Incidental Mutation 'R7511:Adgrb2'
ID 582083
Institutional Source Beutler Lab
Gene Symbol Adgrb2
Ensembl Gene ENSMUSG00000028782
Gene Name adhesion G protein-coupled receptor B2
Synonyms Bai2
MMRRC Submission 045584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7511 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129878663-129916426 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129915904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1503 (M1503L)
Ref Sequence ENSEMBL: ENSMUSP00000030571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030571] [ENSMUST00000097868] [ENSMUST00000106015] [ENSMUST00000106017] [ENSMUST00000106018] [ENSMUST00000120204] [ENSMUST00000121049]
AlphaFold Q8CGM1
Predicted Effect probably benign
Transcript: ENSMUST00000030571
AA Change: M1503L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782
AA Change: M1503L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 160 173 N/A INTRINSIC
low complexity region 197 208 N/A INTRINSIC
low complexity region 272 278 N/A INTRINSIC
TSP1 303 353 9.52e-11 SMART
TSP1 358 408 1.86e-13 SMART
TSP1 413 463 9.89e-9 SMART
TSP1 469 519 3.09e-10 SMART
HormR 521 587 3.27e-18 SMART
Pfam:GAIN 600 842 1.6e-41 PFAM
GPS 864 917 2.57e-19 SMART
Pfam:7tm_2 923 1192 1.7e-67 PFAM
low complexity region 1357 1371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097868
AA Change: M1470L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095480
Gene: ENSMUSG00000028782
AA Change: M1470L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 160 173 N/A INTRINSIC
low complexity region 197 208 N/A INTRINSIC
low complexity region 272 278 N/A INTRINSIC
TSP1 303 353 9.52e-11 SMART
TSP1 358 408 1.86e-13 SMART
TSP1 413 463 9.89e-9 SMART
TSP1 469 519 3.09e-10 SMART
HormR 521 587 3.27e-18 SMART
Pfam:DUF3497 597 859 1.2e-54 PFAM
GPS 864 917 2.57e-19 SMART
Pfam:7tm_2 923 1159 2.6e-69 PFAM
low complexity region 1324 1338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106015
SMART Domains Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 160 173 N/A INTRINSIC
low complexity region 197 208 N/A INTRINSIC
low complexity region 272 278 N/A INTRINSIC
TSP1 303 353 9.52e-11 SMART
TSP1 358 408 1.86e-13 SMART
TSP1 413 463 9.89e-9 SMART
TSP1 469 519 3.09e-10 SMART
HormR 521 587 3.27e-18 SMART
Pfam:DUF3497 597 859 6.4e-55 PFAM
GPS 864 917 2.57e-19 SMART
Pfam:7tm_2 923 1192 4.1e-68 PFAM
low complexity region 1357 1371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106017
SMART Domains Protein: ENSMUSP00000101638
Gene: ENSMUSG00000028782

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 160 173 N/A INTRINSIC
low complexity region 197 208 N/A INTRINSIC
low complexity region 272 278 N/A INTRINSIC
TSP1 303 353 9.52e-11 SMART
TSP1 358 408 1.86e-13 SMART
TSP1 413 463 9.89e-9 SMART
TSP1 469 519 3.09e-10 SMART
HormR 521 587 3.27e-18 SMART
Pfam:DUF3497 597 859 6.3e-55 PFAM
GPS 864 917 2.57e-19 SMART
Pfam:7tm_2 923 1180 4.6e-68 PFAM
low complexity region 1345 1359 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106018
AA Change: M1415L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101639
Gene: ENSMUSG00000028782
AA Change: M1415L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 160 173 N/A INTRINSIC
low complexity region 197 208 N/A INTRINSIC
low complexity region 272 278 N/A INTRINSIC
TSP1 303 353 1.86e-13 SMART
TSP1 358 408 9.89e-9 SMART
TSP1 414 464 3.09e-10 SMART
HormR 466 532 3.27e-18 SMART
Pfam:DUF3497 542 804 1.1e-54 PFAM
GPS 809 862 2.57e-19 SMART
Pfam:7tm_2 868 1104 2.4e-69 PFAM
low complexity region 1269 1283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120204
SMART Domains Protein: ENSMUSP00000112524
Gene: ENSMUSG00000028782

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 160 173 N/A INTRINSIC
low complexity region 197 208 N/A INTRINSIC
low complexity region 272 278 N/A INTRINSIC
TSP1 303 353 9.52e-11 SMART
TSP1 358 408 9.89e-9 SMART
TSP1 414 464 3.09e-10 SMART
HormR 466 532 3.27e-18 SMART
Pfam:DUF3497 542 804 8.2e-55 PFAM
GPS 809 862 2.57e-19 SMART
Pfam:7tm_2 868 1104 9.6e-70 PFAM
low complexity region 1269 1283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121049
SMART Domains Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 117 127 N/A INTRINSIC
low complexity region 160 173 N/A INTRINSIC
low complexity region 197 208 N/A INTRINSIC
low complexity region 272 278 N/A INTRINSIC
TSP1 303 353 1.86e-13 SMART
TSP1 358 408 9.89e-9 SMART
TSP1 414 464 3.09e-10 SMART
HormR 466 532 3.27e-18 SMART
Pfam:DUF3497 542 804 6.1e-55 PFAM
GPS 809 862 2.57e-19 SMART
Pfam:7tm_2 868 1137 3.8e-68 PFAM
low complexity region 1302 1316 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene show a lessening of depression like behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,189,954 (GRCm39) K327E probably damaging Het
Adamts14 G A 10: 61,054,307 (GRCm39) A572V possibly damaging Het
Add2 A G 6: 86,075,597 (GRCm39) N249D probably benign Het
Alms1 A G 6: 85,586,407 (GRCm39) K421E unknown Het
B3galt5 A G 16: 96,116,916 (GRCm39) K183R possibly damaging Het
Braf T C 6: 39,665,187 (GRCm39) I94M probably damaging Het
Cacna1a A G 8: 85,294,311 (GRCm39) E1158G possibly damaging Het
Ccdc177 C A 12: 80,804,457 (GRCm39) V606L unknown Het
Ccdc38 C A 10: 93,398,662 (GRCm39) L147I possibly damaging Het
Ccdc83 T C 7: 89,886,130 (GRCm39) N210D possibly damaging Het
Cdh20 T C 1: 109,925,583 (GRCm39) probably benign Het
Coro1b T A 19: 4,202,525 (GRCm39) Y338N probably damaging Het
Crlf3 A C 11: 79,954,812 (GRCm39) probably null Het
Crnn A T 3: 93,056,723 (GRCm39) K503M probably damaging Het
Cul5 T A 9: 53,537,269 (GRCm39) N521I probably damaging Het
Cyp2c50 T A 19: 40,080,634 (GRCm39) probably null Het
Dis3 T C 14: 99,337,042 (GRCm39) H23R possibly damaging Het
Dock7 A T 4: 98,949,519 (GRCm39) L441H Het
Dock7 C A 4: 98,967,992 (GRCm39) E162* probably null Het
Dpp9 A T 17: 56,512,611 (GRCm39) M174K possibly damaging Het
Dtd1 A G 2: 144,459,147 (GRCm39) D57G probably benign Het
F3 A G 3: 121,525,206 (GRCm39) E149G probably damaging Het
Glp2r C T 11: 67,648,417 (GRCm39) R95K probably damaging Het
Gpr107 T A 2: 31,068,358 (GRCm39) F273L probably benign Het
Gria1 A T 11: 57,174,451 (GRCm39) I647F probably damaging Het
Heatr5a A C 12: 51,926,217 (GRCm39) I1878S possibly damaging Het
Hsf2 G T 10: 57,380,653 (GRCm39) C230F probably benign Het
Igfbp2 T G 1: 72,891,164 (GRCm39) M254R probably damaging Het
Kifc2 C A 15: 76,545,537 (GRCm39) Q95K possibly damaging Het
Lnx1 T G 5: 74,780,972 (GRCm39) N183T probably benign Het
Ltn1 G T 16: 87,205,716 (GRCm39) T983K possibly damaging Het
Macf1 A T 4: 123,367,093 (GRCm39) V2556D possibly damaging Het
Map4k3 A G 17: 80,905,077 (GRCm39) V738A possibly damaging Het
Mtmr12 T G 15: 12,265,681 (GRCm39) Y466D possibly damaging Het
Musk A G 4: 58,333,672 (GRCm39) I256V probably benign Het
Ociad1 T C 5: 73,452,338 (GRCm39) F43S probably damaging Het
Or10g9b A T 9: 39,918,229 (GRCm39) S5R possibly damaging Het
Or4k5 A G 14: 50,385,713 (GRCm39) L206P probably damaging Het
Pah G A 10: 87,390,249 (GRCm39) A132T probably damaging Het
Pak5 G A 2: 135,925,244 (GRCm39) S686F possibly damaging Het
Pi4kb T C 3: 94,896,623 (GRCm39) S307P probably benign Het
Plxna1 T C 6: 89,318,889 (GRCm39) T645A possibly damaging Het
Pold1 C T 7: 44,191,614 (GRCm39) R124K possibly damaging Het
Pramel27 T A 4: 143,573,116 (GRCm39) I3N possibly damaging Het
Prdm10 T C 9: 31,289,777 (GRCm39) Y1153H probably damaging Het
Ptk2b T C 14: 66,391,693 (GRCm39) N947S possibly damaging Het
Rad54b A G 4: 11,578,956 (GRCm39) probably null Het
S1pr4 A G 10: 81,335,623 (GRCm39) probably benign Het
Sec23b A G 2: 144,432,269 (GRCm39) K760E probably benign Het
Sergef T A 7: 46,264,170 (GRCm39) N239I probably damaging Het
Serpinb9 C A 13: 33,192,054 (GRCm39) N78K probably benign Het
Sntb1 G T 15: 55,511,347 (GRCm39) F412L possibly damaging Het
Stradb T A 1: 59,032,108 (GRCm39) F294L probably damaging Het
Ttll11 G A 2: 35,793,046 (GRCm39) R266C probably damaging Het
Ttn A T 2: 76,624,882 (GRCm39) M15232K possibly damaging Het
Tubgcp2 T C 7: 139,584,793 (GRCm39) I547M probably benign Het
Vgf C A 5: 137,060,245 (GRCm39) P136T unknown Het
Vmn1r36 T A 6: 66,693,914 (GRCm39) probably benign Het
Vmn2r102 T C 17: 19,901,405 (GRCm39) S511P probably damaging Het
Wdr27 C T 17: 15,103,965 (GRCm39) V714I probably benign Het
Zbed6 T A 1: 133,586,981 (GRCm39) I119L probably benign Het
Zfp229 A G 17: 21,964,045 (GRCm39) S92G probably benign Het
Zfp710 C T 7: 79,732,250 (GRCm39) Q476* probably null Het
Zfp808 A G 13: 62,320,637 (GRCm39) N622S probably benign Het
Other mutations in Adgrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Adgrb2 APN 4 129,912,598 (GRCm39) missense probably damaging 1.00
IGL00425:Adgrb2 APN 4 129,912,865 (GRCm39) missense probably benign 0.09
IGL00490:Adgrb2 APN 4 129,905,665 (GRCm39) missense possibly damaging 0.82
IGL00928:Adgrb2 APN 4 129,886,096 (GRCm39) missense probably benign
IGL01353:Adgrb2 APN 4 129,906,093 (GRCm39) missense probably damaging 1.00
IGL01521:Adgrb2 APN 4 129,886,085 (GRCm39) missense probably damaging 0.98
IGL01590:Adgrb2 APN 4 129,907,606 (GRCm39) splice site probably benign
IGL01813:Adgrb2 APN 4 129,906,359 (GRCm39) missense probably benign 0.00
IGL01831:Adgrb2 APN 4 129,903,187 (GRCm39) missense probably damaging 1.00
IGL01939:Adgrb2 APN 4 129,885,925 (GRCm39) missense probably damaging 0.99
IGL01960:Adgrb2 APN 4 129,906,177 (GRCm39) splice site probably benign
IGL01993:Adgrb2 APN 4 129,912,635 (GRCm39) missense possibly damaging 0.94
IGL02646:Adgrb2 APN 4 129,913,075 (GRCm39) critical splice donor site probably null
IGL02655:Adgrb2 APN 4 129,885,972 (GRCm39) nonsense probably null
IGL02695:Adgrb2 APN 4 129,912,625 (GRCm39) missense probably damaging 1.00
IGL02998:Adgrb2 APN 4 129,912,862 (GRCm39) missense probably benign 0.15
IGL03372:Adgrb2 APN 4 129,911,362 (GRCm39) missense probably benign 0.42
R0098:Adgrb2 UTSW 4 129,901,624 (GRCm39) missense probably damaging 0.99
R0206:Adgrb2 UTSW 4 129,886,352 (GRCm39) missense probably damaging 1.00
R0311:Adgrb2 UTSW 4 129,910,922 (GRCm39) missense probably damaging 1.00
R0380:Adgrb2 UTSW 4 129,901,624 (GRCm39) missense probably damaging 0.99
R0382:Adgrb2 UTSW 4 129,901,624 (GRCm39) missense probably damaging 0.99
R0492:Adgrb2 UTSW 4 129,901,624 (GRCm39) missense probably damaging 0.99
R0544:Adgrb2 UTSW 4 129,911,335 (GRCm39) missense probably damaging 0.98
R0965:Adgrb2 UTSW 4 129,886,209 (GRCm39) small deletion probably benign
R1458:Adgrb2 UTSW 4 129,908,384 (GRCm39) missense possibly damaging 0.48
R1601:Adgrb2 UTSW 4 129,886,630 (GRCm39) missense probably benign 0.43
R1711:Adgrb2 UTSW 4 129,886,417 (GRCm39) missense probably damaging 1.00
R1758:Adgrb2 UTSW 4 129,905,668 (GRCm39) missense probably damaging 1.00
R1783:Adgrb2 UTSW 4 129,903,098 (GRCm39) missense possibly damaging 0.61
R1827:Adgrb2 UTSW 4 129,906,350 (GRCm39) missense probably damaging 1.00
R1838:Adgrb2 UTSW 4 129,904,024 (GRCm39) missense probably benign 0.00
R1881:Adgrb2 UTSW 4 129,904,078 (GRCm39) missense probably damaging 1.00
R1888:Adgrb2 UTSW 4 129,907,419 (GRCm39) missense probably damaging 1.00
R1888:Adgrb2 UTSW 4 129,907,419 (GRCm39) missense probably damaging 1.00
R1894:Adgrb2 UTSW 4 129,907,419 (GRCm39) missense probably damaging 1.00
R2275:Adgrb2 UTSW 4 129,900,647 (GRCm39) missense probably damaging 1.00
R2926:Adgrb2 UTSW 4 129,902,137 (GRCm39) missense probably damaging 1.00
R4472:Adgrb2 UTSW 4 129,902,146 (GRCm39) missense probably benign 0.12
R4490:Adgrb2 UTSW 4 129,906,121 (GRCm39) missense possibly damaging 0.91
R4499:Adgrb2 UTSW 4 129,886,454 (GRCm39) missense probably damaging 0.99
R4758:Adgrb2 UTSW 4 129,903,143 (GRCm39) missense probably damaging 1.00
R4900:Adgrb2 UTSW 4 129,907,668 (GRCm39) missense probably damaging 1.00
R4904:Adgrb2 UTSW 4 129,906,332 (GRCm39) missense possibly damaging 0.50
R4922:Adgrb2 UTSW 4 129,901,645 (GRCm39) missense probably damaging 1.00
R5330:Adgrb2 UTSW 4 129,915,995 (GRCm39) missense possibly damaging 0.92
R5331:Adgrb2 UTSW 4 129,915,995 (GRCm39) missense possibly damaging 0.92
R5550:Adgrb2 UTSW 4 129,908,727 (GRCm39) critical splice acceptor site probably null
R5995:Adgrb2 UTSW 4 129,910,896 (GRCm39) missense probably damaging 1.00
R6047:Adgrb2 UTSW 4 129,912,498 (GRCm39) missense probably damaging 1.00
R6534:Adgrb2 UTSW 4 129,916,012 (GRCm39) missense probably damaging 0.98
R6565:Adgrb2 UTSW 4 129,913,069 (GRCm39) missense probably damaging 1.00
R6813:Adgrb2 UTSW 4 129,903,284 (GRCm39) missense probably damaging 1.00
R6963:Adgrb2 UTSW 4 129,908,155 (GRCm39) frame shift probably null
R6966:Adgrb2 UTSW 4 129,908,155 (GRCm39) frame shift probably null
R7197:Adgrb2 UTSW 4 129,903,315 (GRCm39) missense probably damaging 1.00
R7409:Adgrb2 UTSW 4 129,912,862 (GRCm39) missense probably benign 0.15
R7451:Adgrb2 UTSW 4 129,908,350 (GRCm39) missense probably damaging 1.00
R7453:Adgrb2 UTSW 4 129,908,430 (GRCm39) critical splice donor site probably null
R7461:Adgrb2 UTSW 4 129,915,006 (GRCm39) critical splice acceptor site probably benign
R7613:Adgrb2 UTSW 4 129,915,006 (GRCm39) critical splice acceptor site probably benign
R7729:Adgrb2 UTSW 4 129,885,917 (GRCm39) missense probably benign 0.09
R7818:Adgrb2 UTSW 4 129,908,762 (GRCm39) missense possibly damaging 0.70
R7818:Adgrb2 UTSW 4 129,908,353 (GRCm39) missense probably damaging 0.98
R8033:Adgrb2 UTSW 4 129,912,805 (GRCm39) missense probably benign
R8039:Adgrb2 UTSW 4 129,916,061 (GRCm39) missense probably damaging 0.99
R8097:Adgrb2 UTSW 4 129,901,690 (GRCm39) missense probably damaging 1.00
R8256:Adgrb2 UTSW 4 129,901,921 (GRCm39) missense probably damaging 0.96
R8425:Adgrb2 UTSW 4 129,898,850 (GRCm39) missense possibly damaging 0.72
R8804:Adgrb2 UTSW 4 129,899,212 (GRCm39) missense probably damaging 1.00
R9011:Adgrb2 UTSW 4 129,916,111 (GRCm39) missense probably damaging 1.00
R9018:Adgrb2 UTSW 4 129,907,659 (GRCm39) missense probably benign 0.34
R9102:Adgrb2 UTSW 4 129,912,802 (GRCm39) missense probably benign 0.04
R9113:Adgrb2 UTSW 4 129,910,877 (GRCm39) missense probably damaging 1.00
R9120:Adgrb2 UTSW 4 129,906,302 (GRCm39) missense possibly damaging 0.52
R9211:Adgrb2 UTSW 4 129,886,199 (GRCm39) missense probably benign 0.07
R9267:Adgrb2 UTSW 4 129,885,901 (GRCm39) missense possibly damaging 0.93
R9328:Adgrb2 UTSW 4 129,915,363 (GRCm39) missense probably damaging 1.00
R9470:Adgrb2 UTSW 4 129,903,074 (GRCm39) missense probably damaging 1.00
R9608:Adgrb2 UTSW 4 129,907,352 (GRCm39) missense probably damaging 0.98
RF020:Adgrb2 UTSW 4 129,903,877 (GRCm39) missense probably damaging 1.00
Z1176:Adgrb2 UTSW 4 129,911,356 (GRCm39) missense probably damaging 1.00
Z1177:Adgrb2 UTSW 4 129,912,912 (GRCm39) missense probably damaging 0.98
Z1177:Adgrb2 UTSW 4 129,905,619 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCCCACTATTAGAAAGAAGGGTGG -3'
(R):5'- ACACCTCTGTCTGGAAGTCG -3'

Sequencing Primer
(F):5'- GGCAGACAGGAGACACGACC -3'
(R):5'- TCTGTCTGGAAGTCGCCGTC -3'
Posted On 2019-10-17