Mutagenetix > Incidental Mutation

Incidental Mutation 'R4067:Adgrg4'

316196

Institutional Source

Beutler Lab

Gene Symbol

Adgrg4

Ensembl Gene

ENSMUSG00000053852

Gene Name

adhesion G protein-coupled receptor G4

Synonyms

Gpr112, PGR17, LOC236798

MMRRC Submission

040853-MU

Accession Numbers

Essential gene?

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

Stock #

R4067 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

55939594-56025719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56005320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 2527 (N2527S)

Ref Sequence

ENSEMBL: ENSMUSP00000119486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096431] [ENSMUST00000136396] [ENSMUST00000153784] [ENSMUST00000154818]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096431

SMART Domains

Protein: ENSMUSP00000094165
Gene: ENSMUSG00000053852

Domain	Start	End	E-Value	Type
Pfam:7tm_2	1	75	1.1e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136396
AA Change: N2485S

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

SMART Domains

Protein: ENSMUSP00000116655
Gene: ENSMUSG00000053852
AA Change: N2485S

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: N2732S

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

SMART Domains

Protein: ENSMUSP00000116634
Gene: ENSMUSG00000053852
AA Change: N2732S

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: N2527S

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

SMART Domains

Protein: ENSMUSP00000119486
Gene: ENSMUSG00000053852
AA Change: N2527S

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

0.3830

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,769,150 (GRCm39)	T121S	possibly damaging	Het
4930503E14Rik	T	C	14: 44,406,641 (GRCm39)	E136G	probably damaging	Het
Ak1	G	A	2: 32,519,593 (GRCm39)	S7N	probably benign	Het
Aktip	A	C	8: 91,852,466 (GRCm39)	I230R	possibly damaging	Het
Alms1	A	G	6: 85,598,271 (GRCm39)	I1032M	probably damaging	Het
Asb4	T	A	6: 5,423,651 (GRCm39)	V266E	probably damaging	Het
Bace1	G	A	9: 45,765,962 (GRCm39)	V130M	probably damaging	Het
Bglap	A	T	3: 88,291,744 (GRCm39)		probably benign	Het
Brpf3	T	C	17: 29,040,233 (GRCm39)	S885P	probably benign	Het
Chd9	A	T	8: 91,750,202 (GRCm39)	I1742F	possibly damaging	Het
Col9a2	T	A	4: 120,909,586 (GRCm39)	I415N	probably damaging	Het
Cybc1	A	T	11: 121,115,528 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Enam	A	G	5: 88,651,236 (GRCm39)	Y840C	probably damaging	Het
Etnppl	T	A	3: 130,425,442 (GRCm39)	C416S	probably damaging	Het
Fgf20	A	T	8: 40,732,896 (GRCm39)	S181T	probably benign	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gcn1	T	G	5: 115,737,147 (GRCm39)	L1295R	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm9989	T	C	3: 81,829,549 (GRCm39)		noncoding transcript	Het
Gsdmc4	A	T	15: 63,765,736 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,198,772 (GRCm39)		noncoding transcript	Het
Ighv10-1	A	T	12: 114,442,643 (GRCm39)	M114K	probably benign	Het
Il22b	T	C	10: 118,126,115 (GRCm39)	I161V	probably damaging	Het
Itfg2	T	A	6: 128,387,413 (GRCm39)		probably benign	Het
Kirrel1	G	A	3: 86,995,774 (GRCm39)	Q387*	probably null	Het
Klk1	C	T	7: 43,876,968 (GRCm39)	R24*	probably null	Het
Klra7	T	C	6: 130,208,612 (GRCm39)		probably null	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mrps2	A	G	2: 28,359,782 (GRCm39)	N213S	probably benign	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Ntrk3	T	A	7: 78,167,185 (GRCm39)	Y102F	probably damaging	Het
Or8k24	A	T	2: 86,216,431 (GRCm39)	C110*	probably null	Het
Otof	C	T	5: 30,556,635 (GRCm39)	G282D	probably damaging	Het
Pcdhb2	A	T	18: 37,430,367 (GRCm39)		probably null	Het
Pign	A	T	1: 105,515,703 (GRCm39)		probably null	Het
Plekha6	G	A	1: 133,222,416 (GRCm39)	E1001K	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Pudp	A	G	18: 50,701,329 (GRCm39)	F135L	probably benign	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Rel	A	C	11: 23,703,215 (GRCm39)		probably null	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Slc30a1	G	C	1: 191,639,401 (GRCm39)	A95P	probably damaging	Het
Slc47a2	T	C	11: 61,194,773 (GRCm39)	T469A	probably benign	Het
Slc4a10	A	T	2: 61,876,989 (GRCm39)	M1L	probably benign	Het
Slc8a1	T	A	17: 81,955,703 (GRCm39)	D445V	probably damaging	Het
Slc9a7	C	T	X: 20,071,793 (GRCm39)	G113R	probably damaging	Het
Spata31e5	T	A	1: 28,816,712 (GRCm39)	D440V	probably damaging	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stk26	A	G	X: 49,977,910 (GRCm39)	E317G	probably benign	Het
Tex10	A	T	4: 48,459,355 (GRCm39)	Y506*	probably null	Het
Trhde	T	A	10: 114,280,585 (GRCm39)	R848*	probably null	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Usp24	C	T	4: 106,216,286 (GRCm39)	T379M	possibly damaging	Het
Zfp783	A	T	6: 47,922,499 (GRCm39)		noncoding transcript	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
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
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'- GGCTCATAGGCTGCAGTAAG -3'
(R):5'- GGTAGAATACTCACCCCAGC -3'

Sequencing Primer
(F):5'- CTCATAGGCTGCAGTAAGGGAAC -3'
(R):5'- TGTGTTGAAGACTTTGACTAAAGC -3'

Posted On

2015-05-15