Mutagenetix > Incidental Mutation

Incidental Mutation 'R5317:Grm1'

405880

Institutional Source

Beutler Lab

Gene Symbol

Grm1

Ensembl Gene

ENSMUSG00000019828

Gene Name

glutamate receptor, metabotropic 1

Synonyms

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

MMRRC Submission

042900-MU

Accession Numbers

Essential gene?

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

Stock #

R5317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10561803-10958100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 10622443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 427 (M427L)

Ref Sequence

ENSEMBL: ENSMUSP00000101190 (fasta)

Gene Model

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

AlphaFold

P97772

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044306
AA Change: M427L

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: M427L

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

possibly damaging
Transcript: ENSMUST00000105560
AA Change: M427L

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: M427L

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

possibly damaging
Transcript: ENSMUST00000105561
AA Change: M427L

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: M427L

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: ENSMUST00000135120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220270

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arih1	A	C	9: 59,300,619 (GRCm39)	H542Q	probably benign	Het
Ccn4	T	G	15: 66,789,131 (GRCm39)	S206A	probably benign	Het
Cnot8	T	C	11: 58,004,029 (GRCm39)	S155P	probably damaging	Het
Dcc	C	T	18: 71,517,226 (GRCm39)	E810K	possibly damaging	Het
Dmrt2	T	C	19: 25,650,844 (GRCm39)	V10A	probably benign	Het
Dnah17	G	A	11: 118,018,109 (GRCm39)	R129W	possibly damaging	Het
Eif4a3	G	T	11: 119,185,490 (GRCm39)	H117N	probably damaging	Het
Fhip2a	T	A	19: 57,370,141 (GRCm39)		probably null	Het
Gpr179	T	A	11: 97,228,671 (GRCm39)	Q1161H	probably damaging	Het
Grxcr2	T	A	18: 42,131,916 (GRCm39)	H51L	probably damaging	Het
Il1rn	C	T	2: 24,239,554 (GRCm39)	T150I	probably benign	Het
Kcnc4	C	T	3: 107,366,055 (GRCm39)	R51H	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lrrc37	T	C	11: 103,504,971 (GRCm39)	I2332M	possibly damaging	Het
Mcm9	G	A	10: 53,414,330 (GRCm39)	P250L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pan3	T	C	5: 147,480,020 (GRCm39)		probably null	Het
Pcdhgb7	T	A	18: 37,885,887 (GRCm39)	D352E	probably benign	Het
Pdgfa	A	G	5: 138,974,102 (GRCm39)		probably null	Het
Pkhd1	T	C	1: 20,520,528 (GRCm39)	D1938G	probably damaging	Het
Plac8	C	T	5: 100,704,345 (GRCm39)		probably null	Het
Rab11fip3	T	C	17: 26,287,052 (GRCm39)	E367G	possibly damaging	Het
Sgo2a	C	T	1: 58,054,683 (GRCm39)	P289L	probably benign	Het
Slc22a18	T	C	7: 143,052,896 (GRCm39)	Y374H	probably damaging	Het
Slco2a1	T	C	9: 102,956,778 (GRCm39)	V530A	probably benign	Het
Spty2d1	A	T	7: 46,648,049 (GRCm39)	S293R	possibly damaging	Het
Stt3b	G	T	9: 115,081,578 (GRCm39)	Y569*	probably null	Het
Tas2r140	A	G	6: 133,032,543 (GRCm39)	Y72H	probably benign	Het
Usp35	C	T	7: 96,960,846 (GRCm39)	R860H	probably damaging	Het
Vmn2r130	T	A	17: 23,282,557 (GRCm39)	M79K	probably benign	Het
Vsig10l	T	C	7: 43,114,247 (GRCm39)	S190P	probably damaging	Het
Wwc2	C	T	8: 48,300,590 (GRCm39)	D958N	unknown	Het
Zfp318	AAGAAGG	A	17: 46,723,463 (GRCm39)		probably benign	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	10,595,363 (GRCm39)	missense	probably benign	0.31
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
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'- GCTCAGGGTTCAAGGGATAC -3'
(R):5'- CAATGTCATGATCCCTGTCAGTG -3'

Sequencing Primer
(F):5'- GAGGAAATCCAGGAGCTT -3'
(R):5'- GTGTCTAAGCCCCTGAAGTCAATG -3'

Posted On

2016-07-22