Incidental Mutation 'R1543:Adgrb3'
ID 171882
Institutional Source Beutler Lab
Gene Symbol Adgrb3
Ensembl Gene ENSMUSG00000033569
Gene Name adhesion G protein-coupled receptor B3
Synonyms Bai3, A830096D10Rik
MMRRC Submission 039582-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R1543 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 25106557-25868788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25527169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 589 (M589R)
Ref Sequence ENSEMBL: ENSMUSP00000116231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041838] [ENSMUST00000135518] [ENSMUST00000146592] [ENSMUST00000151309]
AlphaFold Q80ZF8
Predicted Effect probably benign
Transcript: ENSMUST00000041838
AA Change: M589R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: M589R

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: M589R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: M589R

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: M382R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569
AA Change: M382R

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: M589R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: M589R

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
Meta Mutation Damage Score 0.0887 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.2%
Validation Efficiency 95% (77/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik G A 6: 40,945,138 (GRCm39) V206I probably damaging Het
Abca8b A C 11: 109,865,500 (GRCm39) M319R probably damaging Het
Abcc6 T C 7: 45,665,928 (GRCm39) R231G probably benign Het
Acadm A G 3: 153,635,209 (GRCm39) Y302H probably damaging Het
Acox3 C A 5: 35,760,352 (GRCm39) R423S probably damaging Het
Adam7 T A 14: 68,759,371 (GRCm39) probably benign Het
Adgrl2 A C 3: 148,564,909 (GRCm39) F224V probably damaging Het
Adm2 G C 15: 89,208,282 (GRCm39) G74A probably damaging Het
Aen T A 7: 78,552,370 (GRCm39) V15E probably damaging Het
Ankzf1 T A 1: 75,169,160 (GRCm39) V22D possibly damaging Het
Arap2 T A 5: 62,763,498 (GRCm39) K1549* probably null Het
Arhgef11 G A 3: 87,620,324 (GRCm39) R430H probably benign Het
Asb17 T G 3: 153,550,148 (GRCm39) L60W probably damaging Het
BC035044 T C 6: 128,867,948 (GRCm39) probably benign Het
Bltp2 A G 11: 78,166,000 (GRCm39) T1422A probably benign Het
Cacna2d1 A T 5: 16,471,716 (GRCm39) M254L possibly damaging Het
Celf6 T C 9: 59,511,160 (GRCm39) probably benign Het
Cemip2 G T 19: 21,789,937 (GRCm39) A668S probably benign Het
Coro2b C T 9: 62,333,123 (GRCm39) V120I probably benign Het
Cyp20a1 C A 1: 60,415,353 (GRCm39) probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dclk3 A G 9: 111,297,122 (GRCm39) H222R probably benign Het
Deaf1 A G 7: 140,904,060 (GRCm39) S109P possibly damaging Het
Dlg5 T A 14: 24,194,516 (GRCm39) D1675V probably damaging Het
Dsg2 T A 18: 20,727,268 (GRCm39) V605E probably benign Het
Dync2i1 T C 12: 116,195,404 (GRCm39) probably benign Het
Frem2 A T 3: 53,479,876 (GRCm39) I1939N possibly damaging Het
Fsip2 A T 2: 82,811,931 (GRCm39) Y2750F possibly damaging Het
Gpr39 T A 1: 125,800,161 (GRCm39) I304N probably damaging Het
Hdac7 G A 15: 97,707,410 (GRCm39) probably benign Het
Hipk1 T C 3: 103,685,480 (GRCm39) H45R probably benign Het
Hyal2 T C 9: 107,447,386 (GRCm39) L13P probably damaging Het
Kdm1b C T 13: 47,221,997 (GRCm39) R479W probably damaging Het
Lilrb4b A G 10: 51,357,517 (GRCm39) T118A probably damaging Het
Lin7a C A 10: 107,247,930 (GRCm39) F78L possibly damaging Het
Lpin3 A G 2: 160,737,310 (GRCm39) D119G possibly damaging Het
Lrp2 G A 2: 69,331,074 (GRCm39) R1661C probably damaging Het
Lrrc45 A G 11: 120,610,844 (GRCm39) K527E probably benign Het
Map10 C T 8: 126,397,611 (GRCm39) P335S probably benign Het
Mast3 A G 8: 71,244,955 (GRCm39) S2P possibly damaging Het
Mbtps1 A G 8: 120,268,808 (GRCm39) probably benign Het
Mms22l T A 4: 24,591,084 (GRCm39) N1018K probably benign Het
Nckipsd C A 9: 108,689,571 (GRCm39) A244D possibly damaging Het
Nt5el A T 13: 105,248,877 (GRCm39) R364* probably null Het
Or12k5 C A 2: 36,895,139 (GRCm39) L162F probably damaging Het
Or1j1 A T 2: 36,703,069 (GRCm39) F12I probably damaging Het
Or4k44 A G 2: 111,368,142 (GRCm39) V164A probably benign Het
Or52j3 T A 7: 102,836,421 (GRCm39) F204L probably benign Het
Or8b12c T A 9: 37,715,243 (GRCm39) I12N possibly damaging Het
Pcx A T 19: 4,652,251 (GRCm39) D112V probably damaging Het
Phf14 G A 6: 11,987,682 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,851,200 (GRCm39) I744T probably damaging Het
Ppip5k2 A G 1: 97,668,607 (GRCm39) L560P probably damaging Het
Psmd14 A T 2: 61,615,874 (GRCm39) M248L probably benign Het
Ryr1 T G 7: 28,782,962 (GRCm39) E1884A possibly damaging Het
Scn4b T A 9: 45,061,727 (GRCm39) S204R probably damaging Het
Slc12a1 A T 2: 125,026,777 (GRCm39) M471L possibly damaging Het
Slc17a5 A G 9: 78,468,082 (GRCm39) V236A probably benign Het
Sobp T C 10: 42,897,720 (GRCm39) T622A probably damaging Het
Spata31d1a G T 13: 59,850,056 (GRCm39) R691S probably benign Het
Speg A G 1: 75,398,595 (GRCm39) E2014G probably damaging Het
Steap4 A G 5: 8,025,902 (GRCm39) probably benign Het
Tas2r144 G A 6: 42,192,537 (GRCm39) M92I probably benign Het
Tbc1d5 T C 17: 51,242,560 (GRCm39) Q179R probably benign Het
Tcf25 T C 8: 124,115,326 (GRCm39) Y188H probably benign Het
Tmem200a G A 10: 25,954,518 (GRCm39) probably benign Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Tssk5 T C 15: 76,256,409 (GRCm39) T337A probably benign Het
Ttc23 T C 7: 67,328,743 (GRCm39) V228A probably benign Het
Tulp1 A T 17: 28,581,645 (GRCm39) probably benign Het
Uqcc3 A G 19: 8,858,117 (GRCm39) F25L probably damaging Het
Vmn2r1 G A 3: 63,996,994 (GRCm39) G217S probably damaging Het
Vmn2r120 C T 17: 57,829,374 (GRCm39) E508K probably benign Het
Wdfy3 C A 5: 101,991,947 (GRCm39) V3451L probably benign Het
Wdr19 G A 5: 65,382,033 (GRCm39) V418I probably benign Het
Xirp2 C T 2: 67,338,383 (GRCm39) T208I probably benign Het
Xpnpep1 A G 19: 52,980,107 (GRCm39) V639A probably benign 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
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
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'- TCAGACGCAGGGATGTAACTTGCC -3'
(R):5'- GCAAGAAGTCTGCCAATTCTGACAAAG -3'

Sequencing Primer
(F):5'- GGGATGTAACTTGCCCTTTTAAACG -3'
(R):5'- GGTTGTTAACCCATTAACTGTAGG -3'
Posted On 2014-04-13