Mutagenetix > Incidental Mutation

Incidental Mutation 'R2396:Grm8'

248522

Institutional Source

Beutler Lab

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 #

R2396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27275120-28135094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27761241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 328 (A328T)

Ref Sequence

ENSEMBL: ENSMUSP00000110979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090512] [ENSMUST00000115323] [ENSMUST00000115324] [ENSMUST00000131897]

AlphaFold

P47743

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090512
AA Change: A328T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087998
Gene: ENSMUSG00000024211
AA Change: A328T

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: A328T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110978
Gene: ENSMUSG00000024211
AA Change: A328T

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: A328T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110979
Gene: ENSMUSG00000024211
AA Change: A328T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131897

SMART Domains

Protein: ENSMUSP00000120394
Gene: ENSMUSG00000024211

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	74	294	5.8e-66	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,261,356 (GRCm39)	W1189*	probably null	Het
Col4a4	C	G	1: 82,484,793 (GRCm39)	M491I	unknown	Het
Col5a1	C	A	2: 27,876,741 (GRCm39)	D813E	unknown	Het
Cyp4b1	T	C	4: 115,498,843 (GRCm39)	Y113C	probably benign	Het
Dmac1	A	G	4: 75,196,458 (GRCm39)	F11L	unknown	Het
Dnah9	G	T	11: 65,975,984 (GRCm39)	T1355K	probably benign	Het
Efemp1	G	A	11: 28,817,941 (GRCm39)	R140Q	possibly damaging	Het
Elapor2	T	C	5: 9,485,395 (GRCm39)	L519P	possibly damaging	Het
Fndc3a	T	C	14: 72,921,123 (GRCm39)	D17G	possibly damaging	Het
Lepr	C	A	4: 101,590,725 (GRCm39)	A101E	probably benign	Het
Ncapg	A	G	5: 45,835,715 (GRCm39)	N382S	probably benign	Het
Or10am5	C	A	7: 6,517,784 (GRCm39)	V215F	probably damaging	Het
Or5m13b	T	C	2: 85,754,269 (GRCm39)	I219T	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pigb	T	A	9: 72,922,553 (GRCm39)	R11*	probably null	Het
Prl8a1	C	A	13: 27,758,007 (GRCm39)	R234L	probably benign	Het
Spred3	T	C	7: 28,866,059 (GRCm39)	H80R	probably damaging	Het
Sptlc3	T	C	2: 139,408,506 (GRCm39)	I207T	probably benign	Het
Tll1	C	A	8: 64,523,324 (GRCm39)	G463*	probably null	Het
Tm4sf4	T	G	3: 57,345,181 (GRCm39)	C196G	unknown	Het
Tmem87a	A	T	2: 120,234,540 (GRCm39)	M1K	probably null	Het
Tmem92	A	G	11: 94,673,233 (GRCm39)	L10P	probably damaging	Het
Trdn	A	T	10: 33,071,978 (GRCm39)	E215V	probably damaging	Het
Trpm2	A	T	10: 77,766,471 (GRCm39)	D849E	probably benign	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
IGL02329:Grm8	APN	6	27,363,115 (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
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

Predicted Primers

PCR Primer
(F):5'- AAATGACTACTGTGCTAAAGGTGC -3'
(R):5'- ATCCATAATTGTAGTCCCTTCCAAC -3'

Sequencing Primer
(F):5'- CTACTGTGCTAAAGGTGCATATTTC -3'
(R):5'- ATTGTAGTCCCTTCCAACAAATATC -3'

Posted On

2014-11-11