Mutagenetix > Incidental Mutation

Incidental Mutation 'R4713:Adgrb3'

353341

Institutional Source

Beutler Lab

Gene Symbol

Adgrb3

Ensembl Gene

ENSMUSG00000033569

Gene Name

adhesion G protein-coupled receptor B3

Synonyms

Bai3, A830096D10Rik

MMRRC Submission

041601-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

R4713 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25067476-25829707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25547532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 360 (T360K)

Ref Sequence

ENSEMBL: ENSMUSP00000116231 (fasta)

Gene Model

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

AlphaFold

Q80ZF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041838
AA Change: T360K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: T360K

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 damaging
Transcript: ENSMUST00000135518
AA Change: T360K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: T360K

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 damaging
Transcript: ENSMUST00000146592
AA Change: T153K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569
AA Change: T153K

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 damaging
Transcript: ENSMUST00000151309
AA Change: T360K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: T360K

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AW551984	T	C	9: 39,597,153 (GRCm38)	K356E	probably benign	Het
Bpifb2	T	A	2: 153,881,193 (GRCm38)	V123E	probably damaging	Het
Cacna1a	T	G	8: 84,549,514 (GRCm38)	F532V	probably damaging	Het
Cct8	C	A	16: 87,487,688 (GRCm38)	E204*	probably null	Het
Cd163	T	A	6: 124,317,618 (GRCm38)		probably null	Het
Cep152	C	A	2: 125,587,948 (GRCm38)	A685S	possibly damaging	Het
Chdh	A	G	14: 30,036,841 (GRCm38)	D581G	probably benign	Het
Cnpy3	A	C	17: 46,747,465 (GRCm38)	Y77*	probably null	Het
Col5a3	T	C	9: 20,793,574 (GRCm38)	E762G	unknown	Het
Creb3	A	G	4: 43,563,247 (GRCm38)	T115A	probably benign	Het
Dlat	G	T	9: 50,644,481 (GRCm38)	A412E	probably benign	Het
Dnah2	T	C	11: 69,476,688 (GRCm38)	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,491,804 (GRCm38)	E370K	probably benign	Het
Eif3m	A	T	2: 105,006,839 (GRCm38)		probably null	Het
Gimap8	A	T	6: 48,658,986 (GRCm38)	M562L	probably benign	Het
Gm15448	G	T	7: 3,822,681 (GRCm38)	Y396*	probably null	Het
Gprc6a	T	A	10: 51,631,457 (GRCm38)		probably benign	Het
Gsr	T	G	8: 33,680,319 (GRCm38)		probably null	Het
Gstcd	A	G	3: 132,983,099 (GRCm38)	V630A	probably damaging	Het
Hip1r	T	C	5: 123,989,980 (GRCm38)	I116T	probably benign	Het
Hivep3	A	G	4: 120,131,803 (GRCm38)	E1817G	probably damaging	Het
Inpp5f	A	C	7: 128,663,725 (GRCm38)	T135P	probably damaging	Het
Ism2	A	G	12: 87,285,027 (GRCm38)		silent	Het
Itga11	A	G	9: 62,765,788 (GRCm38)	D784G	probably damaging	Het
Itpr2	A	G	6: 146,373,173 (GRCm38)	F837S	probably damaging	Het
Itpr2	T	C	6: 146,396,958 (GRCm38)	E10G	probably damaging	Het
Knl1	A	T	2: 119,069,137 (GRCm38)	K440*	probably null	Het
Lonp2	T	C	8: 86,713,315 (GRCm38)	S648P	probably damaging	Het
Lrba	T	C	3: 86,359,868 (GRCm38)	S1622P	probably benign	Het
Lrp2	G	T	2: 69,487,966 (GRCm38)	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,803,577 (GRCm38)	T773I	probably benign	Het
Mfsd7a	T	C	5: 108,442,079 (GRCm38)	T486A	probably damaging	Het
Mki67	A	G	7: 135,695,469 (GRCm38)	V2612A	probably benign	Het
Mnx1	C	A	5: 29,478,131 (GRCm38)	G49W	probably damaging	Het
Muc5b	T	A	7: 141,849,079 (GRCm38)	Y673*	probably null	Het
Myo15	A	G	11: 60,479,930 (GRCm38)	H1172R	probably benign	Het
Myo1g	T	C	11: 6,516,080 (GRCm38)	K363R	probably null	Het
Ncoa4	T	A	14: 32,176,641 (GRCm38)	C473S	probably benign	Het
Nefh	T	C	11: 4,939,656 (GRCm38)	T988A	unknown	Het
Nwd2	T	A	5: 63,804,460 (GRCm38)	D462E	probably benign	Het
Olfr332	T	C	11: 58,490,087 (GRCm38)	T223A	probably benign	Het
Plec	T	C	15: 76,181,067 (GRCm38)	E1466G	unknown	Het
Prl3d2	G	T	13: 27,122,396 (GRCm38)	M35I	probably benign	Het
Reln	T	A	5: 22,152,463 (GRCm38)	I202F	probably benign	Het
Rhot1	T	A	11: 80,225,602 (GRCm38)	D78E	probably benign	Het
Rsph3b	T	C	17: 6,905,129 (GRCm38)		probably null	Het
Scn10a	C	T	9: 119,609,651 (GRCm38)	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,249,296 (GRCm38)	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,457,080 (GRCm38)	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,099,283 (GRCm38)	V261A	possibly damaging	Het
Ssmem1	A	G	6: 30,519,514 (GRCm38)	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,425,477 (GRCm38)	N72K	probably benign	Het
Tbx10	T	C	19: 3,996,921 (GRCm38)	L108P	probably damaging	Het
Tex14	T	C	11: 87,536,865 (GRCm38)	S48P	probably damaging	Het
Tmie	A	G	9: 110,867,528 (GRCm38)	L95P	probably damaging	Het
Tom1l2	C	G	11: 60,270,433 (GRCm38)	R84P	probably damaging	Het
Trpm3	T	A	19: 22,889,435 (GRCm38)	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,080,131 (GRCm38)	R49S	probably benign	Het
Vps8	A	T	16: 21,442,439 (GRCm38)	S110C	probably damaging	Het
Zfp791	T	A	8: 85,110,968 (GRCm38)	N89I	probably damaging	Het

Other mutations in Adgrb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Adgrb3	APN	1	25,228,500 (GRCm38)	missense	probably benign	0.09
IGL00507:Adgrb3	APN	1	25,074,715 (GRCm38)	missense	possibly damaging	0.93
IGL00828:Adgrb3	APN	1	25,488,119 (GRCm38)	missense	possibly damaging	0.73
IGL01285:Adgrb3	APN	1	25,093,787 (GRCm38)	missense	probably benign	0.32
IGL01309:Adgrb3	APN	1	25,112,271 (GRCm38)	missense	possibly damaging	0.69
IGL01540:Adgrb3	APN	1	25,112,171 (GRCm38)	splice site	probably null
IGL01608:Adgrb3	APN	1	25,553,774 (GRCm38)	missense	probably damaging	1.00
IGL01638:Adgrb3	APN	1	25,559,751 (GRCm38)	splice site	probably benign
IGL01657:Adgrb3	APN	1	25,826,493 (GRCm38)	missense	probably benign	0.03
IGL01666:Adgrb3	APN	1	25,460,751 (GRCm38)	missense	probably damaging	0.96
IGL01712:Adgrb3	APN	1	25,826,279 (GRCm38)	missense	probably benign
IGL01767:Adgrb3	APN	1	25,559,814 (GRCm38)	missense	probably benign	0.00
IGL01987:Adgrb3	APN	1	25,101,431 (GRCm38)	critical splice donor site	probably null
IGL02201:Adgrb3	APN	1	25,420,550 (GRCm38)	splice site	probably benign
IGL02584:Adgrb3	APN	1	25,504,984 (GRCm38)	missense	probably damaging	0.98
IGL02685:Adgrb3	APN	1	25,084,242 (GRCm38)	critical splice donor site	probably null
IGL02886:Adgrb3	APN	1	25,504,910 (GRCm38)	splice site	probably null
IGL02929:Adgrb3	APN	1	25,553,824 (GRCm38)	missense	probably benign	0.00
IGL03153:Adgrb3	APN	1	25,531,897 (GRCm38)	nonsense	probably null
IGL03165:Adgrb3	APN	1	25,094,394 (GRCm38)	missense	probably benign	0.05
IGL03227:Adgrb3	APN	1	25,547,475 (GRCm38)	missense	probably damaging	1.00
IGL03392:Adgrb3	APN	1	25,504,448 (GRCm38)	missense	probably damaging	0.99
schwach	UTSW	1	25,111,691 (GRCm38)	critical splice donor site	probably null
R0007:Adgrb3	UTSW	1	25,111,691 (GRCm38)	critical splice donor site	probably null
R0048:Adgrb3	UTSW	1	25,101,482 (GRCm38)	missense	probably benign	0.02
R0048:Adgrb3	UTSW	1	25,101,482 (GRCm38)	missense	probably benign	0.02
R0322:Adgrb3	UTSW	1	25,221,748 (GRCm38)	splice site	probably benign
R0442:Adgrb3	UTSW	1	25,396,470 (GRCm38)	missense	probably damaging	0.96
R0563:Adgrb3	UTSW	1	25,547,554 (GRCm38)	missense	probably damaging	0.99
R1168:Adgrb3	UTSW	1	25,826,199 (GRCm38)	missense	probably benign
R1252:Adgrb3	UTSW	1	25,128,828 (GRCm38)	missense	probably damaging	1.00
R1264:Adgrb3	UTSW	1	25,559,850 (GRCm38)	missense	probably damaging	0.97
R1543:Adgrb3	UTSW	1	25,488,088 (GRCm38)	missense	probably benign	0.01
R1577:Adgrb3	UTSW	1	25,094,183 (GRCm38)	missense	possibly damaging	0.51
R1581:Adgrb3	UTSW	1	25,094,072 (GRCm38)	missense	possibly damaging	0.94
R1583:Adgrb3	UTSW	1	25,226,831 (GRCm38)	splice site	probably null
R1653:Adgrb3	UTSW	1	25,101,503 (GRCm38)	missense	probably benign	0.09
R1725:Adgrb3	UTSW	1	25,826,300 (GRCm38)	missense	probably damaging	1.00
R1792:Adgrb3	UTSW	1	25,228,471 (GRCm38)	missense	probably damaging	1.00
R1827:Adgrb3	UTSW	1	25,532,577 (GRCm38)	missense	probably damaging	0.99
R1838:Adgrb3	UTSW	1	25,084,270 (GRCm38)	missense	probably damaging	1.00
R1869:Adgrb3	UTSW	1	25,826,438 (GRCm38)	missense	possibly damaging	0.83
R1971:Adgrb3	UTSW	1	25,547,444 (GRCm38)	missense	probably benign	0.02
R2005:Adgrb3	UTSW	1	25,111,718 (GRCm38)	missense	probably benign	0.25
R2134:Adgrb3	UTSW	1	25,093,957 (GRCm38)	missense	probably damaging	0.99
R2142:Adgrb3	UTSW	1	25,068,209 (GRCm38)	missense	probably damaging	1.00
R2268:Adgrb3	UTSW	1	25,111,817 (GRCm38)	missense	possibly damaging	0.79
R3740:Adgrb3	UTSW	1	25,826,454 (GRCm38)	missense	probably benign	0.00
R3877:Adgrb3	UTSW	1	25,111,825 (GRCm38)	missense	probably damaging	1.00
R4120:Adgrb3	UTSW	1	25,094,307 (GRCm38)	nonsense	probably null
R4344:Adgrb3	UTSW	1	25,826,748 (GRCm38)	missense	possibly damaging	0.61
R4363:Adgrb3	UTSW	1	25,112,222 (GRCm38)	missense	probably damaging	1.00
R4438:Adgrb3	UTSW	1	25,831,027 (GRCm38)	unclassified	probably benign
R4465:Adgrb3	UTSW	1	25,094,366 (GRCm38)	missense	probably damaging	1.00
R4480:Adgrb3	UTSW	1	25,111,748 (GRCm38)	missense	probably damaging	1.00
R4554:Adgrb3	UTSW	1	25,084,279 (GRCm38)	missense	probably damaging	1.00
R4557:Adgrb3	UTSW	1	25,084,279 (GRCm38)	missense	probably damaging	1.00
R4622:Adgrb3	UTSW	1	25,826,488 (GRCm38)	missense	probably damaging	0.99
R4772:Adgrb3	UTSW	1	25,531,875 (GRCm38)	missense	probably damaging	1.00
R4890:Adgrb3	UTSW	1	25,221,827 (GRCm38)	missense	probably damaging	1.00
R5045:Adgrb3	UTSW	1	25,074,779 (GRCm38)	missense	probably damaging	1.00
R5061:Adgrb3	UTSW	1	25,068,128 (GRCm38)	utr 3 prime	probably benign
R5097:Adgrb3	UTSW	1	25,826,084 (GRCm38)	missense	probably damaging	1.00
R5227:Adgrb3	UTSW	1	25,093,952 (GRCm38)	missense	possibly damaging	0.55
R5241:Adgrb3	UTSW	1	25,111,790 (GRCm38)	missense	possibly damaging	0.85
R5328:Adgrb3	UTSW	1	25,094,275 (GRCm38)	missense	possibly damaging	0.90
R5372:Adgrb3	UTSW	1	25,128,859 (GRCm38)	missense	probably benign	0.01
R5703:Adgrb3	UTSW	1	25,420,559 (GRCm38)	missense	probably damaging	1.00
R5747:Adgrb3	UTSW	1	25,826,562 (GRCm38)	missense	probably damaging	1.00
R5998:Adgrb3	UTSW	1	25,431,501 (GRCm38)	splice site	probably null
R6006:Adgrb3	UTSW	1	25,826,531 (GRCm38)	missense	possibly damaging	0.85
R6077:Adgrb3	UTSW	1	25,094,000 (GRCm38)	nonsense	probably null
R6183:Adgrb3	UTSW	1	25,094,370 (GRCm38)	missense	probably damaging	0.98
R6190:Adgrb3	UTSW	1	25,420,647 (GRCm38)	missense	probably benign	0.01
R6249:Adgrb3	UTSW	1	25,432,558 (GRCm38)	missense	probably damaging	1.00
R6310:Adgrb3	UTSW	1	25,111,718 (GRCm38)	missense	probably benign	0.13
R6450:Adgrb3	UTSW	1	25,420,602 (GRCm38)	missense	probably benign
R6678:Adgrb3	UTSW	1	25,460,810 (GRCm38)	missense	possibly damaging	0.84
R6679:Adgrb3	UTSW	1	25,131,296 (GRCm38)	missense	probably benign	0.01
R6685:Adgrb3	UTSW	1	25,111,736 (GRCm38)	nonsense	probably null
R6730:Adgrb3	UTSW	1	25,094,294 (GRCm38)	missense	probably damaging	1.00
R6805:Adgrb3	UTSW	1	25,826,172 (GRCm38)	missense	possibly damaging	0.83
R6847:Adgrb3	UTSW	1	25,093,922 (GRCm38)	missense	probably benign	0.03
R6929:Adgrb3	UTSW	1	25,111,771 (GRCm38)	nonsense	probably null
R6953:Adgrb3	UTSW	1	25,826,511 (GRCm38)	missense	probably damaging	1.00
R7062:Adgrb3	UTSW	1	25,826,085 (GRCm38)	missense	possibly damaging	0.90
R7244:Adgrb3	UTSW	1	25,131,269 (GRCm38)	missense	probably damaging	1.00
R7292:Adgrb3	UTSW	1	25,531,876 (GRCm38)	missense	probably damaging	1.00
R7325:Adgrb3	UTSW	1	25,532,630 (GRCm38)	missense	probably benign	0.01
R7378:Adgrb3	UTSW	1	25,531,919 (GRCm38)	nonsense	probably null
R7489:Adgrb3	UTSW	1	25,547,505 (GRCm38)	missense	probably damaging	1.00
R7615:Adgrb3	UTSW	1	25,098,897 (GRCm38)	missense	probably damaging	1.00
R7623:Adgrb3	UTSW	1	25,547,548 (GRCm38)	missense	probably damaging	1.00
R7787:Adgrb3	UTSW	1	25,432,544 (GRCm38)	missense	probably damaging	1.00
R7837:Adgrb3	UTSW	1	25,128,834 (GRCm38)	missense	probably damaging	1.00
R8064:Adgrb3	UTSW	1	25,420,556 (GRCm38)	critical splice donor site	probably null
R8152:Adgrb3	UTSW	1	25,221,757 (GRCm38)	splice site	probably null
R8161:Adgrb3	UTSW	1	25,093,922 (GRCm38)	missense	probably benign	0.03
R8225:Adgrb3	UTSW	1	25,826,516 (GRCm38)	missense	probably benign	0.00
R8417:Adgrb3	UTSW	1	25,488,053 (GRCm38)	missense	probably benign	0.21
R8694:Adgrb3	UTSW	1	25,826,391 (GRCm38)	missense	probably damaging	0.98
R8742:Adgrb3	UTSW	1	25,226,754 (GRCm38)	missense	probably benign	0.01
R8886:Adgrb3	UTSW	1	25,111,847 (GRCm38)	missense	probably damaging	1.00
R8941:Adgrb3	UTSW	1	25,094,154 (GRCm38)	missense	probably damaging	1.00
R8958:Adgrb3	UTSW	1	25,826,109 (GRCm38)	missense	possibly damaging	0.68
R8979:Adgrb3	UTSW	1	25,488,034 (GRCm38)	missense	probably benign	0.03
R9064:Adgrb3	UTSW	1	25,531,884 (GRCm38)	missense	possibly damaging	0.86
R9252:Adgrb3	UTSW	1	25,826,415 (GRCm38)	missense	probably benign	0.03
R9401:Adgrb3	UTSW	1	25,553,702 (GRCm38)	missense	probably damaging	1.00
R9739:Adgrb3	UTSW	1	25,553,768 (GRCm38)	missense	probably damaging	1.00
Z1088:Adgrb3	UTSW	1	25,131,271 (GRCm38)	missense	probably damaging	1.00
Z1176:Adgrb3	UTSW	1	25,093,914 (GRCm38)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GGGAACACTTTTCAGCAAGGC -3'
(R):5'- CCTTATTCTTCATAGGTGACCATGC -3'

Sequencing Primer
(F):5'- TTCAGCAAGGCTCAATAAGAGTTG -3'
(R):5'- TTTCCACTTAAAAAGGTGAAAGGG -3'

Posted On

2015-10-21