Mutagenetix > Incidental Mutation

Incidental Mutation 'R3408:Adgrg4'

258391

Institutional Source

Beutler Lab

Gene Symbol

Adgrg4

Ensembl Gene

ENSMUSG00000053852

Gene Name

adhesion G protein-coupled receptor G4

Synonyms

Gpr112, PGR17, LOC236798

MMRRC Submission

040626-MU

Accession Numbers

Essential gene?

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

Stock #

R3408 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

55939594-56025719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56013487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 2838 (I2838F)

Ref Sequence

ENSEMBL: ENSMUSP00000116634 (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: I2591F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116655
Gene: ENSMUSG00000053852
AA Change: I2591F

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

unknown
Transcript: ENSMUST00000145035
AA Change: I3F

SMART Domains

Protein: ENSMUSP00000122908
Gene: ENSMUSG00000053852
AA Change: I3F

Domain	Start	End	E-Value	Type
Pfam:7tm_2	1	97	7e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153784
AA Change: I2838F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116634
Gene: ENSMUSG00000053852
AA Change: I2838F

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: I2633F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119486
Gene: ENSMUSG00000053852
AA Change: I2633F

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 89.1%

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	C	T	2: 155,845,840 (GRCm39)	V6I	probably benign	Het
Adam17	T	A	12: 21,379,119 (GRCm39)	K643N	probably damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,539,068 (GRCm39)	V167A	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,620,578 (GRCm39)	T865M	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,038,254 (GRCm39)	Y341N	probably damaging	Het
Frem1	A	T	4: 82,930,223 (GRCm39)	V241E	probably damaging	Het
Gpi1	A	G	7: 33,902,104 (GRCm39)	V500A	probably damaging	Het
Ilk	A	T	7: 105,390,181 (GRCm39)	M155L	probably benign	Het
Ipo8	T	C	6: 148,723,207 (GRCm39)	D70G	probably benign	Het
Macf1	T	C	4: 123,275,574 (GRCm39)	Q6283R	probably damaging	Het
Mfsd1	T	A	3: 67,504,046 (GRCm39)	M346K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myo7a	A	T	7: 97,730,294 (GRCm39)	F758Y	probably benign	Het
Nalcn	T	A	14: 123,834,029 (GRCm39)	S49C	probably null	Het
Ncan	G	A	8: 70,564,801 (GRCm39)	T271I	probably damaging	Het
Nr5a2	C	T	1: 136,868,236 (GRCm39)	A299T	probably benign	Het
Or10ag60	A	T	2: 87,438,220 (GRCm39)	I163L	probably benign	Het
Or4g16	A	T	2: 111,136,850 (GRCm39)	Q100L	probably damaging	Het
Or51q1c	G	T	7: 103,652,550 (GRCm39)	E23*	probably null	Het
Or9s23	A	G	1: 92,501,675 (GRCm39)	T261A	probably damaging	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Plch1	A	G	3: 63,606,768 (GRCm39)		probably benign	Het
Plekhg5	A	G	4: 152,192,749 (GRCm39)	T559A	probably damaging	Het
Rfx2	G	T	17: 57,110,526 (GRCm39)	D153E	probably benign	Het
Sh3bp4	G	T	1: 89,072,769 (GRCm39)	C539F	possibly damaging	Het
Slco1b2	A	T	6: 141,621,982 (GRCm39)	H479L	probably benign	Het
Spmip9	C	T	6: 70,892,690 (GRCm39)	S19N	possibly damaging	Het
Tmem150b	G	T	7: 4,727,339 (GRCm39)	F55L	probably damaging	Het
Vmn1r60	A	T	7: 5,548,148 (GRCm39)		probably null	Het
Vmn2r80	C	T	10: 79,004,227 (GRCm39)	L147F	possibly damaging	Het
Vps50	A	T	6: 3,600,212 (GRCm39)	K890N	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
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
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'- GGACACAAGCTTCCATTGTATG -3'
(R):5'- AAACTGATTGTGCCTTTGAGGTC -3'

Sequencing Primer
(F):5'- CCATTGTATGGTACTAGAAGTAGGGC -3'
(R):5'- GCCTTTGAGGTCATTCAGGATC -3'

Posted On

2015-01-23