Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Grm6'

169056

Institutional Source

Beutler Lab

Gene Symbol

Grm6

Ensembl Gene

ENSMUSG00000000617

Gene Name

glutamate receptor, metabotropic 6

Synonyms

nob3, mGluR6, nerg1

MMRRC Submission

039549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50741512-50757035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50748083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 398 (V398M)

Ref Sequence

ENSEMBL: ENSMUSP00000130728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000631] [ENSMUST00000171427]

AlphaFold

Q5NCH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000000631
AA Change: V398M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: V398M

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ANF_receptor	61	471	4.1e-101	PFAM
Pfam:Peripla_BP_6	132	475	1.7e-11	PFAM
Pfam:NCD3G	508	558	5.3e-16	PFAM
low complexity region	575	587	N/A	INTRINSIC
Pfam:7tm_3	589	837	7.2e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156890

Predicted Effect

probably damaging
Transcript: ENSMUST00000171427
AA Change: V398M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: V398M

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ANF_receptor	61	471	2.5e-106	PFAM
Pfam:Peripla_BP_6	132	338	6.2e-10	PFAM
Pfam:NCD3G	508	558	4e-13	PFAM
low complexity region	575	587	N/A	INTRINSIC
Pfam:7tm_3	591	836	1.4e-56	PFAM

Meta Mutation Damage Score

0.2577

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

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. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,374,627 (GRCm39)	S799P	probably benign	Het
Acvr1b	T	C	15: 101,091,891 (GRCm39)	F57S	probably benign	Het
Adamts5	T	A	16: 85,696,990 (GRCm39)	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Agr3	A	T	12: 35,984,379 (GRCm39)		probably null	Het
Ankrd6	A	G	4: 32,810,289 (GRCm39)	M405T	probably benign	Het
Aoc1l2	A	G	6: 48,908,305 (GRCm39)	H435R	probably benign	Het
Aqp5	T	C	15: 99,491,128 (GRCm39)	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,153 (GRCm39)	R180L	probably benign	Het
Asap3	A	G	4: 135,966,505 (GRCm39)	N528D	probably benign	Het
Atmin	G	A	8: 117,681,540 (GRCm39)	E180K	probably benign	Het
Bcl11a	A	T	11: 24,114,005 (GRCm39)	E449D	probably damaging	Het
Cep128	A	T	12: 91,333,191 (GRCm39)	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,795,905 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,312,966 (GRCm39)	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,966,636 (GRCm39)	D355G	probably benign	Het
Daxx	T	C	17: 34,131,227 (GRCm39)	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,411,493 (GRCm39)		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Erc2	T	A	14: 28,024,855 (GRCm39)	M578K	probably benign	Het
Evc	T	A	5: 37,481,044 (GRCm39)	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,666,243 (GRCm39)	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,706,245 (GRCm39)	T1033I	probably damaging	Het
Fat1	C	A	8: 45,478,521 (GRCm39)	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,203,850 (GRCm39)		probably benign	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Gtpbp1	T	A	15: 79,603,222 (GRCm39)		probably null	Het
Hnf1a	A	G	5: 115,108,596 (GRCm39)	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,662,122 (GRCm39)		probably null	Het
Iqgap2	C	T	13: 95,783,313 (GRCm39)	V1288I	probably benign	Het
Irx5	A	G	8: 93,086,514 (GRCm39)	D199G	probably damaging	Het
Klrh1	A	G	6: 129,748,703 (GRCm39)	S105P	probably damaging	Het
Krt9	G	T	11: 100,079,195 (GRCm39)	C732*	probably null	Het
Lifr	T	C	15: 7,220,099 (GRCm39)	S910P	probably damaging	Het
Lrig1	G	A	6: 94,604,968 (GRCm39)	A209V	possibly damaging	Het
Lrrk1	T	A	7: 65,952,419 (GRCm39)	R506*	probably null	Het
Lyst	T	A	13: 13,824,960 (GRCm39)	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,516,826 (GRCm39)	Q173*	probably null	Het
Mcoln1	T	A	8: 3,562,861 (GRCm39)	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967 (GRCm39)	D49V	possibly damaging	Het
Morc3	A	T	16: 93,650,743 (GRCm39)	N321I	probably damaging	Het
Mrpl48	T	C	7: 100,195,695 (GRCm39)		probably benign	Het
Myo6	T	A	9: 80,214,961 (GRCm39)	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,753,408 (GRCm39)	I325T	probably benign	Het
Or1j19	A	T	2: 36,677,358 (GRCm39)	I274F	probably damaging	Het
Or2ag17	T	C	7: 106,389,623 (GRCm39)	Y195C	possibly damaging	Het
Or4f61	A	T	2: 111,922,938 (GRCm39)	M36K	probably benign	Het
Or8c16	C	G	9: 38,130,676 (GRCm39)	P183A	probably damaging	Het
Or8k32	A	G	2: 86,368,902 (GRCm39)	V117A	probably benign	Het
Parvg	T	A	15: 84,218,832 (GRCm39)	S230T	possibly damaging	Het
Pcca	T	C	14: 122,854,230 (GRCm39)	I118T	probably damaging	Het
Pde6a	A	G	18: 61,365,932 (GRCm39)	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,612,915 (GRCm39)	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,456,261 (GRCm39)	S261P	probably damaging	Het
Ppl	T	C	16: 4,922,629 (GRCm39)	N260S	probably benign	Het
Ppp1r3e	A	T	14: 55,113,882 (GRCm39)	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,559,567 (GRCm39)		probably null	Het
Ppt2	A	T	17: 34,842,075 (GRCm39)	D185E	probably benign	Het
Prr27	A	T	5: 87,998,600 (GRCm39)		probably benign	Het
Ptcd3	A	T	6: 71,870,479 (GRCm39)	V327E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rtp1	A	T	16: 23,249,970 (GRCm39)	M112L	probably benign	Het
Slc22a5	A	T	11: 53,760,140 (GRCm39)	L392Q	probably damaging	Het
Slc6a7	A	G	18: 61,129,764 (GRCm39)	I614T	probably benign	Het
Slu7	C	A	11: 43,329,044 (GRCm39)	P89T	possibly damaging	Het
Smarcc2	T	C	10: 128,318,061 (GRCm39)	V618A	probably benign	Het
Sorl1	C	T	9: 41,952,369 (GRCm39)	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,794,274 (GRCm39)	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,918,574 (GRCm39)	T66I	probably damaging	Het
Tgtp2	A	G	11: 48,950,165 (GRCm39)	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,536,242 (GRCm39)	F92S	probably damaging	Het
Tmprss9	T	A	10: 80,730,934 (GRCm39)	V820E	probably benign	Het
Tpcn2	A	G	7: 144,822,648 (GRCm39)	Y266H	probably damaging	Het
Trat1	A	G	16: 48,555,304 (GRCm39)	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,049,298 (GRCm39)	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,482,575 (GRCm39)	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,463,890 (GRCm39)	T315S	probably damaging	Het
Wdr36	A	G	18: 32,986,021 (GRCm39)	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397 (GRCm39)	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp648	T	A	1: 154,081,119 (GRCm39)	I426N	probably damaging	Het
Zfp87	T	C	13: 74,520,736 (GRCm39)	N114S	probably benign	Het

Other mutations in Grm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Grm6	APN	11	50,754,124 (GRCm39)	splice site	probably benign
IGL01305:Grm6	APN	11	50,750,346 (GRCm39)	missense	probably benign	0.27
IGL02121:Grm6	APN	11	50,750,483 (GRCm39)	missense	probably damaging	1.00
IGL02413:Grm6	APN	11	50,750,766 (GRCm39)	missense	probably damaging	0.99
ANU22:Grm6	UTSW	11	50,750,346 (GRCm39)	missense	probably benign	0.27
R0089:Grm6	UTSW	11	50,750,792 (GRCm39)	missense	probably damaging	1.00
R0135:Grm6	UTSW	11	50,744,050 (GRCm39)	missense	probably damaging	0.99
R0147:Grm6	UTSW	11	50,750,144 (GRCm39)	missense	possibly damaging	0.89
R1577:Grm6	UTSW	11	50,753,972 (GRCm39)	missense	probably damaging	1.00
R1666:Grm6	UTSW	11	50,750,711 (GRCm39)	missense	probably damaging	1.00
R2923:Grm6	UTSW	11	50,755,348 (GRCm39)	missense	probably damaging	1.00
R4060:Grm6	UTSW	11	50,744,051 (GRCm39)	missense	probably damaging	1.00
R4486:Grm6	UTSW	11	50,750,816 (GRCm39)	missense	probably damaging	0.99
R4488:Grm6	UTSW	11	50,750,816 (GRCm39)	missense	probably damaging	0.99
R4489:Grm6	UTSW	11	50,750,816 (GRCm39)	missense	probably damaging	0.99
R4646:Grm6	UTSW	11	50,748,033 (GRCm39)	missense	probably benign	0.03
R4701:Grm6	UTSW	11	50,753,837 (GRCm39)	missense	probably damaging	1.00
R4785:Grm6	UTSW	11	50,748,104 (GRCm39)	missense	probably benign	0.00
R4860:Grm6	UTSW	11	50,755,439 (GRCm39)	missense	probably benign	0.31
R5603:Grm6	UTSW	11	50,747,786 (GRCm39)	missense	probably damaging	1.00
R6104:Grm6	UTSW	11	50,750,144 (GRCm39)	missense	possibly damaging	0.89
R6746:Grm6	UTSW	11	50,747,790 (GRCm39)	missense	probably damaging	1.00
R6791:Grm6	UTSW	11	50,750,601 (GRCm39)	missense	possibly damaging	0.74
R6802:Grm6	UTSW	11	50,744,216 (GRCm39)	missense	probably benign	0.24
R6856:Grm6	UTSW	11	50,750,652 (GRCm39)	missense	probably damaging	1.00
R7102:Grm6	UTSW	11	50,753,804 (GRCm39)	missense	possibly damaging	0.87
R7221:Grm6	UTSW	11	50,753,870 (GRCm39)	missense	probably damaging	0.97
R7727:Grm6	UTSW	11	50,742,369 (GRCm39)	missense	probably benign	0.02
R7783:Grm6	UTSW	11	50,753,909 (GRCm39)	missense	probably damaging	1.00
R7876:Grm6	UTSW	11	50,750,457 (GRCm39)	missense	probably damaging	1.00
R8006:Grm6	UTSW	11	50,755,484 (GRCm39)	makesense	probably null
R8985:Grm6	UTSW	11	50,746,537 (GRCm39)	missense	possibly damaging	0.94
R9666:Grm6	UTSW	11	50,750,877 (GRCm39)	missense	probably damaging	1.00
X0025:Grm6	UTSW	11	50,753,922 (GRCm39)	missense	probably damaging	1.00
Z1176:Grm6	UTSW	11	50,750,364 (GRCm39)	missense	probably benign	0.43
Z1177:Grm6	UTSW	11	50,750,694 (GRCm39)	missense	probably damaging	1.00
Z1177:Grm6	UTSW	11	50,742,327 (GRCm39)	missense	probably benign	0.00
Z1177:Grm6	UTSW	11	50,742,089 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TGACTCGTTCCCTGGAGAACAACC -3'
(R):5'- TGGCACCCACTCACCATTGAAG -3'

Sequencing Primer
(F):5'- CCGCAGAAACATCTGGTTTG -3'
(R):5'- TCACCATTGAAGCGGACTG -3'

Posted On

2014-04-13