Mutagenetix > Incidental Mutation

Incidental Mutation 'R5550:Adgrb2'

435084

Institutional Source

Beutler Lab

Gene Symbol

Adgrb2

Ensembl Gene

ENSMUSG00000028782

Gene Name

adhesion G protein-coupled receptor B2

Synonyms

Bai2

MMRRC Submission

043107-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129878663-129916426 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 129908727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030571] [ENSMUST00000097868] [ENSMUST00000106015] [ENSMUST00000106017] [ENSMUST00000106018] [ENSMUST00000120204] [ENSMUST00000121049]

AlphaFold

Q8CGM1

Predicted Effect

probably null
Transcript: ENSMUST00000030571

SMART Domains

Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000106012

Predicted Effect

probably null
Transcript: ENSMUST00000106015

SMART Domains

Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000121049

SMART Domains

Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136416

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.3%

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,900,129 (GRCm39)	I1295M	probably benign	Het
Adig	A	T	2: 158,349,880 (GRCm39)		probably benign	Het
Atp5po	C	A	16: 91,727,292 (GRCm39)	V15F	probably damaging	Het
Bdh2	A	G	3: 134,994,074 (GRCm39)	K52R	probably benign	Het
Bud23	A	G	5: 135,092,744 (GRCm39)	V27A	probably benign	Het
Ces2b	A	G	8: 105,565,069 (GRCm39)	D551G	probably benign	Het
Csmd3	G	C	15: 48,048,753 (GRCm39)	S446C	probably damaging	Het
Dio3	A	T	12: 110,246,560 (GRCm39)	T299S	probably benign	Het
Dnah1	T	A	14: 31,038,665 (GRCm39)	I139F	probably benign	Het
Dpy30	A	G	17: 74,622,920 (GRCm39)	Y21H	probably benign	Het
Gbp4	C	T	5: 105,269,911 (GRCm39)	V306M	probably damaging	Het
Gcat	G	A	15: 78,926,411 (GRCm39)	V94M	probably benign	Het
H2bc27	A	G	11: 58,840,146 (GRCm39)	*127W	probably null	Het
Henmt1	A	G	3: 108,861,184 (GRCm39)	Y69C	probably damaging	Het
Kank4	A	G	4: 98,659,678 (GRCm39)	F800S	probably benign	Het
Lrrc37a	T	A	11: 103,389,003 (GRCm39)	T2141S	unknown	Het
Map3k4	G	A	17: 12,462,445 (GRCm39)	R1143*	probably null	Het
Mdc1	A	G	17: 36,156,776 (GRCm39)	D61G	possibly damaging	Het
Nfkbid	T	A	7: 30,125,426 (GRCm39)	L303Q	probably damaging	Het
Or2ag15	T	C	7: 106,340,340 (GRCm39)	N267S	probably benign	Het
Or6c75	A	G	10: 129,337,652 (GRCm39)	N300D	probably damaging	Het
P2ry1	T	C	3: 60,911,232 (GRCm39)	C124R	probably damaging	Het
Sntg1	C	T	1: 8,695,008 (GRCm39)	C153Y	probably damaging	Het
Speg	A	T	1: 75,405,744 (GRCm39)	T2983S	probably damaging	Het
Tbc1d2	G	A	4: 46,646,138 (GRCm39)	P163S	probably benign	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tnks2	T	A	19: 36,839,746 (GRCm39)	V78E	probably damaging	Het
Trip12	A	G	1: 84,738,820 (GRCm39)	C709R	probably damaging	Het
Xpo5	T	A	17: 46,545,418 (GRCm39)	V828D	possibly damaging	Het

Other mutations in Adgrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7613:Adgrb2	UTSW	4	129,915,006 (GRCm39)	critical splice acceptor site	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'- AGACTCAGGGCTTGCTGATG -3'
(R):5'- TGGGCTGATATCCCTCCCAATC -3'

Sequencing Primer
(F):5'- TTGCTGATGCCAACCCAG -3'
(R):5'- TCCCAATCCCCACCGTGG -3'

Posted On

2016-10-24