Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Adgrg4'

326506

Institutional Source

Beutler Lab

Gene Symbol

Adgrg4

Ensembl Gene

ENSMUSG00000053852

Gene Name

adhesion G protein-coupled receptor G4

Synonyms

Gpr112, PGR17, LOC236798

MMRRC Submission

041128-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4393 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

55939594-56025719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55977703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 2193 (L2193V)

Ref Sequence

ENSEMBL: ENSMUSP00000119486 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000136396
AA Change: L2196V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116655
Gene: ENSMUSG00000053852
AA Change: L2196V

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

probably damaging
Transcript: ENSMUST00000153784
AA Change: L2398V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116634
Gene: ENSMUSG00000053852
AA Change: L2398V

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

probably damaging
Transcript: ENSMUST00000154818
AA Change: L2193V

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

SMART Domains

Protein: ENSMUSP00000119486
Gene: ENSMUSG00000053852
AA Change: L2193V

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

Meta Mutation Damage Score

0.2665

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944 (GRCm39)		noncoding transcript	Het
Adgrl1	T	C	8: 84,665,222 (GRCm39)	V1353A	probably benign	Het
Cep68	A	T	11: 20,188,544 (GRCm39)	N620K	probably benign	Het
Clcnkb	A	G	4: 141,139,547 (GRCm39)	S152P	probably benign	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Cyp26c1	G	A	19: 37,675,105 (GRCm39)	R142H	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg5	T	A	14: 24,228,057 (GRCm39)		probably null	Het
Dnai7	T	C	6: 145,140,304 (GRCm39)	T166A	possibly damaging	Het
Ebf3	C	T	7: 136,826,886 (GRCm39)	R342H	probably damaging	Het
Ece2	T	C	16: 20,451,598 (GRCm39)	V380A	probably damaging	Het
Epb41l4a	C	T	18: 34,024,473 (GRCm39)		probably null	Het
Erbb3	G	T	10: 128,408,639 (GRCm39)	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,398,674 (GRCm39)	M651K	probably benign	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Foxp2	A	C	6: 15,377,689 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,695 (GRCm39)	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Gm6408	A	T	5: 146,419,147 (GRCm39)	D54V	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Hcn4	A	G	9: 58,751,583 (GRCm39)	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577 (GRCm39)		probably null	Het
Immt	T	A	6: 71,849,784 (GRCm39)	S435T	probably benign	Het
Kcnip2	A	G	19: 45,800,669 (GRCm39)	L19P	probably benign	Het
Kctd2	T	C	11: 115,320,326 (GRCm39)		probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482 (GRCm39)	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Msl2	A	G	9: 100,978,676 (GRCm39)	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo3a	A	T	2: 22,467,866 (GRCm39)	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,584,231 (GRCm39)	E396G	probably damaging	Het
Ogdh	G	A	11: 6,266,772 (GRCm39)	G141D	probably damaging	Het
Or10q1b	T	C	19: 13,682,554 (GRCm39)	I121T	possibly damaging	Het
Or2h2c	T	C	17: 37,424,971 (GRCm39)		probably benign	Het
Or5w1b	A	T	2: 87,476,256 (GRCm39)	C70*	probably null	Het
Orc2	C	A	1: 58,506,809 (GRCm39)		probably null	Het
P4ha3	C	T	7: 99,954,814 (GRCm39)	P291S	probably benign	Het
Pign	T	C	1: 105,449,751 (GRCm39)	K925R	probably benign	Het
Plekhm1	A	G	11: 103,267,791 (GRCm39)	S727P	possibly damaging	Het
Prr36	G	T	8: 4,264,901 (GRCm39)		probably benign	Het
Prrt3	A	G	6: 113,471,907 (GRCm39)	L755P	probably benign	Het
Secisbp2	A	G	13: 51,808,502 (GRCm39)	H89R	probably damaging	Het
Sgms2	A	T	3: 131,135,466 (GRCm39)		probably null	Het
Slc35d3	T	C	10: 19,725,352 (GRCm39)		probably null	Het
Slu7	T	A	11: 43,330,096 (GRCm39)	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,768,192 (GRCm39)	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,878,450 (GRCm39)	G85V	probably damaging	Het
Tmem51	T	C	4: 141,759,242 (GRCm39)	T169A	probably benign	Het
Tmem69	C	T	4: 116,411,964 (GRCm39)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,084,259 (GRCm39)	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,765,891 (GRCm39)	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,611,219 (GRCm39)	T756A	probably benign	Het
Zfp606	C	T	7: 12,226,776 (GRCm39)	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,087,265 (GRCm39)	T365S	probably benign	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
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
R4504:Adgrg4	UTSW	X	55,961,802 (GRCm39)	missense	possibly damaging	0.63
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'- ATGGACAGGCCTTCCATTATTG -3'
(R):5'- AATGGGCTGCTGTGAGGTAAC -3'

Sequencing Primer
(F):5'- GCTGATACCCATGGTAACCTTCATAG -3'
(R):5'- ACTTTTCATAGAGTGAGTTCTGCC -3'

Posted On

2015-07-06