Mutagenetix > Incidental Mutation

Incidental Mutation 'R5983:Grm8'

481518

Institutional Source

Beutler Lab

Gene Symbol

Grm8

Ensembl Gene

ENSMUSG00000024211

Gene Name

glutamate receptor, metabotropic 8

Synonyms

mGluR8, Gprc1h

MMRRC Submission

044164-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27275120-28135094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27760220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 370 (K370R)

Ref Sequence

ENSEMBL: ENSMUSP00000110979 (fasta)

Gene Model

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

AlphaFold

P47743

Predicted Effect

probably benign
Transcript: ENSMUST00000090512
AA Change: K370R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000087998
Gene: ENSMUSG00000024211
AA Change: K370R

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 benign
Transcript: ENSMUST00000115323
AA Change: K370R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110978
Gene: ENSMUSG00000024211
AA Change: K370R

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 benign
Transcript: ENSMUST00000115324
AA Change: K370R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110979
Gene: ENSMUSG00000024211
AA Change: K370R

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

Meta Mutation Damage Score

0.0976

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (29/29)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,807,942 (GRCm39)	M861K	probably benign	Het
Abhd18	T	A	3: 40,864,979 (GRCm39)	F73L	probably damaging	Het
Abraxas1	A	G	5: 100,955,777 (GRCm39)	V237A	probably benign	Het
Adam26b	T	C	8: 43,974,378 (GRCm39)	Y208C	probably damaging	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Bach2	A	T	4: 32,563,324 (GRCm39)	E597V	probably damaging	Het
Ccdc170	A	T	10: 4,470,851 (GRCm39)	R232*	probably null	Het
Cfap100	A	C	6: 90,396,373 (GRCm39)		probably benign	Het
Dppa2	G	A	16: 48,136,204 (GRCm39)	M185I	probably benign	Het
Ecsit	C	T	9: 21,989,443 (GRCm39)		probably null	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Ide	C	T	19: 37,249,549 (GRCm39)		probably null	Het
Katnip	T	A	7: 125,449,545 (GRCm39)	W870R	probably damaging	Het
Morn3	T	C	5: 123,175,851 (GRCm39)	D179G	possibly damaging	Het
Nkapd1	A	G	9: 50,519,142 (GRCm39)	S157P	probably damaging	Het
Nvl	A	T	1: 180,964,471 (GRCm39)	D102E	probably benign	Het
Or5an10	T	A	19: 12,276,467 (GRCm39)	I10F	probably benign	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rsph9	A	G	17: 46,440,406 (GRCm39)	M230T	probably benign	Het
Sacs	G	A	14: 61,442,648 (GRCm39)	V1565M	probably damaging	Het
Serpina3n	T	C	12: 104,375,288 (GRCm39)	L120P	probably damaging	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Tmem147	T	C	7: 30,427,484 (GRCm39)	D111G	probably damaging	Het
Ttn	A	G	2: 76,572,725 (GRCm39)	V17729A	possibly damaging	Het
Vmn2r104	G	A	17: 20,261,970 (GRCm39)	P387S	probably damaging	Het
Zfp940	C	T	7: 29,544,477 (GRCm39)	V477M	possibly damaging	Het
Zw10	A	G	9: 48,988,745 (GRCm39)		probably null	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
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
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'- AGTTTACTGAGTGCTGAGCTCG -3'
(R):5'- AAACACTTCTTCAAAGTTCTGGTGG -3'

Sequencing Primer
(F):5'- TAAGTTTGCAAGACCTAGGGGCC -3'
(R):5'- TCTTCAAAGTTCTGGTGGTATTTTG -3'

Posted On

2017-06-26