Mutagenetix > Incidental Mutation

Incidental Mutation 'R6440:Grm7'

518970

Institutional Source

Beutler Lab

Gene Symbol

Grm7

Ensembl Gene

ENSMUSG00000056755

Gene Name

glutamate receptor, metabotropic 7

Synonyms

6330570A01Rik, Gpr1g, mGlu7a receptor, mGluR7, E130018M02Rik

MMRRC Submission

044578-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110622542-111544191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111230981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 468 (N468I)

Ref Sequence

ENSEMBL: ENSMUSP00000064404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071076] [ENSMUST00000172951] [ENSMUST00000174018]

AlphaFold

Q68ED2

Predicted Effect

probably damaging
Transcript: ENSMUST00000071076
AA Change: N468I

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

SMART Domains

Protein: ENSMUSP00000064404
Gene: ENSMUSG00000056755
AA Change: N468I

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:ANF_receptor	77	484	3e-108	PFAM
Pfam:Peripla_BP_6	144	371	3e-11	PFAM
Pfam:NCD3G	519	569	1.2e-13	PFAM
Pfam:7tm_3	602	847	5.1e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172951
AA Change: N468I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133957
Gene: ENSMUSG00000056755
AA Change: N468I

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:ANF_receptor	77	484	1.7e-103	PFAM
Pfam:Peripla_BP_6	144	487	1e-12	PFAM
Pfam:NCD3G	519	569	1.2e-17	PFAM
Pfam:7tm_3	600	848	1.4e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174018

SMART Domains

Protein: ENSMUSP00000134635
Gene: ENSMUSG00000056755

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:ANF_receptor	77	176	4.9e-20	PFAM

Meta Mutation Damage Score

0.7452

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.7%

Validation Efficiency

100% (40/40)

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 it 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 three 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Nullizygous mice exhibit epilepsy and deficits in fear response and conditioned taste aversion. Homozygotes for a knock-in allele show impaired spatial working memory and higher susceptibility to PTZ. Homozygotes for a reporter allele show impaired coordination and higher susceptibility to metrazol. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,101,744 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,942,341 (GRCm39)	Q684*	probably null	Het
Ahi1	T	A	10: 20,835,981 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,133,631 (GRCm39)	T1070A	probably damaging	Het
B3gnt9	C	T	8: 105,980,531 (GRCm39)		probably null	Het
C3ar1	G	T	6: 122,827,467 (GRCm39)	A250E	probably damaging	Het
Caprin2	A	G	6: 148,771,143 (GRCm39)	F284L	probably damaging	Het
Cdc25a	T	C	9: 109,710,566 (GRCm39)	I90T	probably benign	Het
Cdh9	A	T	15: 16,823,509 (GRCm39)	T164S	probably benign	Het
Ces2a	C	T	8: 105,467,954 (GRCm39)	A528V	probably benign	Het
Cyp2c70	T	C	19: 40,145,250 (GRCm39)	N402S	possibly damaging	Het
F3	A	G	3: 121,518,686 (GRCm39)	E50G	probably damaging	Het
Fli1	A	T	9: 32,335,197 (GRCm39)	S412T	probably benign	Het
Flt1	T	A	5: 147,501,115 (GRCm39)	D1306V	possibly damaging	Het
Ggt7	T	C	2: 155,340,731 (GRCm39)	D424G	probably damaging	Het
Htr5a	T	A	5: 28,055,870 (GRCm39)	V287E	probably damaging	Het
Map3k21	T	C	8: 126,637,876 (GRCm39)	V154A	probably damaging	Het
Muc16	A	G	9: 18,552,655 (GRCm39)	V4546A	probably benign	Het
Ncbp1	A	G	4: 46,147,516 (GRCm39)	Y121C	probably damaging	Het
Nckap1l	C	A	15: 103,379,659 (GRCm39)	Y315*	probably null	Het
Ntpcr	T	A	8: 126,471,981 (GRCm39)	S64T	probably damaging	Het
Or1e1c	A	T	11: 73,266,173 (GRCm39)	E202D	probably benign	Het
Or6c215	A	G	10: 129,637,837 (GRCm39)	S186P	probably damaging	Het
Or7e175	T	C	9: 20,048,490 (GRCm39)	F26S	probably damaging	Het
Pate9	T	A	9: 36,453,168 (GRCm39)	M1L	probably benign	Het
Pde4dip	A	G	3: 97,674,902 (GRCm39)	C5R	probably damaging	Het
Pgap2	T	A	7: 101,886,594 (GRCm39)		probably null	Het
Pik3r6	T	C	11: 68,424,522 (GRCm39)	W376R	probably benign	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Pms1	T	C	1: 53,234,180 (GRCm39)	K779E	probably damaging	Het
Prss16	A	G	13: 22,187,330 (GRCm39)	V98A	probably damaging	Het
Robo2	C	T	16: 73,713,010 (GRCm39)	D1287N	probably benign	Het
Sgsm1	A	G	5: 113,426,997 (GRCm39)		probably null	Het
Slc40a1	A	T	1: 45,964,422 (GRCm39)	M1K	probably null	Het
Smo	A	G	6: 29,756,813 (GRCm39)	H437R	possibly damaging	Het
Sult3a1	T	C	10: 33,746,198 (GRCm39)	Y173H	possibly damaging	Het
Svep1	T	A	4: 58,116,555 (GRCm39)	R898S	possibly damaging	Het
Synpo2l	A	G	14: 20,718,244 (GRCm39)	V7A	probably damaging	Het
Thsd1	C	T	8: 22,748,569 (GRCm39)	A427V	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,754 (GRCm39)	G164S	probably benign	Het
Zfp235	A	G	7: 23,840,040 (GRCm39)	K153R	probably damaging	Het

Other mutations in Grm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01729:Grm7	APN	6	111,223,145 (GRCm39)	missense	probably benign	0.14
IGL02058:Grm7	APN	6	111,335,278 (GRCm39)	missense	probably damaging	1.00
IGL02650:Grm7	APN	6	111,335,919 (GRCm39)	missense	probably damaging	1.00
IGL02892:Grm7	APN	6	111,230,981 (GRCm39)	missense	probably damaging	0.99
IGL03074:Grm7	APN	6	111,472,604 (GRCm39)	splice site	probably null
IGL03185:Grm7	APN	6	110,623,183 (GRCm39)	missense	possibly damaging	0.84
Appropriated	UTSW	6	111,472,642 (GRCm39)	missense	possibly damaging	0.64
Consumed	UTSW	6	111,335,836 (GRCm39)	missense	probably damaging	1.00
Devoured	UTSW	6	111,335,785 (GRCm39)	missense	probably damaging	1.00
Ravaged	UTSW	6	111,335,874 (GRCm39)	missense	probably damaging	1.00
shaky	UTSW	6	111,472,752 (GRCm39)	nonsense	probably null
PIT4651001:Grm7	UTSW	6	110,623,050 (GRCm39)	missense	probably benign
R0539:Grm7	UTSW	6	111,336,055 (GRCm39)	splice site	probably benign
R0622:Grm7	UTSW	6	111,335,457 (GRCm39)	missense	probably damaging	1.00
R1356:Grm7	UTSW	6	111,335,985 (GRCm39)	missense	probably damaging	1.00
R1762:Grm7	UTSW	6	111,335,256 (GRCm39)	missense	probably damaging	1.00
R1783:Grm7	UTSW	6	111,335,256 (GRCm39)	missense	probably damaging	1.00
R1785:Grm7	UTSW	6	111,335,256 (GRCm39)	missense	probably damaging	1.00
R1816:Grm7	UTSW	6	111,472,752 (GRCm39)	nonsense	probably null
R1823:Grm7	UTSW	6	111,184,730 (GRCm39)	missense	probably benign	0.17
R1864:Grm7	UTSW	6	111,057,384 (GRCm39)	missense	probably benign	0.03
R1894:Grm7	UTSW	6	111,335,568 (GRCm39)	missense	probably benign
R1987:Grm7	UTSW	6	110,891,472 (GRCm39)	missense	probably damaging	1.00
R1993:Grm7	UTSW	6	111,184,769 (GRCm39)	missense	probably benign	0.13
R2138:Grm7	UTSW	6	110,623,098 (GRCm39)	missense	probably damaging	1.00
R2214:Grm7	UTSW	6	111,335,958 (GRCm39)	missense	probably damaging	1.00
R2289:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R2296:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R2339:Grm7	UTSW	6	111,472,642 (GRCm39)	missense	possibly damaging	0.64
R2847:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R2849:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R2879:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R2884:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R2921:Grm7	UTSW	6	111,472,866 (GRCm39)	splice site	probably null
R2923:Grm7	UTSW	6	111,472,866 (GRCm39)	splice site	probably null
R3014:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R3015:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R3703:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R3713:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R3963:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R4009:Grm7	UTSW	6	111,472,683 (GRCm39)	missense	probably damaging	1.00
R4091:Grm7	UTSW	6	110,891,301 (GRCm39)	missense	probably damaging	1.00
R4131:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R4132:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R4161:Grm7	UTSW	6	111,230,981 (GRCm39)	missense	probably damaging	0.99
R4329:Grm7	UTSW	6	110,891,325 (GRCm39)	missense	probably damaging	1.00
R4357:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R4359:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R4379:Grm7	UTSW	6	111,223,335 (GRCm39)	missense	probably benign	0.05
R4379:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R4380:Grm7	UTSW	6	110,623,309 (GRCm39)	missense	probably damaging	1.00
R4514:Grm7	UTSW	6	111,335,265 (GRCm39)	missense	possibly damaging	0.81
R4518:Grm7	UTSW	6	110,891,507 (GRCm39)	splice site	probably null
R4647:Grm7	UTSW	6	110,891,344 (GRCm39)	nonsense	probably null
R4714:Grm7	UTSW	6	111,057,383 (GRCm39)	missense	possibly damaging	0.52
R4775:Grm7	UTSW	6	110,891,332 (GRCm39)	missense	probably damaging	1.00
R4957:Grm7	UTSW	6	111,335,824 (GRCm39)	missense	probably damaging	1.00
R5056:Grm7	UTSW	6	111,057,404 (GRCm39)	missense	probably damaging	0.99
R5062:Grm7	UTSW	6	110,623,097 (GRCm39)	missense	probably damaging	1.00
R5256:Grm7	UTSW	6	111,335,182 (GRCm39)	missense	probably benign	0.01
R5431:Grm7	UTSW	6	111,335,387 (GRCm39)	missense	probably benign
R6026:Grm7	UTSW	6	111,478,500 (GRCm39)	nonsense	probably null
R6174:Grm7	UTSW	6	111,223,258 (GRCm39)	missense	probably benign
R6305:Grm7	UTSW	6	111,335,626 (GRCm39)	missense	probably damaging	1.00
R6318:Grm7	UTSW	6	111,335,836 (GRCm39)	missense	probably damaging	1.00
R6519:Grm7	UTSW	6	111,184,713 (GRCm39)	missense	probably benign	0.00
R6531:Grm7	UTSW	6	111,335,386 (GRCm39)	missense	probably benign	0.29
R6888:Grm7	UTSW	6	111,335,314 (GRCm39)	missense	possibly damaging	0.79
R6949:Grm7	UTSW	6	111,472,690 (GRCm39)	missense	probably damaging	1.00
R6949:Grm7	UTSW	6	110,623,265 (GRCm39)	missense	probably benign	0.03
R6989:Grm7	UTSW	6	111,184,766 (GRCm39)	missense	probably damaging	1.00
R7076:Grm7	UTSW	6	111,335,113 (GRCm39)	missense	probably benign	0.04
R7203:Grm7	UTSW	6	111,335,530 (GRCm39)	missense	possibly damaging	0.94
R7208:Grm7	UTSW	6	111,335,530 (GRCm39)	missense	possibly damaging	0.94
R7217:Grm7	UTSW	6	111,335,785 (GRCm39)	missense	probably damaging	1.00
R7257:Grm7	UTSW	6	110,623,079 (GRCm39)	missense	probably damaging	1.00
R7297:Grm7	UTSW	6	110,622,974 (GRCm39)	missense	probably benign	0.16
R7470:Grm7	UTSW	6	111,478,476 (GRCm39)	missense
R7567:Grm7	UTSW	6	111,335,722 (GRCm39)	missense	probably damaging	0.96
R7806:Grm7	UTSW	6	111,223,314 (GRCm39)	nonsense	probably null
R8018:Grm7	UTSW	6	111,184,737 (GRCm39)	missense	probably benign	0.01
R8076:Grm7	UTSW	6	111,543,000 (GRCm39)	missense	probably damaging	1.00
R8409:Grm7	UTSW	6	110,891,297 (GRCm39)	missense	probably benign	0.02
R8420:Grm7	UTSW	6	111,057,315 (GRCm39)	missense	probably benign
R8523:Grm7	UTSW	6	111,223,280 (GRCm39)	missense	possibly damaging	0.76
R8816:Grm7	UTSW	6	111,230,966 (GRCm39)	missense	possibly damaging	0.46
R8958:Grm7	UTSW	6	111,472,783 (GRCm39)	missense	probably damaging	0.96
R9135:Grm7	UTSW	6	111,472,729 (GRCm39)	missense	probably benign	0.39
R9207:Grm7	UTSW	6	111,335,874 (GRCm39)	missense	probably damaging	1.00
R9210:Grm7	UTSW	6	110,622,869 (GRCm39)	missense	probably benign	0.01
R9438:Grm7	UTSW	6	111,231,077 (GRCm39)	missense	possibly damaging	0.94
R9448:Grm7	UTSW	6	111,335,193 (GRCm39)	missense	probably benign	0.01
Z1176:Grm7	UTSW	6	111,335,451 (GRCm39)	missense	probably damaging	1.00
Z1176:Grm7	UTSW	6	111,335,110 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGGCTTAGAATGAAAAGCTTCTG -3'
(R):5'- ACCAAATTGCATGCGTGGTTC -3'

Sequencing Primer
(F):5'- GCTTCTGAAAGATCATGAATAAAGCC -3'
(R):5'- CGTGGTTCTATACATGGAAAAGCAC -3'

Posted On

2018-05-24