Mutagenetix > Incidental Mutations

Incidental Mutation 'R1440:Grm3'

160918

Institutional Source

Beutler Lab

Gene Symbol

Grm3

Ensembl Gene

ENSMUSG00000003974

Gene Name

glutamate receptor, metabotropic 3

Synonyms

Gprc1c, mGlu3, mGluR3, 0710001G23Rik

MMRRC Submission

039495-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1440 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9485541-9725170 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 9589958 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 29 (M29R)

Ref Sequence

ENSEMBL: ENSMUSP00000004076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004076]

Predicted Effect

probably benign
Transcript: ENSMUST00000004076
AA Change: M29R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004076
Gene: ENSMUSG00000003974
AA Change: M29R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	67	473	4.8e-102	PFAM
Pfam:NCD3G	505	555	2.4e-14	PFAM
Pfam:7tm_3	588	825	4.7e-62	PFAM
low complexity region	849	861	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.7%

Validation Efficiency

95% (94/99)

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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a knock-out allele exhibit altered neuroprotection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	G	12: 72,881,421	N512T	possibly damaging	Het
Aadacl2	A	T	3: 60,024,892	H276L	probably damaging	Het
Adam12	G	A	7: 133,931,814	T445M	probably benign	Het
Ash2l	A	T	8: 25,827,378	F290L	probably benign	Het
Asxl3	C	T	18: 22,525,224	P2097L	probably benign	Het
Atmin	A	G	8: 116,957,376	I592V	probably damaging	Het
Atxn2	T	C	5: 121,803,082		probably null	Het
BC004004	T	C	17: 29,296,691		probably null	Het
Cacna1e	T	C	1: 154,561,806	N328S	possibly damaging	Het
Cacna2d1	A	T	5: 16,355,495	K765I	probably damaging	Het
Cc2d1a	A	G	8: 84,133,975		probably null	Het
Ccdc28b	A	G	4: 129,620,615	V198A	probably benign	Het
Ces1b	G	T	8: 93,068,108	R288S	probably damaging	Het
Cfap100	T	G	6: 90,412,184	T198P	probably benign	Het
Clint1	T	C	11: 45,890,783	S227P	probably damaging	Het
Cntn5	C	A	9: 10,145,339	C122F	probably damaging	Het
Col3a1	A	G	1: 45,343,312		probably null	Het
Cyp4a10	A	C	4: 115,529,449	D431A	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,550,734		probably null	Het
Dlc1	A	T	8: 36,593,463		probably benign	Het
Dlgap2	T	C	8: 14,727,060	S102P	probably benign	Het
Dnah7b	G	A	1: 46,078,593		probably benign	Het
Dock10	A	C	1: 80,549,136	S1124A	probably benign	Het
Dscam	C	T	16: 96,819,951	R519H	probably damaging	Het
Efcab3	A	T	11: 105,108,755		probably benign	Het
Evi2a	G	T	11: 79,527,270	N171K	probably damaging	Het
Fbxl15	T	C	19: 46,330,245	L286P	probably damaging	Het
Fpr1	T	A	17: 17,877,263	I155F	probably benign	Het
Gcat	C	T	15: 79,033,994	A84V	probably null	Het
Gls	A	G	1: 52,191,134	F473L	possibly damaging	Het
Gnat1	T	C	9: 107,676,965	D169G	probably damaging	Het
Herc1	A	T	9: 66,467,803	D3303V	probably damaging	Het
Ibsp	G	A	5: 104,310,539	G314D	unknown	Het
Lgr6	C	A	1: 134,987,472	A513S	probably damaging	Het
Lrmp	C	T	6: 145,174,511	T484M	possibly damaging	Het
Lrriq4	T	A	3: 30,650,761	C313S	probably damaging	Het
March10	G	T	11: 105,390,583	T292K	probably damaging	Het
Mcoln2	C	A	3: 146,190,382	Y6*	probably null	Het
Mup4	A	G	4: 59,958,076	I164T	probably damaging	Het
Myo1b	T	C	1: 51,778,558		probably benign	Het
Ncam1	A	G	9: 49,544,800	I506T	probably damaging	Het
Notch1	A	T	2: 26,480,964		probably benign	Het
Nr4a3	A	T	4: 48,051,777	Q177L	probably benign	Het
Nsun4	A	G	4: 116,052,950	S138P	possibly damaging	Het
Olfr11	G	T	13: 21,639,390	N44K	probably benign	Het
Olfr403	A	G	11: 74,195,679	M59V	probably damaging	Het
Olfr716	A	T	7: 107,148,198	N294I	probably damaging	Het
Olfr729	T	C	14: 50,148,358	N172S	probably damaging	Het
Pagr1a	A	T	7: 127,016,297		probably benign	Het
Pcdhb2	A	T	18: 37,296,290	I82L	probably benign	Het
Pds5b	A	T	5: 150,754,417	N500I	probably damaging	Het
Pik3r6	A	T	11: 68,531,445	E223D	possibly damaging	Het
Pkhd1l1	A	T	15: 44,540,988		probably benign	Het
Prex1	T	C	2: 166,580,463	D1204G	probably damaging	Het
Prickle1	C	T	15: 93,505,074	E244K	possibly damaging	Het
Ptprd	A	T	4: 76,084,552	V211E	probably damaging	Het
Rad51d	G	A	11: 82,890,353	R23*	probably null	Het
Rapgef6	G	A	11: 54,626,708	G262R	probably damaging	Het
Reln	A	G	5: 22,128,602		probably benign	Het
Rev1	T	C	1: 38,088,205	T325A	probably damaging	Het
Rnd3	T	A	2: 51,132,506	I175L	probably benign	Het
Rp1	C	A	1: 4,347,396	L1164F	probably damaging	Het
S100a7a	T	C	3: 90,655,635	V43A	probably benign	Het
Scaper	A	C	9: 55,602,918	Y1104*	probably null	Het
Scn2a	T	A	2: 65,764,594	V1929D	probably benign	Het
Scn3a	T	C	2: 65,529,441	N141S	possibly damaging	Het
Slc12a7	T	G	13: 73,801,008	L718R	probably damaging	Het
Slc15a2	T	C	16: 36,784,643		probably benign	Het
Slc35b3	G	A	13: 38,954,134	Q100*	probably null	Het
Slc9a5	T	A	8: 105,355,153	V170E	possibly damaging	Het
Snx5	T	G	2: 144,254,811	K278T	possibly damaging	Het
Sorbs2	T	C	8: 45,789,963		probably benign	Het
Stab1	C	T	14: 31,151,690	W1008*	probably null	Het
Stab2	C	T	10: 86,861,367		probably null	Het
Tacc3	A	G	5: 33,667,977	E377G	probably benign	Het
Tango6	T	C	8: 106,689,039	L164P	probably damaging	Het
Tbc1d12	T	A	19: 38,914,352	S570T	possibly damaging	Het
Thbs1	T	C	2: 118,114,355	F217L	probably damaging	Het
Tmbim6	T	A	15: 99,402,123	V40E	probably damaging	Het
Tmigd1	A	T	11: 76,910,160	N158Y	probably damaging	Het
Top3b	C	T	16: 16,892,777	R824*	probably null	Het
Tram1l1	A	T	3: 124,321,931	K247*	probably null	Het
Tsc2	T	C	17: 24,614,392	Y686C	probably damaging	Het
Tsga10	T	C	1: 37,819,599	Q218R	probably damaging	Het
Uba6	G	T	5: 86,140,423	A439D	probably damaging	Het
Ubn1	C	A	16: 5,077,294	P735T	probably damaging	Het
Usp40	A	G	1: 87,982,086	S549P	probably benign	Het
Utp20	T	C	10: 88,819,339	T176A	probably benign	Het
Utp4	T	G	8: 106,898,053		probably benign	Het
Xpo5	C	T	17: 46,207,927		probably benign	Het
Zfp979	A	T	4: 147,614,036	I72K	possibly damaging	Het

Other mutations in Grm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Grm3	APN	5	9512290	missense	probably benign
IGL01393:Grm3	APN	5	9589856	missense	probably benign	0.00
IGL01398:Grm3	APN	5	9485762	unclassified	probably benign
IGL01825:Grm3	APN	5	9511600	missense	probably damaging	1.00
IGL01966:Grm3	APN	5	9511486	missense	probably damaging	0.98
IGL02367:Grm3	APN	5	9511660	missense	probably damaging	1.00
IGL02526:Grm3	APN	5	9589847	missense	probably damaging	1.00
IGL02972:Grm3	APN	5	9512410	missense	probably damaging	1.00
IGL03356:Grm3	APN	5	9512206	missense	possibly damaging	0.89
BB002:Grm3	UTSW	5	9589880	missense	probably benign	0.09
BB012:Grm3	UTSW	5	9589880	missense	probably benign	0.09
R0032:Grm3	UTSW	5	9511452	splice site	probably null
R0032:Grm3	UTSW	5	9511452	splice site	probably null
R0389:Grm3	UTSW	5	9504794	missense	probably damaging	1.00
R0455:Grm3	UTSW	5	9512477	missense	probably benign
R0538:Grm3	UTSW	5	9512446	missense	possibly damaging	0.95
R0553:Grm3	UTSW	5	9570048	missense	probably benign	0.16
R1124:Grm3	UTSW	5	9570297	missense	probably benign
R1163:Grm3	UTSW	5	9570738	missense	probably benign	0.34
R1635:Grm3	UTSW	5	9511520	missense	probably damaging	1.00
R1734:Grm3	UTSW	5	9589742	missense	probably benign	0.00
R1895:Grm3	UTSW	5	9512123	missense	probably damaging	1.00
R1926:Grm3	UTSW	5	9504881	missense	probably damaging	0.98
R1940:Grm3	UTSW	5	9511682	missense	probably damaging	1.00
R1946:Grm3	UTSW	5	9512123	missense	probably damaging	1.00
R2004:Grm3	UTSW	5	9589793	missense	possibly damaging	0.57
R2005:Grm3	UTSW	5	9589793	missense	possibly damaging	0.57
R2006:Grm3	UTSW	5	9589793	missense	possibly damaging	0.57
R3116:Grm3	UTSW	5	9570752	missense	probably damaging	1.00
R4083:Grm3	UTSW	5	9512054	missense	probably benign
R4537:Grm3	UTSW	5	9512083	missense	probably benign	0.02
R4855:Grm3	UTSW	5	9570047	missense	probably damaging	0.98
R5060:Grm3	UTSW	5	9570167	missense	probably damaging	0.99
R5093:Grm3	UTSW	5	9589766	missense	probably benign	0.01
R5419:Grm3	UTSW	5	9570233	missense	probably damaging	1.00
R5525:Grm3	UTSW	5	9504872	missense	probably damaging	1.00
R5642:Grm3	UTSW	5	9570536	missense	probably benign	0.21
R5804:Grm3	UTSW	5	9570155	missense	probably benign	0.33
R5915:Grm3	UTSW	5	9511927	missense	probably damaging	1.00
R5966:Grm3	UTSW	5	9511930	missense	probably damaging	0.98
R6151:Grm3	UTSW	5	9511556	missense	probably damaging	1.00
R6419:Grm3	UTSW	5	9570201	missense	probably damaging	1.00
R7267:Grm3	UTSW	5	9589581	missense	probably benign	0.00
R7555:Grm3	UTSW	5	9570000	missense	probably benign	0.00
R7657:Grm3	UTSW	5	9511452	splice site	probably null
R7925:Grm3	UTSW	5	9589880	missense	probably benign	0.09
R8032:Grm3	UTSW	5	9512272	missense	probably benign	0.11
R8227:Grm3	UTSW	5	9570242	missense	possibly damaging	0.65
R8462:Grm3	UTSW	5	9512365	missense	probably benign
R8500:Grm3	UTSW	5	9511726	missense	probably benign	0.21
X0020:Grm3	UTSW	5	9512195	missense	probably damaging	1.00
X0025:Grm3	UTSW	5	9485790	missense	probably damaging	1.00
X0026:Grm3	UTSW	5	9512238	nonsense	probably null
Z1088:Grm3	UTSW	5	9570183	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACCGCCAATGACTCCTGCAATG -3'
(R):5'- GTGACGGGCTCTTTTAGCCCTATC -3'

Sequencing Primer
(F):5'- CCAGTGACTGCTCTAATGCATAG -3'
(R):5'- ATCCTCCCTTATCTGAAGGACAG -3'

Posted On

2014-03-14