Mutagenetix > Incidental Mutation

Incidental Mutation 'R9746:Grm4'

732170

Institutional Source

Beutler Lab

Gene Symbol

Grm4

Ensembl Gene

ENSMUSG00000063239

Gene Name

glutamate receptor, metabotropic 4

Synonyms

Gprc1d, mGluR4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27641361-27732800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27657765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 414 (Y414N)

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: Y414N

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

SMART Domains

Protein: ENSMUSP00000113819
Gene: ENSMUSG00000063239
AA Change: Y414N

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: Y414N

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

SMART Domains

Protein: ENSMUSP00000112578
Gene: ENSMUSG00000063239
AA Change: Y414N

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: Y414N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231416
AA Change: Y159N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231809
AA Change: Y367N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232243

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,598 (GRCm39)	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652 (GRCm39)	L153H	probably damaging	Het
Actn4	A	T	7: 28,618,431 (GRCm39)	D76E	probably benign	Het
Afdn	A	C	17: 14,066,782 (GRCm39)	M640L	probably benign	Het
Angpt1	A	T	15: 42,539,837 (GRCm39)	F7L	probably benign	Het
Ap3b2	A	G	7: 81,126,092 (GRCm39)	F373S	probably damaging	Het
Armc2	T	A	10: 41,800,457 (GRCm39)	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,630,197 (GRCm39)	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 55,021,895 (GRCm39)		probably null	Het
Capn8	G	A	1: 182,438,670 (GRCm39)		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,637,081 (GRCm39)	N3103D	probably benign	Het
Chd9	G	A	8: 91,738,063 (GRCm39)	R1565Q	unknown	Het
Cir1	G	A	2: 73,134,152 (GRCm39)	T139I	probably damaging	Het
Cmah	T	C	13: 24,619,673 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,450,800 (GRCm39)	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,801,793 (GRCm39)	T979S	probably benign	Het
Dnah11	T	A	12: 117,842,311 (GRCm39)	K4423*	probably null	Het
Dnajb4	A	G	3: 151,892,320 (GRCm39)	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,072,307 (GRCm39)		probably null	Het
Dtwd1	A	G	2: 125,996,595 (GRCm39)	T27A	probably benign	Het
Ep400	C	T	5: 110,889,872 (GRCm39)	D464N	unknown	Het
Epb42	A	T	2: 120,855,091 (GRCm39)	I498N	probably benign	Het
Fhod1	A	G	8: 106,064,048 (GRCm39)	V219A	unknown	Het
Gabrb2	A	T	11: 42,517,436 (GRCm39)	E419D	probably benign	Het
Galnt18	A	T	7: 111,071,168 (GRCm39)	N615K	possibly damaging	Het
Gm29106	T	A	1: 118,127,254 (GRCm39)	H315Q	possibly damaging	Het
Gprin2	G	T	14: 33,917,615 (GRCm39)	Q52K	probably benign	Het
Gulo	C	A	14: 66,225,630 (GRCm39)		probably null	Het
H2-M1	A	C	17: 36,980,997 (GRCm39)	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,852,951 (GRCm39)	W118R	probably damaging	Het
Hs6st3	G	A	14: 120,106,492 (GRCm39)	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,404,519 (GRCm39)	S547T	possibly damaging	Het
Kank1	G	T	19: 25,386,872 (GRCm39)	V182F	probably damaging	Het
Kif20b	T	A	19: 34,928,149 (GRCm39)	L1137*	probably null	Het
Klhl7	A	G	5: 24,331,818 (GRCm39)		probably null	Het
Krt13	T	A	11: 100,011,987 (GRCm39)	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,290,064 (GRCm39)	V71A	probably benign	Het
Ly6g	T	C	15: 75,030,458 (GRCm39)	V92A	probably benign	Het
Map2k3	G	A	11: 60,822,929 (GRCm39)		probably benign	Het
Mast2	A	C	4: 116,168,927 (GRCm39)	D842E	probably benign	Het
Mpo	T	G	11: 87,694,349 (GRCm39)	M693R	probably benign	Het
Myo15a	C	A	11: 60,378,234 (GRCm39)	S212*	probably null	Het
Nadk2	C	T	15: 9,106,824 (GRCm39)	R37*	probably null	Het
Ncapd3	G	A	9: 26,974,655 (GRCm39)	R709H	probably benign	Het
Nck2	T	A	1: 43,572,892 (GRCm39)	Y55*	probably null	Het
Neurl4	A	G	11: 69,798,301 (GRCm39)	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527 (GRCm39)	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,484,950 (GRCm39)	S148T	probably benign	Het
Nr1d1	T	C	11: 98,661,160 (GRCm39)	T369A	probably benign	Het
Nub1	T	G	5: 24,908,483 (GRCm39)	F411V	probably damaging	Het
Nup188	T	A	2: 30,194,300 (GRCm39)	Y158N	probably damaging	Het
Or2d36	A	T	7: 106,746,660 (GRCm39)	I46F	probably benign	Het
Or5e1	A	G	7: 108,354,639 (GRCm39)	N192S	probably benign	Het
Or5m8	A	G	2: 85,823,091 (GRCm39)	Y310C	probably benign	Het
Or6c6c	A	T	10: 129,541,208 (GRCm39)	I154F	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,928 (GRCm39)	I279K	unknown	Het
Orc2	C	T	1: 58,536,610 (GRCm39)	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,162,743 (GRCm39)	V182D	probably damaging	Het
Parvg	T	G	15: 84,210,424 (GRCm39)	C30W	probably benign	Het
Pcdha1	T	A	18: 37,065,713 (GRCm39)	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,800,242 (GRCm39)	Q635K	probably benign	Het
Pramel26	T	C	4: 143,536,886 (GRCm39)	T482A	probably benign	Het
Psg16	A	G	7: 16,832,086 (GRCm39)	I341V	probably benign	Het
Psme4	C	T	11: 30,826,868 (GRCm39)	Q1796*	probably null	Het
Ptn	T	G	6: 36,692,699 (GRCm39)		probably null	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rasal1	G	A	5: 120,800,358 (GRCm39)	G207D	probably damaging	Het
Rdx	A	G	9: 51,974,878 (GRCm39)	I5V	probably benign	Het
Rpf1	A	G	3: 146,223,533 (GRCm39)	I105T	probably damaging	Het
Rps15a	A	T	7: 117,709,220 (GRCm39)	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,233,641 (GRCm39)	P153L	probably benign	Het
Scaf11	G	A	15: 96,318,298 (GRCm39)	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,082,403 (GRCm39)	E287V	possibly damaging	Het
Sgta	T	C	10: 80,887,118 (GRCm39)	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,025,358 (GRCm39)	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,319,671 (GRCm39)	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,499,145 (GRCm39)	S151T	probably benign	Het
Slc4a8	C	A	15: 100,681,721 (GRCm39)	H111N	probably damaging	Het
Syngr1	G	A	15: 79,975,659 (GRCm39)	R22K	probably benign	Het
Tars2	A	T	3: 95,662,077 (GRCm39)	V25E	probably benign	Het
Tbx15	A	G	3: 99,259,647 (GRCm39)	Y506C	probably damaging	Het
Tgm4	A	T	9: 122,875,634 (GRCm39)	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,255,439 (GRCm39)	E83G	probably damaging	Het
Trp73	G	A	4: 154,165,859 (GRCm39)	T118I	probably damaging	Het
Trpm7	A	G	2: 126,664,578 (GRCm39)	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,729 (GRCm39)	S330L	probably benign	Het
Tub	A	C	7: 108,624,845 (GRCm39)	D199A	probably benign	Het
Uri1	A	C	7: 37,696,110 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,276,120 (GRCm39)	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,136,526 (GRCm39)	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,620,797 (GRCm39)	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,339,773 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 53,001,892 (GRCm39)	D118G	probably damaging	Het
Zfp111	G	A	7: 23,898,067 (GRCm39)	P516S	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
R7449:Grm4	UTSW	17	27,654,345 (GRCm39)	missense	probably damaging	1.00
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
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'- ATACCCTGCAACTGCGTAG -3'
(R):5'- AGGGTTCAAATCAGGAGGCC -3'

Sequencing Primer
(F):5'- GACCTTTATACATAGCCCAGGC -3'
(R):5'- AGGAGGCCTGGCTGTGC -3'

Posted On

2022-11-14