
Synonyms B830018M07Rik, Bai1
MMRRC Submission 038545-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0336 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 74388045-74461314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74458998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 427 (I427V)
Ref Sequence ENSEMBL: ENSMUSP00000139428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000170845] [ENSMUST00000185682] [ENSMUST00000186360] [ENSMUST00000187485]
AlphaFold Q3UHD1
Predicted Effect probably benign
Transcript: ENSMUST00000042035
AA Change: I1367V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: I1367V

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: I427V

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127122
Gene: ENSMUSG00000034730
AA Change: I427V

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: I427V

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139428
Gene: ENSMUSG00000034730
AA Change: I427V

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 noncoding transcript
Transcript: ENSMUST00000186095
Predicted Effect probably benign
Transcript: ENSMUST00000186360
SMART Domains Protein: ENSMUSP00000140362
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
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 noncoding transcript
Transcript: ENSMUST00000187639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230935
Meta Mutation Damage Score 0.0596 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.1%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,481 (GRCm39) I2743V probably benign Het
Adamts16 A G 13: 70,939,913 (GRCm39) probably benign Het
Arhgef1 T A 7: 24,621,382 (GRCm39) F510I possibly damaging Het
B3glct A G 5: 149,670,057 (GRCm39) D342G probably damaging Het
Bcl2a1c G T 9: 114,159,353 (GRCm39) V44F probably damaging Het
Brca1 A G 11: 101,414,819 (GRCm39) V1105A probably benign Het
Ccn5 C A 2: 163,674,242 (GRCm39) A214D probably damaging Het
Cep135 A G 5: 76,749,349 (GRCm39) H272R probably benign Het
Coa8 T C 12: 111,700,092 (GRCm39) probably benign Het
Cog1 A C 11: 113,553,076 (GRCm39) H365P probably benign Het
Col12a1 A T 9: 79,609,627 (GRCm39) L293Q probably damaging Het
Col18a1 A G 10: 76,894,570 (GRCm39) L1493P probably damaging Het
Ctsh A G 9: 89,957,791 (GRCm39) Y290C probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb39 G T 8: 19,102,985 (GRCm39) H37N possibly damaging Het
Epha3 A G 16: 63,387,011 (GRCm39) I875T probably damaging Het
Fbrsl1 A G 5: 110,595,817 (GRCm39) S73P probably damaging Het
Fga T C 3: 82,938,164 (GRCm39) S180P probably damaging Het
Fndc1 C T 17: 7,983,939 (GRCm39) R1329Q unknown Het
Fyn C A 10: 39,402,897 (GRCm39) T223K possibly damaging Het
Galnt6 A T 15: 100,597,087 (GRCm39) S360T probably damaging Het
Grsf1 C A 5: 88,811,012 (GRCm39) V336F probably damaging Het
Hip1 A T 5: 135,457,467 (GRCm39) Y720N probably benign Het
Hivep3 G A 4: 119,961,044 (GRCm39) E1700K probably damaging Het
Ifna6 T C 4: 88,746,178 (GRCm39) S176P probably damaging Het
Lilrb4b T A 10: 51,357,389 (GRCm39) L75Q probably benign Het
Lrig3 C T 10: 125,802,574 (GRCm39) T77I probably benign Het
Mpped1 C T 15: 83,720,483 (GRCm39) P135L probably damaging Het
Mss51 T A 14: 20,533,254 (GRCm39) I406F possibly damaging Het
Mybpc2 T C 7: 44,155,040 (GRCm39) N956D probably damaging Het
Or4a27 T C 2: 88,559,498 (GRCm39) I148M possibly damaging Het
Podxl2 G A 6: 88,826,577 (GRCm39) T243I probably benign Het
Polr2a C T 11: 69,627,719 (GRCm39) R1396Q possibly damaging Het
Pramel51 T C 12: 88,144,961 (GRCm39) I122V probably benign Het
Pygm C T 19: 6,438,788 (GRCm39) R205W probably damaging Het
Rfx3 A G 19: 27,783,662 (GRCm39) M428T probably benign Het
Ric1 A T 19: 29,565,193 (GRCm39) T647S probably damaging Het
Rictor G A 15: 6,806,234 (GRCm39) probably null Het
Rnf38 A T 4: 44,152,350 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,935,892 (GRCm39) I41K probably damaging Het
St8sia4 T A 1: 95,581,283 (GRCm39) D153V probably benign Het
Stk33 T C 7: 108,930,681 (GRCm39) N226S probably benign Het
Strn3 A G 12: 51,708,391 (GRCm39) probably null Het
Tlr6 G T 5: 65,111,289 (GRCm39) N539K probably benign Het
Tmem129 G T 5: 33,812,946 (GRCm39) P134Q probably damaging Het
Tmem94 A G 11: 115,678,211 (GRCm39) I145V probably benign Het
Trap1 A C 16: 3,862,490 (GRCm39) V596G probably damaging Het
Tspan2 A G 3: 102,642,343 (GRCm39) I11V probably null Het
Ttc23 A T 7: 67,312,231 (GRCm39) H46L probably benign Het
Txnip T A 3: 96,467,295 (GRCm39) D292E probably benign Het
Vmn1r121 T A 7: 20,832,387 (GRCm39) I18F possibly damaging Het
Vmn1r61 G A 7: 5,614,066 (GRCm39) H83Y probably benign Het
Vmn1r82 T C 7: 12,039,248 (GRCm39) S174P probably benign Het
Vmn2r79 A C 7: 86,651,287 (GRCm39) T229P probably benign Het
Vps13b T G 15: 35,455,279 (GRCm39) Y729* probably null Het
Xdh C T 17: 74,229,458 (GRCm39) V332M possibly damaging Het
Xkr5 C A 8: 18,990,652 (GRCm39) R205L possibly damaging Het
Zc3h4 T C 7: 16,169,103 (GRCm39) S1071P unknown Het
Zc3h6 A G 2: 128,857,332 (GRCm39) H617R possibly damaging Het
Zfp597 A G 16: 3,684,243 (GRCm39) V171A probably benign Het
Zfp709 T C 8: 72,644,449 (GRCm39) F626S probably damaging Het
Zfp944 C A 17: 22,558,009 (GRCm39) D413Y probably damaging Het
Zfp979 A C 4: 147,697,592 (GRCm39) S372R 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
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
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'- AGCTAATGTGTCCAAGCTGCACC -3'
(R):5'- TGCCTTGGCAGACTCTAAACCATTC -3'

Sequencing Primer
(F):5'- CTGCACCTGCACGGTTC -3'
(R):5'- ggtggtgggggtatggg -3'
Posted On 2013-05-09