Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Grm6'

595575

Institutional Source

Beutler Lab

Gene Symbol

Grm6

Ensembl Gene

ENSMUSG00000000617

Gene Name

glutamate receptor, metabotropic 6

Synonyms

nerg1, nob2, mGluR6, nob3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50850685-50866208 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50851542 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 134 (A134E)

Ref Sequence

ENSEMBL: ENSMUSP00000000631 (fasta)

Gene Model

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

AlphaFold

Q5NCH9

Predicted Effect

probably benign
Transcript: ENSMUST00000000631
AA Change: A134E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: A134E

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

probably benign
Transcript: ENSMUST00000171427
AA Change: A134E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: A134E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Grm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Grm6	APN	11	50863297	splice site	probably benign
IGL01305:Grm6	APN	11	50859519	missense	probably benign	0.27
IGL02121:Grm6	APN	11	50859656	missense	probably damaging	1.00
IGL02413:Grm6	APN	11	50859939	missense	probably damaging	0.99
ANU22:Grm6	UTSW	11	50859519	missense	probably benign	0.27
R0089:Grm6	UTSW	11	50859965	missense	probably damaging	1.00
R0135:Grm6	UTSW	11	50853223	missense	probably damaging	0.99
R0147:Grm6	UTSW	11	50859317	missense	possibly damaging	0.89
R1498:Grm6	UTSW	11	50857256	missense	probably damaging	1.00
R1577:Grm6	UTSW	11	50863145	missense	probably damaging	1.00
R1666:Grm6	UTSW	11	50859884	missense	probably damaging	1.00
R2923:Grm6	UTSW	11	50864521	missense	probably damaging	1.00
R4060:Grm6	UTSW	11	50853224	missense	probably damaging	1.00
R4486:Grm6	UTSW	11	50859989	missense	probably damaging	0.99
R4488:Grm6	UTSW	11	50859989	missense	probably damaging	0.99
R4489:Grm6	UTSW	11	50859989	missense	probably damaging	0.99
R4646:Grm6	UTSW	11	50857206	missense	probably benign	0.03
R4701:Grm6	UTSW	11	50863010	missense	probably damaging	1.00
R4785:Grm6	UTSW	11	50857277	missense	probably benign	0.00
R4860:Grm6	UTSW	11	50864612	missense	probably benign	0.31
R5603:Grm6	UTSW	11	50856959	missense	probably damaging	1.00
R6104:Grm6	UTSW	11	50859317	missense	possibly damaging	0.89
R6746:Grm6	UTSW	11	50856963	missense	probably damaging	1.00
R6791:Grm6	UTSW	11	50859774	missense	possibly damaging	0.74
R6802:Grm6	UTSW	11	50853389	missense	probably benign	0.24
R6856:Grm6	UTSW	11	50859825	missense	probably damaging	1.00
R7102:Grm6	UTSW	11	50862977	missense	possibly damaging	0.87
R7221:Grm6	UTSW	11	50863043	missense	probably damaging	0.97
R7783:Grm6	UTSW	11	50863082	missense	probably damaging	1.00
R7876:Grm6	UTSW	11	50859630	missense	probably damaging	1.00
R8006:Grm6	UTSW	11	50864657	makesense	probably null
R8985:Grm6	UTSW	11	50855710	missense	possibly damaging	0.94
R9666:Grm6	UTSW	11	50860050	missense	probably damaging	1.00
X0025:Grm6	UTSW	11	50863095	missense	probably damaging	1.00
Z1176:Grm6	UTSW	11	50859537	missense	probably benign	0.43
Z1177:Grm6	UTSW	11	50851262	missense	probably benign	0.40
Z1177:Grm6	UTSW	11	50851500	missense	probably benign	0.00
Z1177:Grm6	UTSW	11	50859867	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTAACTTCCTTTCCCGCAG -3'
(R):5'- ATCTGCCTCTGTGGACAAAAC -3'

Sequencing Primer
(F):5'- ATGCTCTACGCGCTGGAC -3'
(R):5'- CTGTGGACAAAACCTTTTTAATCTGG -3'

Posted On

2019-11-12