Mutagenetix > Incidental Mutation

Incidental Mutation 'R1666:Grm6'

187209

Institutional Source

Beutler Lab

Gene Symbol

Grm6

Ensembl Gene

ENSMUSG00000000617

Gene Name

glutamate receptor, metabotropic 6

Synonyms

nob3, mGluR6, nerg1

MMRRC Submission

039702-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1666 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

50741512-50757035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50750711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 625 (I625F)

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: I625F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: I625F

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

probably damaging
Transcript: ENSMUST00000171427
AA Change: I625F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: I625F

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

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. [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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	G	A	15: 101,035,458 (GRCm39)	R328H	probably damaging	Het
Afp	T	C	5: 90,652,927 (GRCm39)	S466P	probably damaging	Het
Arhgap45	A	G	10: 79,864,584 (GRCm39)	S879G	possibly damaging	Het
Asic1	A	G	15: 99,597,006 (GRCm39)	D556G	probably damaging	Het
Atp2a3	T	A	11: 72,869,633 (GRCm39)		probably null	Het
Brinp2	C	A	1: 158,074,128 (GRCm39)	E664D	probably damaging	Het
Cap2	C	A	13: 46,768,799 (GRCm39)	H147N	probably damaging	Het
Cd209f	G	A	8: 4,154,862 (GRCm39)	Q79*	probably null	Het
Chrna7	T	C	7: 62,861,890 (GRCm39)	Y54C	possibly damaging	Het
Clec1a	T	C	6: 129,413,967 (GRCm39)	D40G	probably benign	Het
Col11a1	A	G	3: 113,855,184 (GRCm39)	E148G	unknown	Het
Comp	A	T	8: 70,831,607 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,665,460 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,521,646 (GRCm39)	N13K	probably damaging	Het
Cyp2c50	A	T	19: 40,079,499 (GRCm39)	M198L	probably benign	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Elapor1	A	G	3: 108,377,313 (GRCm39)	S434P	probably benign	Het
Epb41l4a	A	G	18: 34,054,962 (GRCm39)	L42P	probably damaging	Het
Exo1	T	C	1: 175,736,052 (GRCm39)	I812T	possibly damaging	Het
Fbxl17	A	T	17: 63,692,060 (GRCm39)		probably null	Het
Fxn	A	G	19: 24,239,377 (GRCm39)	Y172H	probably damaging	Het
Gabra6	A	G	11: 42,208,461 (GRCm39)	S124P	probably damaging	Het
Gje1	C	A	10: 14,592,551 (GRCm39)	W77L	possibly damaging	Het
Glra1	A	G	11: 55,465,225 (GRCm39)	S23P	probably damaging	Het
Gm6811	T	C	17: 21,314,529 (GRCm39)		noncoding transcript	Het
Greb1l	T	A	18: 10,501,080 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,529,708 (GRCm39)		probably null	Het
Guca1a	A	G	17: 47,711,167 (GRCm39)	F60L	probably damaging	Het
Hectd1	T	A	12: 51,800,607 (GRCm39)	E2070D	possibly damaging	Het
Itga5	G	A	15: 103,256,329 (GRCm39)	T910I	probably benign	Het
Kctd10	A	G	5: 114,507,051 (GRCm39)	V142A	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Lmtk3	A	T	7: 45,443,588 (GRCm39)	D757V	probably benign	Het
Lpcat1	T	C	13: 73,658,242 (GRCm39)		probably null	Het
Lrrc30	A	T	17: 67,939,200 (GRCm39)	C127S	probably benign	Het
Mc4r	A	G	18: 66,992,480 (GRCm39)	L211P	probably damaging	Het
Mgat5b	T	A	11: 116,874,474 (GRCm39)	N635K	probably benign	Het
Mms19	A	T	19: 41,940,995 (GRCm39)	M443K	possibly damaging	Het
Mroh5	T	C	15: 73,659,754 (GRCm39)	N359S	probably benign	Het
Nlrc4	G	A	17: 74,752,901 (GRCm39)	T494M	probably damaging	Het
Ntf3	T	C	6: 126,079,401 (GRCm39)	D35G	possibly damaging	Het
Or5g25	A	T	2: 85,478,157 (GRCm39)	C169*	probably null	Het
Osbpl5	T	C	7: 143,262,776 (GRCm39)	H192R	probably damaging	Het
Parp4	A	T	14: 56,861,620 (GRCm39)	K984N	possibly damaging	Het
Pdgfra	G	A	5: 75,349,681 (GRCm39)	G892D	possibly damaging	Het
Pik3c2g	A	T	6: 139,612,634 (GRCm39)		probably benign	Het
Ppcdc	T	A	9: 57,321,998 (GRCm39)	M181L	possibly damaging	Het
Pramel7	G	A	2: 87,322,747 (GRCm39)	P6S	probably damaging	Het
Prkcz	G	T	4: 155,374,208 (GRCm39)	F69L	probably damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Ptgs2	A	G	1: 149,977,021 (GRCm39)	Y44C	probably damaging	Het
Rbck1	T	A	2: 152,158,819 (GRCm39)	S488C	probably damaging	Het
Rbl1	T	C	2: 157,001,654 (GRCm39)	Y878C	probably damaging	Het
Rbm6	G	A	9: 107,669,055 (GRCm39)	T619I	probably benign	Het
Rp1	A	G	1: 4,420,086 (GRCm39)	I342T	probably damaging	Het
Rpn2	C	T	2: 157,136,075 (GRCm39)	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,186,837 (GRCm39)	V542I	probably benign	Het
Sema5b	C	T	16: 35,478,852 (GRCm39)	P559S	probably benign	Het
Serpinb3d	A	G	1: 107,008,481 (GRCm39)	V128A	probably benign	Het
Slc35f3	T	A	8: 127,115,960 (GRCm39)	S296T	probably damaging	Het
Slco1a8	T	A	6: 141,927,775 (GRCm39)		probably null	Het
Smarca2	A	G	19: 26,624,434 (GRCm39)	I365V	possibly damaging	Het
Spdya	T	A	17: 71,885,235 (GRCm39)	C230S	probably damaging	Het
Sv2b	G	A	7: 74,856,089 (GRCm39)	A67V	probably benign	Het
Tapbpl	A	G	6: 125,207,164 (GRCm39)	V175A	probably benign	Het
Tmt1a3	A	G	15: 100,233,099 (GRCm39)	I97V	probably benign	Het
Ttn	T	C	2: 76,642,095 (GRCm39)	T13373A	probably damaging	Het
Tubb5	A	T	17: 36,147,530 (GRCm39)	N52K	probably benign	Het
Tyr	T	A	7: 87,142,149 (GRCm39)	Y137F	probably damaging	Het
Unc45b	T	A	11: 82,808,565 (GRCm39)	I217N	probably benign	Het
Vmn1r202	A	T	13: 22,685,540 (GRCm39)	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,877,704 (GRCm39)	M91T	probably benign	Het
Washc2	T	A	6: 116,200,215 (GRCm39)		probably null	Het
Zfp566	A	T	7: 29,777,901 (GRCm39)	H93Q	probably benign	Het
Zfp740	A	G	15: 102,116,753 (GRCm39)	D56G	probably damaging	Het
Zfp804b	A	C	5: 6,821,323 (GRCm39)	L580R	possibly damaging	Het
Zmiz2	T	G	11: 6,346,836 (GRCm39)	S148R	probably benign	Het
Zmym6	T	A	4: 127,016,652 (GRCm39)	I719N	probably damaging	Het
Zyx	T	A	6: 42,332,966 (GRCm39)	V372E	possibly damaging	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
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
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'- ATGGAAGCTCTACAGTGGTCAGGC -3'
(R):5'- CCCTTGCTCGAAAATGCGGTAGATG -3'

Sequencing Primer
(F):5'- TGTCCAGGGCACATGAGAC -3'
(R):5'- ATGCGGTAGATGCGGTTGG -3'

Posted On

2014-05-09