Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Grm5'

296190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grm5

Ensembl Gene

ENSMUSG00000049583

Gene Name

glutamate receptor, metabotropic 5

Synonyms

Glu5R, mGluR5, 6430542K11Rik, Gprc1e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

IGL02504

Quality Score

Status

Chromosome

Chromosomal Location

87584168-88134907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88130772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1172 (N1172S)

Ref Sequence

ENSEMBL: ENSMUSP00000114927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107263] [ENSMUST00000125009] [ENSMUST00000155358]

AlphaFold

Q3UVX5

Predicted Effect

probably benign
Transcript: ENSMUST00000107263
AA Change: N1140S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: N1140S

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:ANF_receptor	67	471	5.4e-97	PFAM
Pfam:Peripla_BP_6	130	332	2.5e-14	PFAM
Pfam:NCD3G	506	557	4.5e-20	PFAM
Pfam:7tm_3	588	824	7.4e-75	PFAM
low complexity region	851	860	N/A	INTRINSIC
low complexity region	929	954	N/A	INTRINSIC
low complexity region	968	987	N/A	INTRINSIC
low complexity region	1046	1056	N/A	INTRINSIC
GluR_Homer-bdg	1121	1171	1.42e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125009
AA Change: N1140S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: N1140S

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:ANF_receptor	67	471	5.7e-101	PFAM
Pfam:Peripla_BP_6	129	327	5.4e-12	PFAM
Pfam:NCD3G	506	557	3.2e-16	PFAM
Pfam:7tm_3	590	823	3.5e-56	PFAM
low complexity region	851	860	N/A	INTRINSIC
low complexity region	929	954	N/A	INTRINSIC
low complexity region	968	987	N/A	INTRINSIC
low complexity region	1046	1056	N/A	INTRINSIC
GluR_Homer-bdg	1121	1171	1.42e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155358
AA Change: N1172S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: N1172S

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:ANF_receptor	67	471	4.1e-101	PFAM
Pfam:Peripla_BP_6	129	327	2.5e-12	PFAM
Pfam:NCD3G	506	557	9.4e-17	PFAM
Pfam:7tm_3	590	823	1.3e-56	PFAM
low complexity region	851	860	N/A	INTRINSIC
low complexity region	961	986	N/A	INTRINSIC
low complexity region	1000	1019	N/A	INTRINSIC
low complexity region	1078	1088	N/A	INTRINSIC
GluR_Homer-bdg	1153	1203	1.42e-24	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice have reduced corticostriatal long term potentiation, do not exhibit hyperactivity after cocaine consumption and do not self-administer cocaine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,517,439 (GRCm38)	N142I	probably benign	Het
Asf1b	A	G	8: 83,955,829 (GRCm38)	M1V	probably null	Het
Astn1	T	C	1: 158,502,408 (GRCm38)	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,552,388 (GRCm38)	L692Q	probably damaging	Het
Cd207	T	A	6: 83,677,806 (GRCm38)		probably benign	Het
Chd5	T	A	4: 152,363,322 (GRCm38)	N548K	probably damaging	Het
Col7a1	G	A	9: 108,980,675 (GRCm38)	G2659D	unknown	Het
Cpa6	A	T	1: 10,488,919 (GRCm38)	Y75N	probably benign	Het
Cspg4	G	T	9: 56,885,772 (GRCm38)	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,993,331 (GRCm38)	I155L	probably benign	Het
Dock6	A	G	9: 21,846,655 (GRCm38)	I51T	probably benign	Het
Dse	G	T	10: 34,152,800 (GRCm38)	Q765K	probably benign	Het
Fam219b	A	T	9: 57,538,068 (GRCm38)	M87L	probably benign	Het
Fat3	G	A	9: 15,959,798 (GRCm38)	R3766C	probably damaging	Het
Fcnb	A	C	2: 28,076,594 (GRCm38)	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,768,543 (GRCm38)	N670K	probably damaging	Het
Fsip2	T	A	2: 82,978,855 (GRCm38)	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,226,595 (GRCm38)	H195R	probably damaging	Het
Gm14179	A	T	11: 99,743,177 (GRCm38)			Het
Hsd17b14	A	G	7: 45,556,375 (GRCm38)	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,421,820 (GRCm38)	E12D	probably benign	Het
Kdm2a	T	C	19: 4,356,771 (GRCm38)	N155D	possibly damaging	Het
Klhl24	A	T	16: 20,115,943 (GRCm38)	R389*	probably null	Het
Kmt2b	A	G	7: 30,586,543 (GRCm38)		probably benign	Het
Krt4	T	A	15: 101,919,292 (GRCm38)	I469F	unknown	Het
Mto1	A	T	9: 78,460,927 (GRCm38)	D451V	probably damaging	Het
Muc5b	A	T	7: 141,846,440 (GRCm38)	D477V	unknown	Het
Pcsk5	A	G	19: 17,477,872 (GRCm38)		probably null	Het
Ppil4	T	A	10: 7,820,984 (GRCm38)	Y420*	probably null	Het
Ppp2r5d	A	T	17: 46,700,093 (GRCm38)	D27E	probably benign	Het
Prkd2	T	C	7: 16,857,832 (GRCm38)	L596P	probably damaging	Het
Prr30	T	C	14: 101,198,620 (GRCm38)	I169V	probably benign	Het
Rtl9	A	T	X: 143,102,291 (GRCm38)	T900S	probably benign	Het
Sash1	A	G	10: 8,729,912 (GRCm38)	S905P	probably benign	Het
Scn2a	G	A	2: 65,683,884 (GRCm38)	G304D	probably benign	Het
Scp2d1	T	C	2: 144,823,957 (GRCm38)	L72P	probably damaging	Het
Septin2	T	A	1: 93,500,481 (GRCm38)	H166Q	probably benign	Het
Sgcb	A	G	5: 73,644,375 (GRCm38)	I49T	probably damaging	Het
Smyd4	T	A	11: 75,390,681 (GRCm38)	W327R	probably damaging	Het
Sptbn1	C	T	11: 30,142,293 (GRCm38)	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,679,279 (GRCm38)	H254Q	probably benign	Het
Tll1	A	C	8: 64,070,237 (GRCm38)	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,397,907 (GRCm38)	T127M	probably damaging	Het
Trio	A	T	15: 27,847,390 (GRCm38)	C929*	probably null	Het
Ttn	C	T	2: 76,798,150 (GRCm38)	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,001,541 (GRCm38)	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031 (GRCm38)	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,643,031 (GRCm38)	I82T	probably benign	Het
Usp21	A	G	1: 171,285,023 (GRCm38)	I266T	probably benign	Het
Veph1	A	T	3: 66,172,130 (GRCm38)	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,307,670 (GRCm38)	Y125S	probably benign	Het

Other mutations in Grm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Grm5	APN	7	88,130,781 (GRCm38)	missense	probably benign	0.00
IGL00970:Grm5	APN	7	87,803,896 (GRCm38)	missense	probably damaging	0.97
IGL01286:Grm5	APN	7	87,602,565 (GRCm38)	missense	probably benign	0.00
IGL01307:Grm5	APN	7	88,075,012 (GRCm38)	missense	probably damaging	1.00
IGL01603:Grm5	APN	7	87,603,178 (GRCm38)	missense	probably damaging	1.00
IGL01646:Grm5	APN	7	88,040,059 (GRCm38)	missense	probably damaging	1.00
IGL01705:Grm5	APN	7	88,130,046 (GRCm38)	missense	possibly damaging	0.59
IGL02184:Grm5	APN	7	88,026,442 (GRCm38)	missense	probably damaging	0.98
IGL02689:Grm5	APN	7	87,602,710 (GRCm38)	missense	probably damaging	1.00
IGL02725:Grm5	APN	7	88,074,665 (GRCm38)	missense	probably damaging	1.00
IGL02851:Grm5	APN	7	88,074,710 (GRCm38)	missense	probably damaging	0.98
IGL03106:Grm5	APN	7	88,036,070 (GRCm38)	missense	probably damaging	1.00
IGL03257:Grm5	APN	7	87,602,898 (GRCm38)	missense	possibly damaging	0.69
IGL03291:Grm5	APN	7	88,130,796 (GRCm38)	missense	probably damaging	1.00
BB004:Grm5	UTSW	7	88,036,174 (GRCm38)	missense	probably benign	0.16
BB014:Grm5	UTSW	7	88,036,174 (GRCm38)	missense	probably benign	0.16
R0078:Grm5	UTSW	7	88,074,977 (GRCm38)	missense	probably damaging	1.00
R0314:Grm5	UTSW	7	87,602,955 (GRCm38)	missense	probably damaging	0.97
R0318:Grm5	UTSW	7	87,602,967 (GRCm38)	missense	probably damaging	0.99
R0364:Grm5	UTSW	7	88,074,386 (GRCm38)	missense	probably damaging	1.00
R0380:Grm5	UTSW	7	88,074,376 (GRCm38)	missense	possibly damaging	0.92
R0454:Grm5	UTSW	7	88,130,789 (GRCm38)	missense	probably damaging	1.00
R0494:Grm5	UTSW	7	88,130,781 (GRCm38)	missense	probably benign	0.00
R0562:Grm5	UTSW	7	87,603,019 (GRCm38)	missense	probably damaging	1.00
R1695:Grm5	UTSW	7	88,036,103 (GRCm38)	missense	possibly damaging	0.47
R2012:Grm5	UTSW	7	88,074,872 (GRCm38)	missense	probably damaging	1.00
R2384:Grm5	UTSW	7	87,602,728 (GRCm38)	missense	probably damaging	1.00
R2510:Grm5	UTSW	7	88,036,091 (GRCm38)	missense	probably benign	0.21
R2870:Grm5	UTSW	7	87,602,722 (GRCm38)	missense	possibly damaging	0.85
R2870:Grm5	UTSW	7	87,602,722 (GRCm38)	missense	possibly damaging	0.85
R3861:Grm5	UTSW	7	88,129,994 (GRCm38)	missense	possibly damaging	0.94
R4451:Grm5	UTSW	7	88,075,132 (GRCm38)	critical splice donor site	probably null
R4626:Grm5	UTSW	7	88,130,153 (GRCm38)	missense	probably damaging	1.00
R4728:Grm5	UTSW	7	87,975,288 (GRCm38)	missense	probably damaging	1.00
R4914:Grm5	UTSW	7	88,130,129 (GRCm38)	missense	probably benign	0.00
R5122:Grm5	UTSW	7	88,074,820 (GRCm38)	missense	probably damaging	1.00
R5352:Grm5	UTSW	7	88,074,850 (GRCm38)	missense	probably damaging	1.00
R5361:Grm5	UTSW	7	88,074,496 (GRCm38)	missense	probably damaging	1.00
R5684:Grm5	UTSW	7	88,130,645 (GRCm38)	missense	probably benign
R5715:Grm5	UTSW	7	88,130,256 (GRCm38)	missense	probably benign	0.05
R5759:Grm5	UTSW	7	88,026,600 (GRCm38)	missense	probably damaging	0.96
R5844:Grm5	UTSW	7	87,804,024 (GRCm38)	missense	possibly damaging	0.88
R5889:Grm5	UTSW	7	87,603,073 (GRCm38)	missense	probably damaging	1.00
R6048:Grm5	UTSW	7	88,026,550 (GRCm38)	missense	probably damaging	1.00
R6145:Grm5	UTSW	7	88,026,601 (GRCm38)	missense	probably damaging	1.00
R6232:Grm5	UTSW	7	87,602,430 (GRCm38)	unclassified	probably benign
R6972:Grm5	UTSW	7	87,602,923 (GRCm38)	missense	probably benign	0.02
R7072:Grm5	UTSW	7	88,074,304 (GRCm38)	missense	probably damaging	1.00
R7258:Grm5	UTSW	7	88,074,706 (GRCm38)	missense	probably damaging	0.96
R7316:Grm5	UTSW	7	87,975,265 (GRCm38)	missense	probably benign
R7434:Grm5	UTSW	7	88,130,474 (GRCm38)	missense	probably benign	0.10
R7521:Grm5	UTSW	7	88,074,272 (GRCm38)	missense	possibly damaging	0.86
R7616:Grm5	UTSW	7	88,116,201 (GRCm38)	missense	probably benign
R7631:Grm5	UTSW	7	87,975,305 (GRCm38)	missense	probably damaging	1.00
R7655:Grm5	UTSW	7	88,130,251 (GRCm38)	missense	probably benign	0.00
R7656:Grm5	UTSW	7	88,130,251 (GRCm38)	missense	probably benign	0.00
R7739:Grm5	UTSW	7	88,130,058 (GRCm38)	missense	possibly damaging	0.46
R7897:Grm5	UTSW	7	88,130,861 (GRCm38)	missense	probably benign	0.14
R7927:Grm5	UTSW	7	88,036,174 (GRCm38)	missense	probably benign	0.16
R7967:Grm5	UTSW	7	87,975,361 (GRCm38)	missense	probably damaging	0.99
R8260:Grm5	UTSW	7	88,075,132 (GRCm38)	critical splice donor site	probably null
R8345:Grm5	UTSW	7	88,074,538 (GRCm38)	missense	probably damaging	1.00
R8460:Grm5	UTSW	7	87,603,041 (GRCm38)	missense	probably damaging	1.00
R8473:Grm5	UTSW	7	87,603,070 (GRCm38)	missense	probably damaging	0.97
R8531:Grm5	UTSW	7	88,130,516 (GRCm38)	missense	probably benign	0.05
R8671:Grm5	UTSW	7	88,116,290 (GRCm38)	critical splice donor site	probably null
R8805:Grm5	UTSW	7	87,803,968 (GRCm38)	missense	probably damaging	1.00
R9036:Grm5	UTSW	7	88,036,189 (GRCm38)	missense	possibly damaging	0.94
R9106:Grm5	UTSW	7	88,074,539 (GRCm38)	missense	probably damaging	1.00
R9136:Grm5	UTSW	7	88,040,046 (GRCm38)	missense	possibly damaging	0.95
R9189:Grm5	UTSW	7	88,074,816 (GRCm38)	missense	probably damaging	1.00
R9196:Grm5	UTSW	7	88,074,310 (GRCm38)	missense	probably damaging	1.00
R9232:Grm5	UTSW	7	88,074,383 (GRCm38)	missense	probably damaging	1.00
R9234:Grm5	UTSW	7	88,074,232 (GRCm38)	missense	probably damaging	1.00
R9384:Grm5	UTSW	7	88,074,310 (GRCm38)	missense	probably damaging	1.00
R9424:Grm5	UTSW	7	88,116,276 (GRCm38)	missense	probably benign	0.00
R9531:Grm5	UTSW	7	88,130,867 (GRCm38)	makesense	probably null
R9631:Grm5	UTSW	7	87,975,352 (GRCm38)	missense	probably damaging	0.98
R9691:Grm5	UTSW	7	88,074,695 (GRCm38)	missense	probably damaging	1.00
Z1176:Grm5	UTSW	7	87,602,715 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16