Mutagenetix > Incidental Mutation

Incidental Mutation 'R3931:Grm1'

308470

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

040918-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R3931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10561803-10958100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10595622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 669 (A669T)

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: A669T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: A669T

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: A669T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: A669T

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: A669T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: A669T

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

Meta Mutation Damage Score

0.0991

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (30/30)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	C	6: 92,811,420 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,348 (GRCm39)	L159P	probably damaging	Het
Ccnd2	A	G	6: 127,107,422 (GRCm39)	I249T	probably damaging	Het
Cerk	G	T	15: 86,039,311 (GRCm39)	C193*	probably null	Het
Chrna2	A	G	14: 66,387,216 (GRCm39)	E454G	probably benign	Het
Clnk	T	C	5: 38,925,412 (GRCm39)	T130A	probably benign	Het
Dcbld2	T	C	16: 58,285,701 (GRCm39)	L620P	probably damaging	Het
Dhx29	T	A	13: 113,095,499 (GRCm39)	V942E	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnai1	G	A	4: 41,604,229 (GRCm39)	C212Y	probably damaging	Het
Dpep1	A	G	8: 123,925,518 (GRCm39)	D57G	possibly damaging	Het
Gfm2	G	A	13: 97,311,532 (GRCm39)	V701I	probably benign	Het
Hsd3b3	C	T	3: 98,649,492 (GRCm39)	G277D	probably damaging	Het
Hsf5	A	G	11: 87,522,508 (GRCm39)	Y367C	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lipo4	C	T	19: 33,480,619 (GRCm39)	V250I	probably benign	Het
Lrrc14	T	C	15: 76,597,765 (GRCm39)	V165A	probably benign	Het
Map3k9	A	G	12: 81,819,691 (GRCm39)	F188L	probably damaging	Het
Mpo	A	G	11: 87,691,866 (GRCm39)	Y433C	probably damaging	Het
Nsd2	A	G	5: 34,003,461 (GRCm39)	K185E	probably benign	Het
Or6n2	T	A	1: 173,897,147 (GRCm39)	F94L	probably damaging	Het
Oxct1	T	A	15: 4,066,601 (GRCm39)	N72K	possibly damaging	Het
Ptpn12	A	G	5: 21,206,321 (GRCm39)	I324T	probably benign	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Tpr	T	A	1: 150,311,655 (GRCm39)	V1811E	probably damaging	Het
Trpc4	A	G	3: 54,225,516 (GRCm39)	D871G	probably damaging	Het
Upf2	A	G	2: 6,051,821 (GRCm39)	E1161G	unknown	Het
Zp2	T	C	7: 119,731,580 (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
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'- CTTCCTTGATGCTCGGGTAG -3'
(R):5'- GCATCCTCGTGACGCTATTTG -3'

Sequencing Primer
(F):5'- GGCTCCATGATGATCAAGGTCAC -3'
(R):5'- GACGCTATTTGTCACCCTCATC -3'

Posted On

2015-04-17