Incidental Mutation 'R7613:Adgrb2'
ID 588715
Institutional Source Beutler Lab
Gene Symbol Adgrb2
Ensembl Gene ENSMUSG00000028782
Gene Name adhesion G protein-coupled receptor B2
Synonyms Bai2
MMRRC Submission 045681-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7613 (G1)
Quality Score 217.468
Status Validated
Chromosome 4
Chromosomal Location 129878663-129916426 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) CTATA to CTATATA at 129915006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000030571
SMART Domains Protein: ENSMUSP00000030571
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: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
SMART Domains Protein: ENSMUSP00000095480
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 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
SMART Domains Protein: ENSMUSP00000101639
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 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 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adh1 T A 3: 137,992,592 (GRCm39) L236* probably null Het
Akt2 A G 7: 27,336,595 (GRCm39) I448V probably benign Het
Anapc5 G A 5: 122,956,928 (GRCm39) T117M probably damaging Het
Cacna1d A T 14: 29,788,120 (GRCm39) D1605E probably benign Het
Celsr2 C T 3: 108,302,956 (GRCm39) G2506R probably damaging Het
Cenpe T A 3: 134,948,063 (GRCm39) F31L possibly damaging Het
Cenpj G A 14: 56,764,501 (GRCm39) R1304* probably null Het
Cfap58 A G 19: 47,970,561 (GRCm39) D593G possibly damaging Het
Crip2 T C 12: 113,107,777 (GRCm39) probably null Het
Crocc2 G T 1: 93,122,311 (GRCm39) A735S possibly damaging Het
Dnah2 A G 11: 69,439,816 (GRCm39) probably null Het
Dpp8 C T 9: 64,960,402 (GRCm39) T311M possibly damaging Het
Eps15 T C 4: 109,186,922 (GRCm39) S330P probably damaging Het
Exoc2 C T 13: 31,066,255 (GRCm39) V474I probably benign Het
Foxn2 T C 17: 88,794,311 (GRCm39) I416T possibly damaging Het
Gbp8 T C 5: 105,178,880 (GRCm39) E145G probably damaging Het
Gm3676 T A 14: 41,365,233 (GRCm39) I141L probably benign Het
Gm4131 A G 14: 62,718,538 (GRCm39) Y23H possibly damaging Het
Gucy1b1 T A 3: 81,947,054 (GRCm39) D385V possibly damaging Het
Hdac2 T C 10: 36,865,232 (GRCm39) S149P probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Igsf9b A T 9: 27,245,418 (GRCm39) R1128S probably benign Het
Invs A G 4: 48,392,668 (GRCm39) H294R probably damaging Het
Kansl3 G A 1: 36,382,876 (GRCm39) S812F probably damaging Het
Katnbl1 T C 2: 112,239,538 (GRCm39) S246P probably benign Het
Kcnt1 A T 2: 25,791,358 (GRCm39) H567L probably benign Het
Krt33a A G 11: 99,902,765 (GRCm39) I353T probably damaging Het
Lrguk A T 6: 34,078,683 (GRCm39) R639S possibly damaging Het
Lrrc37 G T 11: 103,507,116 (GRCm39) H1617Q unknown Het
Mcoln2 A T 3: 145,881,299 (GRCm39) probably null Het
Myo15a A G 11: 60,395,978 (GRCm39) T1438A Het
Myocd A G 11: 65,109,429 (GRCm39) L114P probably damaging Het
Nutm1 T C 2: 112,079,584 (GRCm39) N777S probably benign Het
Or5b21 A T 19: 12,839,141 (GRCm39) M1L probably benign Het
Pde4b A G 4: 102,112,503 (GRCm39) E29G probably damaging Het
Plekhn1 G A 4: 156,309,277 (GRCm39) P210S probably benign Het
Por G T 5: 135,758,358 (GRCm39) A112S probably damaging Het
Prkcq T C 2: 11,304,221 (GRCm39) F651S probably damaging Het
Rnf148 A C 6: 23,654,979 (GRCm39) S6A probably benign Het
Selenoi A G 5: 30,471,926 (GRCm39) I376V possibly damaging Het
Skint6 A T 4: 113,034,243 (GRCm39) probably null Het
Tdrd6 T C 17: 43,938,817 (GRCm39) T744A probably benign Het
Tet2 T A 3: 133,172,509 (GRCm39) T1918S possibly damaging Het
Ttc28 C A 5: 111,371,995 (GRCm39) L846M probably damaging Het
Ubxn2a A T 12: 4,933,832 (GRCm39) V193D possibly damaging Het
Umodl1 T A 17: 31,207,031 (GRCm39) C807* probably null Het
Upf2 T A 2: 5,978,347 (GRCm39) S404T unknown Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Usp53 A T 3: 122,743,467 (GRCm39) S490T probably benign Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging Het
Xirp2 T C 2: 67,344,842 (GRCm39) I2361T 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
R7511:Adgrb2 UTSW 4 129,915,904 (GRCm39) missense 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'- TATGATCCGACATGGTGGGAAC -3'
(R):5'- CAGTAATGGGTGTGAGCCAGAC -3'

Sequencing Primer
(F):5'- TTCACAGCTGAGCCGTGTCTG -3'
(R):5'- CCAGACAGTGGGGTAGATCC -3'
Posted On 2019-10-24