Mutagenetix > Incidental Mutation

Incidental Mutation 'R3410:Adgra3'

258453

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

040628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50117293-50216338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50159272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 326 (V326A)

Ref Sequence

ENSEMBL: ENSMUSP00000030971 (fasta)

Gene Model

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

AlphaFold

Q7TT36

Predicted Effect

probably damaging
Transcript: ENSMUST00000030971
AA Change: V326A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: V326A

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: ENSMUST00000196229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198818

Meta Mutation Damage Score

0.2362

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	T	C	8: 120,342,708 (GRCm39)	V418A	probably benign	Het
Adamts16	T	C	13: 70,901,345 (GRCm39)	T911A	probably benign	Het
Adgra1	T	C	7: 139,427,619 (GRCm39)	F62S	possibly damaging	Het
Adgrg6	A	G	10: 14,316,114 (GRCm39)	F569S	probably benign	Het
Alcam	T	C	16: 52,130,261 (GRCm39)	T30A	probably null	Het
Arnt2	G	A	7: 83,924,655 (GRCm39)	R391W	probably damaging	Het
Ascc3	T	C	10: 50,576,196 (GRCm39)	V817A	probably damaging	Het
Atp13a4	G	T	16: 29,232,567 (GRCm39)	T923K	probably damaging	Het
Atp5po	C	T	16: 91,725,794 (GRCm39)	R64H	probably damaging	Het
Ccdc185	T	G	1: 182,576,313 (GRCm39)	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Cct2	T	C	10: 116,897,968 (GRCm39)	N73S	probably benign	Het
Clock	G	A	5: 76,377,401 (GRCm39)	Q633*	probably null	Het
Col6a2	T	C	10: 76,439,193 (GRCm39)	I826V	probably benign	Het
Cpsf1	G	T	15: 76,485,981 (GRCm39)	Y396*	probably null	Het
Dnah1	A	T	14: 30,991,774 (GRCm39)	M3076K	possibly damaging	Het
Dxo	A	G	17: 35,057,825 (GRCm39)	N177D	probably damaging	Het
Fbxw28	A	T	9: 109,167,472 (GRCm39)	V95E	possibly damaging	Het
Galnt6	T	C	15: 100,597,018 (GRCm39)	N383D	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Grik5	T	C	7: 24,762,397 (GRCm39)	D198G	probably benign	Het
Gsdmc4	A	G	15: 63,763,895 (GRCm39)	S401P	probably benign	Het
Gspt1	A	T	16: 11,047,109 (GRCm39)	D435E	probably damaging	Het
Hsf2	T	C	10: 57,381,378 (GRCm39)	S266P	probably damaging	Het
Jade2	T	C	11: 51,708,050 (GRCm39)	D721G	probably benign	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Klra17	T	A	6: 129,851,809 (GRCm39)	N21I	probably damaging	Het
L3mbtl3	T	C	10: 26,215,197 (GRCm39)	N196S	unknown	Het
Lama3	G	C	18: 12,546,915 (GRCm39)		probably null	Het
Mcm5	T	C	8: 75,848,272 (GRCm39)	M507T	possibly damaging	Het
Mycbp2	T	C	14: 103,372,553 (GRCm39)	R814G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,456 (GRCm39)	E186G	probably damaging	Het
Nlrp4c	A	G	7: 6,095,569 (GRCm39)	K816E	possibly damaging	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Nudcd1	T	C	15: 44,284,207 (GRCm39)	M60V	probably benign	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5p63	G	A	7: 107,811,490 (GRCm39)	P82L	possibly damaging	Het
Or5p69	A	T	7: 107,967,551 (GRCm39)	I285F	possibly damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Ovol2	A	G	2: 144,159,796 (GRCm39)	S82P	probably benign	Het
Ppl	T	C	16: 4,925,381 (GRCm39)	E86G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Scml4	A	G	10: 42,833,667 (GRCm39)	Y327C	probably damaging	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Sltm	T	G	9: 70,493,240 (GRCm39)	L728V	probably damaging	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Sycp1	T	C	3: 102,748,357 (GRCm39)	K812E	possibly damaging	Het
Tenm4	T	C	7: 96,501,737 (GRCm39)	Y1314H	probably damaging	Het
Tmem67	A	T	4: 12,073,952 (GRCm39)	M288K	probably benign	Het
Toporsl	T	C	4: 52,610,970 (GRCm39)	S288P	probably benign	Het
Ttn	A	C	2: 76,772,749 (GRCm39)	N2415K	possibly damaging	Het
Vmn2r65	T	C	7: 84,595,896 (GRCm39)	I263V	probably benign	Het
Vmn2r89	A	T	14: 51,693,628 (GRCm39)	E326V	probably damaging	Het
Wdr81	A	G	11: 75,343,758 (GRCm39)	I503T	probably 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
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
R4475:Adgra3	UTSW	5	50,159,240 (GRCm39)	missense	probably damaging	1.00
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'- GCGGAAAAGTTCAAGCATCTTTGG -3'
(R):5'- TATCTTCAGGGTCCCAGTCG -3'

Sequencing Primer
(F):5'- ACAAAGGATAGTTCTTAGACAt -3'
(R):5'- TGCAGTGCCCTAACCATT -3'

Posted On

2015-01-23