Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03192:Grm1'

412673

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03192

Quality Score

Status

Chromosome

Chromosomal Location

10561803-10958100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10955660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 208 (D208G)

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: D208G

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: D208G

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: D208G

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: D208G

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: D208G

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: D208G

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: ENSMUST00000156826

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	G	A	3: 137,933,721 (GRCm39)	G293S	probably damaging	Het
Ahi1	G	A	10: 20,841,534 (GRCm39)	V274I	probably benign	Het
Arfip2	C	T	7: 105,287,150 (GRCm39)	R138H	probably damaging	Het
Asb8	G	A	15: 98,033,776 (GRCm39)	R260C	possibly damaging	Het
Cfh	A	T	1: 140,026,759 (GRCm39)	H531Q	possibly damaging	Het
Clcn7	C	A	17: 25,352,575 (GRCm39)	P42Q	probably benign	Het
Cxcr6	G	T	9: 123,639,111 (GRCm39)	K37N	possibly damaging	Het
Fndc3c1	C	T	X: 105,479,922 (GRCm39)		probably null	Het
Gramd1b	A	T	9: 40,218,097 (GRCm39)	L429H	probably damaging	Het
H2-T24	C	T	17: 36,326,368 (GRCm39)	W177*	probably null	Het
Il17rc	G	A	6: 113,449,846 (GRCm39)	V151M	probably damaging	Het
Magi3	A	G	3: 103,950,562 (GRCm39)	F741S	probably damaging	Het
Neil1	A	G	9: 57,050,819 (GRCm39)	S339P	probably benign	Het
Nptx1	T	A	11: 119,437,585 (GRCm39)	N182I	probably benign	Het
Or3a1c	T	A	11: 74,046,076 (GRCm39)	I32K	probably benign	Het
Phtf2	A	G	5: 20,966,717 (GRCm39)	V723A	probably damaging	Het
Rbp3	G	T	14: 33,680,540 (GRCm39)	M1047I	possibly damaging	Het
Rhobtb1	A	G	10: 69,084,653 (GRCm39)	I15V	probably damaging	Het
Rtbdn	T	A	8: 85,679,284 (GRCm39)	S30T	probably benign	Het
Serinc4	G	T	2: 121,282,872 (GRCm39)	S430*	probably null	Het
Slc25a33	A	G	4: 149,829,223 (GRCm39)	I312T	probably damaging	Het
Speer3	A	G	5: 13,841,702 (GRCm39)	R11G	possibly damaging	Het
Tbc1d5	A	G	17: 51,291,709 (GRCm39)		probably benign	Het
Unc93a	A	T	17: 13,335,073 (GRCm39)	Y324*	probably null	Het
Wdr31	A	T	4: 62,372,149 (GRCm39)	D322E	possibly damaging	Het
Zbtb9	A	G	17: 27,193,272 (GRCm39)	T226A	probably benign	Het
Zfyve16	T	C	13: 92,657,748 (GRCm39)	E721G	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
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
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

Posted On

2016-08-02