Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01874:Adgrb1'

178825

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgrb1

Ensembl Gene

ENSMUSG00000034730

Gene Name

adhesion G protein-coupled receptor B1

Synonyms

B830018M07Rik, Bai1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01874

Quality Score

Status

Chromosome

Chromosomal Location

74388045-74461314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74413423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 536 (V536I)

Ref Sequence

ENSEMBL: ENSMUSP00000046097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042035] [ENSMUST00000186360] [ENSMUST00000187485]

AlphaFold

Q3UHD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042035
AA Change: V536I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046097
Gene: ENSMUSG00000034730
AA Change: V536I

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
low complexity region	141	160	N/A	INTRINSIC
TSP1	264	315	4.69e-10	SMART
low complexity region	319	329	N/A	INTRINSIC
TSP1	357	407	3.5e-9	SMART
TSP1	412	462	3.16e-16	SMART
TSP1	470	520	7.15e-15	SMART
TSP1	525	575	3.11e-15	SMART
HormR	577	643	2.55e-20	SMART
Pfam:GAIN	656	859	1e-46	PFAM
GPS	880	938	1.46e-18	SMART
Pfam:7tm_2	944	1180	3.3e-66	PFAM
SCOP:d1jvr__	1396	1432	5e-4	SMART
low complexity region	1441	1455	N/A	INTRINSIC
low complexity region	1545	1556	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186360
AA Change: V536I

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140362
Gene: ENSMUSG00000034730
AA Change: V536I

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
low complexity region	141	160	N/A	INTRINSIC
TSP1	264	315	2.2e-12	SMART
low complexity region	319	329	N/A	INTRINSIC
TSP1	357	407	1.7e-11	SMART
TSP1	412	462	1.5e-18	SMART
TSP1	470	520	3.4e-17	SMART
TSP1	525	575	1.5e-17	SMART
HormR	577	643	1.6e-22	SMART
Pfam:DUF3497	653	874	1.2e-44	PFAM
GPS	880	938	8.9e-21	SMART
Pfam:7tm_2	944	1106	9.6e-43	PFAM
low complexity region	1113	1143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187485

SMART Domains

Protein: ENSMUSP00000140959
Gene: ENSMUSG00000034730

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
low complexity region	141	160	N/A	INTRINSIC
TSP1	264	315	2.2e-12	SMART
low complexity region	319	329	N/A	INTRINSIC
low complexity region	371	386	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189200

Meta Mutation Damage Score

0.1240

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	T	13: 70,916,823 (GRCm39)	V723D	possibly damaging	Het
Aox4	T	C	1: 58,291,243 (GRCm39)	L787S	probably damaging	Het
Atp2c1	A	C	9: 105,326,024 (GRCm39)	V293G	probably damaging	Het
Ccnb1	T	C	13: 100,920,001 (GRCm39)	D170G	probably damaging	Het
Cdc42	T	C	4: 137,063,381 (GRCm39)	I4V	probably benign	Het
Clip1	T	C	5: 123,741,729 (GRCm39)	Q1175R	possibly damaging	Het
Cox6a1	A	G	5: 115,483,904 (GRCm39)	*113Q	probably null	Het
Crtc2	C	T	3: 90,165,815 (GRCm39)	P139L	probably damaging	Het
Cyp8b1	A	T	9: 121,744,969 (GRCm39)	M121K	possibly damaging	Het
D630003M21Rik	C	A	2: 158,046,644 (GRCm39)	G778C	probably damaging	Het
Dgat1	A	G	15: 76,387,241 (GRCm39)	F349L	probably damaging	Het
Enox1	A	G	14: 77,816,602 (GRCm39)	Y194C	probably damaging	Het
Fam120b	T	A	17: 15,623,301 (GRCm39)	C426*	probably null	Het
Fxyd3	A	G	7: 30,770,318 (GRCm39)		probably benign	Het
Gin1	A	G	1: 97,710,797 (GRCm39)	Y160C	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm11110	T	A	17: 57,399,693 (GRCm39)		probably benign	Het
Gm1818	T	C	12: 48,602,973 (GRCm39)		noncoding transcript	Het
Gucy1a2	T	C	9: 3,797,343 (GRCm39)	S598P	probably damaging	Het
Hook3	T	A	8: 26,529,760 (GRCm39)	N199Y	possibly damaging	Het
Il10ra	A	G	9: 45,178,458 (GRCm39)	L41P	probably damaging	Het
Itgam	C	T	7: 127,714,338 (GRCm39)	T949I	probably damaging	Het
Kctd3	A	G	1: 188,729,188 (GRCm39)	V123A	probably damaging	Het
Krt84	G	A	15: 101,436,239 (GRCm39)	A450V	probably damaging	Het
Lrrc7	G	A	3: 157,946,080 (GRCm39)		probably benign	Het
Nckap1	A	G	2: 80,355,980 (GRCm39)	F608L	probably damaging	Het
Niban2	A	T	2: 32,795,779 (GRCm39)		probably null	Het
Nmbr	A	T	10: 14,642,696 (GRCm39)	Y85F	probably benign	Het
Nol6	A	C	4: 41,115,412 (GRCm39)	L1135R	probably damaging	Het
Ntan1	T	C	16: 13,653,077 (GRCm39)	F278L	probably benign	Het
Or2n1e	T	A	17: 38,586,408 (GRCm39)	S249T	probably benign	Het
Pcsk5	T	A	19: 17,573,041 (GRCm39)	T474S	probably damaging	Het
Pex11b	T	A	3: 96,550,883 (GRCm39)		probably null	Het
Pkhd1	G	T	1: 20,173,459 (GRCm39)	A3786E	probably benign	Het
Prkdc	T	C	16: 15,552,858 (GRCm39)	I2098T	possibly damaging	Het
Prl2c5	T	A	13: 13,365,362 (GRCm39)	S169R	probably benign	Het
Ptbp2	A	G	3: 119,541,449 (GRCm39)	V196A	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Skic2	T	C	17: 35,060,185 (GRCm39)	N114D	probably benign	Het
Slc47a2	T	A	11: 61,203,685 (GRCm39)		probably null	Het
Srcin1	A	T	11: 97,423,924 (GRCm39)	M684K	possibly damaging	Het
Sspo	T	A	6: 48,429,124 (GRCm39)	C298S	probably damaging	Het
Tenm3	G	T	8: 48,689,793 (GRCm39)	Y1915*	probably null	Het
Tnks1bp1	A	G	2: 84,888,791 (GRCm39)	T373A	probably benign	Het
Trp63	A	C	16: 25,701,335 (GRCm39)	N470H	possibly damaging	Het
Ttn	T	C	2: 76,628,907 (GRCm39)	N12703S	probably damaging	Het
Ubr4	T	C	4: 139,120,600 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,449,602 (GRCm39)	Y212F	probably benign	Het

Other mutations in Adgrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Adgrb1	APN	15	74,458,684 (GRCm39)	missense	probably damaging	1.00
IGL01748:Adgrb1	APN	15	74,420,206 (GRCm39)	splice site	probably benign
IGL02040:Adgrb1	APN	15	74,413,424 (GRCm39)	missense	possibly damaging	0.91
IGL02138:Adgrb1	APN	15	74,401,631 (GRCm39)	missense	probably damaging	1.00
IGL02149:Adgrb1	APN	15	74,412,326 (GRCm39)	missense	probably damaging	1.00
IGL02320:Adgrb1	APN	15	74,445,961 (GRCm39)	missense	probably damaging	1.00
IGL02556:Adgrb1	APN	15	74,458,654 (GRCm39)	missense	probably damaging	0.99
IGL02637:Adgrb1	APN	15	74,460,143 (GRCm39)	splice site	probably benign
IGL02678:Adgrb1	APN	15	74,410,177 (GRCm39)	missense	probably damaging	0.99
IGL02792:Adgrb1	APN	15	74,419,471 (GRCm39)	missense	probably damaging	0.98
Bunting	UTSW	15	74,415,550 (GRCm39)	missense	probably null	0.94
BB005:Adgrb1	UTSW	15	74,410,170 (GRCm39)	missense	probably damaging	1.00
BB015:Adgrb1	UTSW	15	74,410,170 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Adgrb1	UTSW	15	74,413,508 (GRCm39)	missense	probably damaging	0.99
R0193:Adgrb1	UTSW	15	74,444,005 (GRCm39)	missense	probably damaging	1.00
R0208:Adgrb1	UTSW	15	74,458,656 (GRCm39)	missense	probably benign
R0267:Adgrb1	UTSW	15	74,401,238 (GRCm39)	missense	probably damaging	1.00
R0336:Adgrb1	UTSW	15	74,458,998 (GRCm39)	missense	probably benign	0.06
R0345:Adgrb1	UTSW	15	74,415,198 (GRCm39)	missense	probably damaging	0.97
R0533:Adgrb1	UTSW	15	74,413,408 (GRCm39)	missense	probably damaging	1.00
R0635:Adgrb1	UTSW	15	74,412,741 (GRCm39)	missense	possibly damaging	0.88
R0729:Adgrb1	UTSW	15	74,420,398 (GRCm39)	missense	probably damaging	1.00
R0792:Adgrb1	UTSW	15	74,452,466 (GRCm39)	missense	probably damaging	1.00
R1122:Adgrb1	UTSW	15	74,419,534 (GRCm39)	missense	probably damaging	0.99
R1295:Adgrb1	UTSW	15	74,421,888 (GRCm39)	missense	probably damaging	1.00
R1522:Adgrb1	UTSW	15	74,452,466 (GRCm39)	missense	probably damaging	1.00
R1696:Adgrb1	UTSW	15	74,459,956 (GRCm39)	missense	probably damaging	1.00
R1707:Adgrb1	UTSW	15	74,401,192 (GRCm39)	missense	probably damaging	0.99
R1750:Adgrb1	UTSW	15	74,413,676 (GRCm39)	missense	probably benign	0.23
R1804:Adgrb1	UTSW	15	74,401,389 (GRCm39)	missense	probably damaging	1.00
R1829:Adgrb1	UTSW	15	74,452,435 (GRCm39)	nonsense	probably null
R1895:Adgrb1	UTSW	15	74,412,314 (GRCm39)	missense	probably damaging	1.00
R1970:Adgrb1	UTSW	15	74,411,726 (GRCm39)	splice site	probably benign
R2114:Adgrb1	UTSW	15	74,412,411 (GRCm39)	critical splice donor site	probably null
R2133:Adgrb1	UTSW	15	74,401,757 (GRCm39)	missense	probably damaging	1.00
R2210:Adgrb1	UTSW	15	74,419,553 (GRCm39)	missense	probably damaging	1.00
R3701:Adgrb1	UTSW	15	74,416,864 (GRCm39)	missense	probably damaging	0.99
R3770:Adgrb1	UTSW	15	74,460,157 (GRCm39)	missense	probably damaging	1.00
R3980:Adgrb1	UTSW	15	74,454,792 (GRCm39)	missense	probably damaging	1.00
R4355:Adgrb1	UTSW	15	74,415,511 (GRCm39)	missense	probably damaging	1.00
R4412:Adgrb1	UTSW	15	74,449,302 (GRCm39)	unclassified	probably benign
R4634:Adgrb1	UTSW	15	74,456,278 (GRCm39)	utr 3 prime	probably benign
R4683:Adgrb1	UTSW	15	74,459,963 (GRCm39)	missense	probably damaging	1.00
R4742:Adgrb1	UTSW	15	74,401,328 (GRCm39)	nonsense	probably null
R4760:Adgrb1	UTSW	15	74,443,312 (GRCm39)	missense	probably damaging	1.00
R4794:Adgrb1	UTSW	15	74,459,978 (GRCm39)	missense	probably damaging	1.00
R4880:Adgrb1	UTSW	15	74,458,871 (GRCm39)	missense	possibly damaging	0.85
R4885:Adgrb1	UTSW	15	74,444,011 (GRCm39)	missense	probably benign	0.04
R5092:Adgrb1	UTSW	15	74,401,664 (GRCm39)	missense	probably benign	0.39
R5198:Adgrb1	UTSW	15	74,415,550 (GRCm39)	missense	probably null	0.94
R5225:Adgrb1	UTSW	15	74,449,348 (GRCm39)	unclassified	probably benign
R5421:Adgrb1	UTSW	15	74,421,876 (GRCm39)	missense	probably damaging	1.00
R5764:Adgrb1	UTSW	15	74,413,423 (GRCm39)	missense	possibly damaging	0.95
R5914:Adgrb1	UTSW	15	74,410,219 (GRCm39)	missense	possibly damaging	0.54
R6035:Adgrb1	UTSW	15	74,412,292 (GRCm39)	missense	possibly damaging	0.50
R6035:Adgrb1	UTSW	15	74,412,292 (GRCm39)	missense	possibly damaging	0.50
R6066:Adgrb1	UTSW	15	74,412,308 (GRCm39)	missense	probably damaging	0.99
R6423:Adgrb1	UTSW	15	74,459,992 (GRCm39)	critical splice donor site	probably null
R6811:Adgrb1	UTSW	15	74,401,210 (GRCm39)	missense	probably damaging	1.00
R6945:Adgrb1	UTSW	15	74,421,873 (GRCm39)	missense	probably damaging	0.99
R7012:Adgrb1	UTSW	15	74,401,750 (GRCm39)	missense	probably damaging	0.97
R7015:Adgrb1	UTSW	15	74,445,959 (GRCm39)	missense	probably damaging	1.00
R7061:Adgrb1	UTSW	15	74,441,730 (GRCm39)	missense	probably benign	0.00
R7209:Adgrb1	UTSW	15	74,441,797 (GRCm39)	missense	possibly damaging	0.85
R7213:Adgrb1	UTSW	15	74,441,733 (GRCm39)	missense	probably benign
R7283:Adgrb1	UTSW	15	74,452,512 (GRCm39)	missense	possibly damaging	0.94
R7329:Adgrb1	UTSW	15	74,411,094 (GRCm39)	missense	probably damaging	0.99
R7616:Adgrb1	UTSW	15	74,420,418 (GRCm39)	missense	probably damaging	0.98
R7695:Adgrb1	UTSW	15	74,415,487 (GRCm39)	missense	possibly damaging	0.95
R7928:Adgrb1	UTSW	15	74,410,170 (GRCm39)	missense	probably damaging	1.00
R8152:Adgrb1	UTSW	15	74,416,849 (GRCm39)	missense	probably damaging	0.98
R8152:Adgrb1	UTSW	15	74,413,460 (GRCm39)	missense	probably benign	0.00
R8198:Adgrb1	UTSW	15	74,411,094 (GRCm39)	missense	probably damaging	0.99
R8485:Adgrb1	UTSW	15	74,420,153 (GRCm39)	missense	probably damaging	1.00
R8528:Adgrb1	UTSW	15	74,447,700 (GRCm39)	missense	possibly damaging	0.51
R8534:Adgrb1	UTSW	15	74,415,357 (GRCm39)	missense	probably damaging	0.97
R8865:Adgrb1	UTSW	15	74,415,507 (GRCm39)	missense	possibly damaging	0.75
R9044:Adgrb1	UTSW	15	74,441,748 (GRCm39)	missense	possibly damaging	0.95
R9098:Adgrb1	UTSW	15	74,415,189 (GRCm39)	missense	probably damaging	1.00
R9157:Adgrb1	UTSW	15	74,411,624 (GRCm39)	missense	probably damaging	0.98
R9166:Adgrb1	UTSW	15	74,420,475 (GRCm39)	missense	probably benign	0.00
R9313:Adgrb1	UTSW	15	74,411,624 (GRCm39)	missense	probably damaging	0.98
R9445:Adgrb1	UTSW	15	74,435,807 (GRCm39)	critical splice acceptor site	probably benign
Z1177:Adgrb1	UTSW	15	74,419,532 (GRCm39)	missense	probably damaging	0.99
Z1177:Adgrb1	UTSW	15	74,413,525 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07