Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:Grm8'

164881

Institutional Source

Beutler Lab

Gene Symbol

Grm8

Ensembl Gene

ENSMUSG00000024211

Gene Name

glutamate receptor, metabotropic 8

Synonyms

mGluR8, Gprc1h

MMRRC Submission

039524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27275120-28135094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27363308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 736 (A736S)

Ref Sequence

ENSEMBL: ENSMUSP00000110979 (fasta)

Gene Model

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

AlphaFold

P47743

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090512
AA Change: A736S

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087998
Gene: ENSMUSG00000024211
AA Change: A736S

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

possibly damaging
Transcript: ENSMUST00000115323
AA Change: A736S

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110978
Gene: ENSMUSG00000024211
AA Change: A736S

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

possibly damaging
Transcript: ENSMUST00000115324
AA Change: A736S

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110979
Gene: ENSMUSG00000024211
AA Change: A736S

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

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 94.4%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	C	A	13: 61,001,336 (GRCm39)	K130N	probably damaging	Het
Adam6a	T	A	12: 113,508,013 (GRCm39)	S129T	probably damaging	Het
Adamts10	T	A	17: 33,772,112 (GRCm39)	F1087I	probably damaging	Het
Afp	T	A	5: 90,651,541 (GRCm39)	N385K	possibly damaging	Het
Ahnak	T	G	19: 8,990,296 (GRCm39)		probably benign	Het
Akap6	A	G	12: 53,188,279 (GRCm39)	T1898A	probably benign	Het
Antxr2	C	A	5: 98,123,199 (GRCm39)	V283F	possibly damaging	Het
Asgr1	T	C	11: 69,946,919 (GRCm39)	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,649,411 (GRCm39)	K467E	probably damaging	Het
Atp5f1a	C	A	18: 77,868,969 (GRCm39)	Q398K	probably damaging	Het
Atxn2	T	A	5: 121,924,437 (GRCm39)	D455E	probably damaging	Het
B4galt6	C	T	18: 20,878,410 (GRCm39)	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,747,535 (GRCm39)	E165K	probably benign	Het
Cabin1	A	G	10: 75,530,626 (GRCm39)	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386 (GRCm39)	R147*	probably null	Het
Ccdc88b	A	G	19: 6,831,391 (GRCm39)	L517P	probably benign	Het
Cd109	G	A	9: 78,561,869 (GRCm39)	V220I	probably damaging	Het
Cd2ap	T	C	17: 43,131,488 (GRCm39)	K369R	probably benign	Het
Cd300c	A	G	11: 114,850,614 (GRCm39)	V63A	probably benign	Het
Cnot10	A	G	9: 114,420,619 (GRCm39)	V741A	probably benign	Het
Col18a1	G	T	10: 76,932,040 (GRCm39)	Q350K	unknown	Het
Crnkl1	T	C	2: 145,774,236 (GRCm39)	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,298,291 (GRCm39)	K227E	probably benign	Het
Cts6	G	A	13: 61,344,194 (GRCm39)	T286I	probably benign	Het
Cul1	T	C	6: 47,491,820 (GRCm39)	V392A	probably damaging	Het
Dcaf7	T	A	11: 105,937,573 (GRCm39)	F65L	probably benign	Het
Dgke	A	C	11: 88,946,320 (GRCm39)	V160G	possibly damaging	Het
Dock8	C	A	19: 25,178,400 (GRCm39)	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,706,140 (GRCm39)	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Exosc1	A	T	19: 41,913,157 (GRCm39)	S117R	probably damaging	Het
Fga	T	C	3: 82,935,925 (GRCm39)	S51P	probably benign	Het
Fmn1	T	C	2: 113,523,439 (GRCm39)	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,350,837 (GRCm39)	L713F	probably damaging	Het
Galnt4	A	G	10: 98,944,536 (GRCm39)	E87G	probably benign	Het
Gamt	T	C	10: 80,096,692 (GRCm39)	D15G	probably benign	Het
Gm15557	C	A	2: 155,784,174 (GRCm39)	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,281,625 (GRCm39)	I1211V	probably benign	Het
Greb1	A	T	12: 16,761,775 (GRCm39)	M535K	probably damaging	Het
Hspa14	T	C	2: 3,492,645 (GRCm39)	I373M	probably benign	Het
Ifi207	T	A	1: 173,557,629 (GRCm39)	T370S	unknown	Het
Igf1r	A	G	7: 67,653,585 (GRCm39)	N41S	probably damaging	Het
Ikzf5	A	T	7: 130,993,496 (GRCm39)	V224D	probably damaging	Het
Il10	C	A	1: 130,949,110 (GRCm39)	Y90*	probably null	Het
Itga4	A	G	2: 79,117,376 (GRCm39)	D394G	probably benign	Het
Kif21a	A	T	15: 90,840,622 (GRCm39)	S1165T	probably benign	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Loxl2	A	G	14: 69,930,546 (GRCm39)	N770S	probably benign	Het
Man2b1	A	G	8: 85,813,474 (GRCm39)	D222G	probably damaging	Het
Mcub	T	A	3: 129,709,464 (GRCm39)	Y283F	probably damaging	Het
Meis3	T	A	7: 15,911,496 (GRCm39)	Y64*	probably null	Het
Mfsd6	T	A	1: 52,748,716 (GRCm39)	I50F	probably benign	Het
Micu2	T	C	14: 58,182,854 (GRCm39)	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,686,143 (GRCm39)	E921G	probably damaging	Het
Muc5b	A	T	7: 141,396,971 (GRCm39)	N215Y	unknown	Het
Muc6	A	G	7: 141,234,176 (GRCm39)	F772L	possibly damaging	Het
Myt1	A	G	2: 181,438,904 (GRCm39)	D142G	probably benign	Het
Nol6	C	T	4: 41,120,281 (GRCm39)	V479I	probably benign	Het
Nsun7	A	G	5: 66,441,572 (GRCm39)	K414E	probably benign	Het
Nup210l	A	C	3: 90,077,869 (GRCm39)	I914L	probably benign	Het
Obox3	G	A	7: 15,360,875 (GRCm39)	P88L	probably benign	Het
Or10ag57	A	G	2: 87,218,862 (GRCm39)	Y271C	probably damaging	Het
Or4f4b	T	C	2: 111,314,351 (GRCm39)	L192P	probably damaging	Het
Or8h8	C	T	2: 86,752,922 (GRCm39)		probably null	Het
Or8w1	T	C	2: 87,466,014 (GRCm39)	T26A	probably benign	Het
Pclo	T	C	5: 14,730,441 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,545,688 (GRCm39)	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,128,473 (GRCm39)	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,701,334 (GRCm39)	Q1534L	probably benign	Het
Pramel28	T	C	4: 143,691,523 (GRCm39)	N400S	probably benign	Het
Rell1	T	A	5: 64,093,428 (GRCm39)	D109V	probably damaging	Het
Rplp0	C	T	5: 115,701,403 (GRCm39)	T285I	probably damaging	Het
Sanbr	A	T	11: 23,565,222 (GRCm39)	M255K	probably damaging	Het
Sema3g	C	T	14: 30,950,002 (GRCm39)	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,574,153 (GRCm39)	Y536H	probably damaging	Het
Slc26a5	T	A	5: 22,021,962 (GRCm39)	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,022,362 (GRCm39)	S566C	probably damaging	Het
Spink7	C	T	18: 62,729,275 (GRCm39)	E21K	possibly damaging	Het
Src	C	T	2: 157,299,107 (GRCm39)	Q35*	probably null	Het
Srrm2	T	A	17: 24,039,770 (GRCm39)	V2234E	probably damaging	Het
Stk36	A	T	1: 74,650,314 (GRCm39)	Q282L	probably benign	Het
Tas2r118	T	G	6: 23,969,170 (GRCm39)	E297A	probably damaging	Het
Terf1	A	G	1: 15,913,194 (GRCm39)	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,247,498 (GRCm39)	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,808,355 (GRCm39)	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,174,107 (GRCm39)	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,771,707 (GRCm39)	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,239,930 (GRCm39)	D152N	probably damaging	Het
Unk	T	C	11: 115,940,235 (GRCm39)	I196T	probably benign	Het
Uroc1	T	G	6: 90,321,153 (GRCm39)	V243G	probably damaging	Het
Usp34	C	A	11: 23,438,862 (GRCm39)	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,697,447 (GRCm39)	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,380,882 (GRCm39)	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp362	T	C	4: 128,680,993 (GRCm39)	T111A	probably benign	Het
Zfp598	T	C	17: 24,899,046 (GRCm39)	V615A	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
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

Predicted Primers

PCR Primer
(F):5'- CATGCAATCGTGTTACTGGAGGGG -3'
(R):5'- GTCACAGCACCTAAGTTCATCAGCC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TAAGTTCATCAGCCCAGCATC -3'

Posted On

2014-03-28