Mutagenetix > Incidental Mutation

Incidental Mutation 'R1205:Adgrg6'

100420

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

039275-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1205 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14278327-14421403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14310083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 774 (N774I)

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: N746I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: N746I

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: N774I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.9%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifc	T	A	10: 85,817,168 (GRCm39)	D230V	probably damaging	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Duox1	C	T	2: 122,158,406 (GRCm39)	Q630*	probably null	Het
Dzip3	C	T	16: 48,772,044 (GRCm39)	G542R	probably damaging	Het
Epha3	ATGAACTGCT	AT	16: 63,418,611 (GRCm39)		probably null	Het
Fnip1	G	T	11: 54,393,132 (GRCm39)	V523L	possibly damaging	Het
Hc	T	A	2: 34,893,536 (GRCm39)	D1225V	possibly damaging	Het
Hnrnpu	C	T	1: 178,159,734 (GRCm39)		probably benign	Het
Ift172	C	T	5: 31,443,136 (GRCm39)	V125I	probably benign	Het
Kcnip2	T	A	19: 45,783,422 (GRCm39)	Q93L	probably null	Het
Kif27	A	T	13: 58,492,019 (GRCm39)	H373Q	probably benign	Het
Kl	T	C	5: 150,904,153 (GRCm39)	S302P	probably damaging	Het
Lyst	G	A	13: 13,854,787 (GRCm39)	V2386I	probably benign	Het
Map4k4	G	A	1: 40,043,004 (GRCm39)	A128T	probably damaging	Het
Marchf6	A	C	15: 31,469,819 (GRCm39)	M717R	probably benign	Het
Morc2b	A	G	17: 33,354,908 (GRCm39)	Y955H	probably damaging	Het
Myo7b	A	G	18: 32,127,395 (GRCm39)	S636P	probably damaging	Het
Neb	T	A	2: 52,112,996 (GRCm39)	D4266V	probably damaging	Het
Nynrin	G	A	14: 56,091,646 (GRCm39)		probably benign	Het
Or1j18	G	A	2: 36,624,767 (GRCm39)	V145I	probably benign	Het
Or4c107	A	T	2: 88,788,932 (GRCm39)	I41L	probably benign	Het
Or5b104	T	C	19: 13,072,899 (GRCm39)	I38V	probably benign	Het
Pcdh9	A	G	14: 94,123,501 (GRCm39)	S890P	probably benign	Het
Pcnx1	G	T	12: 82,003,017 (GRCm39)	D1052Y	probably damaging	Het
Pibf1	G	A	14: 99,338,639 (GRCm39)	E52K	probably damaging	Het
Siglec1	T	G	2: 130,922,384 (GRCm39)	S564R	possibly damaging	Het
Sin3a	T	A	9: 57,026,459 (GRCm39)	V1125E	probably damaging	Het
Slco4c1	G	T	1: 96,795,613 (GRCm39)	D148E	probably damaging	Het
Spag6l	A	T	16: 16,605,171 (GRCm39)	L127Q	probably damaging	Het
Syne4	C	A	7: 30,014,761 (GRCm39)	T68N	probably damaging	Het
Tas2r134	A	G	2: 51,517,998 (GRCm39)	Y159C	probably benign	Het
Tasor	A	T	14: 27,183,275 (GRCm39)	D578V	probably damaging	Het
Thoc2l	T	C	5: 104,668,079 (GRCm39)	L867S	probably benign	Het
Tmem132a	C	A	19: 10,836,448 (GRCm39)	R694L	probably benign	Het
Ttc28	C	T	5: 111,433,635 (GRCm39)	P2192L	probably benign	Het
Ttc34	T	G	4: 154,946,671 (GRCm39)	V857G	probably benign	Het
Ugt1a7c	A	T	1: 88,023,678 (GRCm39)	H279L	probably benign	Het
Vmn1r32	G	A	6: 66,530,539 (GRCm39)	T79I	probably benign	Het
Vps13a	A	T	19: 16,617,905 (GRCm39)	V2960D	probably damaging	Het
Wee2	G	T	6: 40,420,875 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- CCACACCAACACCTGTATCTGTGTC -3'
(R):5'- TAACGCTGGTTCATGCTGTCCC -3'

Sequencing Primer
(F):5'- GTATTTGGAGATGCTCAAGACC -3'
(R):5'- CCCTTCAGGAAAGTCAGTGAGTC -3'

Posted On

2014-01-15