Mutagenetix > Incidental Mutation

Incidental Mutation 'R9312:Adgra3'

705643

Institutional Source

Beutler Lab

Gene Symbol

Adgra3

Ensembl Gene

ENSMUSG00000029090

Gene Name

adhesion G protein-coupled receptor A3

Synonyms

Tem5-like, 3830613O22Rik, Gpr125

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50117293-50216338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50117900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1216 (Y1216C)

Ref Sequence

ENSEMBL: ENSMUSP00000030971 (fasta)

Gene Model

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

AlphaFold

Q7TT36

Predicted Effect

probably damaging
Transcript: ENSMUST00000030971
AA Change: Y1216C

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

SMART Domains

Protein: ENSMUSP00000030971
Gene: ENSMUSG00000029090
AA Change: Y1216C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	A	G	7: 139,565,791 (GRCm39)	L607P	probably damaging	Het
Adamts16	T	A	13: 70,949,045 (GRCm39)	R205S	probably damaging	Het
Arl3	A	G	19: 46,531,964 (GRCm39)	V91A	probably damaging	Het
Bckdhb	A	T	9: 83,870,833 (GRCm39)	K114N	probably benign	Het
Cabin1	A	T	10: 75,561,569 (GRCm39)	D150E	probably benign	Het
Cadps	G	A	14: 12,616,095 (GRCm38)	R312C	probably damaging	Het
Cep120	A	G	18: 53,860,713 (GRCm39)	I239T	probably benign	Het
Clec4g	T	A	8: 3,768,371 (GRCm39)	E120V	probably null	Het
Col18a1	T	C	10: 76,894,606 (GRCm39)	E1022G	probably damaging	Het
Cyfip2	A	G	11: 46,167,709 (GRCm39)	I231T	possibly damaging	Het
Dcaf17	T	C	2: 70,908,458 (GRCm39)	Y228H	probably benign	Het
Ddx41	T	A	13: 55,683,842 (GRCm39)	Q52L	probably benign	Het
Dync2h1	T	C	9: 7,050,413 (GRCm39)	Y3212C	probably damaging	Het
Etv4	A	G	11: 101,664,923 (GRCm39)	Y177H	probably benign	Het
Fer1l5	A	G	1: 36,460,248 (GRCm39)	E1910G	probably damaging	Het
Fgf11	G	T	11: 69,689,412 (GRCm39)	H195Q	probably damaging	Het
Gatb	A	G	3: 85,561,070 (GRCm39)	K529E	probably damaging	Het
Gfus	T	C	15: 75,797,169 (GRCm39)	Y292C	possibly damaging	Het
Gsdmc	C	A	15: 63,649,806 (GRCm39)	A362S	probably damaging	Het
Gucy1b1	A	T	3: 81,942,123 (GRCm39)	N545K	probably damaging	Het
Heatr1	A	G	13: 12,446,565 (GRCm39)	H1638R	probably benign	Het
Hecw1	T	G	13: 14,546,567 (GRCm39)	I145L	probably damaging	Het
Hmmr	A	G	11: 40,614,316 (GRCm39)	V124A	possibly damaging	Het
Il31ra	C	T	13: 112,686,023 (GRCm39)	V89I	probably benign	Het
Kcnmb3	A	T	3: 32,536,575 (GRCm39)	M51K	probably benign	Het
Lamb1	C	T	12: 31,368,352 (GRCm39)	R1209C	probably damaging	Het
Lcn6	G	T	2: 25,570,074 (GRCm39)	G80V	probably benign	Het
Lgsn	A	G	1: 31,243,280 (GRCm39)	E454G	probably benign	Het
Loxhd1	G	A	18: 77,498,285 (GRCm39)	M1624I	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mapk8ip3	T	C	17: 25,146,925 (GRCm39)		probably null	Het
Mlip	A	G	9: 77,147,060 (GRCm39)	Y26H	probably damaging	Het
Nipsnap1	A	C	11: 4,839,902 (GRCm39)	I208L	possibly damaging	Het
Nusap1	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	2: 119,458,119 (GRCm39)		probably benign	Het
Or5m11	T	A	2: 85,781,509 (GRCm39)	V34D	possibly damaging	Het
Pigr	C	T	1: 130,762,185 (GRCm39)	T7M	probably benign	Het
Pigu	T	C	2: 155,199,315 (GRCm39)	M1V	probably null	Het
Pkd1	T	A	17: 24,797,364 (GRCm39)	I2568N	probably damaging	Het
Psmd4	A	T	3: 94,940,729 (GRCm39)	S345T	probably benign	Het
Rab3gap2	A	T	1: 185,015,684 (GRCm39)	M1321L	probably benign	Het
Rnf157	A	G	11: 116,240,158 (GRCm39)		probably null	Het
Sart3	C	T	5: 113,900,935 (GRCm39)	E168K	possibly damaging	Het
Scnn1g	A	G	7: 121,339,818 (GRCm39)	K206E	probably benign	Het
Smg6	A	C	11: 74,820,877 (GRCm39)	S383R	probably benign	Het
Smurf1	G	T	5: 144,830,893 (GRCm39)	P294H	probably damaging	Het
Sspo	A	T	6: 48,445,396 (GRCm39)	H2279L	probably benign	Het
Tacc2	A	T	7: 130,223,978 (GRCm39)	D221V	probably benign	Het
Tgm6	T	A	2: 129,977,701 (GRCm39)	H13Q	probably benign	Het
Tnfaip8l2	T	C	3: 95,047,767 (GRCm39)	D32G	probably damaging	Het
Tppp	A	G	13: 74,179,377 (GRCm39)	D167G	probably damaging	Het
Trak1	A	G	9: 121,280,757 (GRCm39)	E382G	probably benign	Het
Trdv2-1	C	T	14: 54,183,570 (GRCm39)	T14I	probably benign	Het
Ubr3	A	T	2: 69,784,677 (GRCm39)	D799V	probably damaging	Het
Usp28	T	A	9: 48,926,439 (GRCm39)	Y317*	probably null	Het
Vmn1r225	C	T	17: 20,722,960 (GRCm39)	L134F	probably benign	Het
Vmn2r86	A	G	10: 130,288,406 (GRCm39)	I365T	probably benign	Het
Wfikkn2	A	G	11: 94,129,497 (GRCm39)	S215P	probably damaging	Het
Xrcc2	A	G	5: 25,897,124 (GRCm39)	V275A	probably damaging	Het
Zfp423	T	A	8: 88,508,569 (GRCm39)	I592F	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
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
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'- CTGGTCCATTCTGAACAGCC -3'
(R):5'- TAGACGTGCAGTTTCGAACAAAC -3'

Sequencing Primer
(F):5'- GCCAAGTTCAGGCCGTAAGATTTC -3'
(R):5'- GTTTCGAACAAACGTGCACC -3'

Posted On

2022-03-25