Mutagenetix > Incidental Mutation

Incidental Mutation 'R6006:Adgrb3'

479458

Institutional Source

Beutler Lab

Gene Symbol

Adgrb3

Ensembl Gene

ENSMUSG00000033569

Gene Name

adhesion G protein-coupled receptor B3

Synonyms

Bai3, A830096D10Rik

MMRRC Submission

044183-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R6006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25106557-25868788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 25865612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 77 (D77A)

Ref Sequence

ENSEMBL: ENSMUSP00000116231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041838] [ENSMUST00000135518] [ENSMUST00000146592] [ENSMUST00000151309]

AlphaFold

Q80ZF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041838
AA Change: D77A

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: D77A

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000135518
AA Change: D77A

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: D77A

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000151309
AA Change: D77A

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: D77A

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195754

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,694,804 (GRCm39)	I296T	probably benign	Het
Abcb4	C	A	5: 8,996,026 (GRCm39)	T894K	probably damaging	Het
Acad12	C	T	5: 121,737,299 (GRCm39)	V491I	possibly damaging	Het
Actr8	T	A	14: 29,706,099 (GRCm39)		probably null	Het
Adam7	A	C	14: 68,748,845 (GRCm39)	D467E	probably damaging	Het
Adamts18	A	T	8: 114,433,606 (GRCm39)	C1043S	probably damaging	Het
Arhgap20	T	A	9: 51,761,426 (GRCm39)	D1056E	probably benign	Het
Bco1	A	G	8: 117,840,330 (GRCm39)		probably null	Het
Btn2a2	A	T	13: 23,670,533 (GRCm39)	W67R	probably damaging	Het
Camkmt	A	T	17: 85,759,666 (GRCm39)	N269Y	possibly damaging	Het
Cand1	A	G	10: 119,045,933 (GRCm39)	F991L	possibly damaging	Het
Cchcr1	A	G	17: 35,835,597 (GRCm39)	K234E	possibly damaging	Het
Cd14	T	C	18: 36,859,335 (GRCm39)	D40G	possibly damaging	Het
Cdc73	A	T	1: 143,493,177 (GRCm39)	F386I	probably damaging	Het
Cdk14	C	T	5: 5,299,211 (GRCm39)	M1I	probably null	Het
Cnpy3	A	C	17: 47,047,790 (GRCm39)	S220A	probably benign	Het
Col22a1	A	G	15: 71,845,685 (GRCm39)	V359A	probably damaging	Het
Col6a3	C	A	1: 90,696,105 (GRCm39)	C2654F	unknown	Het
Colgalt2	A	G	1: 152,348,912 (GRCm39)	T186A	probably damaging	Het
Cpsf4l	A	G	11: 113,590,753 (GRCm39)	V199A	probably benign	Het
Dhtkd1	G	A	2: 5,908,836 (GRCm39)	Q753*	probably null	Het
Ep400	A	G	5: 110,852,825 (GRCm39)	S1307P	unknown	Het
Fer1l6	T	C	15: 58,518,893 (GRCm39)	V1675A	probably damaging	Het
Glis1	T	C	4: 107,425,103 (GRCm39)	L238P	probably damaging	Het
Ift70a1	A	G	2: 75,811,832 (GRCm39)	Y84H	probably benign	Het
Iqgap3	T	A	3: 87,998,854 (GRCm39)	D318E	probably damaging	Het
Lats1	T	C	10: 7,581,359 (GRCm39)	F715L	probably damaging	Het
Mlxip	T	C	5: 123,583,721 (GRCm39)	F428S	possibly damaging	Het
Morc3	T	G	16: 93,663,381 (GRCm39)	I528R	possibly damaging	Het
Mtx1	C	T	3: 89,117,613 (GRCm39)	G60D	probably damaging	Het
Mug2	G	C	6: 122,060,459 (GRCm39)	Q1398H	probably null	Het
Mup8	T	C	4: 60,220,403 (GRCm39)	I110V	probably benign	Het
Nfkb1	A	T	3: 135,309,522 (GRCm39)	L12*	probably null	Het
Numa1	G	A	7: 101,641,926 (GRCm39)		probably null	Het
Or52e18	T	G	7: 104,609,870 (GRCm39)	E23A	probably damaging	Het
Pbk	C	T	14: 66,054,094 (GRCm39)	P213L	probably damaging	Het
Pdcd1lg2	T	A	19: 29,431,905 (GRCm39)	H224Q	possibly damaging	Het
Pkp1	C	G	1: 135,805,406 (GRCm39)		probably null	Het
Rela	A	G	19: 5,689,967 (GRCm39)	N139S	probably damaging	Het
Rgs3	G	A	4: 62,542,143 (GRCm39)	R39Q	probably damaging	Het
S1pr3	A	G	13: 51,573,731 (GRCm39)	E304G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Setmar	T	C	6: 108,053,387 (GRCm39)	S294P	possibly damaging	Het
Smc2	A	G	4: 52,459,024 (GRCm39)	N473S	probably benign	Het
Ssr1	TCTCTTTC	T	13: 38,169,972 (GRCm39)		probably null	Het
Tigd2	A	G	6: 59,187,762 (GRCm39)	I210V	possibly damaging	Het
Tmprss9	T	A	10: 80,719,555 (GRCm39)	F93L	possibly damaging	Het
U2surp	T	C	9: 95,361,360 (GRCm39)	Y633C	probably damaging	Het
Usp18	A	T	6: 121,239,781 (GRCm39)	E292V	possibly damaging	Het
Usp32	A	C	11: 84,883,277 (GRCm39)		probably null	Het
Utp18	T	C	11: 93,776,449 (GRCm39)	D12G	probably benign	Het
Vmn1r216	C	A	13: 23,283,928 (GRCm39)	H204N	probably benign	Het
Wdr97	T	C	15: 76,241,372 (GRCm39)	V626A	probably damaging	Het
Wwc1	A	T	11: 35,761,809 (GRCm39)	V619E	probably null	Het
Wwc1	T	C	11: 35,780,100 (GRCm39)	D285G	probably damaging	Het
Zfp3	A	T	11: 70,662,590 (GRCm39)	Q183L	probably benign	Het
Zfp955a	A	G	17: 33,460,660 (GRCm39)	C491R	probably damaging	Het

Other mutations in Adgrb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ATACCCGGCGTATCTGAATG -3'
(R):5'- GATGAAGGCTGTTCGTAACCTG -3'

Sequencing Primer
(F):5'- GGCGTATCTGAATGAAATTTTTATCG -3'
(R):5'- ACCTATCTCCTGGTTATGTTTGG -3'

Posted On

2017-06-26