Incidental Mutation 'R8417:Adgrb3'
ID 652978
Institutional Source Beutler Lab
Gene Symbol Adgrb3
Ensembl Gene ENSMUSG00000033569
Gene Name adhesion G protein-coupled receptor B3
Synonyms Bai3, A830096D10Rik
MMRRC Submission 067771-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R8417 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 25106557-25868788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25527134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 601 (T601A)
Ref Sequence ENSEMBL: ENSMUSP00000035612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041838] [ENSMUST00000135518] [ENSMUST00000146592] [ENSMUST00000151309]
AlphaFold Q80ZF8
Predicted Effect probably benign
Transcript: ENSMUST00000041838
AA Change: T601A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: T601A

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 benign
Transcript: ENSMUST00000135518
AA Change: T601A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: T601A

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 benign
Transcript: ENSMUST00000146592
AA Change: T394A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569
AA Change: T394A

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 benign
Transcript: ENSMUST00000151309
AA Change: T601A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: T601A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T C 9: 21,440,381 (GRCm39) probably null Het
Adamtsl1 G A 4: 86,074,926 (GRCm39) D98N possibly damaging Het
Ankrd33 C A 15: 101,017,330 (GRCm39) Q248K probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Casp12 G T 9: 5,352,263 (GRCm39) C155F probably benign Het
Ccn6 T A 10: 39,027,207 (GRCm39) R342* probably null Het
Clpp T C 17: 57,297,661 (GRCm39) V81A probably benign Het
Cyp3a59 A T 5: 146,027,495 (GRCm39) I89F possibly damaging Het
Fam227b C A 2: 125,962,982 (GRCm39) W178L probably damaging Het
Fcna C A 2: 25,514,863 (GRCm39) R332L probably damaging Het
Gdf3 T G 6: 122,583,566 (GRCm39) H267P probably damaging Het
Gm5592 A G 7: 40,937,975 (GRCm39) D419G probably benign Het
Gm6882 A G 7: 21,161,220 (GRCm39) V216A probably damaging Het
Gsdma3 A G 11: 98,520,603 (GRCm39) N78S probably benign Het
Hsd3b9 G A 3: 98,363,731 (GRCm39) T38I probably benign Het
Hydin T C 8: 111,296,024 (GRCm39) I3579T probably benign Het
Ighmbp2 T C 19: 3,311,590 (GRCm39) I942V probably damaging Het
Lamc1 A G 1: 153,106,515 (GRCm39) Y1266H probably damaging Het
Lgi3 T C 14: 70,772,246 (GRCm39) Y264H probably benign Het
Lmod2 G A 6: 24,603,384 (GRCm39) E120K possibly damaging Het
Mbl2 G T 19: 30,216,884 (GRCm39) C232F probably damaging Het
Morc1 T C 16: 48,281,103 (GRCm39) V214A probably damaging Het
Nlrp4b T A 7: 10,459,880 (GRCm39) C827* probably null Het
Or12k5 T A 2: 36,894,658 (GRCm39) T323S probably benign Het
Or5t7 A G 2: 86,507,149 (GRCm39) F176S probably damaging Het
Pbrm1 T A 14: 30,749,419 (GRCm39) H72Q possibly damaging Het
Plekhm2 T C 4: 141,355,136 (GRCm39) I944V probably benign Het
Prdm8 A T 5: 98,332,390 (GRCm39) D97V probably damaging Het
Preb G A 5: 31,117,461 (GRCm39) probably benign Het
Prkcd T C 14: 30,331,208 (GRCm39) K56E probably benign Het
Slit3 A T 11: 35,501,438 (GRCm39) I391F probably damaging Het
Spata19 A G 9: 27,309,266 (GRCm39) S91G probably benign Het
Stag3 A G 5: 138,306,850 (GRCm39) T1134A probably benign Het
Tgfbr2 A T 9: 115,939,197 (GRCm39) M235K probably benign Het
Tmtc2 A T 10: 105,249,097 (GRCm39) I212N probably damaging Het
Tnfrsf26 C T 7: 143,168,639 (GRCm39) R133K probably benign Het
Trim43c C A 9: 88,725,191 (GRCm39) Q238K probably benign Het
Vcan T C 13: 89,836,862 (GRCm39) D2894G probably benign Het
Zeb2 C T 2: 44,913,008 (GRCm39) S105N 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
R4713:Adgrb3 UTSW 1 25,586,613 (GRCm39) missense probably damaging 1.00
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
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'- CTCCAAGGAGAGTGAGTTGGTG -3'
(R):5'- CACATTAGTTCTTGCATGGTGG -3'

Sequencing Primer
(F):5'- GCAAGTGCTGATAACATTTATACTGC -3'
(R):5'- ACTGCTTTTAAATCCTAAGCGTTAC -3'
Posted On 2020-10-20