Mutagenetix > Incidental Mutation

Incidental Mutation 'R4475:Adgra3'

330516

Institutional Source

Beutler Lab

Gene Symbol

Adgra3

Ensembl Gene

ENSMUSG00000029090

Gene Name

adhesion G protein-coupled receptor A3

Synonyms

Tem5-like, 3830613O22Rik, Gpr125

MMRRC Submission

041732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4475 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50117293-50216338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50159240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 337 (Y337N)

Ref Sequence

ENSEMBL: ENSMUSP00000030971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030971]

AlphaFold

Q7TT36

Predicted Effect

probably damaging
Transcript: ENSMUST00000030971
AA Change: Y337N

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

SMART Domains

Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: Y337N

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	36	48	N/A	INTRINSIC
LRR	68	92	1.71e1	SMART
LRR_TYP	93	116	2.27e-4	SMART
LRR_TYP	117	140	4.11e-2	SMART
LRR_TYP	141	164	3.89e-3	SMART
LRRCT	176	225	5.24e-5	SMART
IG	238	331	8.26e-5	SMART
GPS	686	738	4.81e-3	SMART
Pfam:7tm_2	746	1031	1.6e-16	PFAM
low complexity region	1251	1262	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198818

Meta Mutation Damage Score

0.5054

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

97% (38/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor superfamily. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygous mutant mice are fertile and grossly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	A	16: 14,407,227 (GRCm39)	I52N	possibly damaging	Het
Aga	T	C	8: 53,964,871 (GRCm39)	L11P	probably damaging	Het
Akap6	T	C	12: 53,188,426 (GRCm39)	F1947L	probably benign	Het
Atp6v1c1	T	C	15: 38,677,817 (GRCm39)	I114T	probably benign	Het
Bltp1	A	G	3: 37,094,544 (GRCm39)	T904A	probably damaging	Het
Dbh	T	A	2: 27,070,984 (GRCm39)		probably null	Het
Dgkh	T	C	14: 78,827,318 (GRCm39)	D858G	possibly damaging	Het
Dlx5	T	C	6: 6,881,663 (GRCm39)	Y75C	probably damaging	Het
Dnah8	T	C	17: 30,875,959 (GRCm39)	F529L	probably benign	Het
Epg5	A	C	18: 77,991,723 (GRCm39)	D140A	probably benign	Het
Esr2	C	T	12: 76,180,716 (GRCm39)	D402N	probably benign	Het
Hells	A	G	19: 38,933,973 (GRCm39)	T265A	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hspa8	T	A	9: 40,715,442 (GRCm39)		probably benign	Het
Ighm	A	G	12: 113,384,513 (GRCm39)		probably benign	Het
Nedd4	C	T	9: 72,578,521 (GRCm39)	R78*	probably null	Het
Nrxn1	G	T	17: 91,009,410 (GRCm39)	N388K	probably damaging	Het
Oprk1	T	A	1: 5,672,824 (GRCm39)	Y320*	probably null	Het
Or10j2	T	C	1: 173,098,480 (GRCm39)	V246A	probably damaging	Het
Or9s27	T	C	1: 92,516,301 (GRCm39)	V83A	probably benign	Het
Parn	A	G	16: 13,482,549 (GRCm39)	S100P	probably benign	Het
Piezo2	A	G	18: 63,235,170 (GRCm39)	L809P	probably damaging	Het
Plek	C	T	11: 16,935,528 (GRCm39)		probably null	Het
Prg4	T	C	1: 150,330,610 (GRCm39)		probably benign	Het
Rrs1	T	C	1: 9,615,810 (GRCm39)	L21P	probably damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Sim2	T	C	16: 93,926,650 (GRCm39)	S625P	probably benign	Het
Smpd5	T	C	15: 76,178,926 (GRCm39)	L98P	probably damaging	Het
Srpra	A	G	9: 35,124,155 (GRCm39)	K34E	possibly damaging	Het
Tbc1d2	A	G	4: 46,609,080 (GRCm39)	V719A	possibly damaging	Het
Tmem52b	C	T	6: 129,491,219 (GRCm39)	H37Y	probably benign	Het
Tnip1	A	G	11: 54,830,422 (GRCm39)		probably null	Het
Trim3	A	G	7: 105,267,009 (GRCm39)	Y457H	probably damaging	Het
Usp34	T	C	11: 23,407,975 (GRCm39)	I2600T	possibly damaging	Het
Vmn2r129	T	G	4: 156,691,085 (GRCm39)		noncoding transcript	Het
Zfp365	C	A	10: 67,724,750 (GRCm39)	K379N	possibly damaging	Het

Other mutations in Adgra3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Adgra3	APN	5	50,183,100 (GRCm39)	missense	probably damaging	1.00
IGL00848:Adgra3	APN	5	50,159,291 (GRCm39)	missense	probably damaging	1.00
IGL01455:Adgra3	APN	5	50,144,899 (GRCm39)	nonsense	probably null
IGL01665:Adgra3	APN	5	50,164,272 (GRCm39)	missense	possibly damaging	0.64
IGL02151:Adgra3	APN	5	50,136,484 (GRCm39)	missense	probably benign
IGL02239:Adgra3	APN	5	50,118,054 (GRCm39)	missense	probably damaging	1.00
IGL02351:Adgra3	APN	5	50,215,900 (GRCm39)	missense	probably benign	0.19
IGL02358:Adgra3	APN	5	50,215,900 (GRCm39)	missense	probably benign	0.19
IGL02938:Adgra3	APN	5	50,118,659 (GRCm39)	missense	probably benign	0.01
IGL03028:Adgra3	APN	5	50,174,194 (GRCm39)	missense	probably benign	0.30
aperture	UTSW	5	50,156,487 (GRCm39)	nonsense	probably null
saltatory	UTSW	5	50,117,901 (GRCm39)	missense	probably benign	0.09
ANU74:Adgra3	UTSW	5	50,118,380 (GRCm39)	missense	probably benign	0.16
R0041:Adgra3	UTSW	5	50,117,901 (GRCm39)	missense	probably benign	0.09
R0041:Adgra3	UTSW	5	50,117,901 (GRCm39)	missense	probably benign	0.09
R0121:Adgra3	UTSW	5	50,183,128 (GRCm39)	splice site	probably benign
R0125:Adgra3	UTSW	5	50,159,194 (GRCm39)	splice site	probably benign
R0137:Adgra3	UTSW	5	50,121,182 (GRCm39)	splice site	probably benign
R0415:Adgra3	UTSW	5	50,119,099 (GRCm39)	splice site	probably benign
R0479:Adgra3	UTSW	5	50,147,607 (GRCm39)	missense	probably benign	0.00
R0505:Adgra3	UTSW	5	50,166,676 (GRCm39)	critical splice donor site	probably null
R0831:Adgra3	UTSW	5	50,128,144 (GRCm39)	missense	probably damaging	1.00
R0883:Adgra3	UTSW	5	50,118,065 (GRCm39)	missense	probably damaging	1.00
R0920:Adgra3	UTSW	5	50,118,503 (GRCm39)	missense	probably benign	0.19
R1139:Adgra3	UTSW	5	50,119,097 (GRCm39)	splice site	probably null
R1211:Adgra3	UTSW	5	50,164,218 (GRCm39)	missense	possibly damaging	0.88
R1370:Adgra3	UTSW	5	50,118,129 (GRCm39)	missense	possibly damaging	0.56
R1530:Adgra3	UTSW	5	50,118,479 (GRCm39)	missense	probably benign	0.00
R1703:Adgra3	UTSW	5	50,164,117 (GRCm39)	missense	probably benign	0.00
R1782:Adgra3	UTSW	5	50,129,404 (GRCm39)	missense	probably benign	0.02
R1843:Adgra3	UTSW	5	50,118,834 (GRCm39)	missense	probably damaging	1.00
R2157:Adgra3	UTSW	5	50,159,283 (GRCm39)	missense	possibly damaging	0.87
R2281:Adgra3	UTSW	5	50,159,222 (GRCm39)	missense	probably benign	0.04
R2385:Adgra3	UTSW	5	50,136,908 (GRCm39)	missense	possibly damaging	0.95
R2426:Adgra3	UTSW	5	50,166,791 (GRCm39)	missense	possibly damaging	0.61
R3084:Adgra3	UTSW	5	50,170,733 (GRCm39)	critical splice donor site	probably null
R3086:Adgra3	UTSW	5	50,170,733 (GRCm39)	critical splice donor site	probably null
R3409:Adgra3	UTSW	5	50,159,272 (GRCm39)	missense	probably damaging	1.00
R3410:Adgra3	UTSW	5	50,159,272 (GRCm39)	missense	probably damaging	1.00
R3411:Adgra3	UTSW	5	50,159,272 (GRCm39)	missense	probably damaging	1.00
R4301:Adgra3	UTSW	5	50,118,420 (GRCm39)	missense	possibly damaging	0.94
R4360:Adgra3	UTSW	5	50,147,552 (GRCm39)	missense	possibly damaging	0.92
R4569:Adgra3	UTSW	5	50,117,905 (GRCm39)	missense	probably damaging	1.00
R4607:Adgra3	UTSW	5	50,128,081 (GRCm39)	missense	probably damaging	0.98
R4667:Adgra3	UTSW	5	50,136,298 (GRCm39)	missense	possibly damaging	0.94
R4671:Adgra3	UTSW	5	50,136,710 (GRCm39)	missense	probably damaging	1.00
R4886:Adgra3	UTSW	5	50,156,537 (GRCm39)	missense	probably benign	0.07
R5197:Adgra3	UTSW	5	50,118,096 (GRCm39)	missense	probably benign	0.01
R5208:Adgra3	UTSW	5	50,168,857 (GRCm39)	missense	probably damaging	0.99
R5313:Adgra3	UTSW	5	50,118,651 (GRCm39)	missense	probably benign	0.24
R5435:Adgra3	UTSW	5	50,147,468 (GRCm39)	missense	probably damaging	0.99
R5663:Adgra3	UTSW	5	50,156,627 (GRCm39)	missense	probably benign	0.14
R6038:Adgra3	UTSW	5	50,156,487 (GRCm39)	nonsense	probably null
R6038:Adgra3	UTSW	5	50,156,487 (GRCm39)	nonsense	probably null
R6064:Adgra3	UTSW	5	50,117,667 (GRCm39)	missense	probably damaging	0.97
R6259:Adgra3	UTSW	5	50,156,483 (GRCm39)	missense	possibly damaging	0.63
R6272:Adgra3	UTSW	5	50,166,791 (GRCm39)	missense	possibly damaging	0.61
R6293:Adgra3	UTSW	5	50,118,189 (GRCm39)	missense	probably benign	0.21
R6296:Adgra3	UTSW	5	50,118,189 (GRCm39)	missense	probably benign	0.21
R6297:Adgra3	UTSW	5	50,118,189 (GRCm39)	missense	probably benign	0.21
R6352:Adgra3	UTSW	5	50,147,592 (GRCm39)	missense	probably benign	0.01
R6352:Adgra3	UTSW	5	50,136,478 (GRCm39)	missense	probably benign
R6989:Adgra3	UTSW	5	50,164,226 (GRCm39)	missense	probably damaging	1.00
R7026:Adgra3	UTSW	5	50,118,083 (GRCm39)	missense	probably benign
R7147:Adgra3	UTSW	5	50,118,587 (GRCm39)	missense	probably damaging	1.00
R7206:Adgra3	UTSW	5	50,164,238 (GRCm39)	missense	probably damaging	1.00
R7381:Adgra3	UTSW	5	50,216,116 (GRCm39)	start codon destroyed	probably null
R7508:Adgra3	UTSW	5	50,174,209 (GRCm39)	missense	probably benign	0.10
R7538:Adgra3	UTSW	5	50,118,792 (GRCm39)	missense	probably benign	0.01
R7579:Adgra3	UTSW	5	50,144,977 (GRCm39)	missense	probably benign
R7951:Adgra3	UTSW	5	50,121,126 (GRCm39)	missense	probably damaging	1.00
R8269:Adgra3	UTSW	5	50,121,079 (GRCm39)	missense	probably damaging	0.98
R8458:Adgra3	UTSW	5	50,145,013 (GRCm39)	missense	probably damaging	0.99
R8486:Adgra3	UTSW	5	50,147,621 (GRCm39)	missense	probably damaging	0.98
R8912:Adgra3	UTSW	5	50,118,273 (GRCm39)	missense	possibly damaging	0.61
R8955:Adgra3	UTSW	5	50,118,731 (GRCm39)	missense	probably benign	0.05
R9108:Adgra3	UTSW	5	50,136,295 (GRCm39)	missense	probably damaging	1.00
R9112:Adgra3	UTSW	5	50,118,395 (GRCm39)	missense	probably damaging	1.00
R9191:Adgra3	UTSW	5	50,145,006 (GRCm39)	missense	possibly damaging	0.88
R9267:Adgra3	UTSW	5	50,155,618 (GRCm39)	missense	possibly damaging	0.87
R9312:Adgra3	UTSW	5	50,117,900 (GRCm39)	missense	probably damaging	1.00
R9537:Adgra3	UTSW	5	50,118,207 (GRCm39)	missense	possibly damaging	0.82
R9614:Adgra3	UTSW	5	50,164,250 (GRCm39)	missense	probably damaging	1.00
RF005:Adgra3	UTSW	5	50,170,729 (GRCm39)	splice site	probably null
RF024:Adgra3	UTSW	5	50,170,729 (GRCm39)	splice site	probably null
RF036:Adgra3	UTSW	5	50,215,983 (GRCm39)	small deletion	probably benign
X0065:Adgra3	UTSW	5	50,129,304 (GRCm39)	missense	probably benign
Z1187:Adgra3	UTSW	5	50,136,421 (GRCm39)	missense	probably damaging	1.00
Z1192:Adgra3	UTSW	5	50,156,623 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGGAAAAGTTCAAGCATCTTTGG -3'
(R):5'- TATCTTCAGGGTCCCAGTCGTG -3'

Sequencing Primer
(F):5'- CACACACTCAGAGTTTTTGG -3'
(R):5'- GCTGTCATGTTCAGACGA -3'

Posted On

2015-07-21