Mutagenetix > Incidental Mutations

Incidental Mutation 'R0098:Adgrb2'

17163

Institutional Source

Beutler Lab

Gene Symbol

Adgrb2

Ensembl Gene

ENSMUSG00000028782

Gene Name

adhesion G protein-coupled receptor B2

Synonyms

Bai2

MMRRC Submission

038384-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

129984870-130022633 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 130007831 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 416 (P416R)

Ref Sequence

ENSEMBL: ENSMUSP00000112524 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030571
AA Change: P471R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782
AA Change: P471R

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 damaging
Transcript: ENSMUST00000097868
AA Change: P471R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095480
Gene: ENSMUSG00000028782
AA Change: P471R

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 damaging
Transcript: ENSMUST00000106015
AA Change: P471R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782
AA Change: P471R

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 damaging
Transcript: ENSMUST00000106017
AA Change: P471R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101638
Gene: ENSMUSG00000028782
AA Change: P471R

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 damaging
Transcript: ENSMUST00000106018
AA Change: P416R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101639
Gene: ENSMUSG00000028782
AA Change: P416R

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 damaging
Transcript: ENSMUST00000120204
AA Change: P416R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112524
Gene: ENSMUSG00000028782
AA Change: P416R

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 damaging
Transcript: ENSMUST00000121049
AA Change: P416R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782
AA Change: P416R

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: ENSMUST00000166118

Meta Mutation Damage Score

0.3974

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 35,896,417		probably benign	Het
Acad9	T	C	3: 36,073,540	I97T	probably damaging	Het
Adam32	T	A	8: 24,914,389	Y200F	possibly damaging	Het
Adcy4	T	C	14: 55,769,827	N976S	possibly damaging	Het
Alpk2	A	G	18: 65,349,911	L342S	probably damaging	Het
Ambra1	T	A	2: 91,767,711	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,612,560	H391R	probably benign	Het
Arfgef3	A	G	10: 18,589,642	V2151A	probably damaging	Het
Atm	T	C	9: 53,518,569	D389G	probably benign	Het
Atp10b	A	T	11: 43,189,604	S236C	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,505,617	P251S	probably benign	Het
Cdhr5	C	A	7: 141,269,868	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,614,470	T157A	probably benign	Het
Cndp1	T	A	18: 84,628,824	E246D	probably damaging	Het
Cntn4	A	G	6: 106,618,424		probably benign	Het
Crebbp	A	G	16: 4,091,928	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,387,254	E452*	probably null	Het
Emb	T	C	13: 117,267,498	V262A	probably damaging	Het
Ephb1	C	T	9: 102,041,140	R390H	probably damaging	Het
Faf1	T	C	4: 109,935,499	L556S	probably damaging	Het
Fat2	T	C	11: 55,298,605	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,148,119		probably null	Het
Gid8	T	A	2: 180,714,735	I55N	possibly damaging	Het
Hexa	T	C	9: 59,558,100	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,973,163	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,312,299	G73E	probably benign	Het
Kalrn	A	T	16: 33,975,619	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,552,738	V3281I	probably benign	Het
Lrp2	T	C	2: 69,475,412	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,190,780	V160E	probably benign	Het
Muc19	C	T	15: 91,892,907		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,201	D202G	probably damaging	Het
Nxn	A	T	11: 76,278,594		probably benign	Het
Olfr1461	T	A	19: 13,165,662	I216K	probably benign	Het
Palld	C	A	8: 61,525,086	G890V	probably damaging	Het
Pcx	C	A	19: 4,601,747		probably benign	Het
Pik3c2g	T	C	6: 139,662,443	S416P	unknown	Het
Ppa2	C	T	3: 133,370,473		probably benign	Het
Ppp1r18	A	G	17: 35,867,996	I254M	probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,985,300	M244V	probably benign	Het
Rfx5	T	A	3: 94,958,368	V326E	probably damaging	Het
Rgs3	G	C	4: 62,625,906	R305P	probably damaging	Het
Rpp40	A	G	13: 35,898,987	Y173H	probably benign	Het
Ryr3	T	C	2: 112,901,031	N645D	probably damaging	Het
Sema3e	T	C	5: 14,252,432	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,413,518	V390E	probably damaging	Het
Shank1	A	G	7: 44,313,285	Y141C	unknown	Het
Smg1	A	T	7: 118,145,467	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,475,993	L996P	probably damaging	Het
Tfrc	G	T	16: 32,623,426	V490F	probably damaging	Het
Tie1	T	C	4: 118,486,587	S53G	probably benign	Het
Topaz1	T	C	9: 122,790,123	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,390,265	H222L	probably benign	Het
Ubxn8	T	C	8: 33,635,365		probably benign	Het
Unk	A	G	11: 116,050,169	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,729,131	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,059,214	L184*	probably null	Het

Other mutations in Adgrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Adgrb2	APN	4	130018805	missense	probably damaging	1.00
IGL00425:Adgrb2	APN	4	130019072	missense	probably benign	0.09
IGL00490:Adgrb2	APN	4	130011872	missense	possibly damaging	0.82
IGL00928:Adgrb2	APN	4	129992303	missense	probably benign
IGL01353:Adgrb2	APN	4	130012300	missense	probably damaging	1.00
IGL01521:Adgrb2	APN	4	129992292	missense	probably damaging	0.98
IGL01590:Adgrb2	APN	4	130013813	splice site	probably benign
IGL01813:Adgrb2	APN	4	130012566	missense	probably benign	0.00
IGL01831:Adgrb2	APN	4	130009394	missense	probably damaging	1.00
IGL01939:Adgrb2	APN	4	129992132	missense	probably damaging	0.99
IGL01960:Adgrb2	APN	4	130012384	splice site	probably benign
IGL01993:Adgrb2	APN	4	130018842	missense	possibly damaging	0.94
IGL02646:Adgrb2	APN	4	130019282	critical splice donor site	probably null
IGL02655:Adgrb2	APN	4	129992179	nonsense	probably null
IGL02695:Adgrb2	APN	4	130018832	missense	probably damaging	1.00
IGL02998:Adgrb2	APN	4	130019069	missense	probably benign	0.15
IGL03372:Adgrb2	APN	4	130017569	missense	probably benign	0.42
R0206:Adgrb2	UTSW	4	129992559	missense	probably damaging	1.00
R0311:Adgrb2	UTSW	4	130017129	missense	probably damaging	1.00
R0380:Adgrb2	UTSW	4	130007831	missense	probably damaging	0.99
R0382:Adgrb2	UTSW	4	130007831	missense	probably damaging	0.99
R0492:Adgrb2	UTSW	4	130007831	missense	probably damaging	0.99
R0544:Adgrb2	UTSW	4	130017542	missense	probably damaging	0.98
R0965:Adgrb2	UTSW	4	129992416	small deletion	probably benign
R1458:Adgrb2	UTSW	4	130014591	missense	possibly damaging	0.48
R1601:Adgrb2	UTSW	4	129992837	missense	probably benign	0.43
R1711:Adgrb2	UTSW	4	129992624	missense	probably damaging	1.00
R1758:Adgrb2	UTSW	4	130011875	missense	probably damaging	1.00
R1783:Adgrb2	UTSW	4	130009305	missense	possibly damaging	0.61
R1827:Adgrb2	UTSW	4	130012557	missense	probably damaging	1.00
R1838:Adgrb2	UTSW	4	130010231	missense	probably benign	0.00
R1881:Adgrb2	UTSW	4	130010285	missense	probably damaging	1.00
R1888:Adgrb2	UTSW	4	130013626	missense	probably damaging	1.00
R1888:Adgrb2	UTSW	4	130013626	missense	probably damaging	1.00
R1894:Adgrb2	UTSW	4	130013626	missense	probably damaging	1.00
R2275:Adgrb2	UTSW	4	130006854	missense	probably damaging	1.00
R2926:Adgrb2	UTSW	4	130008344	missense	probably damaging	1.00
R4472:Adgrb2	UTSW	4	130008353	missense	probably benign	0.12
R4490:Adgrb2	UTSW	4	130012328	missense	possibly damaging	0.91
R4499:Adgrb2	UTSW	4	129992661	missense	probably damaging	0.99
R4758:Adgrb2	UTSW	4	130009350	missense	probably damaging	1.00
R4900:Adgrb2	UTSW	4	130013875	missense	probably damaging	1.00
R4904:Adgrb2	UTSW	4	130012539	missense	possibly damaging	0.50
R4922:Adgrb2	UTSW	4	130007852	missense	probably damaging	1.00
R5330:Adgrb2	UTSW	4	130022202	missense	possibly damaging	0.92
R5331:Adgrb2	UTSW	4	130022202	missense	possibly damaging	0.92
R5550:Adgrb2	UTSW	4	130014934	critical splice acceptor site	probably null
R5995:Adgrb2	UTSW	4	130017103	missense	probably damaging	1.00
R6047:Adgrb2	UTSW	4	130018705	missense	probably damaging	1.00
R6534:Adgrb2	UTSW	4	130022219	missense	probably damaging	0.98
R6565:Adgrb2	UTSW	4	130019276	missense	probably damaging	1.00
R6813:Adgrb2	UTSW	4	130009491	missense	probably damaging	1.00
R6963:Adgrb2	UTSW	4	130014362	frame shift	probably null
R6966:Adgrb2	UTSW	4	130014362	frame shift	probably null
R7197:Adgrb2	UTSW	4	130009522	missense	probably damaging	1.00
R7409:Adgrb2	UTSW	4	130019069	missense	probably benign	0.15
R7451:Adgrb2	UTSW	4	130014557	missense	probably damaging	1.00
R7453:Adgrb2	UTSW	4	130014637	critical splice donor site	probably null
R7461:Adgrb2	UTSW	4	130021213	critical splice acceptor site	probably benign
R7511:Adgrb2	UTSW	4	130022111	missense	probably benign
R7613:Adgrb2	UTSW	4	130021213	critical splice acceptor site	probably benign
R7729:Adgrb2	UTSW	4	129992124	missense	probably benign	0.09
R7818:Adgrb2	UTSW	4	130014560	missense	probably damaging	0.98
R7818:Adgrb2	UTSW	4	130014969	missense	possibly damaging	0.70
RF020:Adgrb2	UTSW	4	130010084	missense	probably damaging	1.00

Posted On

2013-01-20