Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Adgrg4'

325568

Institutional Source

Beutler Lab

Gene Symbol

Adgrg4

Ensembl Gene

ENSMUSG00000053852

Gene Name

adhesion G protein-coupled receptor G4

Synonyms

Gpr112, PGR17, LOC236798

MMRRC Submission

041685-MU

Accession Numbers

Essential gene?

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

Stock #

R4397 (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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	A	10: 126,926,352 (GRCm39)	A866T	unknown	Het
Aig1	A	C	10: 13,528,726 (GRCm39)	S237A	probably benign	Het
Baz1b	C	T	5: 135,273,300 (GRCm39)	R1475W	probably damaging	Het
Bmp1	C	T	14: 70,727,982 (GRCm39)		probably null	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dnajc15	T	C	14: 78,112,234 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,320,525 (GRCm39)	H1334L	probably benign	Het
Fancg	A	T	4: 43,008,897 (GRCm39)	H113Q	probably benign	Het
Gfap	G	A	11: 102,787,810 (GRCm39)	A45V	probably benign	Het
Gjd3	A	T	11: 98,873,247 (GRCm39)	L199Q	probably damaging	Het
Gvin-ps3	A	G	7: 105,682,130 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,519,472 (GRCm39)	D65G	probably damaging	Het
Hcls1	T	C	16: 36,757,662 (GRCm39)	V5A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Iqgap3	T	C	3: 88,011,665 (GRCm39)	Y817H	probably damaging	Het
Iqsec2	C	T	X: 150,992,049 (GRCm39)	T562I	probably damaging	Het
Klb	A	G	5: 65,537,382 (GRCm39)	Y904C	probably damaging	Het
Kremen1	A	T	11: 5,149,610 (GRCm39)	S354T	probably benign	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lrp4	T	C	2: 91,342,015 (GRCm39)	V1876A	probably benign	Het
Magi3	T	C	3: 104,127,030 (GRCm39)	T85A	probably damaging	Het
Map3k12	C	T	15: 102,409,694 (GRCm39)	A694T	probably benign	Het
Mex3b	T	C	7: 82,519,031 (GRCm39)	S449P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,622,771 (GRCm39)		probably null	Het
Nlrp1a	T	G	11: 70,988,030 (GRCm39)	M1046L	probably benign	Het
Nphs1	T	G	7: 30,181,390 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,671,040 (GRCm39)	T119M	probably benign	Het
Or6c201	G	T	10: 128,969,450 (GRCm39)	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,871,694 (GRCm39)	I508F	probably damaging	Het
Phactr3	A	G	2: 177,817,199 (GRCm39)		probably benign	Het
Plcb3	T	C	19: 6,943,193 (GRCm39)	K155E	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psg16	T	C	7: 16,824,623 (GRCm39)	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,654,507 (GRCm39)	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,681,319 (GRCm39)	V105A	probably damaging	Het
Rnf7	A	G	9: 96,360,463 (GRCm39)	M58T	probably benign	Het
Slc25a11	G	A	11: 70,535,677 (GRCm39)	A287V	probably benign	Het
Slit2	G	T	5: 48,377,423 (GRCm39)		probably null	Het
Suco	A	G	1: 161,672,421 (GRCm39)	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Trpv6	A	G	6: 41,602,172 (GRCm39)	I379T	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,513,901 (GRCm39)	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,435 (GRCm39)	D549V	probably 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
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'- ATGGGCTGCTGTGAGGTAAC -3'

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

Posted On

2015-07-06