Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02037:Adgrg6'

184566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgrg6

Ensembl Gene

ENSMUSG00000039116

Gene Name

adhesion G protein-coupled receptor G6

Synonyms

1190004A11Rik, DREG, LOC215798, Gpr126

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02037

Quality Score

Status

Chromosome

Chromosomal Location

14278327-14421403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14317185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 545 (Y545C)

Ref Sequence

ENSEMBL: ENSMUSP00000146821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041168] [ENSMUST00000208429]

AlphaFold

Q6F3F9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041168
AA Change: Y517C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: Y517C

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
CUB	41	149	8.59e-33	SMART
low complexity region	609	620	N/A	INTRINSIC
low complexity region	695	706	N/A	INTRINSIC
GPS	769	822	2.48e-12	SMART
Pfam:7tm_2	831	1080	4.1e-52	PFAM
low complexity region	1122	1154	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000208429
AA Change: Y545C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null mutation die during organogenesis and display signs of circulatory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	A	6: 92,804,997 (GRCm39)		probably benign	Het
Ace2	T	A	X: 162,946,996 (GRCm39)	V293D	probably damaging	Het
Arhgap40	A	G	2: 158,376,742 (GRCm39)	T293A	probably damaging	Het
Arhgef19	A	G	4: 140,973,707 (GRCm39)	T65A	probably damaging	Het
Brf1	A	G	12: 112,956,682 (GRCm39)		probably null	Het
Cbfb	T	C	8: 105,905,252 (GRCm39)	S65P	possibly damaging	Het
Chsy1	T	C	7: 65,821,576 (GRCm39)	S604P	possibly damaging	Het
Ckmt1	T	C	2: 121,191,643 (GRCm39)	V271A	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd2	T	C	4: 128,371,263 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,038,559 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,007 (GRCm39)	T492A	probably benign	Het
Fam3a	G	A	X: 73,430,241 (GRCm39)	T156I	probably damaging	Het
Fbn2	A	T	18: 58,229,087 (GRCm39)	C708S	probably damaging	Het
Fgf5	G	A	5: 98,409,831 (GRCm39)	G127R	probably damaging	Het
Fhip1a	T	G	3: 85,637,939 (GRCm39)	K120T	probably damaging	Het
Fn3k	A	T	11: 121,325,909 (GRCm39)	Y32F	probably benign	Het
Frem3	T	C	8: 81,338,118 (GRCm39)	I137T	probably benign	Het
Hc	T	C	2: 34,903,531 (GRCm39)	D1041G	probably benign	Het
Heatr6	T	A	11: 83,655,708 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,309,553 (GRCm39)	A598T	probably benign	Het
Ifngr1	T	C	10: 19,483,007 (GRCm39)	S254P	probably benign	Het
Kel	T	C	6: 41,674,408 (GRCm39)	S341G	probably benign	Het
Klra6	A	C	6: 129,990,439 (GRCm39)	M224R	probably benign	Het
Mis18bp1	A	G	12: 65,183,522 (GRCm39)		probably null	Het
Mpeg1	C	T	19: 12,440,660 (GRCm39)	T706I	probably benign	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Or5al7	G	T	2: 85,993,181 (GRCm39)	F37L	probably benign	Het
Palld	T	C	8: 61,978,148 (GRCm39)	R881G	probably damaging	Het
Pdha2	A	T	3: 140,916,662 (GRCm39)	V282E	probably damaging	Het
Pga5	C	T	19: 10,654,065 (GRCm39)	R46Q	probably benign	Het
Plekhg2	T	C	7: 28,068,122 (GRCm39)	Y189C	probably damaging	Het
Rnf43	A	G	11: 87,622,479 (GRCm39)	T527A	probably benign	Het
Rplp0	G	A	5: 115,699,174 (GRCm39)	R73Q	probably benign	Het
Smco3	A	G	6: 136,808,197 (GRCm39)	*226R	probably null	Het
Sugp2	T	C	8: 70,712,324 (GRCm39)		probably benign	Het
Tsga10	T	C	1: 37,846,098 (GRCm39)	I343V	probably benign	Het
Ube2q2	A	G	9: 55,075,502 (GRCm39)	K104E	probably damaging	Het
Ube3a	C	T	7: 58,925,506 (GRCm39)		probably benign	Het
Usp11	T	C	X: 20,585,381 (GRCm39)	I785T	probably damaging	Het
Vmn2r22	A	T	6: 123,626,026 (GRCm39)	C137S	probably damaging	Het
Zfp281	T	C	1: 136,555,185 (GRCm39)	V721A	possibly damaging	Het
Zfp946	T	C	17: 22,672,469 (GRCm39)	S23P	probably damaging	Het
Zfyve1	A	G	12: 83,594,694 (GRCm39)	V766A	probably damaging	Het

Other mutations in Adgrg6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Adgrg6	APN	10	14,343,194 (GRCm39)	missense	probably damaging	0.99
IGL00428:Adgrg6	APN	10	14,343,119 (GRCm39)	missense	probably benign
IGL00489:Adgrg6	APN	10	14,316,147 (GRCm39)	splice site	probably null
IGL00496:Adgrg6	APN	10	14,326,322 (GRCm39)	critical splice donor site	probably null
IGL00743:Adgrg6	APN	10	14,411,703 (GRCm39)	splice site	probably benign
IGL01011:Adgrg6	APN	10	14,285,542 (GRCm39)	missense	probably damaging	0.96
IGL01291:Adgrg6	APN	10	14,286,274 (GRCm39)	missense	possibly damaging	0.92
IGL01453:Adgrg6	APN	10	14,296,202 (GRCm39)	missense	possibly damaging	0.94
IGL01594:Adgrg6	APN	10	14,310,084 (GRCm39)	missense	probably damaging	1.00
IGL02013:Adgrg6	APN	10	14,302,555 (GRCm39)	missense	probably damaging	0.98
IGL02070:Adgrg6	APN	10	14,343,336 (GRCm39)	missense	probably damaging	1.00
IGL02164:Adgrg6	APN	10	14,399,299 (GRCm39)	intron	probably benign
IGL02262:Adgrg6	APN	10	14,317,140 (GRCm39)	missense	probably benign	0.00
IGL02272:Adgrg6	APN	10	14,344,573 (GRCm39)	missense	probably damaging	1.00
IGL02605:Adgrg6	APN	10	14,342,976 (GRCm39)	missense	probably damaging	1.00
IGL02800:Adgrg6	APN	10	14,296,349 (GRCm39)	missense	probably damaging	1.00
IGL03175:Adgrg6	APN	10	14,315,502 (GRCm39)	missense	probably benign	0.04
ANU05:Adgrg6	UTSW	10	14,286,274 (GRCm39)	missense	possibly damaging	0.92
R0245:Adgrg6	UTSW	10	14,333,810 (GRCm39)	splice site	probably benign
R0356:Adgrg6	UTSW	10	14,302,642 (GRCm39)	missense	possibly damaging	0.47
R0388:Adgrg6	UTSW	10	14,326,402 (GRCm39)	missense	probably benign	0.00
R0508:Adgrg6	UTSW	10	14,326,360 (GRCm39)	missense	probably benign	0.32
R0626:Adgrg6	UTSW	10	14,312,628 (GRCm39)	missense	probably damaging	1.00
R1116:Adgrg6	UTSW	10	14,314,172 (GRCm39)	missense	probably benign	0.00
R1205:Adgrg6	UTSW	10	14,310,083 (GRCm39)	missense	probably damaging	1.00
R1438:Adgrg6	UTSW	10	14,344,585 (GRCm39)	missense	possibly damaging	0.68
R1599:Adgrg6	UTSW	10	14,343,057 (GRCm39)	nonsense	probably null
R1714:Adgrg6	UTSW	10	14,315,514 (GRCm39)	missense	possibly damaging	0.64
R1728:Adgrg6	UTSW	10	14,315,526 (GRCm39)	missense	probably damaging	1.00
R1729:Adgrg6	UTSW	10	14,315,526 (GRCm39)	missense	probably damaging	1.00
R1784:Adgrg6	UTSW	10	14,315,526 (GRCm39)	missense	probably damaging	1.00
R2124:Adgrg6	UTSW	10	14,342,930 (GRCm39)	missense	probably damaging	0.98
R2906:Adgrg6	UTSW	10	14,308,694 (GRCm39)	missense	probably benign	0.03
R3410:Adgrg6	UTSW	10	14,316,114 (GRCm39)	missense	probably benign	0.10
R3982:Adgrg6	UTSW	10	14,324,589 (GRCm39)	missense	probably benign	0.10
R4376:Adgrg6	UTSW	10	14,344,794 (GRCm39)	missense	probably damaging	1.00
R4376:Adgrg6	UTSW	10	14,314,238 (GRCm39)	missense	probably benign	0.02
R4445:Adgrg6	UTSW	10	14,285,507 (GRCm39)	missense	probably damaging	1.00
R4446:Adgrg6	UTSW	10	14,285,507 (GRCm39)	missense	probably damaging	1.00
R4472:Adgrg6	UTSW	10	14,312,525 (GRCm39)	missense	probably damaging	1.00
R4622:Adgrg6	UTSW	10	14,317,243 (GRCm39)	missense	probably damaging	1.00
R4623:Adgrg6	UTSW	10	14,317,243 (GRCm39)	missense	probably damaging	1.00
R4649:Adgrg6	UTSW	10	14,344,571 (GRCm39)	missense	probably damaging	1.00
R4882:Adgrg6	UTSW	10	14,310,081 (GRCm39)	missense	possibly damaging	0.88
R4978:Adgrg6	UTSW	10	14,296,205 (GRCm39)	missense	probably damaging	1.00
R5246:Adgrg6	UTSW	10	14,302,509 (GRCm39)	missense	probably damaging	1.00
R5420:Adgrg6	UTSW	10	14,302,730 (GRCm39)	nonsense	probably null
R5461:Adgrg6	UTSW	10	14,296,248 (GRCm39)	missense	probably damaging	1.00
R5580:Adgrg6	UTSW	10	14,286,228 (GRCm39)	nonsense	probably null
R5644:Adgrg6	UTSW	10	14,308,678 (GRCm39)	missense	probably damaging	1.00
R5847:Adgrg6	UTSW	10	14,302,521 (GRCm39)	missense	probably damaging	1.00
R5900:Adgrg6	UTSW	10	14,314,163 (GRCm39)	critical splice donor site	probably null
R6302:Adgrg6	UTSW	10	14,317,227 (GRCm39)	missense	probably benign	0.22
R6318:Adgrg6	UTSW	10	14,343,241 (GRCm39)	missense	probably benign
R6319:Adgrg6	UTSW	10	14,307,366 (GRCm39)	missense	probably damaging	1.00
R6339:Adgrg6	UTSW	10	14,310,091 (GRCm39)	missense	probably damaging	1.00
R6683:Adgrg6	UTSW	10	14,331,911 (GRCm39)	missense	probably damaging	0.97
R6983:Adgrg6	UTSW	10	14,307,439 (GRCm39)	missense	probably damaging	1.00
R7337:Adgrg6	UTSW	10	14,343,095 (GRCm39)	missense	possibly damaging	0.82
R7378:Adgrg6	UTSW	10	14,411,636 (GRCm39)	missense	probably benign	0.16
R7463:Adgrg6	UTSW	10	14,310,140 (GRCm39)	missense	possibly damaging	0.82
R7470:Adgrg6	UTSW	10	14,319,810 (GRCm39)	missense	probably benign
R7558:Adgrg6	UTSW	10	14,307,351 (GRCm39)	missense	probably damaging	1.00
R7593:Adgrg6	UTSW	10	14,344,573 (GRCm39)	missense	probably damaging	1.00
R7747:Adgrg6	UTSW	10	14,326,321 (GRCm39)	critical splice donor site	probably null
R7768:Adgrg6	UTSW	10	14,307,410 (GRCm39)	missense	probably benign	0.00
R7962:Adgrg6	UTSW	10	14,296,428 (GRCm39)	missense	probably damaging	1.00
R8049:Adgrg6	UTSW	10	14,303,943 (GRCm39)	missense	probably benign	0.00
R8059:Adgrg6	UTSW	10	14,344,794 (GRCm39)	missense	probably damaging	0.99
R8373:Adgrg6	UTSW	10	14,343,078 (GRCm39)	missense	probably benign	0.03
R8406:Adgrg6	UTSW	10	14,343,082 (GRCm39)	missense	probably benign	0.05
R8722:Adgrg6	UTSW	10	14,296,188 (GRCm39)	missense	probably benign	0.35
R9046:Adgrg6	UTSW	10	14,323,858 (GRCm39)	missense	probably benign
R9422:Adgrg6	UTSW	10	14,302,740 (GRCm39)	missense	probably damaging	1.00
R9482:Adgrg6	UTSW	10	14,307,423 (GRCm39)	missense	probably benign	0.11
R9682:Adgrg6	UTSW	10	14,316,128 (GRCm39)	missense	possibly damaging	0.49
R9764:Adgrg6	UTSW	10	14,302,515 (GRCm39)	missense	probably benign	0.05
R9794:Adgrg6	UTSW	10	14,314,196 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07