Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Grm4'

214727

Institutional Source

Beutler Lab

Gene Symbol

Grm4

Ensembl Gene

ENSMUSG00000063239

Gene Name

glutamate receptor, metabotropic 4

Synonyms

Gprc1d, mGluR4

MMRRC Submission

039932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27641361-27732800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27653686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 755 (C755S)

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: C755S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113819
Gene: ENSMUSG00000063239
AA Change: C755S

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: C755S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112578
Gene: ENSMUSG00000063239
AA Change: C755S

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: C755S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231416
AA Change: C500S

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231804

Predicted Effect

probably damaging
Transcript: ENSMUST00000231809
AA Change: C708S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000232243

Meta Mutation Damage Score

0.0999

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,386 (GRCm39)	V618E	possibly damaging	Het
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Akap12	G	A	10: 4,306,685 (GRCm39)	R1165H	probably benign	Het
Asxl1	T	C	2: 153,243,826 (GRCm39)	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,176,225 (GRCm39)	R1957C	probably damaging	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Capn15	C	A	17: 26,183,837 (GRCm39)	A215S	probably benign	Het
Casz1	T	C	4: 149,017,415 (GRCm39)	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,794,134 (GRCm39)		probably benign	Het
Cdh23	A	G	10: 60,159,349 (GRCm39)	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep104	T	C	4: 154,074,296 (GRCm39)	L516P	possibly damaging	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Diaph3	A	C	14: 86,893,921 (GRCm39)	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Ephb1	C	T	9: 101,806,577 (GRCm39)	C819Y	probably damaging	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988 (GRCm38)	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,609,537 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gas6	T	C	8: 13,527,152 (GRCm39)	T199A	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Hdgfl2	A	G	17: 56,403,978 (GRCm39)	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,952,250 (GRCm39)	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Ing1	T	A	8: 11,611,577 (GRCm39)	V63E	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Klf5	T	C	14: 99,539,357 (GRCm39)	S177P	probably benign	Het
Lats1	T	A	10: 7,586,221 (GRCm39)		probably benign	Het
Lilrb4a	A	G	10: 51,368,045 (GRCm39)	I53M	probably benign	Het
Lrrc2	T	A	9: 110,810,007 (GRCm39)	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Med25	A	G	7: 44,534,046 (GRCm39)	S245P	probably benign	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Naip6	T	A	13: 100,435,936 (GRCm39)	E862D	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nyap2	T	C	1: 81,169,602 (GRCm39)	S120P	probably damaging	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Pappa2	A	T	1: 158,578,133 (GRCm39)	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,144,141 (GRCm39)		probably null	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rabggta	A	T	14: 55,958,646 (GRCm39)	F62L	possibly damaging	Het
Rasal3	G	A	17: 32,615,324 (GRCm39)	Q505*	probably null	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Scn9a	A	G	2: 66,396,594 (GRCm39)	F100L	probably damaging	Het
Siglece	A	G	7: 43,307,219 (GRCm39)	V256A	probably benign	Het
Slc23a2	A	T	2: 131,898,686 (GRCm39)	L617Q	probably damaging	Het
Snx9	T	C	17: 5,978,531 (GRCm39)	I567T	possibly damaging	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tbl1xr1	T	C	3: 22,245,074 (GRCm39)		probably benign	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,722,670 (GRCm39)	D105E	probably benign	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,499,286 (GRCm39)	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	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
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'- TTTAAAGAAAGCAGCTACAGGC -3'
(R):5'- ATCTTTGAGCAGGGCAAGCG -3'

Sequencing Primer
(F):5'- ACACGGCCATGTTCCCTGAC -3'
(R):5'- ACGGTTCATCAGCCCCG -3'

Posted On

2014-07-14