Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00163:Adgrg6'

1261

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 #

IGL00163

Quality Score

Status

Chromosome

Chromosomal Location

14278327-14421403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14343194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 251 (E251G)

Ref Sequence

ENSEMBL: ENSMUSP00000146821 (fasta)

Gene Model

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

AlphaFold

Q6F3F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000041168
AA Change: E251G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: E251G

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: E251G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,786,310 (GRCm39)	Q103*	probably null	Het
4933406P04Rik	C	A	10: 20,186,970 (GRCm39)		probably benign	Het
Ago2	T	C	15: 72,998,302 (GRCm39)	H292R	probably benign	Het
Akr1c6	T	C	13: 4,498,977 (GRCm39)		probably benign	Het
Arhgap24	T	A	5: 103,008,265 (GRCm39)	M62K	possibly damaging	Het
Bicd1	A	G	6: 149,451,888 (GRCm39)	H834R	possibly damaging	Het
Ccdc77	G	T	6: 120,306,045 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,818,818 (GRCm39)	H337N	probably damaging	Het
Cep192	A	G	18: 68,013,871 (GRCm39)	T2424A	possibly damaging	Het
Cep78	T	C	19: 15,946,504 (GRCm39)	T443A	probably benign	Het
Chrna1	T	A	2: 73,400,986 (GRCm39)	E181D	probably benign	Het
Dmxl1	G	A	18: 49,984,534 (GRCm39)	D177N	probably damaging	Het
Eif3h	T	A	15: 51,650,195 (GRCm39)	I330F	probably damaging	Het
Fam184b	T	C	5: 45,697,091 (GRCm39)	E691G	probably benign	Het
Fastkd1	T	A	2: 69,537,893 (GRCm39)	S230C	probably benign	Het
Gipc2	T	C	3: 151,843,215 (GRCm39)	I141V	probably damaging	Het
Hsd17b2	A	T	8: 118,485,410 (GRCm39)	D291V	probably damaging	Het
Itpr2	G	A	6: 146,292,334 (GRCm39)	A420V	possibly damaging	Het
Jag1	C	T	2: 136,927,952 (GRCm39)		probably null	Het
Minar1	A	T	9: 89,473,150 (GRCm39)		probably benign	Het
Mmp1b	T	A	9: 7,387,946 (GRCm39)	Y16F	probably benign	Het
Muc4	G	T	16: 32,754,090 (GRCm38)	R1322M	probably benign	Het
Myo9b	T	C	8: 71,801,379 (GRCm39)	I1179T	probably benign	Het
Nos1ap	A	G	1: 170,342,175 (GRCm39)		probably benign	Het
Npc1l1	A	T	11: 6,174,199 (GRCm39)	V702E	probably damaging	Het
Or13d1	G	A	4: 52,971,058 (GRCm39)	V146M	possibly damaging	Het
Or1j21	A	G	2: 36,684,012 (GRCm39)	I255V	probably benign	Het
Or2ag17	T	A	7: 106,389,796 (GRCm39)	R137S	probably benign	Het
Or2y10	A	C	11: 49,454,747 (GRCm39)		probably benign	Het
Or4c31	A	T	2: 88,291,696 (GRCm39)	Y4F	probably benign	Het
Or4f7	A	C	2: 111,644,126 (GRCm39)		probably benign	Het
Osmr	A	T	15: 6,873,926 (GRCm39)	L157*	probably null	Het
Pdzph1	T	C	17: 59,281,791 (GRCm39)	T164A	possibly damaging	Het
Ptn	T	C	6: 36,720,424 (GRCm39)	K43E	probably benign	Het
Rbm45	T	C	2: 76,209,051 (GRCm39)	V340A	probably damaging	Het
Rnf5	C	T	17: 34,821,083 (GRCm39)	G83E	probably damaging	Het
Scin	G	T	12: 40,126,971 (GRCm39)	Q459K	probably benign	Het
Serpina5	C	A	12: 104,071,479 (GRCm39)	A362D	probably damaging	Het
Tex47	T	A	5: 7,355,468 (GRCm39)	Y216*	probably null	Het
Tll1	A	T	8: 64,469,170 (GRCm39)	H984Q	probably benign	Het
Tmem259	A	G	10: 79,815,568 (GRCm39)	V81A	probably benign	Het
Tns3	A	T	11: 8,401,066 (GRCm39)	S1077R	probably benign	Het
Trgv3	G	A	13: 19,427,381 (GRCm39)	S88N	probably benign	Het
Ttc17	A	G	2: 94,153,428 (GRCm39)		probably benign	Het
Tubgcp2	T	C	7: 139,610,935 (GRCm39)	T149A	possibly damaging	Het
Ulk1	G	A	5: 110,935,738 (GRCm39)	A25V	probably damaging	Het
Vps13d	T	C	4: 144,895,110 (GRCm39)	E378G	probably damaging	Het
Vsig10	A	G	5: 117,476,479 (GRCm39)	N311S	probably benign	Het
Zfp511	T	C	7: 139,617,429 (GRCm39)	Y144H	possibly damaging	Het

Other mutations in Adgrg6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02037:Adgrg6	APN	10	14,317,185 (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

2011-07-12