Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Adgrb3'

16228

Institutional Source

Beutler Lab

Gene Symbol

Adgrb3

Ensembl Gene

ENSMUSG00000033569

Gene Name

adhesion G protein-coupled receptor B3

Synonyms

Bai3, A830096D10Rik

MMRRC Submission

038342-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

25067476-25829707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25101482 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 299 (I299T)

Ref Sequence

ENSEMBL: ENSMUSP00000115442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041838] [ENSMUST00000126626] [ENSMUST00000135518] [ENSMUST00000146592] [ENSMUST00000151309]

AlphaFold

Q80ZF8

Predicted Effect

probably benign
Transcript: ENSMUST00000041838
AA Change: I1169T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: I1169T

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

noncoding transcript
Transcript: ENSMUST00000126096

Predicted Effect

probably benign
Transcript: ENSMUST00000126626
AA Change: I299T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115442
Gene: ENSMUSG00000033569
AA Change: I299T

Domain	Start	End	E-Value	Type
Pfam:7tm_2	4	273	7.3e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135518
AA Change: I1169T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: I1169T

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
AA Change: I929T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569
AA Change: I929T

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

probably benign
Transcript: ENSMUST00000151309
AA Change: I1169T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: I1169T

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: ENSMUST00000153568

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	A	G	17: 65,984,803	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,483,049	S52P	probably benign	Het
Aox1	A	G	1: 58,073,212	E715G	probably damaging	Het
Arid1b	T	C	17: 5,314,034		probably null	Het
Brca1	A	G	11: 101,524,977	V777A	possibly damaging	Het
Btaf1	G	T	19: 37,003,524	A1582S	probably benign	Het
Ccdc184	G	A	15: 98,168,460	A49T	probably damaging	Het
Cd109	A	C	9: 78,680,021	Y657S	possibly damaging	Het
Cfap53	A	T	18: 74,299,173	Y44F	probably benign	Het
Cped1	T	A	6: 22,119,602	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262	Y562*	probably null	Het
Eno4	T	C	19: 58,964,538	M328T	possibly damaging	Het
Etv3l	T	C	3: 87,554,968		noncoding transcript	Het
Eya2	T	A	2: 165,716,011	Y176N	probably damaging	Het
Fat2	G	T	11: 55,310,039	H736Q	probably benign	Het
Fgfr2	A	T	7: 130,180,488		probably benign	Het
Gif	G	A	19: 11,749,756	V110M	possibly damaging	Het
Grhl1	A	T	12: 24,612,151		probably benign	Het
H60b	T	A	10: 22,287,231	M235K	probably benign	Het
Hal	T	A	10: 93,498,991	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,428,237	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,501,417	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,115,949	T516S	probably benign	Het
Itpr2	T	C	6: 146,232,291		probably null	Het
Jmjd4	C	A	11: 59,453,952	H244N	probably benign	Het
Klkb1	G	A	8: 45,289,196		probably benign	Het
Loxhd1	A	T	18: 77,408,778	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,465,627	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,093,647		probably benign	Het
Mblac1	A	G	5: 138,194,465	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,362,814	V380I	possibly damaging	Het
Mroh9	G	A	1: 163,062,487	T227M	probably damaging	Het
Mtor	C	T	4: 148,538,881	Q2063*	probably null	Het
Ncstn	A	G	1: 172,069,961		probably benign	Het
Nek9	T	C	12: 85,301,899	T954A	probably benign	Het
Nlrc5	A	T	8: 94,474,656	Y126F	possibly damaging	Het
Nr1d1	A	G	11: 98,770,478	S321P	probably benign	Het
Olfr273	C	A	4: 52,856,196	A106S	probably damaging	Het
Pkn2	T	C	3: 142,810,827	I513V	probably damaging	Het
Pls1	T	C	9: 95,787,063	E35G	probably damaging	Het
Polr3a	A	G	14: 24,469,255		probably benign	Het
Ptgfr	A	G	3: 151,835,091	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,627,369		probably benign	Het
Raph1	T	C	1: 60,500,605	K423E	probably benign	Het
Rbm27	A	G	18: 42,298,464	D112G	probably benign	Het
Rbm46	A	T	3: 82,864,230	S359R	probably damaging	Het
Rhobtb3	A	T	13: 75,902,245	*100R	probably null	Het
Ryr2	T	C	13: 11,595,784	E4052G	probably damaging	Het
Sart3	G	T	5: 113,755,397	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,268,750	F629S	probably damaging	Het
Siglec1	T	C	2: 131,073,397	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 57,915,522		probably benign	Het
Slc38a10	G	T	11: 120,110,312	P561T	probably benign	Het
Slc45a4	A	G	15: 73,605,436		probably benign	Het
Snx25	A	T	8: 46,105,109		probably benign	Het
Son	T	A	16: 91,658,977	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,666,272		probably benign	Het
Tarbp1	A	G	8: 126,447,530	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,694,354		probably benign	Het
Tigd2	C	A	6: 59,211,384	T412K	possibly damaging	Het
Umodl1	A	T	17: 30,968,477	N172Y	probably damaging	Het
Urah	C	T	7: 140,836,752	T46I	probably damaging	Het
Usp8	C	T	2: 126,737,889	P353L	probably damaging	Het
Vamp2	A	G	11: 69,089,759	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,676,140	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,535,419		probably benign	Het
Zbtb38	C	T	9: 96,687,676	V452M	probably damaging	Het
Zbtb41	A	G	1: 139,441,834	K650E	probably damaging	Het
Zfp532	A	G	18: 65,644,333	Y887C	probably damaging	Het

Other mutations in Adgrb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Adgrb3	APN	1	25228500	missense	probably benign	0.09
IGL00507:Adgrb3	APN	1	25074715	missense	possibly damaging	0.93
IGL00828:Adgrb3	APN	1	25488119	missense	possibly damaging	0.73
IGL01285:Adgrb3	APN	1	25093787	missense	probably benign	0.32
IGL01309:Adgrb3	APN	1	25112271	missense	possibly damaging	0.69
IGL01540:Adgrb3	APN	1	25112171	splice site	probably null
IGL01608:Adgrb3	APN	1	25553774	missense	probably damaging	1.00
IGL01638:Adgrb3	APN	1	25559751	splice site	probably benign
IGL01657:Adgrb3	APN	1	25826493	missense	probably benign	0.03
IGL01666:Adgrb3	APN	1	25460751	missense	probably damaging	0.96
IGL01712:Adgrb3	APN	1	25826279	missense	probably benign
IGL01767:Adgrb3	APN	1	25559814	missense	probably benign	0.00
IGL01987:Adgrb3	APN	1	25101431	critical splice donor site	probably null
IGL02201:Adgrb3	APN	1	25420550	splice site	probably benign
IGL02584:Adgrb3	APN	1	25504984	missense	probably damaging	0.98
IGL02685:Adgrb3	APN	1	25084242	critical splice donor site	probably null
IGL02886:Adgrb3	APN	1	25504910	splice site	probably null
IGL02929:Adgrb3	APN	1	25553824	missense	probably benign	0.00
IGL03153:Adgrb3	APN	1	25531897	nonsense	probably null
IGL03165:Adgrb3	APN	1	25094394	missense	probably benign	0.05
IGL03227:Adgrb3	APN	1	25547475	missense	probably damaging	1.00
IGL03392:Adgrb3	APN	1	25504448	missense	probably damaging	0.99
schwach	UTSW	1	25111691	critical splice donor site	probably null
R0007:Adgrb3	UTSW	1	25111691	critical splice donor site	probably null
R0048:Adgrb3	UTSW	1	25101482	missense	probably benign	0.02
R0322:Adgrb3	UTSW	1	25221748	splice site	probably benign
R0442:Adgrb3	UTSW	1	25396470	missense	probably damaging	0.96
R0563:Adgrb3	UTSW	1	25547554	missense	probably damaging	0.99
R1168:Adgrb3	UTSW	1	25826199	missense	probably benign
R1252:Adgrb3	UTSW	1	25128828	missense	probably damaging	1.00
R1264:Adgrb3	UTSW	1	25559850	missense	probably damaging	0.97
R1543:Adgrb3	UTSW	1	25488088	missense	probably benign	0.01
R1577:Adgrb3	UTSW	1	25094183	missense	possibly damaging	0.51
R1581:Adgrb3	UTSW	1	25094072	missense	possibly damaging	0.94
R1583:Adgrb3	UTSW	1	25226831	splice site	probably null
R1653:Adgrb3	UTSW	1	25101503	missense	probably benign	0.09
R1725:Adgrb3	UTSW	1	25826300	missense	probably damaging	1.00
R1792:Adgrb3	UTSW	1	25228471	missense	probably damaging	1.00
R1827:Adgrb3	UTSW	1	25532577	missense	probably damaging	0.99
R1838:Adgrb3	UTSW	1	25084270	missense	probably damaging	1.00
R1869:Adgrb3	UTSW	1	25826438	missense	possibly damaging	0.83
R1971:Adgrb3	UTSW	1	25547444	missense	probably benign	0.02
R2005:Adgrb3	UTSW	1	25111718	missense	probably benign	0.25
R2134:Adgrb3	UTSW	1	25093957	missense	probably damaging	0.99
R2142:Adgrb3	UTSW	1	25068209	missense	probably damaging	1.00
R2268:Adgrb3	UTSW	1	25111817	missense	possibly damaging	0.79
R3740:Adgrb3	UTSW	1	25826454	missense	probably benign	0.00
R3877:Adgrb3	UTSW	1	25111825	missense	probably damaging	1.00
R4120:Adgrb3	UTSW	1	25094307	nonsense	probably null
R4344:Adgrb3	UTSW	1	25826748	missense	possibly damaging	0.61
R4363:Adgrb3	UTSW	1	25112222	missense	probably damaging	1.00
R4438:Adgrb3	UTSW	1	25831027	unclassified	probably benign
R4465:Adgrb3	UTSW	1	25094366	missense	probably damaging	1.00
R4480:Adgrb3	UTSW	1	25111748	missense	probably damaging	1.00
R4554:Adgrb3	UTSW	1	25084279	missense	probably damaging	1.00
R4557:Adgrb3	UTSW	1	25084279	missense	probably damaging	1.00
R4622:Adgrb3	UTSW	1	25826488	missense	probably damaging	0.99
R4713:Adgrb3	UTSW	1	25547532	missense	probably damaging	1.00
R4772:Adgrb3	UTSW	1	25531875	missense	probably damaging	1.00
R4890:Adgrb3	UTSW	1	25221827	missense	probably damaging	1.00
R5045:Adgrb3	UTSW	1	25074779	missense	probably damaging	1.00
R5061:Adgrb3	UTSW	1	25068128	utr 3 prime	probably benign
R5097:Adgrb3	UTSW	1	25826084	missense	probably damaging	1.00
R5227:Adgrb3	UTSW	1	25093952	missense	possibly damaging	0.55
R5241:Adgrb3	UTSW	1	25111790	missense	possibly damaging	0.85
R5328:Adgrb3	UTSW	1	25094275	missense	possibly damaging	0.90
R5372:Adgrb3	UTSW	1	25128859	missense	probably benign	0.01
R5703:Adgrb3	UTSW	1	25420559	missense	probably damaging	1.00
R5747:Adgrb3	UTSW	1	25826562	missense	probably damaging	1.00
R5998:Adgrb3	UTSW	1	25431501	splice site	probably null
R6006:Adgrb3	UTSW	1	25826531	missense	possibly damaging	0.85
R6077:Adgrb3	UTSW	1	25094000	nonsense	probably null
R6183:Adgrb3	UTSW	1	25094370	missense	probably damaging	0.98
R6190:Adgrb3	UTSW	1	25420647	missense	probably benign	0.01
R6249:Adgrb3	UTSW	1	25432558	missense	probably damaging	1.00
R6310:Adgrb3	UTSW	1	25111718	missense	probably benign	0.13
R6450:Adgrb3	UTSW	1	25420602	missense	probably benign
R6678:Adgrb3	UTSW	1	25460810	missense	possibly damaging	0.84
R6679:Adgrb3	UTSW	1	25131296	missense	probably benign	0.01
R6685:Adgrb3	UTSW	1	25111736	nonsense	probably null
R6730:Adgrb3	UTSW	1	25094294	missense	probably damaging	1.00
R6805:Adgrb3	UTSW	1	25826172	missense	possibly damaging	0.83
R6847:Adgrb3	UTSW	1	25093922	missense	probably benign	0.03
R6929:Adgrb3	UTSW	1	25111771	nonsense	probably null
R6953:Adgrb3	UTSW	1	25826511	missense	probably damaging	1.00
R7062:Adgrb3	UTSW	1	25826085	missense	possibly damaging	0.90
R7244:Adgrb3	UTSW	1	25131269	missense	probably damaging	1.00
R7292:Adgrb3	UTSW	1	25531876	missense	probably damaging	1.00
R7325:Adgrb3	UTSW	1	25532630	missense	probably benign	0.01
R7378:Adgrb3	UTSW	1	25531919	nonsense	probably null
R7489:Adgrb3	UTSW	1	25547505	missense	probably damaging	1.00
R7615:Adgrb3	UTSW	1	25098897	missense	probably damaging	1.00
R7623:Adgrb3	UTSW	1	25547548	missense	probably damaging	1.00
R7787:Adgrb3	UTSW	1	25432544	missense	probably damaging	1.00
R7837:Adgrb3	UTSW	1	25128834	missense	probably damaging	1.00
R8064:Adgrb3	UTSW	1	25420556	critical splice donor site	probably null
R8152:Adgrb3	UTSW	1	25221757	splice site	probably null
R8161:Adgrb3	UTSW	1	25093922	missense	probably benign	0.03
R8225:Adgrb3	UTSW	1	25826516	missense	probably benign	0.00
R8417:Adgrb3	UTSW	1	25488053	missense	probably benign	0.21
R8694:Adgrb3	UTSW	1	25826391	missense	probably damaging	0.98
R8742:Adgrb3	UTSW	1	25226754	missense	probably benign	0.01
R8886:Adgrb3	UTSW	1	25111847	missense	probably damaging	1.00
R8941:Adgrb3	UTSW	1	25094154	missense	probably damaging	1.00
R8958:Adgrb3	UTSW	1	25826109	missense	possibly damaging	0.68
R8979:Adgrb3	UTSW	1	25488034	missense	probably benign	0.03
R9064:Adgrb3	UTSW	1	25531884	missense	possibly damaging	0.86
R9252:Adgrb3	UTSW	1	25826415	missense	probably benign	0.03
R9401:Adgrb3	UTSW	1	25553702	missense	probably damaging	1.00
R9739:Adgrb3	UTSW	1	25553768	missense	probably damaging	1.00
Z1088:Adgrb3	UTSW	1	25131271	missense	probably damaging	1.00
Z1176:Adgrb3	UTSW	1	25093914	missense	probably benign	0.37

Posted On

2013-01-08