Mutagenetix > Incidental Mutation

Incidental Mutation 'R4376:Adgrg6'

325104

Institutional Source

Beutler Lab

Gene Symbol

Adgrg6

Ensembl Gene

ENSMUSG00000039116

Gene Name

adhesion G protein-coupled receptor G6

Synonyms

1190004A11Rik, DREG, LOC215798, Gpr126

MMRRC Submission

041120-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4376 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14278327-14421403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14314238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 683 (S683P)

Ref Sequence

ENSEMBL: ENSMUSP00000146821 (fasta)

Gene Model

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

AlphaFold

Q6F3F9

Predicted Effect

probably benign
Transcript: ENSMUST00000041168
AA Change: S655P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: S655P

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 benign
Transcript: ENSMUST00000208429
AA Change: S683P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10d	T	C	5: 72,454,318 (GRCm39)	L189P	probably damaging	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Eaf2	A	G	16: 36,620,998 (GRCm39)	L184P	unknown	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam83e	A	T	7: 45,373,317 (GRCm39)	S228C	probably damaging	Het
Gon4l	C	A	3: 88,814,694 (GRCm39)	P1888T	probably benign	Het
Kit	T	C	5: 75,801,159 (GRCm39)	I515T	probably benign	Het
Kmt2c	C	T	5: 25,520,324 (GRCm39)	V1929I	probably benign	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Mlh3	C	A	12: 85,305,972 (GRCm39)	R1175L	probably benign	Het
Mrps2	T	C	2: 28,358,871 (GRCm39)	S67P	probably benign	Het
Nlrp12	A	G	7: 3,289,576 (GRCm39)	L312P	possibly damaging	Het
Or13f5	A	T	4: 52,826,195 (GRCm39)	N266I	possibly damaging	Het
Or4c122	T	C	2: 89,079,589 (GRCm39)	R150G	possibly damaging	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	Het
Pank1	C	T	19: 34,855,104 (GRCm39)	V4I	probably benign	Het
Pdia4	G	A	6: 47,775,326 (GRCm39)	R495W	probably damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Plce1	T	C	19: 38,693,891 (GRCm39)		probably null	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prcc	A	G	3: 87,774,714 (GRCm39)	Y363H	probably damaging	Het
Rictor	T	C	15: 6,816,448 (GRCm39)	V1240A	probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Steep1	C	A	X: 36,087,812 (GRCm39)	C206F	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsnaxip1	C	A	8: 106,568,433 (GRCm39)	C372*	probably null	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTCAAGACTTCCTGGAGG -3'
(R):5'- CTGTATGCACTAAGATCCAAGAAC -3'

Sequencing Primer
(F):5'- GTCAAGACTTCCTGGAGGTATCC -3'
(R):5'- GCACTAAGATCCAAGAACATAAAAAC -3'

Posted On

2015-07-06