Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Grm4'

577603

Institutional Source

Beutler Lab

Gene Symbol

Grm4

Ensembl Gene

ENSMUSG00000063239

Gene Name

glutamate receptor, metabotropic 4

Synonyms

Gprc1d, mGluR4

MMRRC Submission

045524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27641361-27732800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27654345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 535 (G535D)

Ref Sequence

ENSEMBL: ENSMUSP00000112578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118161] [ENSMUST00000118489] [ENSMUST00000231290] [ENSMUST00000231416] [ENSMUST00000231809] [ENSMUST00000232243]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118161
AA Change: G535D

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

SMART Domains

Protein: ENSMUSP00000113819
Gene: ENSMUSG00000063239
AA Change: G535D

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:ANF_receptor	77	482	1.4e-110	PFAM
Pfam:Peripla_BP_6	144	486	9e-13	PFAM
Pfam:NCD3G	516	566	2.4e-14	PFAM
Pfam:7tm_3	599	844	7.6e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118489
AA Change: G535D

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

SMART Domains

Protein: ENSMUSP00000112578
Gene: ENSMUSG00000063239
AA Change: G535D

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:ANF_receptor	77	482	6.2e-104	PFAM
Pfam:Peripla_BP_6	144	486	8.3e-12	PFAM
Pfam:NCD3G	516	566	5.4e-15	PFAM
Pfam:7tm_3	597	817	1.9e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000231290
AA Change: G535D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231416
AA Change: G280D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231809
AA Change: G488D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232243

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of theis gene results in impaired motor learning, and reduced paired-pulse facilitation and post-tetanic potential. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,035,131 (GRCm39)	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,647,192 (GRCm39)	V3116D	probably damaging	Het
Adss1	A	T	12: 112,600,585 (GRCm39)	T185S	probably damaging	Het
Ago2	G	A	15: 73,018,348 (GRCm39)	P30L	probably damaging	Het
Arb2a	A	G	13: 77,907,561 (GRCm39)	I41V	probably damaging	Het
Atp5pf	C	T	16: 84,628,251 (GRCm39)	V44M	probably benign	Het
Atp7b	T	A	8: 22,501,865 (GRCm39)	I833F	probably damaging	Het
Birc6	T	A	17: 75,009,336 (GRCm39)	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,579,310 (GRCm39)	D1796N		Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cnga1	A	G	5: 72,762,647 (GRCm39)	I289T	probably benign	Het
Crybg1	C	A	10: 43,880,515 (GRCm39)	E224D	probably benign	Het
Dysf	T	C	6: 84,114,362 (GRCm39)	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,647,469 (GRCm39)	N339K	probably damaging	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam184a	T	C	10: 53,574,730 (GRCm39)	E293G	probably damaging	Het
Folh1	G	A	7: 86,380,956 (GRCm39)	P506S	probably benign	Het
Ftcd	A	T	10: 76,415,997 (GRCm39)	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494 (GRCm39)	V6D	possibly damaging	Het
Ghitm	C	A	14: 36,853,538 (GRCm39)	G101C	probably damaging	Het
Gimap5	T	A	6: 48,729,838 (GRCm39)	V136D	probably damaging	Het
Gse1	T	C	8: 120,956,450 (GRCm39)	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,185,014 (GRCm39)	I279T	probably damaging	Het
Idi2l	T	A	13: 8,993,340 (GRCm39)	H51L	probably damaging	Het
Itpr1	T	C	6: 108,366,345 (GRCm39)	S923P	probably damaging	Het
Krt39	C	A	11: 99,408,887 (GRCm39)	C303F	probably benign	Het
Lrrn1	T	C	6: 107,545,482 (GRCm39)	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,503,487 (GRCm39)	R277W	probably damaging	Het
Ltb4r1	T	C	14: 56,005,375 (GRCm39)	L226P	probably damaging	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,557,285 (GRCm39)	L125P	probably damaging	Het
Nid1	T	G	13: 13,656,636 (GRCm39)	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,116,951 (GRCm39)	F225C	probably benign	Het
Notch3	C	T	17: 32,376,940 (GRCm39)	A322T	probably damaging	Het
Or14c43	A	G	7: 86,115,063 (GRCm39)	H148R	probably benign	Het
Or52a5b	G	T	7: 103,417,026 (GRCm39)	Q193K	probably benign	Het
Or7g34	T	A	9: 19,478,162 (GRCm39)	T173S	probably benign	Het
Otogl	A	G	10: 107,639,524 (GRCm39)	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,603,625 (GRCm39)	D92V	probably benign	Het
Pigt	T	C	2: 164,344,419 (GRCm39)	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,612,996 (GRCm39)	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,126,326 (GRCm39)	F1344L	probably benign	Het
Polr1has	A	G	17: 37,275,275 (GRCm39)	D16G	probably damaging	Het
Psmd3	T	A	11: 98,586,377 (GRCm39)	L515Q	probably damaging	Het
Pus1	A	G	5: 110,922,452 (GRCm39)	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,701,395 (GRCm39)	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Raver2	T	A	4: 100,959,860 (GRCm39)	H113Q	probably damaging	Het
Recql4	T	C	15: 76,589,765 (GRCm39)	D760G	unknown	Het
Rhobtb3	C	T	13: 76,058,860 (GRCm39)	V313M	probably benign	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnf185	T	C	11: 3,376,578 (GRCm39)	Q135R	probably benign	Het
Sema3f	T	C	9: 107,561,235 (GRCm39)	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,256,091 (GRCm39)	T904S	probably benign	Het
Slc4a10	T	C	2: 62,134,290 (GRCm39)	V1002A	probably benign	Het
Taf1b	T	C	12: 24,554,992 (GRCm39)	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tenm4	A	T	7: 96,523,420 (GRCm39)	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,404,263 (GRCm39)	V357M	probably damaging	Het
Tnxb	C	T	17: 34,922,335 (GRCm39)	P2383S	possibly damaging	Het
Trpm1	A	T	7: 63,858,723 (GRCm39)	M382L	probably benign	Het
Trrap	A	G	5: 144,788,019 (GRCm39)	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,721,067 (GRCm39)	Y494*	probably null	Het
Ubr2	C	T	17: 47,275,714 (GRCm39)	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,172,280 (GRCm39)	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,678,869 (GRCm39)	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,599,407 (GRCm39)	D364N	probably benign	Het
Vps45	C	A	3: 95,954,448 (GRCm39)		probably null	Het
Wdr25	A	C	12: 108,992,367 (GRCm39)	H426P	probably damaging	Het
Wdr83	A	T	8: 85,806,310 (GRCm39)	W136R	probably damaging	Het
Xylt1	A	C	7: 117,191,232 (GRCm39)	I343L	possibly damaging	Het
Zscan4b	T	C	7: 10,637,985 (GRCm39)	Q53R	possibly damaging	Het

Other mutations in Grm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Grm4	APN	17	27,653,711 (GRCm39)	nonsense	probably null
IGL02380:Grm4	APN	17	27,653,635 (GRCm39)	missense	probably damaging	1.00
IGL03244:Grm4	APN	17	27,653,797 (GRCm39)	missense	probably damaging	0.99
R0013:Grm4	UTSW	17	27,650,549 (GRCm39)	missense	probably benign	0.01
R0352:Grm4	UTSW	17	27,670,865 (GRCm39)	splice site	probably benign
R0599:Grm4	UTSW	17	27,650,464 (GRCm39)	missense	probably benign	0.39
R0616:Grm4	UTSW	17	27,653,538 (GRCm39)	missense	probably damaging	1.00
R0645:Grm4	UTSW	17	27,654,183 (GRCm39)	missense	probably damaging	1.00
R0726:Grm4	UTSW	17	27,657,412 (GRCm39)	splice site	probably benign
R1085:Grm4	UTSW	17	27,692,007 (GRCm39)	missense	probably damaging	1.00
R1486:Grm4	UTSW	17	27,653,691 (GRCm39)	missense	probably damaging	1.00
R1535:Grm4	UTSW	17	27,653,775 (GRCm39)	missense	probably benign	0.01
R1799:Grm4	UTSW	17	27,691,914 (GRCm39)	missense	probably damaging	0.99
R1914:Grm4	UTSW	17	27,653,686 (GRCm39)	missense	probably damaging	0.99
R2472:Grm4	UTSW	17	27,653,649 (GRCm39)	missense	probably damaging	1.00
R3759:Grm4	UTSW	17	27,654,273 (GRCm39)	missense	probably benign	0.00
R4244:Grm4	UTSW	17	27,721,709 (GRCm39)	missense	probably damaging	1.00
R5390:Grm4	UTSW	17	27,653,712 (GRCm39)	missense	probably damaging	1.00
R5476:Grm4	UTSW	17	27,653,772 (GRCm39)	missense	probably benign	0.04
R5516:Grm4	UTSW	17	27,657,385 (GRCm39)	missense	probably benign	0.06
R5897:Grm4	UTSW	17	27,654,137 (GRCm39)	missense	probably benign	0.02
R5956:Grm4	UTSW	17	27,654,129 (GRCm39)	missense	probably benign	0.01
R6391:Grm4	UTSW	17	27,654,294 (GRCm39)	missense	probably benign	0.00
R7330:Grm4	UTSW	17	27,653,798 (GRCm39)	nonsense	probably null
R8338:Grm4	UTSW	17	27,653,977 (GRCm39)	missense	probably damaging	1.00
R8734:Grm4	UTSW	17	27,657,765 (GRCm39)	missense	probably damaging	1.00
R8899:Grm4	UTSW	17	27,653,754 (GRCm39)	missense	probably damaging	1.00
R9157:Grm4	UTSW	17	27,653,956 (GRCm39)	missense	probably benign	0.21
R9203:Grm4	UTSW	17	27,653,980 (GRCm39)	missense	probably benign	0.04
R9267:Grm4	UTSW	17	27,654,183 (GRCm39)	missense	possibly damaging	0.86
R9292:Grm4	UTSW	17	27,692,037 (GRCm39)	missense	probably damaging	1.00
R9344:Grm4	UTSW	17	27,653,737 (GRCm39)	missense	probably benign	0.09
R9578:Grm4	UTSW	17	27,669,183 (GRCm39)	missense	possibly damaging	0.56
R9746:Grm4	UTSW	17	27,657,765 (GRCm39)	missense	probably damaging	1.00
R9762:Grm4	UTSW	17	27,721,688 (GRCm39)	missense	probably damaging	1.00
Z1177:Grm4	UTSW	17	27,669,195 (GRCm39)	missense	probably benign	0.12
Z1177:Grm4	UTSW	17	27,669,168 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAGCGCACAAAAGTGACC -3'
(R):5'- GCCTATTCAGGTGTGGAGATAG -3'

Sequencing Primer
(F):5'- ACAGCGTGGCAGCAATGC -3'
(R):5'- TAGAGAGAAGGTCTGGGCGC -3'

Posted On

2019-10-07