Mutagenetix > Incidental Mutation

Incidental Mutation 'R4446:Adgrg6'

329899

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

041707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4446 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14278327-14421403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14285507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1160 (S1160P)

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: S1132P

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

SMART Domains

Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: S1132P

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: S1160P

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

Meta Mutation Damage Score

0.1080

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

91% (43/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	T	A	1: 192,515,731 (GRCm39)		noncoding transcript	Het
Akt1	C	T	12: 112,625,567 (GRCm39)	R144H	probably benign	Het
Arrdc3	T	C	13: 81,037,182 (GRCm39)		probably benign	Het
Asxl2	T	A	12: 3,551,774 (GRCm39)	V1172E	possibly damaging	Het
Atp9a	C	T	2: 168,523,917 (GRCm39)	A242T	possibly damaging	Het
C2cd3	C	T	7: 100,023,684 (GRCm39)	T90I	probably damaging	Het
C4bp	A	G	1: 130,570,692 (GRCm39)	S295P	probably benign	Het
Cdkl2	G	A	5: 92,168,168 (GRCm39)	T342I	probably benign	Het
Cep131	T	C	11: 119,955,645 (GRCm39)	E1025G	probably damaging	Het
Crot	T	C	5: 9,023,643 (GRCm39)	H415R	probably damaging	Het
Cyp17a1	A	G	19: 46,656,462 (GRCm39)	F411L	probably damaging	Het
Dgkb	G	T	12: 38,234,952 (GRCm39)	G439V	probably damaging	Het
Dgkh	A	G	14: 78,865,523 (GRCm39)	V20A	probably damaging	Het
Dipk1a	T	C	5: 108,072,500 (GRCm39)	Y52C	probably damaging	Het
Dysf	A	G	6: 84,182,854 (GRCm39)	N2035S	probably damaging	Het
Fzd1	A	G	5: 4,805,777 (GRCm39)	Y602H	probably damaging	Het
Gm38706	C	A	6: 130,460,273 (GRCm39)		noncoding transcript	Het
Hmmr	T	C	11: 40,606,148 (GRCm39)	Q274R	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,245,548 (GRCm39)	T1172A	probably benign	Het
Klf5	C	T	14: 99,539,666 (GRCm39)	R360C	probably damaging	Het
Lrat	A	G	3: 82,804,293 (GRCm39)	M228T	probably damaging	Het
Mms19	A	T	19: 41,952,372 (GRCm39)	M119K	possibly damaging	Het
Myo3a	A	T	2: 22,490,149 (GRCm39)	K565N	probably damaging	Het
Or10n1	A	T	9: 39,525,294 (GRCm39)	I144L	probably benign	Het
Or1ad6	C	T	11: 50,860,690 (GRCm39)	P282S	probably damaging	Het
Or3a1d	T	C	11: 74,237,588 (GRCm39)	D274G	probably benign	Het
Pcdha6	A	G	18: 37,100,813 (GRCm39)	D2G	probably benign	Het
Pcdhga3	A	G	18: 37,808,938 (GRCm39)	R464G	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pramel42	T	A	5: 94,685,702 (GRCm39)	I454K	probably damaging	Het
Rnf13	A	C	3: 57,728,010 (GRCm39)	K230T	probably damaging	Het
Sema6d	A	G	2: 124,505,979 (GRCm39)	M596V	probably damaging	Het
Slc25a25	T	C	2: 32,320,621 (GRCm39)	K47E	probably benign	Het
Sptbn1	C	T	11: 30,089,114 (GRCm39)	R716H	possibly damaging	Het
Ssx2ip	G	A	3: 146,132,186 (GRCm39)	V216I	probably benign	Het
Tatdn2	T	G	6: 113,679,501 (GRCm39)		probably null	Het
Tmprss6	A	G	15: 78,337,039 (GRCm39)	Y356H	probably damaging	Het
Ttn	A	G	2: 76,687,210 (GRCm39)		probably benign	Het
Umod	A	G	7: 119,065,279 (GRCm39)		probably null	Het
Vmn2r93	T	A	17: 18,524,312 (GRCm39)	I102K	possibly damaging	Het
Zdhhc6	T	C	19: 55,291,169 (GRCm39)	I349V	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
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
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'- TAGCAAGCACTGGGATCCAC -3'
(R):5'- GAGCAAGAAACTCTTCTCTCCTTG -3'

Sequencing Primer
(F):5'- TGGGATCCACCACTCATTATAAGTC -3'
(R):5'- TCACTGTGAATACTGGGAAACG -3'

Posted On

2015-07-21