Mutagenetix > Incidental Mutation

Incidental Mutation 'R1902:Grm8'

212322

Institutional Source

Beutler Lab

Gene Symbol

Grm8

Ensembl Gene

ENSMUSG00000024211

Gene Name

glutamate receptor, metabotropic 8

Synonyms

mGluR8, Gprc1h

MMRRC Submission

039922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27275120-28135094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27429481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 471 (Y471C)

Ref Sequence

ENSEMBL: ENSMUSP00000110979 (fasta)

Gene Model

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

AlphaFold

P47743

Predicted Effect

probably damaging
Transcript: ENSMUST00000090512
AA Change: Y471C

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

SMART Domains

Protein: ENSMUSP00000087998
Gene: ENSMUSG00000024211
AA Change: Y471C

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

probably damaging
Transcript: ENSMUST00000115323
AA Change: Y471C

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

SMART Domains

Protein: ENSMUSP00000110978
Gene: ENSMUSG00000024211
AA Change: Y471C

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

probably damaging
Transcript: ENSMUST00000115324
AA Change: Y471C

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

SMART Domains

Protein: ENSMUSP00000110979
Gene: ENSMUSG00000024211
AA Change: Y471C

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: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.7%

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	T	12: 18,584,004 (GRCm39)	Q355*	probably null	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adra1a	T	C	14: 66,875,684 (GRCm39)	S220P	probably benign	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgap45	C	A	10: 79,861,300 (GRCm39)	Q488K	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Atxn7l3b	A	G	10: 112,764,578 (GRCm39)	I17T	probably benign	Het
Bpifb9a	A	T	2: 154,103,911 (GRCm39)	N118I	probably benign	Het
Btbd9	A	T	17: 30,749,202 (GRCm39)	D37E	probably damaging	Het
C8a	T	C	4: 104,713,798 (GRCm39)		probably null	Het
Capn13	G	A	17: 73,633,356 (GRCm39)	S535F	probably damaging	Het
Carns1	G	T	19: 4,216,337 (GRCm39)	P615Q	probably damaging	Het
Casz1	T	C	4: 149,020,652 (GRCm39)	I479T	possibly damaging	Het
Ccdc88a	G	T	11: 29,411,788 (GRCm39)	M532I	probably benign	Het
Cdc42bpb	T	G	12: 111,292,450 (GRCm39)	S362R	probably damaging	Het
Ceacam11	A	T	7: 17,709,252 (GRCm39)	H150L	probably benign	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Cpeb1	T	C	7: 81,021,867 (GRCm39)	D92G	probably benign	Het
Cped1	T	A	6: 22,120,980 (GRCm39)		probably null	Het
Csf1r	A	G	18: 61,263,213 (GRCm39)	T896A	probably damaging	Het
Csf3r	T	C	4: 125,936,711 (GRCm39)	F658S	probably damaging	Het
Cts6	A	T	13: 61,349,329 (GRCm39)	Y126*	probably null	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Cxcl5	T	C	5: 90,907,644 (GRCm39)	V72A	probably damaging	Het
Cyp4v3	T	A	8: 45,759,989 (GRCm39)	H521L	probably benign	Het
Dct	T	C	14: 118,271,690 (GRCm39)	N380S	probably benign	Het
Dnah1	T	C	14: 31,041,716 (GRCm39)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,574,637 (GRCm39)	D1709G	probably damaging	Het
Dnai1	A	T	4: 41,625,319 (GRCm39)	K428*	probably null	Het
Dsc1	A	T	18: 20,229,045 (GRCm39)	V415D	probably damaging	Het
E2f8	T	C	7: 48,520,920 (GRCm39)	H467R	probably benign	Het
Eddm3b	T	A	14: 51,354,321 (GRCm39)	I103N	probably damaging	Het
Gal3st2c	T	G	1: 93,936,611 (GRCm39)	N185K	probably damaging	Het
Ganc	T	C	2: 120,276,963 (GRCm39)	L675P	probably damaging	Het
Garin3	A	T	11: 46,297,838 (GRCm39)	T381S	probably benign	Het
Gdf9	G	A	11: 53,327,780 (GRCm39)	M245I	probably benign	Het
Gm21886	G	A	18: 80,132,633 (GRCm39)	T175I	probably damaging	Het
Gria2	A	G	3: 80,629,415 (GRCm39)	L269P	probably damaging	Het
Gucy2g	T	A	19: 55,198,669 (GRCm39)	T825S	probably benign	Het
H2-T13	A	T	17: 36,394,845 (GRCm39)	M16K	probably damaging	Het
Iffo2	T	C	4: 139,335,012 (GRCm39)	S124P	probably damaging	Het
Igf1r	T	C	7: 67,850,997 (GRCm39)	Y931H	possibly damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Itgb4	T	C	11: 115,871,564 (GRCm39)	V179A	probably damaging	Het
Itpr2	T	A	6: 146,131,201 (GRCm39)	H1968L	probably damaging	Het
Kdm4a	A	G	4: 118,017,596 (GRCm39)	V490A	probably benign	Het
Kif13a	A	T	13: 46,941,638 (GRCm39)	D946E	probably benign	Het
Klhl22	T	A	16: 17,589,651 (GRCm39)	I104N	probably damaging	Het
Klk6	A	C	7: 43,475,481 (GRCm39)	M1L	probably benign	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Larp7	A	T	3: 127,334,227 (GRCm39)	N533K	probably damaging	Het
Lrit3	T	C	3: 129,584,895 (GRCm39)	T288A	probably benign	Het
Lrp11	T	A	10: 7,499,544 (GRCm39)	L245Q	probably damaging	Het
Lrp1b	T	C	2: 40,750,673 (GRCm39)	S2964G	probably damaging	Het
Lrrc66	C	T	5: 73,764,965 (GRCm39)	V693M	probably damaging	Het
Macf1	T	A	4: 123,364,958 (GRCm39)	M3268L	probably benign	Het
Mad1l1	A	G	5: 140,289,443 (GRCm39)	S161P	possibly damaging	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Morc3	A	G	16: 93,667,385 (GRCm39)	T588A	probably damaging	Het
Mospd3	A	G	5: 137,598,677 (GRCm39)	S21P	probably damaging	Het
Mrpl57	T	A	14: 58,064,186 (GRCm39)	F71L	probably damaging	Het
Mtbp	T	C	15: 55,470,111 (GRCm39)	L594S	probably damaging	Het
Mthfd2	T	C	6: 83,283,713 (GRCm39)	N323S	probably damaging	Het
Muc5b	G	T	7: 141,417,842 (GRCm39)	S3596I	possibly damaging	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncoa1	A	T	12: 4,389,049 (GRCm39)	D75E	possibly damaging	Het
Ncor1	A	C	11: 62,228,984 (GRCm39)	I958S	probably damaging	Het
Nefm	T	C	14: 68,361,563 (GRCm39)	S234G	probably benign	Het
Nlrp4c	T	C	7: 6,068,818 (GRCm39)	S240P	probably damaging	Het
Nox3	C	T	17: 3,720,292 (GRCm39)	V298M	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Nudt13	C	G	14: 20,360,709 (GRCm39)	T174R	probably damaging	Het
Odr4	T	A	1: 150,264,360 (GRCm39)		probably null	Het
Opn1sw	T	A	6: 29,379,803 (GRCm39)	N144Y	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10g3	T	G	14: 52,610,174 (GRCm39)	Q112P	possibly damaging	Het
Or1l8	T	C	2: 36,817,197 (GRCm39)	I310V	probably benign	Het
Or2a52	T	A	6: 43,144,657 (GRCm39)		probably null	Het
Or4a72	A	T	2: 89,405,947 (GRCm39)	L41Q	possibly damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Or5g25	T	C	2: 85,478,201 (GRCm39)	S155G	possibly damaging	Het
Or6c216	G	T	10: 129,678,375 (GRCm39)	P179T	probably benign	Het
Or6n2	T	C	1: 173,897,692 (GRCm39)	V276A	probably damaging	Het
Or8g4	T	C	9: 39,662,102 (GRCm39)	V140A	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Parp14	C	T	16: 35,673,888 (GRCm39)		probably null	Het
Pde3a	C	A	6: 141,444,496 (GRCm39)	N1101K	probably benign	Het
Plcb1	G	A	2: 134,655,533 (GRCm39)	V38I	possibly damaging	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Ppfibp2	C	T	7: 107,345,585 (GRCm39)	P869L	probably damaging	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Pramel5	G	A	4: 144,000,433 (GRCm39)	Q48*	probably null	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Psg22	T	A	7: 18,458,363 (GRCm39)	Y312*	probably null	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
Rasa4	A	G	5: 136,120,092 (GRCm39)	D56G	probably benign	Het
Rif1	T	A	2: 52,006,685 (GRCm39)	N2206K	possibly damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Samd4	T	C	14: 47,311,585 (GRCm39)	F81S	probably damaging	Het
Sh3pxd2b	T	C	11: 32,373,559 (GRCm39)	*909Q	probably null	Het
Slc25a45	A	G	19: 5,934,550 (GRCm39)	R173G	probably damaging	Het
Smarca1	G	A	X: 46,938,840 (GRCm39)	Q723*	probably null	Het
Smoc1	T	C	12: 81,151,445 (GRCm39)	I54T	probably benign	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Steap3	T	G	1: 120,169,464 (GRCm39)	I240L	probably benign	Het
Stmn4	C	T	14: 66,593,058 (GRCm39)	L13F	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Syt3	T	C	7: 44,039,940 (GRCm39)	S58P	possibly damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tbc1d19	T	A	5: 53,986,695 (GRCm39)	C35S	probably benign	Het
Tcaf3	T	C	6: 42,570,486 (GRCm39)	E422G	possibly damaging	Het
Tekt4	T	A	17: 25,690,832 (GRCm39)	F46Y	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,937 (GRCm39)	K148E	probably benign	Het
Trrap	T	G	5: 144,752,863 (GRCm39)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,978,361 (GRCm39)	E137G	probably benign	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Tyro3	T	C	2: 119,632,176 (GRCm39)	I81T	possibly damaging	Het
Upp2	T	G	2: 58,661,464 (GRCm39)	M71R	probably damaging	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vcl	T	A	14: 21,032,767 (GRCm39)	L122Q	probably damaging	Het
Vmn1r213	A	C	13: 23,196,476 (GRCm39)	N353T	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp869	T	C	8: 70,160,088 (GRCm39)	K162E	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
R1471:Grm8	UTSW	6	27,363,308 (GRCm39)	missense	possibly damaging	0.79
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
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'- TCAGCCTGGTCTCTAAGTGTATAATC -3'
(R):5'- ACATGGGTTAAACTCTCCATATCAC -3'

Sequencing Primer
(F):5'- AGAAAATTTGACCTCCCTTGTTC -3'
(R):5'- TCTCCATATCACTTACTACACACAC -3'

Posted On

2014-06-30