Mutagenetix > Incidental Mutation

Incidental Mutation 'R0616:Grm4'

58363

Institutional Source

Beutler Lab

Gene Symbol

Grm4

Ensembl Gene

ENSMUSG00000063239

Gene Name

glutamate receptor, metabotropic 4

Synonyms

Gprc1d, mGluR4

MMRRC Submission

038805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27641361-27732800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27653538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 757 (I757N)

Ref Sequence

ENSEMBL: ENSMUSP00000156352 (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: I804N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113819
Gene: ENSMUSG00000063239
AA Change: I804N

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: I804N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112578
Gene: ENSMUSG00000063239
AA Change: I804N

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: I804N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231416
AA Change: I549N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231804

Predicted Effect

probably damaging
Transcript: ENSMUST00000231809
AA Change: I757N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000232243

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,341,830 (GRCm39)	Q1044K	probably damaging	Het
Abi3bp	A	T	16: 56,474,433 (GRCm39)	T723S	probably damaging	Het
Ackr3	G	A	1: 90,142,191 (GRCm39)	V217I	probably benign	Het
Acnat2	A	G	4: 49,380,269 (GRCm39)	S370P	probably damaging	Het
Arap1	A	G	7: 101,050,857 (GRCm39)	R1152G	possibly damaging	Het
Arhgap15	G	A	2: 44,006,729 (GRCm39)		probably null	Het
Arhgap5	C	T	12: 52,563,848 (GRCm39)	T273I	possibly damaging	Het
Armh4	G	T	14: 50,011,113 (GRCm39)	T198K	possibly damaging	Het
C1s2	T	C	6: 124,605,723 (GRCm39)	E332G	probably damaging	Het
Camp	G	A	9: 109,677,707 (GRCm39)	R88W	probably benign	Het
Cdkl2	A	G	5: 92,156,863 (GRCm39)	M564T	probably benign	Het
Ceacam20	A	G	7: 19,704,321 (GRCm39)	H124R	probably benign	Het
Cep19	C	T	16: 31,922,829 (GRCm39)	R32C	probably damaging	Het
Cep295	G	A	9: 15,243,618 (GRCm39)	Q1565*	probably null	Het
Chd3	T	C	11: 69,236,313 (GRCm39)	E1932G	probably damaging	Het
Cibar1	G	A	4: 12,168,234 (GRCm39)	R210*	probably null	Het
Cnr2	G	T	4: 135,644,873 (GRCm39)	W317L	probably benign	Het
Cntnap5a	C	T	1: 116,508,279 (GRCm39)	H1264Y	possibly damaging	Het
Depdc7	T	A	2: 104,557,650 (GRCm39)	N200I	probably benign	Het
Dock4	T	C	12: 40,754,414 (GRCm39)	S468P	probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Fam217a	C	A	13: 35,097,666 (GRCm39)	S55I	probably benign	Het
Farp1	G	A	14: 121,514,434 (GRCm39)	R921H	probably damaging	Het
Fat4	A	G	3: 38,997,019 (GRCm39)	D1746G	probably damaging	Het
Fbxw5	T	C	2: 25,392,517 (GRCm39)	F100L	probably damaging	Het
Gli3	C	A	13: 15,836,991 (GRCm39)	T458K	possibly damaging	Het
Gm4841	T	C	18: 60,404,009 (GRCm39)	Y28C	probably benign	Het
Gprc5d	T	C	6: 135,093,430 (GRCm39)	E159G	probably benign	Het
Hagh	A	G	17: 25,076,551 (GRCm39)	Y94C	probably damaging	Het
Hycc1	T	C	5: 24,191,770 (GRCm39)	T44A	probably damaging	Het
Itpkb	T	C	1: 180,249,301 (GRCm39)	I892T	probably damaging	Het
Kcmf1	T	C	6: 72,827,467 (GRCm39)	I58V	probably benign	Het
Khdrbs2	A	G	1: 32,506,856 (GRCm39)	I167V	possibly damaging	Het
Kmt2c	A	G	5: 25,504,250 (GRCm39)	I275T	probably benign	Het
Lingo4	A	G	3: 94,310,388 (GRCm39)	K442R	probably benign	Het
Mak	T	C	13: 41,195,661 (GRCm39)	N382D	probably benign	Het
Maob	G	A	X: 16,576,402 (GRCm39)	T480I	possibly damaging	Het
Mcoln1	A	G	8: 3,565,025 (GRCm39)	E573G	probably benign	Het
Ms4a6b	G	A	19: 11,504,262 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,349,981 (GRCm39)	M576V	probably benign	Het
Nme8	T	A	13: 19,875,029 (GRCm39)	D126V	probably benign	Het
Npy2r	T	A	3: 82,448,670 (GRCm39)	D35V	possibly damaging	Het
Nrxn1	T	C	17: 90,670,285 (GRCm39)	D193G	probably damaging	Het
Or2g7	A	C	17: 38,378,131 (GRCm39)	E23A	probably damaging	Het
Or2y1e	T	C	11: 49,218,583 (GRCm39)	L115P	probably damaging	Het
Or4c10b	T	A	2: 89,711,935 (GRCm39)	V255E	probably benign	Het
Or4d5	A	T	9: 40,012,283 (GRCm39)	F168I	probably damaging	Het
Or52b4i	T	A	7: 102,191,761 (GRCm39)	M206K	possibly damaging	Het
Or6d14	A	G	6: 116,533,889 (GRCm39)	I168V	probably benign	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Or8c17	G	T	9: 38,180,630 (GRCm39)	V266L	probably benign	Het
Or8g18	G	A	9: 39,148,946 (GRCm39)	T258M	probably benign	Het
Pabpc2	A	T	18: 39,906,792 (GRCm39)	H19L	possibly damaging	Het
Pcdhb9	A	T	18: 37,535,028 (GRCm39)	K341*	probably null	Het
Pde4dip	T	C	3: 97,654,849 (GRCm39)	I859M	probably benign	Het
Pfkfb2	T	C	1: 130,634,159 (GRCm39)		probably null	Het
Pigg	C	T	5: 108,461,951 (GRCm39)	T94M	probably damaging	Het
Pik3c2b	T	C	1: 133,028,569 (GRCm39)	F1353L	probably damaging	Het
Prg4	T	C	1: 150,336,462 (GRCm39)	D87G	probably damaging	Het
Prkdc	A	T	16: 15,508,271 (GRCm39)	D974V	probably damaging	Het
Prmt3	A	G	7: 49,437,076 (GRCm39)	Y217C	probably damaging	Het
Proser1	A	G	3: 53,382,118 (GRCm39)	T192A	probably damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Rb1cc1	A	G	1: 6,314,486 (GRCm39)	K386R	possibly damaging	Het
Rcn2	A	G	9: 55,963,534 (GRCm39)	D221G	probably benign	Het
Rhbdl3	T	G	11: 80,222,687 (GRCm39)	H245Q	probably damaging	Het
Ribc1	T	C	X: 150,788,787 (GRCm39)	E204G	probably damaging	Het
Rpap1	G	A	2: 119,608,601 (GRCm39)	L254F	probably damaging	Het
Rrp12	A	G	19: 41,880,988 (GRCm39)	F148L	possibly damaging	Het
Rusf1	A	T	7: 127,871,803 (GRCm39)		probably null	Het
Setdb1	A	T	3: 95,249,109 (GRCm39)	I333K	probably damaging	Het
Simc1	A	G	13: 54,694,845 (GRCm39)	I1210V	probably benign	Het
Smchd1	T	A	17: 71,686,569 (GRCm39)	D1379V	probably benign	Het
Snap29	A	T	16: 17,240,370 (GRCm39)	K159*	probably null	Het
Spdye4c	A	T	2: 128,436,132 (GRCm39)	K176M	possibly damaging	Het
Stk31	T	A	6: 49,400,419 (GRCm39)	W415R	probably damaging	Het
Supt6	C	T	11: 78,100,321 (GRCm39)	R1497Q	probably damaging	Het
Tenm3	A	G	8: 48,729,191 (GRCm39)	I1605T	possibly damaging	Het
Ttn	T	C	2: 76,676,967 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,728,011 (GRCm39)		probably benign	Het
Ucp3	A	T	7: 100,129,368 (GRCm39)	T68S	probably benign	Het
Ugt2b36	T	C	5: 87,237,336 (GRCm39)	N316D	probably benign	Het
Usp4	T	G	9: 108,244,003 (GRCm39)	S247A	probably benign	Het
Utp20	A	T	10: 88,606,613 (GRCm39)	V1653D	probably benign	Het
Vmn1r183	A	G	7: 23,754,250 (GRCm39)	I18V	probably benign	Het
Vmn1r237	A	G	17: 21,534,885 (GRCm39)	M203V	probably damaging	Het
Vmn1r61	A	T	7: 5,613,998 (GRCm39)	F105L	possibly damaging	Het
Zfp462	T	C	4: 55,011,951 (GRCm39)	C158R	probably damaging	Het
Zfyve16	C	G	13: 92,657,637 (GRCm39)	R758P	probably 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
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
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'- GCCAAAAGCAATTTCTCAAGCTGCC -3'
(R):5'- CTCAAGTGTGACATCTCGGACCTG -3'

Sequencing Primer
(F):5'- GGTCATATACCCCAAGGGC -3'
(R):5'- GGACCTGTCGCTCATCTG -3'

Posted On

2013-07-11