Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02329:Grm8'

288606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grm8

Ensembl Gene

ENSMUSG00000024211

Gene Name

glutamate receptor, metabotropic 8

Synonyms

mGluR8, Gprc1h

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02329

Quality Score

Status

Chromosome

Chromosomal Location

27275120-28135094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27363115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 800 (I800N)

Ref Sequence

ENSEMBL: ENSMUSP00000110979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090512] [ENSMUST00000115323] [ENSMUST00000115324]

AlphaFold

P47743

Predicted Effect

probably damaging
Transcript: ENSMUST00000090512
AA Change: I800N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087998
Gene: ENSMUSG00000024211
AA Change: I800N

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	74	478	9.6e-102	PFAM
Pfam:Peripla_BP_6	141	375	1.3e-9	PFAM
Pfam:NCD3G	512	562	5e-17	PFAM
Pfam:7tm_3	593	841	4.7e-88	PFAM
low complexity region	887	905	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115323
AA Change: I800N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110978
Gene: ENSMUSG00000024211
AA Change: I800N

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	74	478	3.3e-107	PFAM
Pfam:NCD3G	512	562	9e-14	PFAM
Pfam:7tm_3	595	840	6.8e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115324
AA Change: I800N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110979
Gene: ENSMUSG00000024211
AA Change: I800N

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	74	478	2.1e-101	PFAM
Pfam:Peripla_BP_6	141	375	9.2e-10	PFAM
Pfam:NCD3G	512	562	2.8e-16	PFAM
Pfam:7tm_3	593	841	2.4e-87	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are overweight and mildly insulin resistant, and display increased anxiety-related responses and reduced exploration in a new environment. Mice homozygous for a different knock-out allele exhibit altered excitatory responses in the dentate gyrus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	T	C	19: 6,299,959 (GRCm39)		probably null	Het
Bfsp1	T	C	2: 143,704,566 (GRCm39)	T96A	probably benign	Het
Btnl1	A	G	17: 34,601,239 (GRCm39)	E322G	possibly damaging	Het
Cand2	T	C	6: 115,766,568 (GRCm39)	V391A	probably damaging	Het
Ccdc169	A	G	3: 55,078,702 (GRCm39)	M188V	probably benign	Het
Cngb1	T	C	8: 95,968,987 (GRCm39)	I1174V	probably benign	Het
Cpeb4	T	C	11: 31,822,316 (GRCm39)	V10A	possibly damaging	Het
Cpt1b	T	C	15: 89,307,942 (GRCm39)	T206A	probably benign	Het
Dapk3	T	C	10: 81,025,999 (GRCm39)	S97P	probably benign	Het
Drc3	T	C	11: 60,261,404 (GRCm39)	L185P	probably damaging	Het
Efr3b	T	C	12: 4,042,923 (GRCm39)		probably null	Het
Erbb3	T	A	10: 128,409,088 (GRCm39)	I742F	probably damaging	Het
Fktn	A	G	4: 53,720,181 (GRCm39)	Y65C	probably benign	Het
Fstl5	G	A	3: 76,496,302 (GRCm39)	G355D	probably damaging	Het
Gss	C	T	2: 155,409,773 (GRCm39)	R221H	probably benign	Het
H2-M10.4	A	T	17: 36,771,359 (GRCm39)	V273D	probably damaging	Het
Large1	C	A	8: 73,774,945 (GRCm39)	W255L	possibly damaging	Het
Meig1	T	C	2: 3,410,288 (GRCm39)	K71E	probably damaging	Het
Mtor	A	G	4: 148,619,396 (GRCm39)	N1760D	probably benign	Het
Ncapd2	A	T	6: 125,166,781 (GRCm39)	N24K	probably damaging	Het
Nphp3	A	C	9: 103,903,167 (GRCm39)	S715R	probably benign	Het
Papolg	T	G	11: 23,841,869 (GRCm39)	H18P	probably damaging	Het
Psd	T	C	19: 46,308,098 (GRCm39)	H667R	possibly damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rtp1	T	C	16: 23,249,943 (GRCm39)	S103P	probably damaging	Het
Snx21	T	C	2: 164,634,310 (GRCm39)		probably benign	Het
Spmip3	A	T	1: 177,570,867 (GRCm39)	Q67L	probably benign	Het
Tiam1	G	T	16: 89,596,924 (GRCm39)	H301N	probably benign	Het
Trcg1	A	T	9: 57,147,676 (GRCm39)	I11F	possibly damaging	Het
Trpm6	A	G	19: 18,831,581 (GRCm39)	K1482R	probably benign	Het
Tyw1	G	T	5: 130,295,921 (GRCm39)	G116V	probably benign	Het
Zfp341	T	C	2: 154,474,224 (GRCm39)	C343R	possibly damaging	Het

Other mutations in Grm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Grm8	APN	6	27,363,800 (GRCm39)	missense	probably damaging	1.00
IGL01412:Grm8	APN	6	27,762,460 (GRCm39)	missense	probably damaging	1.00
IGL02342:Grm8	APN	6	27,363,803 (GRCm39)	missense	probably benign	0.00
IGL02584:Grm8	APN	6	27,762,438 (GRCm39)	missense	probably benign	0.35
IGL03040:Grm8	APN	6	28,126,122 (GRCm39)	start codon destroyed	probably null	0.01
IGL03112:Grm8	APN	6	27,363,262 (GRCm39)	missense	probably damaging	1.00
IGL03139:Grm8	APN	6	27,618,649 (GRCm39)	missense	probably damaging	1.00
IGL03287:Grm8	APN	6	27,760,254 (GRCm39)	missense	possibly damaging	0.86
R0137:Grm8	UTSW	6	27,762,389 (GRCm39)	missense	probably damaging	0.99
R0266:Grm8	UTSW	6	27,285,895 (GRCm39)	missense	probably damaging	1.00
R0347:Grm8	UTSW	6	27,981,221 (GRCm39)	missense	probably benign	0.37
R0580:Grm8	UTSW	6	27,761,370 (GRCm39)	splice site	probably benign
R0698:Grm8	UTSW	6	27,363,913 (GRCm39)	missense	probably damaging	1.00
R0833:Grm8	UTSW	6	27,363,178 (GRCm39)	missense	probably damaging	1.00
R1301:Grm8	UTSW	6	27,981,200 (GRCm39)	missense	possibly damaging	0.94
R1323:Grm8	UTSW	6	28,125,973 (GRCm39)	missense	probably damaging	1.00
R1323:Grm8	UTSW	6	28,125,973 (GRCm39)	missense	probably damaging	1.00
R1471:Grm8	UTSW	6	27,363,308 (GRCm39)	missense	possibly damaging	0.79
R1554:Grm8	UTSW	6	28,125,852 (GRCm39)	missense	probably benign	0.01
R1638:Grm8	UTSW	6	28,125,882 (GRCm39)	nonsense	probably null
R1763:Grm8	UTSW	6	27,285,866 (GRCm39)	missense	possibly damaging	0.79
R1899:Grm8	UTSW	6	28,125,894 (GRCm39)	missense	probably damaging	1.00
R1902:Grm8	UTSW	6	27,429,481 (GRCm39)	missense	probably damaging	1.00
R1916:Grm8	UTSW	6	27,363,583 (GRCm39)	missense	probably benign	0.01
R2257:Grm8	UTSW	6	27,760,224 (GRCm39)	missense	probably damaging	0.98
R2351:Grm8	UTSW	6	28,126,118 (GRCm39)	missense	possibly damaging	0.66
R2396:Grm8	UTSW	6	27,761,241 (GRCm39)	missense	probably damaging	0.98
R3801:Grm8	UTSW	6	28,125,635 (GRCm39)	missense	possibly damaging	0.95
R3802:Grm8	UTSW	6	28,125,635 (GRCm39)	missense	possibly damaging	0.95
R3803:Grm8	UTSW	6	28,125,635 (GRCm39)	missense	possibly damaging	0.95
R3804:Grm8	UTSW	6	28,125,635 (GRCm39)	missense	possibly damaging	0.95
R3830:Grm8	UTSW	6	27,761,228 (GRCm39)	nonsense	probably null
R3844:Grm8	UTSW	6	27,429,507 (GRCm39)	missense	possibly damaging	0.69
R4006:Grm8	UTSW	6	27,981,229 (GRCm39)	missense	probably damaging	1.00
R4077:Grm8	UTSW	6	27,760,208 (GRCm39)	missense	probably benign	0.01
R4395:Grm8	UTSW	6	27,429,431 (GRCm39)	missense	probably damaging	0.98
R4436:Grm8	UTSW	6	27,761,237 (GRCm39)	missense	possibly damaging	0.48
R4810:Grm8	UTSW	6	27,761,295 (GRCm39)	missense	possibly damaging	0.87
R5357:Grm8	UTSW	6	27,762,418 (GRCm39)	missense	probably damaging	1.00
R5677:Grm8	UTSW	6	27,761,203 (GRCm39)	critical splice donor site	probably null
R5983:Grm8	UTSW	6	27,760,220 (GRCm39)	missense	probably benign	0.03
R5990:Grm8	UTSW	6	27,363,623 (GRCm39)	missense	probably damaging	1.00
R6365:Grm8	UTSW	6	27,363,226 (GRCm39)	missense	probably damaging	1.00
R6454:Grm8	UTSW	6	27,363,775 (GRCm39)	missense	possibly damaging	0.68
R6713:Grm8	UTSW	6	27,363,190 (GRCm39)	missense	probably damaging	1.00
R6960:Grm8	UTSW	6	27,981,281 (GRCm39)	missense	probably damaging	0.98
R7194:Grm8	UTSW	6	27,618,486 (GRCm39)	missense	probably benign	0.01
R7259:Grm8	UTSW	6	27,760,175 (GRCm39)	missense	probably null	0.99
R7305:Grm8	UTSW	6	27,761,354 (GRCm39)	missense	possibly damaging	0.51
R7421:Grm8	UTSW	6	27,762,476 (GRCm39)	missense	possibly damaging	0.66
R7561:Grm8	UTSW	6	27,429,524 (GRCm39)	missense	probably benign	0.44
R7605:Grm8	UTSW	6	27,618,678 (GRCm39)	missense	probably damaging	1.00
R7651:Grm8	UTSW	6	27,760,257 (GRCm39)	missense	possibly damaging	0.46
R7775:Grm8	UTSW	6	27,363,671 (GRCm39)	missense	possibly damaging	0.89
R7778:Grm8	UTSW	6	27,363,671 (GRCm39)	missense	possibly damaging	0.89
R7781:Grm8	UTSW	6	27,285,786 (GRCm39)	missense	probably benign
R7785:Grm8	UTSW	6	27,618,636 (GRCm39)	missense	probably damaging	0.99
R7898:Grm8	UTSW	6	27,762,422 (GRCm39)	missense	probably damaging	1.00
R8272:Grm8	UTSW	6	27,363,281 (GRCm39)	missense	probably damaging	1.00
R8274:Grm8	UTSW	6	27,761,335 (GRCm39)	missense	probably benign	0.31
R8501:Grm8	UTSW	6	27,618,540 (GRCm39)	missense	probably damaging	0.98
R8695:Grm8	UTSW	6	28,126,030 (GRCm39)	missense	probably benign	0.01
R8824:Grm8	UTSW	6	27,761,351 (GRCm39)	missense	probably damaging	1.00
R8869:Grm8	UTSW	6	27,363,752 (GRCm39)	missense	probably benign	0.26
R9322:Grm8	UTSW	6	27,363,728 (GRCm39)	missense	possibly damaging	0.88
R9337:Grm8	UTSW	6	27,761,214 (GRCm39)	missense	probably benign	0.01
R9518:Grm8	UTSW	6	27,429,469 (GRCm39)	missense	probably benign	0.01
RF013:Grm8	UTSW	6	27,363,779 (GRCm39)	missense	probably damaging	1.00
Z1176:Grm8	UTSW	6	28,126,026 (GRCm39)	missense	probably benign	0.19

Posted On

2015-04-16