Mutagenetix > Incidental Mutation

Incidental Mutation 'R2333:Grm1'

246504

Institutional Source

Beutler Lab

Gene Symbol

Grm1

Ensembl Gene

ENSMUSG00000019828

Gene Name

glutamate receptor, metabotropic 1

Synonyms

4930455H15Rik, Grm1, mGluR1, rcw, nmf373, Gprc1a

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.483) question?

Stock #

R2333 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10561803-10958100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10595363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 755 (A755V)

Ref Sequence

ENSEMBL: ENSMUSP00000101190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]

AlphaFold

P97772

Predicted Effect

probably benign
Transcript: ENSMUST00000044306
AA Change: A755V

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: A755V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	77	485	1.1e-94	PFAM
Pfam:Peripla_BP_6	151	340	1.4e-10	PFAM
Pfam:NCD3G	521	571	5.5e-16	PFAM
Pfam:7tm_3	604	837	2.4e-55	PFAM
low complexity region	969	975	N/A	INTRINSIC
low complexity region	983	993	N/A	INTRINSIC
low complexity region	1013	1033	N/A	INTRINSIC
low complexity region	1071	1088	N/A	INTRINSIC
low complexity region	1093	1109	N/A	INTRINSIC
low complexity region	1126	1136	N/A	INTRINSIC
GluR_Homer-bdg	1149	1199	6.85e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105560
AA Change: A755V

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: A755V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	77	485	2e-92	PFAM
Pfam:Peripla_BP_6	152	347	2.7e-12	PFAM
Pfam:NCD3G	520	571	2.7e-19	PFAM
Pfam:7tm_3	602	838	3.2e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105561
AA Change: A755V

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: A755V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	77	485	2e-92	PFAM
Pfam:Peripla_BP_6	152	347	2.7e-12	PFAM
Pfam:NCD3G	520	571	2.7e-19	PFAM
Pfam:7tm_3	602	838	3.2e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155772

Coding Region Coverage

1x: 99.0%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. 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 canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for null mutations show impairements in motor coordination, spatial learning, hippocampal mossy fiber long-term potentiation, and cerebellar long-term depression. Homozygotes for a spontaneous mutation are small and exhibit ataxia, kyphoscoliosis, albuminuria and glomerular damage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Brd4	C	T	17: 32,440,431 (GRCm39)	D302N	probably damaging	Het
Celsr2	T	C	3: 108,305,921 (GRCm39)	N2061S	probably benign	Het
Col1a2	A	T	6: 4,532,747 (GRCm39)	M791L	unknown	Het
Dmxl1	A	G	18: 50,053,043 (GRCm39)		probably null	Het
Elp1	A	G	4: 56,775,456 (GRCm39)	V701A	probably benign	Het
Ltbp4	C	T	7: 27,027,203 (GRCm39)	R389Q	possibly damaging	Het
Naip5	A	G	13: 100,359,679 (GRCm39)	I519T	probably damaging	Het
Resf1	T	A	6: 149,229,009 (GRCm39)	I685K	probably damaging	Het
Tmem100	A	G	11: 89,926,424 (GRCm39)	I84V	probably benign	Het
Tnik	C	T	3: 28,587,145 (GRCm39)	R139W	probably damaging	Het
Vmn1r203	A	G	13: 22,709,113 (GRCm39)	D298G	probably damaging	Het
Zfp324	A	G	7: 12,705,172 (GRCm39)	T454A	possibly damaging	Het

Other mutations in Grm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Grm1	APN	10	10,595,783 (GRCm39)	missense	probably benign	0.01
IGL02078:Grm1	APN	10	10,565,354 (GRCm39)	missense	probably benign	0.02
IGL02156:Grm1	APN	10	10,595,720 (GRCm39)	missense	probably damaging	0.99
IGL02476:Grm1	APN	10	10,565,197 (GRCm39)	missense	probably benign	0.29
IGL02498:Grm1	APN	10	10,595,723 (GRCm39)	missense	probably damaging	1.00
IGL02621:Grm1	APN	10	10,564,755 (GRCm39)	nonsense	probably null
IGL03192:Grm1	APN	10	10,955,660 (GRCm39)	missense	possibly damaging	0.66
IGL03342:Grm1	APN	10	10,955,715 (GRCm39)	missense	probably benign	0.08
dewey	UTSW	10	10,595,339 (GRCm39)	missense	probably damaging	1.00
Dingus	UTSW	10	10,595,711 (GRCm39)	missense	probably benign	0.06
donald	UTSW	10	10,617,252 (GRCm39)	nonsense	probably null
jim	UTSW	10	10,595,549 (GRCm39)	missense	probably damaging	1.00
lightness	UTSW	10	10,955,702 (GRCm39)	missense	probably damaging	1.00
IGL02796:Grm1	UTSW	10	10,565,411 (GRCm39)	missense	probably benign
R0294:Grm1	UTSW	10	10,956,143 (GRCm39)	missense	probably damaging	1.00
R0525:Grm1	UTSW	10	10,594,953 (GRCm39)	splice site	probably benign
R0554:Grm1	UTSW	10	10,595,667 (GRCm39)	missense	probably benign	0.01
R1184:Grm1	UTSW	10	10,595,778 (GRCm39)	missense	probably benign	0.40
R1319:Grm1	UTSW	10	10,565,142 (GRCm39)	missense	probably benign	0.05
R1403:Grm1	UTSW	10	10,955,879 (GRCm39)	missense	probably benign	0.00
R1403:Grm1	UTSW	10	10,955,879 (GRCm39)	missense	probably benign	0.00
R1467:Grm1	UTSW	10	10,595,702 (GRCm39)	missense	probably damaging	1.00
R1467:Grm1	UTSW	10	10,595,702 (GRCm39)	missense	probably damaging	1.00
R1494:Grm1	UTSW	10	10,565,450 (GRCm39)	missense	probably benign	0.04
R1589:Grm1	UTSW	10	10,595,711 (GRCm39)	missense	probably benign	0.06
R1615:Grm1	UTSW	10	10,617,252 (GRCm39)	nonsense	probably null
R1720:Grm1	UTSW	10	10,622,538 (GRCm39)	splice site	probably null
R1738:Grm1	UTSW	10	10,812,163 (GRCm39)	missense	probably damaging	1.00
R1763:Grm1	UTSW	10	10,955,610 (GRCm39)	missense	possibly damaging	0.47
R1774:Grm1	UTSW	10	10,955,610 (GRCm39)	missense	possibly damaging	0.47
R2041:Grm1	UTSW	10	10,622,347 (GRCm39)	missense	probably damaging	0.98
R2092:Grm1	UTSW	10	10,564,969 (GRCm39)	missense	probably benign	0.00
R2198:Grm1	UTSW	10	10,658,520 (GRCm39)	missense	probably damaging	1.00
R2297:Grm1	UTSW	10	10,956,158 (GRCm39)	missense	probably benign	0.03
R2333:Grm1	UTSW	10	10,595,090 (GRCm39)	missense	probably damaging	0.98
R2914:Grm1	UTSW	10	10,955,601 (GRCm39)	missense	probably benign	0.07
R3105:Grm1	UTSW	10	10,955,601 (GRCm39)	missense	probably benign	0.07
R3106:Grm1	UTSW	10	10,955,601 (GRCm39)	missense	probably benign	0.07
R3705:Grm1	UTSW	10	10,658,473 (GRCm39)	missense	possibly damaging	0.95
R3931:Grm1	UTSW	10	10,595,622 (GRCm39)	missense	probably benign	0.44
R4810:Grm1	UTSW	10	10,658,438 (GRCm39)	missense	probably damaging	1.00
R4892:Grm1	UTSW	10	10,595,331 (GRCm39)	missense	possibly damaging	0.81
R4938:Grm1	UTSW	10	10,812,257 (GRCm39)	missense	probably damaging	1.00
R4947:Grm1	UTSW	10	10,658,377 (GRCm39)	missense	probably damaging	1.00
R4966:Grm1	UTSW	10	10,595,409 (GRCm39)	nonsense	probably null
R5152:Grm1	UTSW	10	10,955,619 (GRCm39)	missense	probably benign	0.13
R5283:Grm1	UTSW	10	10,608,936 (GRCm39)	missense	possibly damaging	0.70
R5317:Grm1	UTSW	10	10,622,443 (GRCm39)	missense	possibly damaging	0.77
R5374:Grm1	UTSW	10	10,956,186 (GRCm39)	missense	probably benign	0.14
R5428:Grm1	UTSW	10	10,595,307 (GRCm39)	missense	probably damaging	1.00
R5604:Grm1	UTSW	10	10,622,479 (GRCm39)	missense	probably damaging	1.00
R5894:Grm1	UTSW	10	10,955,999 (GRCm39)	missense	probably damaging	1.00
R5896:Grm1	UTSW	10	10,956,294 (GRCm39)	utr 5 prime	probably benign
R5899:Grm1	UTSW	10	10,565,092 (GRCm39)	missense	probably benign
R6032:Grm1	UTSW	10	10,595,549 (GRCm39)	missense	probably damaging	1.00
R6032:Grm1	UTSW	10	10,595,549 (GRCm39)	missense	probably damaging	1.00
R6139:Grm1	UTSW	10	10,622,075 (GRCm39)	intron	probably benign
R6144:Grm1	UTSW	10	10,955,640 (GRCm39)	missense	probably benign	0.08
R6208:Grm1	UTSW	10	10,595,690 (GRCm39)	missense	probably damaging	1.00
R6976:Grm1	UTSW	10	10,564,924 (GRCm39)	missense	probably benign	0.00
R7027:Grm1	UTSW	10	10,595,339 (GRCm39)	missense	probably damaging	1.00
R7079:Grm1	UTSW	10	10,955,702 (GRCm39)	missense	probably damaging	1.00
R7286:Grm1	UTSW	10	10,565,440 (GRCm39)	missense	probably benign	0.19
R7352:Grm1	UTSW	10	10,595,237 (GRCm39)	missense	probably damaging	1.00
R7484:Grm1	UTSW	10	10,622,403 (GRCm39)	missense	probably benign	0.06
R7838:Grm1	UTSW	10	10,956,096 (GRCm39)	missense	probably benign	0.02
R8108:Grm1	UTSW	10	10,595,876 (GRCm39)	missense	probably benign	0.01
R8379:Grm1	UTSW	10	10,564,879 (GRCm39)	missense	possibly damaging	0.86
R8498:Grm1	UTSW	10	10,955,605 (GRCm39)	nonsense	probably null
R8712:Grm1	UTSW	10	10,565,296 (GRCm39)	missense	probably benign	0.34
R8856:Grm1	UTSW	10	10,595,092 (GRCm39)	missense	probably damaging	1.00
R8904:Grm1	UTSW	10	10,595,281 (GRCm39)	missense	probably damaging	1.00
R9043:Grm1	UTSW	10	10,565,056 (GRCm39)	nonsense	probably null
R9477:Grm1	UTSW	10	10,595,405 (GRCm39)	missense	probably benign	0.15
R9674:Grm1	UTSW	10	10,609,028 (GRCm39)	missense	possibly damaging	0.91
R9685:Grm1	UTSW	10	10,564,775 (GRCm39)	missense	possibly damaging	0.91
R9777:Grm1	UTSW	10	10,573,826 (GRCm39)	missense	possibly damaging	0.92
X0002:Grm1	UTSW	10	10,812,257 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTGATAATCTTGTAGTTGCTCCC -3'
(R):5'- TATTGCACGCATCCTGGCTG -3'

Sequencing Primer
(F):5'- GTAGTTGCTCCCAAAGTAAATGG -3'
(R):5'- GAAGATCTGTACCCGGAAGCC -3'

Posted On

2014-10-30