Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Grm1'

417266

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

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

10686059-11082356 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11079971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 190 (I190L)

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: I190L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: I190L

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: I190L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: I190L

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: I190L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: I190L

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,287,691	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,665,135	R136I	probably damaging	Het
Acap2	A	G	16: 31,105,492	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,407,320	D706E	probably benign	Het
Bbs1	A	T	19: 4,897,593	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,466,944		probably null	Het
Car2	A	T	3: 14,895,569	D129V	probably benign	Het
Catsper2	T	C	2: 121,406,736	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,051,055	R452M	probably benign	Het
Chrm1	A	T	19: 8,679,308	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264		probably benign	Het
Coa7	A	G	4: 108,332,229	D42G	probably damaging	Het
Ctsz	T	C	2: 174,429,140	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,810,407	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,855,117	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,697,936	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,409,460	M1008K	probably benign	Het
Dsg4	T	A	18: 20,451,823	I198N	probably damaging	Het
Dtymk	C	A	1: 93,794,819	E87D	probably benign	Het
Dysf	T	A	6: 84,190,872	D1749E	probably benign	Het
Dzip3	G	T	16: 48,929,623	Q1050K	probably damaging	Het
Echs1	C	T	7: 140,110,113		probably benign	Het
Enc1	T	A	13: 97,246,470	I496N	possibly damaging	Het
Epc2	A	T	2: 49,536,646	Y139F	probably benign	Het
Exo1	A	T	1: 175,892,127	N246I	probably benign	Het
Flg2	A	G	3: 93,201,235	K190R	probably damaging	Het
Gm5424	A	T	10: 62,072,192		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,574,543	T133P	probably benign	Het
Gpr155	A	G	2: 73,349,678	F146S	probably damaging	Het
Hif3a	C	T	7: 17,041,122	R515H	possibly damaging	Het
Kdm5b	G	A	1: 134,602,576	D442N	probably benign	Het
Manba	A	T	3: 135,517,987	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,892,231	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,491,390	L163P	probably damaging	Het
Med1	A	T	11: 98,189,180		probably null	Het
Mtrf1	C	T	14: 79,415,871		probably benign	Het
Mtrf1	T	A	14: 79,415,872		probably null	Het
Mtrf1	A	G	14: 79,415,980	D365G	possibly damaging	Het
Myadm	C	T	7: 3,296,887	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,133,262	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,445,318	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,122,791	D544E	probably benign	Het
Nlrp2	A	T	7: 5,317,483	L20Q	probably damaging	Het
Olfr1053	A	T	2: 86,315,235	I17N	possibly damaging	Het
Olfr1504	A	G	19: 13,887,437	Y258H	probably damaging	Het
Olfr390	T	A	11: 73,787,483	S182T	probably benign	Het
Padi3	G	A	4: 140,810,598	Q4*	probably null	Het
Pfkl	A	T	10: 78,005,475	I13K	possibly damaging	Het
Pinx1	A	G	14: 63,919,569	D315G	probably benign	Het
Prickle3	A	G	X: 7,663,496	D47G	probably benign	Het
Psmd10	A	T	X: 140,956,654	V5E	probably damaging	Het
Rasgrf2	C	A	13: 91,987,979	V605F	probably damaging	Het
Smarca1	G	T	X: 47,892,269	A84D	probably damaging	Het
Sp2	A	G	11: 96,961,762	V112A	probably damaging	Het
Srgap3	G	A	6: 112,775,687	R279C	probably damaging	Het
Ssfa2	G	A	2: 79,660,452	M971I	probably damaging	Het
Trav21-dv12	T	C	14: 53,876,044	L10P	unknown	Het
Vmn1r236	A	T	17: 21,286,974	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,509,372	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,427,916	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,138,683	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,524,223	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,215,471	G130*	probably null	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
IGL02156:Grm1	APN	10	10719976	missense	probably damaging	0.99
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
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
R8712:Grm1	UTSW	10	10689552	missense	probably benign	0.34
R8856:Grm1	UTSW	10	10719348	missense	probably damaging	1.00
R8904:Grm1	UTSW	10	10719537	missense	probably damaging	1.00
R9043:Grm1	UTSW	10	10689312	nonsense	probably null
R9477:Grm1	UTSW	10	10719661	missense	probably benign	0.15
R9674:Grm1	UTSW	10	10733284	missense	possibly damaging	0.91
R9685:Grm1	UTSW	10	10689031	missense	possibly damaging	0.91
R9777:Grm1	UTSW	10	10698082	missense	possibly damaging	0.92
X0002:Grm1	UTSW	10	10936513	missense	probably damaging	1.00

Posted On

2016-08-02