Incidental Mutation 'R0380:Adgrb2'
ID 65461
Institutional Source Beutler Lab
Gene Symbol Adgrb2
Ensembl Gene ENSMUSG00000028782
Gene Name adhesion G protein-coupled receptor B2
Synonyms Bai2
MMRRC Submission 038586-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0380 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129878663-129916426 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 129901624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 416 (P416R)
Ref Sequence ENSEMBL: ENSMUSP00000112524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030571] [ENSMUST00000097868] [ENSMUST00000106015] [ENSMUST00000106017] [ENSMUST00000106018] [ENSMUST00000120204] [ENSMUST00000121049]
AlphaFold Q8CGM1
Predicted Effect probably damaging
Transcript: ENSMUST00000030571
AA Change: P471R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782
AA Change: P471R

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 damaging
Transcript: ENSMUST00000097868
AA Change: P471R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095480
Gene: ENSMUSG00000028782
AA Change: P471R

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 damaging
Transcript: ENSMUST00000106015
AA Change: P471R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782
AA Change: P471R

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 damaging
Transcript: ENSMUST00000106017
AA Change: P471R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101638
Gene: ENSMUSG00000028782
AA Change: P471R

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 damaging
Transcript: ENSMUST00000106018
AA Change: P416R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101639
Gene: ENSMUSG00000028782
AA Change: P416R

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 damaging
Transcript: ENSMUST00000120204
AA Change: P416R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112524
Gene: ENSMUSG00000028782
AA Change: P416R

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 damaging
Transcript: ENSMUST00000121049
AA Change: P416R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782
AA Change: P416R

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: ENSMUST00000166118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149282
Meta Mutation Damage Score 0.3974 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,538,500 (GRCm39) probably null Het
Abca14 A T 7: 119,877,703 (GRCm39) I1073L probably benign Het
Adamts17 C T 7: 66,799,792 (GRCm39) P1116L probably benign Het
Ano4 A G 10: 88,814,675 (GRCm39) I671T possibly damaging Het
Aoc1l1 A G 6: 48,952,773 (GRCm39) I233V probably benign Het
Ap1g1 A G 8: 110,529,796 (GRCm39) probably benign Het
Arhgap19 A G 19: 41,761,576 (GRCm39) probably benign Het
Arhgap32 C T 9: 32,157,773 (GRCm39) R129W probably damaging Het
Atp10b G T 11: 43,116,424 (GRCm39) A924S probably damaging Het
Ccdc180 T A 4: 45,930,197 (GRCm39) probably null Het
Cckbr A G 7: 105,084,198 (GRCm39) T311A probably benign Het
Cr2 C T 1: 194,839,715 (GRCm39) G947R probably damaging Het
Cyp2g1 T A 7: 26,513,720 (GRCm39) probably benign Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
Dscam A G 16: 96,857,810 (GRCm39) Y67H probably damaging Het
Dsg2 T A 18: 20,715,996 (GRCm39) Y282* probably null Het
Epg5 T C 18: 78,004,056 (GRCm39) L688P probably damaging Het
Esr2 T G 12: 76,170,065 (GRCm39) E458A possibly damaging Het
Fat1 T C 8: 45,463,160 (GRCm39) S1326P probably damaging Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Gpr12 T A 5: 146,520,146 (GRCm39) T259S probably damaging Het
Grm5 T A 7: 87,723,584 (GRCm39) C625S possibly damaging Het
H2-Q1 C T 17: 35,542,054 (GRCm39) H209Y probably damaging Het
Hcfc2 C A 10: 82,564,272 (GRCm39) probably benign Het
Itgal C A 7: 126,909,923 (GRCm39) Y495* probably null Het
Kbtbd3 T A 9: 4,330,545 (GRCm39) Y306* probably null Het
Kcns2 T C 15: 34,839,318 (GRCm39) F227S possibly damaging Het
Kif1a T A 1: 92,983,753 (GRCm39) probably null Het
Maml2 C T 9: 13,532,396 (GRCm39) R537* probably null Het
Muc4 G A 16: 32,574,333 (GRCm39) A928T probably benign Het
Nav3 A G 10: 109,594,740 (GRCm39) probably benign Het
Neb A T 2: 52,122,214 (GRCm39) M605K probably damaging Het
Or2c1 A T 16: 3,656,849 (GRCm39) D4V probably benign Het
Pcdhb3 T G 18: 37,435,210 (GRCm39) I392S possibly damaging Het
Prune2 A G 19: 17,101,371 (GRCm39) T2292A probably damaging Het
Rbbp8nl A T 2: 179,923,512 (GRCm39) M108K probably damaging Het
Rbm25 A G 12: 83,707,130 (GRCm39) T259A probably benign Het
Recql C A 6: 142,315,156 (GRCm39) R243L probably damaging Het
Rsf1 TGGCG TGGCGACGGCGGCG 7: 97,229,112 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,878,551 (GRCm39) probably null Het
Slc16a14 T A 1: 84,907,251 (GRCm39) I8F possibly damaging Het
Spef1 G T 2: 131,014,332 (GRCm39) probably benign Het
Tas2r103 A G 6: 133,013,166 (GRCm39) L300P probably damaging Het
Tas2r117 A T 6: 132,780,551 (GRCm39) R230* probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thnsl2 A T 6: 71,118,314 (GRCm39) L38Q probably damaging Het
Tmem171 G T 13: 98,828,535 (GRCm39) T205K possibly damaging Het
Tmem232 A T 17: 65,563,443 (GRCm39) L650Q probably benign Het
Tpr T A 1: 150,288,698 (GRCm39) D518E probably benign Het
Tsen54 T C 11: 115,713,423 (GRCm39) V442A probably damaging Het
Tshz3 A T 7: 36,470,725 (GRCm39) I905F probably damaging Het
Vmn1r66 C T 7: 10,008,670 (GRCm39) C121Y probably benign Het
Wdfy3 T C 5: 102,096,832 (GRCm39) Q322R probably damaging Het
Wdr64 T C 1: 175,597,208 (GRCm39) 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
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
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
Posted On 2013-08-08