Incidental Mutation 'R0098:Adgrb2'
ID 17163
Institutional Source Beutler Lab
Gene Symbol Adgrb2
Ensembl Gene ENSMUSG00000028782
Gene Name adhesion G protein-coupled receptor B2
Synonyms Bai2
MMRRC Submission 038384-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0098 (G1)
Quality Score
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: 90.4%
  • 3x: 88.1%
  • 10x: 82.9%
  • 20x: 75.6%
Validation Efficiency 93% (78/84)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A T 17: 36,207,309 (GRCm39) probably benign Het
Acad9 T C 3: 36,127,689 (GRCm39) I97T probably damaging Het
Adam32 T A 8: 25,404,405 (GRCm39) Y200F possibly damaging Het
Adcy4 T C 14: 56,007,284 (GRCm39) N976S possibly damaging Het
Alpk2 A G 18: 65,482,982 (GRCm39) L342S probably damaging Het
Ambra1 T A 2: 91,598,056 (GRCm39) H72Q possibly damaging Het
Ankrd10 T C 8: 11,662,560 (GRCm39) H391R probably benign Het
Arfgef3 A G 10: 18,465,390 (GRCm39) V2151A probably damaging Het
Atm T C 9: 53,429,869 (GRCm39) D389G probably benign Het
Atp10b A T 11: 43,080,431 (GRCm39) S236C probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Bcl9l C T 9: 44,416,914 (GRCm39) P251S probably benign Het
Cdhr5 C A 7: 140,849,781 (GRCm39) G331W probably damaging Het
Cmklr1 T C 5: 113,752,531 (GRCm39) T157A probably benign Het
Cndp1 T A 18: 84,646,949 (GRCm39) E246D probably damaging Het
Cntn4 A G 6: 106,595,385 (GRCm39) probably benign Het
Crebbp A G 16: 3,909,792 (GRCm39) L1078P probably damaging Het
Cyp20a1 G T 1: 60,426,413 (GRCm39) E452* probably null Het
Emb T C 13: 117,404,034 (GRCm39) V262A probably damaging Het
Ephb1 C T 9: 101,918,339 (GRCm39) R390H probably damaging Het
Faf1 T C 4: 109,792,696 (GRCm39) L556S probably damaging Het
Fat2 T C 11: 55,189,431 (GRCm39) T1196A probably damaging Het
Fbf1 A T 11: 116,038,945 (GRCm39) probably null Het
Gid8 T A 2: 180,356,528 (GRCm39) I55N possibly damaging Het
Hexa T C 9: 59,465,383 (GRCm39) Y213H probably damaging Het
Igf2bp1 T C 11: 95,863,989 (GRCm39) K234E probably damaging Het
Ighv1-58 C T 12: 115,275,919 (GRCm39) G73E probably benign Het
Kalrn A T 16: 33,795,989 (GRCm39) I1262K possibly damaging Het
Lrp1 C T 10: 127,388,607 (GRCm39) V3281I probably benign Het
Lrp2 T C 2: 69,305,756 (GRCm39) D2935G probably damaging Het
Lypd6 T A 2: 50,080,792 (GRCm39) V160E probably benign Het
Muc19 C T 15: 91,777,101 (GRCm39) noncoding transcript Het
Nrxn3 A G 12: 89,226,971 (GRCm39) D202G probably damaging Het
Nxn A T 11: 76,169,420 (GRCm39) probably benign Het
Or5b107 T A 19: 13,143,026 (GRCm39) I216K probably benign Het
Palld C A 8: 61,978,120 (GRCm39) G890V probably damaging Het
Pcx C A 19: 4,651,775 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,639,441 (GRCm39) S416P unknown Het
Ppa2 C T 3: 133,076,234 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,888 (GRCm39) I254M probably benign Het
Prune2 A G 19: 17,101,267 (GRCm39) E2257G possibly damaging Het
Rd3 A G 1: 191,717,261 (GRCm39) M244V probably benign Het
Rfx5 T A 3: 94,865,679 (GRCm39) V326E probably damaging Het
Rgs3 G C 4: 62,544,143 (GRCm39) R305P probably damaging Het
Rpp40 A G 13: 36,082,970 (GRCm39) Y173H probably benign Het
Ryr3 T C 2: 112,731,376 (GRCm39) N645D probably damaging Het
Sema3e T C 5: 14,302,446 (GRCm39) V657A possibly damaging Het
Serpina3n T A 12: 104,379,777 (GRCm39) V390E probably damaging Het
Shank1 A G 7: 43,962,709 (GRCm39) Y141C unknown Het
Smg1 A T 7: 117,744,690 (GRCm39) M3154K probably benign Het
Tdrd12 A G 7: 35,175,418 (GRCm39) L996P probably damaging Het
Tfrc G T 16: 32,442,244 (GRCm39) V490F probably damaging Het
Tie1 T C 4: 118,343,784 (GRCm39) S53G probably benign Het
Topaz1 T C 9: 122,619,188 (GRCm39) Y1262H possibly damaging Het
Ttc3 A T 16: 94,191,124 (GRCm39) H222L probably benign Het
Ubxn8 T C 8: 34,125,393 (GRCm39) probably benign Het
Unk A G 11: 115,940,995 (GRCm39) Y252C probably damaging Het
Vwc2l A G 1: 70,768,290 (GRCm39) Y71C probably damaging Het
Zfp386 T A 12: 116,022,834 (GRCm39) L184* probably null 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
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
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
Posted On 2013-01-20