Mutagenetix > Incidental Mutation

Incidental Mutation 'R4490:Adgrb2'

330672

Institutional Source

Beutler Lab

Gene Symbol

Adgrb2

Ensembl Gene

ENSMUSG00000028782

Gene Name

adhesion G protein-coupled receptor B2

Synonyms

Bai2

MMRRC Submission

041746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4490 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129878663-129916426 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129906121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 881 (V881A)

Ref Sequence

ENSEMBL: ENSMUSP00000112524 (fasta)

Gene Model

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

AlphaFold

Q8CGM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030571
AA Change: V936A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030571
Gene: ENSMUSG00000028782
AA Change: V936A

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

possibly damaging
Transcript: ENSMUST00000097868
AA Change: V936A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095480
Gene: ENSMUSG00000028782
AA Change: V936A

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

possibly damaging
Transcript: ENSMUST00000106015
AA Change: V936A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101636
Gene: ENSMUSG00000028782
AA Change: V936A

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

possibly damaging
Transcript: ENSMUST00000106017
AA Change: V936A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101638
Gene: ENSMUSG00000028782
AA Change: V936A

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

possibly damaging
Transcript: ENSMUST00000106018
AA Change: V881A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101639
Gene: ENSMUSG00000028782
AA Change: V881A

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

possibly damaging
Transcript: ENSMUST00000120204
AA Change: V881A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112524
Gene: ENSMUSG00000028782
AA Change: V881A

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

noncoding transcript
Transcript: ENSMUST00000166118

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121049
AA Change: V881A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112869
Gene: ENSMUSG00000028782
AA Change: V881A

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: ENSMUST00000136416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149282

Meta Mutation Damage Score

0.1451

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,461,349 (GRCm39)	V417A	probably damaging	Het
Arl5c	G	A	11: 97,886,662 (GRCm39)	R10*	probably null	Het
Atad1	A	G	19: 32,673,197 (GRCm39)	C229R	probably benign	Het
Atp6v0a2	T	C	5: 124,784,674 (GRCm39)	V319A	probably damaging	Het
Cage1	A	G	13: 38,207,393 (GRCm39)	S257P	possibly damaging	Het
Ccndbp1	A	G	2: 120,842,876 (GRCm39)	D179G	probably damaging	Het
Cngb3	T	C	4: 19,415,684 (GRCm39)	I398T	probably benign	Het
Crmp1	A	G	5: 37,433,675 (GRCm39)	D178G	probably damaging	Het
Csmd3	C	T	15: 48,177,429 (GRCm39)	V370I	possibly damaging	Het
Dapk1	A	G	13: 60,865,942 (GRCm39)	T180A	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
F5	T	C	1: 164,044,964 (GRCm39)	V2084A	probably benign	Het
Fan1	A	T	7: 64,018,928 (GRCm39)	S476T	possibly damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Gbp2	A	G	3: 142,329,525 (GRCm39)	N24S	probably benign	Het
Gm14325	T	C	2: 177,474,776 (GRCm39)	H101R	possibly damaging	Het
Gpr55	C	T	1: 85,869,540 (GRCm39)	V14M	probably damaging	Het
Herc6	A	T	6: 57,631,480 (GRCm39)	Y724F	probably damaging	Het
Impg1	T	A	9: 80,301,341 (GRCm39)	Q195L	probably damaging	Het
Inf2	T	C	12: 112,566,638 (GRCm39)	F68L	probably damaging	Het
Kcnh8	T	C	17: 53,268,905 (GRCm39)		probably null	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Kpnb1	A	G	11: 97,062,424 (GRCm39)	V447A	probably benign	Het
Nckap5l	G	A	15: 99,324,011 (GRCm39)	P831S	probably benign	Het
Ncor2	A	G	5: 125,113,879 (GRCm39)		probably null	Het
Or4b1d	A	T	2: 89,969,261 (GRCm39)	V74D	probably damaging	Het
Pgm3	T	C	9: 86,443,893 (GRCm39)	Y337C	probably damaging	Het
Prdm1	G	T	10: 44,322,903 (GRCm39)	Y197*	probably null	Het
Prdm4	A	T	10: 85,736,763 (GRCm39)	C626S	probably damaging	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Ranbp6	A	G	19: 29,787,733 (GRCm39)	L873P	probably damaging	Het
Rin2	A	G	2: 145,664,194 (GRCm39)	T23A	possibly damaging	Het
Rxra	G	T	2: 27,631,207 (GRCm39)	R118L	probably damaging	Het
Spice1	T	C	16: 44,202,476 (GRCm39)	L750P	probably damaging	Het
Trpm1	C	T	7: 63,858,660 (GRCm39)	Q228*	probably null	Het
Tsc1	A	G	2: 28,560,937 (GRCm39)	D265G	probably damaging	Het
Usp29	T	C	7: 6,964,949 (GRCm39)	I264T	possibly damaging	Het
Vmn2r26	T	C	6: 124,027,697 (GRCm39)	L479P	possibly damaging	Het
Zfp9	A	G	6: 118,442,273 (GRCm39)	S130P	probably benign	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
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
R5550:Adgrb2	UTSW	4	129,908,727 (GRCm39)	critical splice acceptor site	probably null
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'- TGAGCTCGTGTGCACATGTG -3'
(R):5'- GCAAGATGATGGAGCGTTCTG -3'

Sequencing Primer
(F):5'- TGTGGATGAATGGGTGTAAATACATC -3'
(R):5'- CTGATTTTATAAACCTGACAGGGCAC -3'

Posted On

2015-07-21