Incidental Mutation 'R4713:Adgrb3'
ID 353341
Institutional Source Beutler Lab
Gene Symbol Adgrb3
Ensembl Gene ENSMUSG00000033569
Gene Name adhesion G protein-coupled receptor B3
Synonyms Bai3, A830096D10Rik
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 25106557-25868788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25586613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 360 (T360K)
Ref Sequence ENSEMBL: ENSMUSP00000116231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041838] [ENSMUST00000135518] [ENSMUST00000146592] [ENSMUST00000151309]
AlphaFold Q80ZF8
Predicted Effect probably damaging
Transcript: ENSMUST00000041838
AA Change: T360K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: T360K

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 212 223 N/A INTRINSIC
TSP1 294 343 2.1e-12 SMART
TSP1 348 398 7.97e-13 SMART
TSP1 403 453 6.28e-11 SMART
TSP1 458 508 1.48e-7 SMART
HormR 510 576 4.15e-20 SMART
Pfam:DUF3497 586 810 1.7e-52 PFAM
GPS 815 868 1.24e-21 SMART
Pfam:7tm_2 874 1143 2.1e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135518
AA Change: T360K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: T360K

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 212 223 N/A INTRINSIC
TSP1 294 343 2.1e-12 SMART
TSP1 348 398 7.97e-13 SMART
TSP1 403 453 6.28e-11 SMART
TSP1 458 508 1.48e-7 SMART
HormR 510 576 4.15e-20 SMART
Pfam:DUF3497 586 810 1.7e-52 PFAM
GPS 815 868 1.24e-21 SMART
Pfam:7tm_2 874 1143 2.1e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146592
AA Change: T153K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569
AA Change: T153K

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
TSP1 87 136 2.1e-12 SMART
TSP1 141 191 7.97e-13 SMART
TSP1 196 246 6.28e-11 SMART
TSP1 251 301 1.48e-7 SMART
HormR 303 369 4.15e-20 SMART
Pfam:DUF3497 379 603 2.5e-52 PFAM
GPS 608 661 1.24e-21 SMART
Pfam:7tm_2 667 903 5.4e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151309
AA Change: T360K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: T360K

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 212 223 N/A INTRINSIC
TSP1 294 343 2.1e-12 SMART
TSP1 348 398 7.97e-13 SMART
TSP1 403 453 6.28e-11 SMART
TSP1 458 508 1.48e-7 SMART
HormR 510 576 4.15e-20 SMART
Pfam:GAIN 589 794 1.1e-44 PFAM
GPS 815 868 1.24e-21 SMART
Pfam:7tm_2 875 1143 2.7e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189254
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in Purkinje cells exhibit impaired motor learning with alterned climbing fiber electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging Het
Other mutations in Adgrb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Adgrb3 APN 1 25,267,581 (GRCm39) missense probably benign 0.09
IGL00507:Adgrb3 APN 1 25,113,796 (GRCm39) missense possibly damaging 0.93
IGL00828:Adgrb3 APN 1 25,527,200 (GRCm39) missense possibly damaging 0.73
IGL01285:Adgrb3 APN 1 25,132,868 (GRCm39) missense probably benign 0.32
IGL01309:Adgrb3 APN 1 25,151,352 (GRCm39) missense possibly damaging 0.69
IGL01540:Adgrb3 APN 1 25,151,252 (GRCm39) splice site probably null
IGL01608:Adgrb3 APN 1 25,592,855 (GRCm39) missense probably damaging 1.00
IGL01638:Adgrb3 APN 1 25,598,832 (GRCm39) splice site probably benign
IGL01657:Adgrb3 APN 1 25,865,574 (GRCm39) missense probably benign 0.03
IGL01666:Adgrb3 APN 1 25,499,832 (GRCm39) missense probably damaging 0.96
IGL01712:Adgrb3 APN 1 25,865,360 (GRCm39) missense probably benign
IGL01767:Adgrb3 APN 1 25,598,895 (GRCm39) missense probably benign 0.00
IGL01987:Adgrb3 APN 1 25,140,512 (GRCm39) critical splice donor site probably null
IGL02201:Adgrb3 APN 1 25,459,631 (GRCm39) splice site probably benign
IGL02584:Adgrb3 APN 1 25,544,065 (GRCm39) missense probably damaging 0.98
IGL02685:Adgrb3 APN 1 25,123,323 (GRCm39) critical splice donor site probably null
IGL02886:Adgrb3 APN 1 25,543,991 (GRCm39) splice site probably null
IGL02929:Adgrb3 APN 1 25,592,905 (GRCm39) missense probably benign 0.00
IGL03153:Adgrb3 APN 1 25,570,978 (GRCm39) nonsense probably null
IGL03165:Adgrb3 APN 1 25,133,475 (GRCm39) missense probably benign 0.05
IGL03227:Adgrb3 APN 1 25,586,556 (GRCm39) missense probably damaging 1.00
IGL03392:Adgrb3 APN 1 25,543,529 (GRCm39) missense probably damaging 0.99
schwach UTSW 1 25,150,772 (GRCm39) critical splice donor site probably null
R0007:Adgrb3 UTSW 1 25,150,772 (GRCm39) critical splice donor site probably null
R0048:Adgrb3 UTSW 1 25,140,563 (GRCm39) missense probably benign 0.02
R0048:Adgrb3 UTSW 1 25,140,563 (GRCm39) missense probably benign 0.02
R0322:Adgrb3 UTSW 1 25,260,829 (GRCm39) splice site probably benign
R0442:Adgrb3 UTSW 1 25,435,551 (GRCm39) missense probably damaging 0.96
R0563:Adgrb3 UTSW 1 25,586,635 (GRCm39) missense probably damaging 0.99
R1168:Adgrb3 UTSW 1 25,865,280 (GRCm39) missense probably benign
R1252:Adgrb3 UTSW 1 25,167,909 (GRCm39) missense probably damaging 1.00
R1264:Adgrb3 UTSW 1 25,598,931 (GRCm39) missense probably damaging 0.97
R1543:Adgrb3 UTSW 1 25,527,169 (GRCm39) missense probably benign 0.01
R1577:Adgrb3 UTSW 1 25,133,264 (GRCm39) missense possibly damaging 0.51
R1581:Adgrb3 UTSW 1 25,133,153 (GRCm39) missense possibly damaging 0.94
R1583:Adgrb3 UTSW 1 25,265,912 (GRCm39) splice site probably null
R1653:Adgrb3 UTSW 1 25,140,584 (GRCm39) missense probably benign 0.09
R1725:Adgrb3 UTSW 1 25,865,381 (GRCm39) missense probably damaging 1.00
R1792:Adgrb3 UTSW 1 25,267,552 (GRCm39) missense probably damaging 1.00
R1827:Adgrb3 UTSW 1 25,571,658 (GRCm39) missense probably damaging 0.99
R1838:Adgrb3 UTSW 1 25,123,351 (GRCm39) missense probably damaging 1.00
R1869:Adgrb3 UTSW 1 25,865,519 (GRCm39) missense possibly damaging 0.83
R1971:Adgrb3 UTSW 1 25,586,525 (GRCm39) missense probably benign 0.02
R2005:Adgrb3 UTSW 1 25,150,799 (GRCm39) missense probably benign 0.25
R2134:Adgrb3 UTSW 1 25,133,038 (GRCm39) missense probably damaging 0.99
R2142:Adgrb3 UTSW 1 25,107,290 (GRCm39) missense probably damaging 1.00
R2268:Adgrb3 UTSW 1 25,150,898 (GRCm39) missense possibly damaging 0.79
R3740:Adgrb3 UTSW 1 25,865,535 (GRCm39) missense probably benign 0.00
R3877:Adgrb3 UTSW 1 25,150,906 (GRCm39) missense probably damaging 1.00
R4120:Adgrb3 UTSW 1 25,133,388 (GRCm39) nonsense probably null
R4344:Adgrb3 UTSW 1 25,865,829 (GRCm39) missense possibly damaging 0.61
R4363:Adgrb3 UTSW 1 25,151,303 (GRCm39) missense probably damaging 1.00
R4438:Adgrb3 UTSW 1 25,870,108 (GRCm39) unclassified probably benign
R4465:Adgrb3 UTSW 1 25,133,447 (GRCm39) missense probably damaging 1.00
R4480:Adgrb3 UTSW 1 25,150,829 (GRCm39) missense probably damaging 1.00
R4554:Adgrb3 UTSW 1 25,123,360 (GRCm39) missense probably damaging 1.00
R4557:Adgrb3 UTSW 1 25,123,360 (GRCm39) missense probably damaging 1.00
R4622:Adgrb3 UTSW 1 25,865,569 (GRCm39) missense probably damaging 0.99
R4772:Adgrb3 UTSW 1 25,570,956 (GRCm39) missense probably damaging 1.00
R4890:Adgrb3 UTSW 1 25,260,908 (GRCm39) missense probably damaging 1.00
R5045:Adgrb3 UTSW 1 25,113,860 (GRCm39) missense probably damaging 1.00
R5061:Adgrb3 UTSW 1 25,107,209 (GRCm39) utr 3 prime probably benign
R5097:Adgrb3 UTSW 1 25,865,165 (GRCm39) missense probably damaging 1.00
R5227:Adgrb3 UTSW 1 25,133,033 (GRCm39) missense possibly damaging 0.55
R5241:Adgrb3 UTSW 1 25,150,871 (GRCm39) missense possibly damaging 0.85
R5328:Adgrb3 UTSW 1 25,133,356 (GRCm39) missense possibly damaging 0.90
R5372:Adgrb3 UTSW 1 25,167,940 (GRCm39) missense probably benign 0.01
R5703:Adgrb3 UTSW 1 25,459,640 (GRCm39) missense probably damaging 1.00
R5747:Adgrb3 UTSW 1 25,865,643 (GRCm39) missense probably damaging 1.00
R5998:Adgrb3 UTSW 1 25,470,582 (GRCm39) splice site probably null
R6006:Adgrb3 UTSW 1 25,865,612 (GRCm39) missense possibly damaging 0.85
R6077:Adgrb3 UTSW 1 25,133,081 (GRCm39) nonsense probably null
R6183:Adgrb3 UTSW 1 25,133,451 (GRCm39) missense probably damaging 0.98
R6190:Adgrb3 UTSW 1 25,459,728 (GRCm39) missense probably benign 0.01
R6249:Adgrb3 UTSW 1 25,471,639 (GRCm39) missense probably damaging 1.00
R6310:Adgrb3 UTSW 1 25,150,799 (GRCm39) missense probably benign 0.13
R6450:Adgrb3 UTSW 1 25,459,683 (GRCm39) missense probably benign
R6678:Adgrb3 UTSW 1 25,499,891 (GRCm39) missense possibly damaging 0.84
R6679:Adgrb3 UTSW 1 25,170,377 (GRCm39) missense probably benign 0.01
R6685:Adgrb3 UTSW 1 25,150,817 (GRCm39) nonsense probably null
R6730:Adgrb3 UTSW 1 25,133,375 (GRCm39) missense probably damaging 1.00
R6805:Adgrb3 UTSW 1 25,865,253 (GRCm39) missense possibly damaging 0.83
R6847:Adgrb3 UTSW 1 25,133,003 (GRCm39) missense probably benign 0.03
R6929:Adgrb3 UTSW 1 25,150,852 (GRCm39) nonsense probably null
R6953:Adgrb3 UTSW 1 25,865,592 (GRCm39) missense probably damaging 1.00
R7062:Adgrb3 UTSW 1 25,865,166 (GRCm39) missense possibly damaging 0.90
R7244:Adgrb3 UTSW 1 25,170,350 (GRCm39) missense probably damaging 1.00
R7292:Adgrb3 UTSW 1 25,570,957 (GRCm39) missense probably damaging 1.00
R7325:Adgrb3 UTSW 1 25,571,711 (GRCm39) missense probably benign 0.01
R7378:Adgrb3 UTSW 1 25,571,000 (GRCm39) nonsense probably null
R7489:Adgrb3 UTSW 1 25,586,586 (GRCm39) missense probably damaging 1.00
R7615:Adgrb3 UTSW 1 25,137,978 (GRCm39) missense probably damaging 1.00
R7623:Adgrb3 UTSW 1 25,586,629 (GRCm39) missense probably damaging 1.00
R7787:Adgrb3 UTSW 1 25,471,625 (GRCm39) missense probably damaging 1.00
R7837:Adgrb3 UTSW 1 25,167,915 (GRCm39) missense probably damaging 1.00
R8064:Adgrb3 UTSW 1 25,459,637 (GRCm39) critical splice donor site probably null
R8152:Adgrb3 UTSW 1 25,260,838 (GRCm39) splice site probably null
R8161:Adgrb3 UTSW 1 25,133,003 (GRCm39) missense probably benign 0.03
R8225:Adgrb3 UTSW 1 25,865,597 (GRCm39) missense probably benign 0.00
R8417:Adgrb3 UTSW 1 25,527,134 (GRCm39) missense probably benign 0.21
R8694:Adgrb3 UTSW 1 25,865,472 (GRCm39) missense probably damaging 0.98
R8742:Adgrb3 UTSW 1 25,265,835 (GRCm39) missense probably benign 0.01
R8886:Adgrb3 UTSW 1 25,150,928 (GRCm39) missense probably damaging 1.00
R8941:Adgrb3 UTSW 1 25,133,235 (GRCm39) missense probably damaging 1.00
R8958:Adgrb3 UTSW 1 25,865,190 (GRCm39) missense possibly damaging 0.68
R8979:Adgrb3 UTSW 1 25,527,115 (GRCm39) missense probably benign 0.03
R9064:Adgrb3 UTSW 1 25,570,965 (GRCm39) missense possibly damaging 0.86
R9252:Adgrb3 UTSW 1 25,865,496 (GRCm39) missense probably benign 0.03
R9401:Adgrb3 UTSW 1 25,592,783 (GRCm39) missense probably damaging 1.00
R9739:Adgrb3 UTSW 1 25,592,849 (GRCm39) missense probably damaging 1.00
Z1088:Adgrb3 UTSW 1 25,170,352 (GRCm39) missense probably damaging 1.00
Z1176:Adgrb3 UTSW 1 25,132,995 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- GGGAACACTTTTCAGCAAGGC -3'
(R):5'- CCTTATTCTTCATAGGTGACCATGC -3'

Sequencing Primer
(F):5'- TTCAGCAAGGCTCAATAAGAGTTG -3'
(R):5'- TTTCCACTTAAAAAGGTGAAAGGG -3'
Posted On 2015-10-21