Mutagenetix > Incidental Mutation

Incidental Mutation 'R4504:Adgrg4'

331951

Institutional Source

Beutler Lab

Gene Symbol

Adgrg4

Ensembl Gene

ENSMUSG00000053852

Gene Name

adhesion G protein-coupled receptor G4

Synonyms

Gpr112, PGR17, LOC236798

MMRRC Submission

041755-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4504 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

55939594-56025719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55961802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1124 (R1124C)

Ref Sequence

ENSEMBL: ENSMUSP00000119486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000136396] [ENSMUST00000153784] [ENSMUST00000154818] [ENSMUST00000168724]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000136396
AA Change: R1266C

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116655
Gene: ENSMUSG00000053852
AA Change: R1266C

Domain	Start	End	E-Value	Type
SCOP:d1saca_	2	159	5e-14	SMART
low complexity region	242	261	N/A	INTRINSIC
low complexity region	310	321	N/A	INTRINSIC
internal_repeat_1	459	720	5.68e-5	PROSPERO
internal_repeat_1	719	999	5.68e-5	PROSPERO
low complexity region	1013	1024	N/A	INTRINSIC
low complexity region	1051	1066	N/A	INTRINSIC
low complexity region	1079	1101	N/A	INTRINSIC
low complexity region	1243	1261	N/A	INTRINSIC
low complexity region	1346	1357	N/A	INTRINSIC
low complexity region	1536	1550	N/A	INTRINSIC
low complexity region	1580	1596	N/A	INTRINSIC
low complexity region	1843	1864	N/A	INTRINSIC
low complexity region	1892	1911	N/A	INTRINSIC
low complexity region	1953	1970	N/A	INTRINSIC
low complexity region	2068	2076	N/A	INTRINSIC
low complexity region	2257	2269	N/A	INTRINSIC
GPS	2384	2436	1.79e-18	SMART
Pfam:7tm_2	2443	2684	4.8e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153784
AA Change: R1329C

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116634
Gene: ENSMUSG00000053852
AA Change: R1329C

Domain	Start	End	E-Value	Type
SCOP:d1saca_	28	222	1e-17	SMART
low complexity region	305	324	N/A	INTRINSIC
low complexity region	373	384	N/A	INTRINSIC
internal_repeat_1	522	783	2.5e-5	PROSPERO
internal_repeat_1	782	1062	2.5e-5	PROSPERO
low complexity region	1076	1087	N/A	INTRINSIC
low complexity region	1114	1129	N/A	INTRINSIC
low complexity region	1142	1164	N/A	INTRINSIC
low complexity region	1306	1324	N/A	INTRINSIC
low complexity region	1409	1420	N/A	INTRINSIC
low complexity region	1599	1613	N/A	INTRINSIC
low complexity region	1643	1659	N/A	INTRINSIC
low complexity region	1906	1927	N/A	INTRINSIC
low complexity region	1955	1974	N/A	INTRINSIC
low complexity region	2016	2033	N/A	INTRINSIC
low complexity region	2131	2139	N/A	INTRINSIC
low complexity region	2289	2300	N/A	INTRINSIC
low complexity region	2459	2471	N/A	INTRINSIC
GPS	2631	2683	1.79e-18	SMART
Pfam:7tm_2	2691	2932	8.6e-53	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154818
AA Change: R1124C

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119486
Gene: ENSMUSG00000053852
AA Change: R1124C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	100	119	N/A	INTRINSIC
low complexity region	168	179	N/A	INTRINSIC
internal_repeat_1	317	578	4.23e-5	PROSPERO
internal_repeat_1	577	857	4.23e-5	PROSPERO
low complexity region	871	882	N/A	INTRINSIC
low complexity region	909	924	N/A	INTRINSIC
low complexity region	937	959	N/A	INTRINSIC
low complexity region	1101	1119	N/A	INTRINSIC
low complexity region	1204	1215	N/A	INTRINSIC
low complexity region	1394	1408	N/A	INTRINSIC
low complexity region	1438	1454	N/A	INTRINSIC
low complexity region	1701	1722	N/A	INTRINSIC
low complexity region	1750	1769	N/A	INTRINSIC
low complexity region	1811	1828	N/A	INTRINSIC
low complexity region	1926	1934	N/A	INTRINSIC
low complexity region	2084	2095	N/A	INTRINSIC
low complexity region	2254	2266	N/A	INTRINSIC
GPS	2426	2478	1.79e-18	SMART
Pfam:7tm_2	2485	2727	3.9e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168724

SMART Domains

Protein: ENSMUSP00000127627
Gene: ENSMUSG00000053852

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	A	G	14: 44,407,899 (GRCm39)	S45P	probably damaging	Het
Anxa13	T	C	15: 58,228,052 (GRCm39)		noncoding transcript	Het
Arhgap32	C	A	9: 32,093,135 (GRCm39)		probably null	Het
Carm1	T	C	9: 21,480,822 (GRCm39)	F99L	probably damaging	Het
Dennd1b	A	G	1: 139,013,665 (GRCm39)	E253G	possibly damaging	Het
Dsg4	A	G	18: 20,594,493 (GRCm39)	I541V	probably benign	Het
Dstyk	A	G	1: 132,362,127 (GRCm39)	T186A	possibly damaging	Het
Ear1	A	T	14: 44,056,721 (GRCm39)	V49D	probably benign	Het
Epha10	A	G	4: 124,809,480 (GRCm39)		probably benign	Het
Fbh1	A	G	2: 11,753,828 (GRCm39)	V838A	possibly damaging	Het
Fndc8	T	A	11: 82,783,226 (GRCm39)	M69K	probably benign	Het
Golga1	T	C	2: 38,913,466 (GRCm39)	I482V	probably benign	Het
Hivep3	G	A	4: 119,590,990 (GRCm39)		probably benign	Het
Igkv13-85	A	G	6: 68,907,356 (GRCm39)	F82L	probably damaging	Het
Itih1	G	A	14: 30,657,842 (GRCm39)	R410C	probably damaging	Het
Kcnc2	T	C	10: 112,291,699 (GRCm39)	W296R	probably damaging	Het
Kcnq3	A	T	15: 65,867,191 (GRCm39)	Y817*	probably null	Het
Kif3b	T	C	2: 153,165,564 (GRCm39)		probably null	Het
Krtcap2	A	G	3: 89,153,563 (GRCm39)		probably benign	Het
Lhx5	C	A	5: 120,578,073 (GRCm39)	H298N	possibly damaging	Het
Notch1	A	G	2: 26,362,189 (GRCm39)	V1022A	probably benign	Het
Npc1l1	A	G	11: 6,178,741 (GRCm39)	L223S	possibly damaging	Het
Or11m3	T	C	15: 98,396,015 (GRCm39)	F221L	probably benign	Het
Or4c10	C	T	2: 89,760,695 (GRCm39)	P181S	possibly damaging	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Pbxip1	A	G	3: 89,353,690 (GRCm39)	D281G	possibly damaging	Het
Pcdhga8	G	C	18: 37,949,816 (GRCm39)	V411L	probably damaging	Het
Pcsk5	C	T	19: 17,429,319 (GRCm39)	C1553Y	probably damaging	Het
Pdgfc	A	C	3: 81,082,298 (GRCm39)	M164L	probably benign	Het
Pdzd8	T	C	19: 59,333,880 (GRCm39)	Y47C	probably damaging	Het
Pip5k1c	T	A	10: 81,150,945 (GRCm39)	I633N	probably damaging	Het
Pkn1	G	A	8: 84,419,556 (GRCm39)	R16*	probably null	Het
Pole2	A	G	12: 69,269,242 (GRCm39)	V85A	probably benign	Het
Ppp4c	A	C	7: 126,386,637 (GRCm39)	L150R	probably damaging	Het
Pramel25	G	C	4: 143,520,553 (GRCm39)	E102Q	probably benign	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Rnf144a	T	A	12: 26,377,302 (GRCm39)	R92S	probably benign	Het
Sbno2	C	A	10: 79,896,326 (GRCm39)	R898L	possibly damaging	Het
Scnn1b	A	C	7: 121,511,698 (GRCm39)	N370T	probably damaging	Het
Taar3	A	G	10: 23,825,471 (GRCm39)	I6V	possibly damaging	Het
Vps13a	T	C	19: 16,672,866 (GRCm39)	E1302G	possibly damaging	Het

Other mutations in Adgrg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03215:Adgrg4	APN	X	56,022,956 (GRCm39)	missense	probably damaging	1.00
R3407:Adgrg4	UTSW	X	56,013,487 (GRCm39)	missense	probably damaging	0.97
R3408:Adgrg4	UTSW	X	56,013,487 (GRCm39)	missense	probably damaging	0.97
R3947:Adgrg4	UTSW	X	55,963,114 (GRCm39)	missense	probably benign	0.25
R3948:Adgrg4	UTSW	X	55,963,114 (GRCm39)	missense	probably benign	0.25
R4067:Adgrg4	UTSW	X	56,005,320 (GRCm39)	missense	probably damaging	1.00
R4207:Adgrg4	UTSW	X	55,964,109 (GRCm39)	missense	possibly damaging	0.92
R4393:Adgrg4	UTSW	X	55,977,703 (GRCm39)	missense	probably damaging	1.00
R4395:Adgrg4	UTSW	X	55,977,703 (GRCm39)	missense	probably damaging	1.00
R4397:Adgrg4	UTSW	X	55,977,703 (GRCm39)	missense	probably damaging	1.00
Z1176:Adgrg4	UTSW	X	55,959,619 (GRCm39)	missense	probably benign	0.00
Z1176:Adgrg4	UTSW	X	55,940,062 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGCACTTTCCCTTGGGAAATG -3'
(R):5'- AGTTGTCCTGGAAGCATCTAC -3'

Sequencing Primer
(F):5'- CTTTCCCTTGGGAAATGACAGAC -3'
(R):5'- GTCCTGGAAGCATCTACAATTG -3'

Posted On

2015-07-21