Mutagenetix > Incidental Mutation

Incidental Mutation 'R0920:Adgra3'

82812

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

039070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0920 (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 50118503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1015 (V1015A)

Ref Sequence

ENSEMBL: ENSMUSP00000030971 (fasta)

Gene Model

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

AlphaFold

Q7TT36

Predicted Effect

probably benign
Transcript: ENSMUST00000030971
AA Change: V1015A

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: V1015A

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: ENSMUST00000196177

Meta Mutation Damage Score

0.3524

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (37/37)

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
Aadacl4fm2	T	C	4: 144,287,696 (GRCm39)		probably benign	Het
Adamts16	A	G	13: 70,911,680 (GRCm39)		probably benign	Het
Armc5	G	T	7: 127,839,491 (GRCm39)	A270S	probably damaging	Het
Cacng1	A	C	11: 107,596,682 (GRCm39)		probably benign	Het
Ccdc33	T	C	9: 57,940,955 (GRCm39)	D429G	probably damaging	Het
Ccdc88b	G	T	19: 6,824,017 (GRCm39)	A1412E	probably benign	Het
Cfap298	C	T	16: 90,724,267 (GRCm39)	E125K	probably damaging	Het
Clock	A	T	5: 76,378,167 (GRCm39)	S578T	possibly damaging	Het
Crp	T	C	1: 172,526,089 (GRCm39)	F58S	probably damaging	Het
Dlg5	T	A	14: 24,226,465 (GRCm39)	Q125L	probably damaging	Het
Eif3i	T	C	4: 129,489,050 (GRCm39)		probably benign	Het
Gucy1a2	A	C	9: 3,759,472 (GRCm39)	D426A	probably damaging	Het
Hpcal1	C	T	12: 17,841,098 (GRCm39)		probably benign	Het
Inf2	T	A	12: 112,576,721 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,128,256 (GRCm39)	L525P	probably damaging	Het
Kirrel3	A	T	9: 34,939,648 (GRCm39)	I152F	probably damaging	Het
Knl1	T	A	2: 118,900,309 (GRCm39)	I670K	probably benign	Het
Krt76	T	C	15: 101,800,874 (GRCm39)	T141A	possibly damaging	Het
Ldb3	T	C	14: 34,289,460 (GRCm39)	T249A	probably benign	Het
Magi3	A	T	3: 103,941,507 (GRCm39)		probably null	Het
Mfn1	A	G	3: 32,588,385 (GRCm39)		probably null	Het
Myb	G	T	10: 21,002,133 (GRCm39)	T736K	possibly damaging	Het
Myo5b	A	C	18: 74,758,712 (GRCm39)	K231T	probably benign	Het
Myt1l	T	A	12: 29,936,138 (GRCm39)	C909S	unknown	Het
Npas4	C	A	19: 5,036,344 (GRCm39)	E607*	probably null	Het
Nphp3	A	G	9: 103,909,106 (GRCm39)	N772S	probably benign	Het
Nup88	G	T	11: 70,847,146 (GRCm39)	P288Q	possibly damaging	Het
Or2l13	A	T	16: 19,305,680 (GRCm39)	I31F	probably benign	Het
Pknox1	C	A	17: 31,815,865 (GRCm39)	Q240K	probably damaging	Het
Plce1	A	C	19: 38,724,965 (GRCm39)	T1439P	probably damaging	Het
Ppp1r42	T	A	1: 10,069,750 (GRCm39)	N104I	probably damaging	Het
Prkar2a	T	A	9: 108,596,496 (GRCm39)		probably benign	Het
Stox2	C	T	8: 47,646,053 (GRCm39)	R469Q	probably damaging	Het
Syna	A	G	5: 134,587,956 (GRCm39)	V331A	probably benign	Het
Vmn1r58	A	T	7: 5,413,788 (GRCm39)	N147K	probably benign	Het
Zdhhc6	A	T	19: 55,300,133 (GRCm39)	L148H	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
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
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'- TGGCATTCACAGGTAGGGCATTG -3'
(R):5'- AGACACCCTGAGCGCAAATATGAG -3'

Sequencing Primer
(F):5'- AAGTTTGTCAGCTTGCAGCC -3'
(R):5'- TTGGCAGCCAATGAAAATGGTG -3'

Posted On

2013-11-08