Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02156:Grm1'

282249

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grm1

Ensembl Gene

ENSMUSG00000019828

Gene Name

glutamate receptor, metabotropic 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL02156

Quality Score

Status

Chromosome

Chromosomal Location

10686059-11082356 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10719976 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 636 (A636D)

Ref Sequence

ENSEMBL: ENSMUSP00000101190 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044306
AA Change: A636D

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

SMART Domains

Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: A636D

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 damaging
Transcript: ENSMUST00000105560
AA Change: A636D

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

SMART Domains

Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: A636D

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 damaging
Transcript: ENSMUST00000105561
AA Change: A636D

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

SMART Domains

Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: A636D

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,871,307		noncoding transcript	Het
Adam33	G	A	2: 131,053,158		probably benign	Het
Akr7a5	C	A	4: 139,314,269	A163D	probably damaging	Het
Arap1	T	C	7: 101,388,730		probably benign	Het
Arhgap8	A	G	15: 84,770,035	I306V	possibly damaging	Het
Asf1a	C	T	10: 53,606,143	A17V	probably benign	Het
Atp1a4	A	T	1: 172,257,962	S25T	probably benign	Het
BC030867	C	T	11: 102,255,039	S47F	probably damaging	Het
Cbln4	T	C	2: 172,042,208	I31V	probably benign	Het
Ccdc93	T	G	1: 121,448,276	L172R	possibly damaging	Het
Ceacam9	T	C	7: 16,723,619		probably benign	Het
Crhr1	C	A	11: 104,163,883	N107K	probably benign	Het
Cyp11b1	T	A	15: 74,835,797	M488L	probably benign	Het
Dnah7a	A	G	1: 53,419,723	V3752A	probably benign	Het
Dnhd1	G	A	7: 105,721,744	V4744M	probably damaging	Het
Dstyk	C	A	1: 132,449,926	N423K	probably benign	Het
Exph5	T	C	9: 53,375,641	S1341P	probably damaging	Het
Fam161b	T	C	12: 84,354,753	H409R	probably benign	Het
Fbxo21	A	G	5: 117,994,668		probably benign	Het
Flt1	A	G	5: 147,681,741	I230T	probably damaging	Het
Gm9931	T	C	1: 147,281,628		noncoding transcript	Het
Grk6	T	C	13: 55,449,361	F36L	possibly damaging	Het
Hectd1	A	T	12: 51,754,133		probably benign	Het
Hltf	G	A	3: 20,092,807	V577I	possibly damaging	Het
Lrrc8c	A	G	5: 105,607,493	D378G	probably damaging	Het
Mcoln1	C	A	8: 3,512,657	S6*	probably null	Het
Meis1	A	T	11: 19,011,292	S194T	probably benign	Het
Myo1h	A	C	5: 114,353,911		probably benign	Het
Nop9	T	A	14: 55,753,283	C557*	probably null	Het
Nrap	T	C	19: 56,321,000	D1619G	probably damaging	Het
Olfr1314	A	T	2: 112,092,016	H228Q	probably benign	Het
Olfr854	A	G	9: 19,567,198	M59T	probably damaging	Het
Olfr934	T	A	9: 38,982,546	Y166F	possibly damaging	Het
Pard3b	T	A	1: 61,767,950	D41E	possibly damaging	Het
Parp14	G	T	16: 35,858,597	Q334K	probably benign	Het
Phf3	A	T	1: 30,808,778	I1228K	probably damaging	Het
Polr1b	T	A	2: 129,123,879	F814I	probably benign	Het
Rsph1	T	G	17: 31,258,116	S282R	probably benign	Het
Son	T	C	16: 91,656,104	S580P	possibly damaging	Het
Sptbn5	G	T	2: 120,047,617		probably benign	Het
Ssr2	T	A	3: 88,583,788		probably null	Het
Tfpt	A	G	7: 3,629,040	S24P	probably damaging	Het
Tg	A	G	15: 66,705,348	T1507A	probably benign	Het
Trpm7	A	G	2: 126,799,243		probably benign	Het
Wwox	G	A	8: 114,448,159		probably null	Het
Ythdf2	C	T	4: 132,204,508	R447H	possibly damaging	Het
Zfp385c	A	G	11: 100,629,019	F368S	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zhx1	A	C	15: 58,054,049	V267G	possibly damaging	Het

Other mutations in Grm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Grm1	APN	10	10720039	missense	probably benign	0.01
IGL02078:Grm1	APN	10	10689610	missense	probably benign	0.02
IGL02476:Grm1	APN	10	10689453	missense	probably benign	0.29
IGL02498:Grm1	APN	10	10719979	missense	probably damaging	1.00
IGL02621:Grm1	APN	10	10689011	nonsense	probably null
IGL03192:Grm1	APN	10	11079916	missense	possibly damaging	0.66
IGL03342:Grm1	APN	10	11079971	missense	probably benign	0.08
dewey	UTSW	10	10719595	missense	probably damaging	1.00
Dingus	UTSW	10	10719967	missense	probably benign	0.06
donald	UTSW	10	10741508	nonsense	probably null
jim	UTSW	10	10719805	missense	probably damaging	1.00
lightness	UTSW	10	11079958	missense	probably damaging	1.00
IGL02796:Grm1	UTSW	10	10689667	missense	probably benign
R0294:Grm1	UTSW	10	11080399	missense	probably damaging	1.00
R0525:Grm1	UTSW	10	10719209	splice site	probably benign
R0554:Grm1	UTSW	10	10719923	missense	probably benign	0.01
R1184:Grm1	UTSW	10	10720034	missense	probably benign	0.40
R1319:Grm1	UTSW	10	10689398	missense	probably benign	0.05
R1403:Grm1	UTSW	10	11080135	missense	probably benign	0.00
R1403:Grm1	UTSW	10	11080135	missense	probably benign	0.00
R1467:Grm1	UTSW	10	10719958	missense	probably damaging	1.00
R1467:Grm1	UTSW	10	10719958	missense	probably damaging	1.00
R1494:Grm1	UTSW	10	10689706	missense	probably benign	0.04
R1589:Grm1	UTSW	10	10719967	missense	probably benign	0.06
R1615:Grm1	UTSW	10	10741508	nonsense	probably null
R1720:Grm1	UTSW	10	10746794	splice site	probably null
R1738:Grm1	UTSW	10	10936419	missense	probably damaging	1.00
R1763:Grm1	UTSW	10	11079866	missense	possibly damaging	0.47
R1774:Grm1	UTSW	10	11079866	missense	possibly damaging	0.47
R2041:Grm1	UTSW	10	10746603	missense	probably damaging	0.98
R2092:Grm1	UTSW	10	10689225	missense	probably benign	0.00
R2198:Grm1	UTSW	10	10782776	missense	probably damaging	1.00
R2297:Grm1	UTSW	10	11080414	missense	probably benign	0.03
R2333:Grm1	UTSW	10	10719346	missense	probably damaging	0.98
R2333:Grm1	UTSW	10	10719619	missense	probably benign	0.31
R2914:Grm1	UTSW	10	11079857	missense	probably benign	0.07
R3105:Grm1	UTSW	10	11079857	missense	probably benign	0.07
R3106:Grm1	UTSW	10	11079857	missense	probably benign	0.07
R3705:Grm1	UTSW	10	10782729	missense	possibly damaging	0.95
R3931:Grm1	UTSW	10	10719878	missense	probably benign	0.44
R4810:Grm1	UTSW	10	10782694	missense	probably damaging	1.00
R4892:Grm1	UTSW	10	10719587	missense	possibly damaging	0.81
R4938:Grm1	UTSW	10	10936513	missense	probably damaging	1.00
R4947:Grm1	UTSW	10	10782633	missense	probably damaging	1.00
R4966:Grm1	UTSW	10	10719665	nonsense	probably null
R5152:Grm1	UTSW	10	11079875	missense	probably benign	0.13
R5283:Grm1	UTSW	10	10733192	missense	possibly damaging	0.70
R5317:Grm1	UTSW	10	10746699	missense	possibly damaging	0.77
R5374:Grm1	UTSW	10	11080442	missense	probably benign	0.14
R5428:Grm1	UTSW	10	10719563	missense	probably damaging	1.00
R5604:Grm1	UTSW	10	10746735	missense	probably damaging	1.00
R5894:Grm1	UTSW	10	11080255	missense	probably damaging	1.00
R5896:Grm1	UTSW	10	11080550	utr 5 prime	probably benign
R5899:Grm1	UTSW	10	10689348	missense	probably benign
R6032:Grm1	UTSW	10	10719805	missense	probably damaging	1.00
R6032:Grm1	UTSW	10	10719805	missense	probably damaging	1.00
R6139:Grm1	UTSW	10	10746331	intron	probably benign
R6144:Grm1	UTSW	10	11079896	missense	probably benign	0.08
R6208:Grm1	UTSW	10	10719946	missense	probably damaging	1.00
R6976:Grm1	UTSW	10	10689180	missense	probably benign	0.00
R7027:Grm1	UTSW	10	10719595	missense	probably damaging	1.00
R7079:Grm1	UTSW	10	11079958	missense	probably damaging	1.00
R7286:Grm1	UTSW	10	10689696	missense	probably benign	0.19
R7352:Grm1	UTSW	10	10719493	missense	probably damaging	1.00
R7484:Grm1	UTSW	10	10746659	missense	probably benign	0.06
R7838:Grm1	UTSW	10	11080352	missense	probably benign	0.02
R8108:Grm1	UTSW	10	10720132	missense	probably benign	0.01
R8379:Grm1	UTSW	10	10689135	missense	possibly damaging	0.86
R8498:Grm1	UTSW	10	11079861	nonsense	probably null
X0002:Grm1	UTSW	10	10936513	missense	probably damaging	1.00

Posted On

2015-04-16