Incidental Mutation 'R4472:Adgrb2'
ID 330402
Institutional Source Beutler Lab
Gene Symbol Adgrb2
Ensembl Gene ENSMUSG00000028782
Gene Name adhesion G protein-coupled receptor B2
Synonyms Bai2
MMRRC Submission 041729-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4472 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129878663-129916426 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129902146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 509 (A509V)
Ref Sequence ENSEMBL: ENSMUSP00000112869 (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: A564V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782
AA Change: A564V

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: A564V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095480
Gene: ENSMUSG00000028782
AA Change: A564V

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 noncoding transcript
Transcript: ENSMUST00000106012
Predicted Effect probably benign
Transcript: ENSMUST00000106015
AA Change: A564V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782
AA Change: A564V

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
AA Change: A564V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101638
Gene: ENSMUSG00000028782
AA Change: A564V

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: A509V

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101639
Gene: ENSMUSG00000028782
AA Change: A509V

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
AA Change: A509V

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112524
Gene: ENSMUSG00000028782
AA Change: A509V

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
AA Change: A509V

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782
AA Change: A509V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166118
Meta Mutation Damage Score 0.0942 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (66/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A T 9: 39,961,994 (GRCm39) noncoding transcript Het
Accsl T A 2: 93,694,336 (GRCm39) probably null Het
Accsl G T 2: 93,694,337 (GRCm39) probably null Het
Adcy1 G A 11: 7,080,369 (GRCm39) V371M probably damaging Het
Adgrg6 T A 10: 14,312,525 (GRCm39) Q754L probably damaging Het
Agap2 T C 10: 126,927,082 (GRCm39) I1008T probably damaging Het
Aph1c T G 9: 66,735,051 (GRCm39) H150P probably damaging Het
Atcay T C 10: 81,048,361 (GRCm39) R242G possibly damaging Het
Atg2a G A 19: 6,308,985 (GRCm39) V1724M probably damaging Het
Bbs12 T C 3: 37,373,369 (GRCm39) V54A possibly damaging Het
Card14 A G 11: 119,224,784 (GRCm39) M604V possibly damaging Het
Cd28 A T 1: 60,802,393 (GRCm39) H104L probably benign Het
Cntn5 A T 9: 10,048,776 (GRCm39) D262E probably damaging Het
Col6a3 A G 1: 90,749,736 (GRCm39) V366A probably benign Het
Csnk1d G A 11: 120,855,800 (GRCm39) probably benign Het
Dcaf11 T A 14: 55,803,063 (GRCm39) probably benign Het
Dpy19l4 G A 4: 11,304,053 (GRCm39) T119M possibly damaging Het
Eif3f T C 7: 108,540,153 (GRCm39) V316A possibly damaging Het
Fbrsl1 G A 5: 110,526,932 (GRCm39) probably benign Het
Fbxo10 C T 4: 45,043,693 (GRCm39) R710H probably damaging Het
Fbxw9 G A 8: 85,786,829 (GRCm39) D25N probably damaging Het
Gm14295 C T 2: 176,501,386 (GRCm39) T292I possibly damaging Het
Gm4884 C G 7: 40,692,687 (GRCm39) Q219E probably benign Het
Gpr150 A G 13: 76,204,273 (GRCm39) V224A probably benign Het
Hps1 A T 19: 42,750,935 (GRCm39) I355N probably damaging Het
Lmbr1l A G 15: 98,804,178 (GRCm39) S374P probably benign Het
Macf1 A T 4: 123,289,782 (GRCm39) N5458K probably damaging Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Morc3 A G 16: 93,671,645 (GRCm39) probably null Het
Mrgpra4 T C 7: 47,631,539 (GRCm39) T21A probably benign Het
Myo1a G T 10: 127,546,327 (GRCm39) V277L probably benign Het
Nkain4 C G 2: 180,596,415 (GRCm39) M1I probably null Het
Nktr T C 9: 121,577,962 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Oas2 A T 5: 120,879,220 (GRCm39) D373E possibly damaging Het
Or8g37 T A 9: 39,731,870 (GRCm39) *312R probably null Het
Oser1 T A 2: 163,257,500 (GRCm39) E11V probably null Het
Oser1 C T 2: 163,257,501 (GRCm39) E11K probably damaging Het
Pacsin3 A G 2: 91,093,288 (GRCm39) probably null Het
Pcdh20 T C 14: 88,706,434 (GRCm39) S289G probably benign Het
Phlpp1 A G 1: 106,314,176 (GRCm39) D1183G probably damaging Het
Pign T C 1: 105,575,945 (GRCm39) K232E probably benign Het
Polk A G 13: 96,630,413 (GRCm39) S383P probably damaging Het
Prom2 C A 2: 127,382,111 (GRCm39) R101L probably benign Het
Rest T C 5: 77,429,027 (GRCm39) V482A probably benign Het
Rexo1 A T 10: 80,378,492 (GRCm39) S476T probably damaging Het
Rnf31 T A 14: 55,840,777 (GRCm39) Y1015N probably damaging Het
Spata3 T C 1: 85,954,152 (GRCm39) Y305H probably benign Het
Sv2a G A 3: 96,099,810 (GRCm39) V587M probably benign Het
Synj1 A G 16: 90,766,069 (GRCm39) probably null Het
Syt17 A G 7: 118,036,040 (GRCm39) probably null Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tcaf1 A C 6: 42,656,248 (GRCm39) S243A probably benign Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trav4-4-dv10 T C 14: 53,921,187 (GRCm39) probably benign Het
Trbv15 G A 6: 41,118,493 (GRCm39) R83Q probably damaging Het
Trim27 A G 13: 21,374,056 (GRCm39) I268V probably benign Het
Tubgcp6 T A 15: 88,987,857 (GRCm39) S1031C probably damaging Het
Vmn1r89 C A 7: 12,953,799 (GRCm39) H110Q probably benign Het
Vmn2r30 T C 7: 7,320,091 (GRCm39) N545S probably damaging Het
Wls G A 3: 159,603,020 (GRCm39) M144I probably benign Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zeb2 A T 2: 44,913,023 (GRCm39) L56Q probably damaging 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
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
R7511:Adgrb2 UTSW 4 129,915,904 (GRCm39) missense 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'- CAGCTGGCGAGATCATTTACAAC -3'
(R):5'- CAGTTTATACCAAGGCATGAGGG -3'

Sequencing Primer
(F):5'- GGCGAGATCATTTACAACAAGTGTCC -3'
(R):5'- CATGAGGGAATGAATGAGCCTTAAGC -3'
Posted On 2015-07-21