Mutagenetix > Incidental Mutation

Incidental Mutation 'R0147:Grm6'

22631

Institutional Source

Beutler Lab

Gene Symbol

Grm6

Ensembl Gene

ENSMUSG00000000617

Gene Name

glutamate receptor, metabotropic 6

Synonyms

nob3, mGluR6, nerg1

MMRRC Submission

038431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0147 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50741512-50757035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50750144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 466 (I466N)

Ref Sequence

ENSEMBL: ENSMUSP00000130728 (fasta)

Gene Model

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

AlphaFold

Q5NCH9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000631
AA Change: I466N

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: I466N

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: ENSMUST00000126890

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171427
AA Change: I466N

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: I466N

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

0.7389

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.5%
20x: 86.1%

Validation Efficiency

67% (88/131)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Abtb2	A	G	2: 103,397,480 (GRCm39)	I137V	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Arl6	T	C	16: 59,439,153 (GRCm39)		probably benign	Het
Avl9	T	A	6: 56,713,487 (GRCm39)	D248E	probably benign	Het
Becn1	T	C	11: 101,192,562 (GRCm39)	E40G	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Btbd16	C	T	7: 130,381,324 (GRCm39)	T19I	probably damaging	Het
Casc3	T	A	11: 98,713,325 (GRCm39)	N246K	possibly damaging	Het
Celf1	G	T	2: 90,835,035 (GRCm39)		probably benign	Het
Chrm3	G	T	13: 9,928,780 (GRCm39)	N85K	probably damaging	Het
Cluh	T	A	11: 74,556,764 (GRCm39)	Y935N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,802,993 (GRCm39)	D1324G	unknown	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
D630003M21Rik	C	T	2: 158,044,987 (GRCm39)		probably benign	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dnmt3b	T	G	2: 153,503,377 (GRCm39)	N9K	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fam98c	T	A	7: 28,852,146 (GRCm39)	R340*	probably null	Het
Fbxw10	T	G	11: 62,738,307 (GRCm39)		probably null	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Grid2	T	C	6: 64,510,571 (GRCm39)	Y734H	probably benign	Het
Hectd3	T	C	4: 116,854,237 (GRCm39)		probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Ip6k1	T	A	9: 107,923,093 (GRCm39)	D408E	probably damaging	Het
Irs2	A	T	8: 11,057,568 (GRCm39)	M288K	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Knop1	C	A	7: 118,445,061 (GRCm39)	R301L	probably benign	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mprip	T	A	11: 59,627,899 (GRCm39)	D93E	possibly damaging	Het
Mtmr14	T	A	6: 113,237,627 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,364,776 (GRCm39)	S1917P	probably benign	Het
Muc6	C	T	7: 141,238,255 (GRCm39)	C75Y	probably damaging	Het
Naip1	A	T	13: 100,563,418 (GRCm39)	H582Q	possibly damaging	Het
Nbeal2	G	A	9: 110,471,211 (GRCm39)	R264*	probably null	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nsmce2	T	G	15: 59,250,806 (GRCm39)	S26A	probably damaging	Het
Or52s19	T	C	7: 103,007,613 (GRCm39)	T263A	possibly damaging	Het
Or5m13b	T	A	2: 85,754,362 (GRCm39)	I250N	possibly damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pax1	A	G	2: 147,215,654 (GRCm39)	S424G	probably benign	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Plxna1	C	T	6: 89,297,692 (GRCm39)	A1831T	possibly damaging	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Pygo2	T	C	3: 89,340,610 (GRCm39)	V299A	probably damaging	Het
Raf1	C	T	6: 115,609,934 (GRCm39)	G202S	probably benign	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,322,328 (GRCm39)	R594C	probably damaging	Het
Rnf13	A	G	3: 57,709,889 (GRCm39)	D144G	probably damaging	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Sec23ip	C	T	7: 128,380,775 (GRCm39)		probably benign	Het
Slc25a26	T	A	6: 94,569,507 (GRCm39)		probably null	Het
Slc6a7	A	G	18: 61,135,183 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,562 (GRCm39)		noncoding transcript	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Spata22	T	A	11: 73,221,979 (GRCm39)	M1K	probably null	Het
Svep1	C	T	4: 58,116,608 (GRCm39)	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tasor	A	G	14: 27,193,725 (GRCm39)	D975G	probably benign	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tm9sf4	G	T	2: 153,037,233 (GRCm39)	V365L	probably benign	Het
Tmc3	T	C	7: 83,256,950 (GRCm39)	V401A	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Unc5b	A	T	10: 60,608,076 (GRCm39)	S675T	probably damaging	Het
Vmn1r217	A	G	13: 23,298,107 (GRCm39)	M265T	probably benign	Het
Vps54	T	A	11: 21,250,259 (GRCm39)	D548E	probably benign	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfp710	T	A	7: 79,731,721 (GRCm39)	C299*	probably null	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
R1498:Grm6	UTSW	11	50,748,083 (GRCm39)	missense	probably damaging	1.00
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'- GCTGCACTCATTGCTAACGAGCAC -3'
(R):5'- TGACCACTGTAGAGCTTCCATCTGG -3'

Sequencing Primer
(F):5'- ATTGCTAACGAGCACTGCTG -3'
(R):5'- TTCCATCTGGGGCAGATAAAAAC -3'

Posted On

2013-04-16