Mutagenetix > Incidental Mutation

Incidental Mutation 'R7521:Grm5'

582664

Institutional Source

Beutler Lab

Gene Symbol

Grm5

Ensembl Gene

ENSMUSG00000049583

Gene Name

glutamate receptor, metabotropic 5

Synonyms

mGluR5, 6430542K11Rik, Gprc1e, Glu5R

MMRRC Submission

045593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R7521 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87233376-87784115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87723480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 590 (L590Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114927 (fasta)

Gene Model

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

AlphaFold

Q3UVX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000107263
AA Change: L590Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: L590Q

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 damaging
Transcript: ENSMUST00000125009
AA Change: L590Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: L590Q

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

possibly damaging
Transcript: ENSMUST00000155358
AA Change: L590Q

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: L590Q

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	A	G	17: 31,283,543 (GRCm39)	N76S	probably benign	Het
Ahnak	T	C	19: 8,979,715 (GRCm39)	V333A	possibly damaging	Het
Arid1b	GGCGGC	GGCGGCAGCGGC	17: 5,046,135 (GRCm39)		probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	A	G	17: 5,392,865 (GRCm39)	T2079A	probably benign	Het
Clca3a2	A	G	3: 144,507,674 (GRCm39)	*190R	probably null	Het
Cntnap3	G	T	13: 64,919,815 (GRCm39)	Q681K	probably benign	Het
Coro7	T	C	16: 4,449,346 (GRCm39)	D689G	probably benign	Het
Dnah9	A	T	11: 65,880,663 (GRCm39)	S2645T	probably damaging	Het
Dnm3	A	T	1: 161,962,113 (GRCm39)	L32H	probably damaging	Het
Dtx4	T	C	19: 12,469,861 (GRCm39)	K89E	probably benign	Het
Exph5	T	A	9: 53,285,377 (GRCm39)	N819K	possibly damaging	Het
Fpgt	A	G	3: 154,792,765 (GRCm39)	S421P	possibly damaging	Het
Gbp5	T	C	3: 142,206,382 (GRCm39)	V22A	probably benign	Het
Gpatch1	C	T	7: 34,993,213 (GRCm39)	R544Q	probably damaging	Het
Hc	T	C	2: 34,935,344 (GRCm39)	D172G	possibly damaging	Het
Ifi209	A	T	1: 173,470,261 (GRCm39)	N283I	probably damaging	Het
Igsf11	C	T	16: 38,829,274 (GRCm39)	T115M	probably damaging	Het
Il17rd	T	A	14: 26,816,823 (GRCm39)	M320K	probably benign	Het
Kdm5a	T	A	6: 120,409,148 (GRCm39)	C1610*	probably null	Het
Mast3	T	A	8: 71,241,412 (GRCm39)	I175L	probably benign	Het
Mif	A	T	10: 75,695,942 (GRCm39)	S21T	possibly damaging	Het
Mindy2	T	C	9: 70,514,792 (GRCm39)	Q542R	probably benign	Het
Nalcn	T	A	14: 123,530,870 (GRCm39)	E1389D	probably damaging	Het
Or55b3	C	T	7: 102,126,402 (GRCm39)	R225H	possibly damaging	Het
Or5k8	T	C	16: 58,644,257 (GRCm39)	I272V	probably benign	Het
Or5t16	T	A	2: 86,818,954 (GRCm39)	T189S	probably damaging	Het
Or7e177	T	C	9: 20,212,036 (GRCm39)	I181T	probably benign	Het
Pcsk5	T	A	19: 17,432,196 (GRCm39)	D1473V	probably benign	Het
Phax	C	T	18: 56,708,990 (GRCm39)	Q185*	probably null	Het
Ppp2r2b	T	A	18: 43,192,242 (GRCm39)	S22C	probably benign	Het
Prss40	A	G	1: 34,597,090 (GRCm39)	F153L	probably benign	Het
Slc22a2	T	C	17: 12,805,710 (GRCm39)	S154P	probably benign	Het
Speer4a1	G	A	5: 26,241,763 (GRCm39)	T121I	probably damaging	Het
Tacc1	A	G	8: 25,665,268 (GRCm39)	V488A	possibly damaging	Het
Tdrp	G	A	8: 14,003,831 (GRCm39)	Q169*	probably null	Het
Tmem30b	C	T	12: 73,592,092 (GRCm39)	R341H	probably benign	Het

Other mutations in Grm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Grm5	APN	7	87,779,989 (GRCm39)	missense	probably benign	0.00
IGL00970:Grm5	APN	7	87,453,104 (GRCm39)	missense	probably damaging	0.97
IGL01286:Grm5	APN	7	87,251,773 (GRCm39)	missense	probably benign	0.00
IGL01307:Grm5	APN	7	87,724,220 (GRCm39)	missense	probably damaging	1.00
IGL01603:Grm5	APN	7	87,252,386 (GRCm39)	missense	probably damaging	1.00
IGL01646:Grm5	APN	7	87,689,267 (GRCm39)	missense	probably damaging	1.00
IGL01705:Grm5	APN	7	87,779,254 (GRCm39)	missense	possibly damaging	0.59
IGL02184:Grm5	APN	7	87,675,650 (GRCm39)	missense	probably damaging	0.98
IGL02504:Grm5	APN	7	87,779,980 (GRCm39)	missense	probably benign
IGL02689:Grm5	APN	7	87,251,918 (GRCm39)	missense	probably damaging	1.00
IGL02725:Grm5	APN	7	87,723,873 (GRCm39)	missense	probably damaging	1.00
IGL02851:Grm5	APN	7	87,723,918 (GRCm39)	missense	probably damaging	0.98
IGL03106:Grm5	APN	7	87,685,278 (GRCm39)	missense	probably damaging	1.00
IGL03257:Grm5	APN	7	87,252,106 (GRCm39)	missense	possibly damaging	0.69
IGL03291:Grm5	APN	7	87,780,004 (GRCm39)	missense	probably damaging	1.00
BB004:Grm5	UTSW	7	87,685,382 (GRCm39)	missense	probably benign	0.16
BB014:Grm5	UTSW	7	87,685,382 (GRCm39)	missense	probably benign	0.16
R0078:Grm5	UTSW	7	87,724,185 (GRCm39)	missense	probably damaging	1.00
R0314:Grm5	UTSW	7	87,252,163 (GRCm39)	missense	probably damaging	0.97
R0318:Grm5	UTSW	7	87,252,175 (GRCm39)	missense	probably damaging	0.99
R0364:Grm5	UTSW	7	87,723,594 (GRCm39)	missense	probably damaging	1.00
R0380:Grm5	UTSW	7	87,723,584 (GRCm39)	missense	possibly damaging	0.92
R0454:Grm5	UTSW	7	87,779,997 (GRCm39)	missense	probably damaging	1.00
R0494:Grm5	UTSW	7	87,779,989 (GRCm39)	missense	probably benign	0.00
R0562:Grm5	UTSW	7	87,252,227 (GRCm39)	missense	probably damaging	1.00
R1695:Grm5	UTSW	7	87,685,311 (GRCm39)	missense	possibly damaging	0.47
R2012:Grm5	UTSW	7	87,724,080 (GRCm39)	missense	probably damaging	1.00
R2384:Grm5	UTSW	7	87,251,936 (GRCm39)	missense	probably damaging	1.00
R2510:Grm5	UTSW	7	87,685,299 (GRCm39)	missense	probably benign	0.21
R2870:Grm5	UTSW	7	87,251,930 (GRCm39)	missense	possibly damaging	0.85
R2870:Grm5	UTSW	7	87,251,930 (GRCm39)	missense	possibly damaging	0.85
R3861:Grm5	UTSW	7	87,779,202 (GRCm39)	missense	possibly damaging	0.94
R4451:Grm5	UTSW	7	87,724,340 (GRCm39)	critical splice donor site	probably null
R4626:Grm5	UTSW	7	87,779,361 (GRCm39)	missense	probably damaging	1.00
R4728:Grm5	UTSW	7	87,624,496 (GRCm39)	missense	probably damaging	1.00
R4914:Grm5	UTSW	7	87,779,337 (GRCm39)	missense	probably benign	0.00
R5122:Grm5	UTSW	7	87,724,028 (GRCm39)	missense	probably damaging	1.00
R5352:Grm5	UTSW	7	87,724,058 (GRCm39)	missense	probably damaging	1.00
R5361:Grm5	UTSW	7	87,723,704 (GRCm39)	missense	probably damaging	1.00
R5684:Grm5	UTSW	7	87,779,853 (GRCm39)	missense	probably benign
R5715:Grm5	UTSW	7	87,779,464 (GRCm39)	missense	probably benign	0.05
R5759:Grm5	UTSW	7	87,675,808 (GRCm39)	missense	probably damaging	0.96
R5844:Grm5	UTSW	7	87,453,232 (GRCm39)	missense	possibly damaging	0.88
R5889:Grm5	UTSW	7	87,252,281 (GRCm39)	missense	probably damaging	1.00
R6048:Grm5	UTSW	7	87,675,758 (GRCm39)	missense	probably damaging	1.00
R6145:Grm5	UTSW	7	87,675,809 (GRCm39)	missense	probably damaging	1.00
R6232:Grm5	UTSW	7	87,251,638 (GRCm39)	unclassified	probably benign
R6972:Grm5	UTSW	7	87,252,131 (GRCm39)	missense	probably benign	0.02
R7072:Grm5	UTSW	7	87,723,512 (GRCm39)	missense	probably damaging	1.00
R7258:Grm5	UTSW	7	87,723,914 (GRCm39)	missense	probably damaging	0.96
R7316:Grm5	UTSW	7	87,624,473 (GRCm39)	missense	probably benign
R7434:Grm5	UTSW	7	87,779,682 (GRCm39)	missense	probably benign	0.10
R7616:Grm5	UTSW	7	87,765,409 (GRCm39)	missense	probably benign
R7631:Grm5	UTSW	7	87,624,513 (GRCm39)	missense	probably damaging	1.00
R7655:Grm5	UTSW	7	87,779,459 (GRCm39)	missense	probably benign	0.00
R7656:Grm5	UTSW	7	87,779,459 (GRCm39)	missense	probably benign	0.00
R7739:Grm5	UTSW	7	87,779,266 (GRCm39)	missense	possibly damaging	0.46
R7897:Grm5	UTSW	7	87,780,069 (GRCm39)	missense	probably benign	0.14
R7927:Grm5	UTSW	7	87,685,382 (GRCm39)	missense	probably benign	0.16
R7967:Grm5	UTSW	7	87,624,569 (GRCm39)	missense	probably damaging	0.99
R8260:Grm5	UTSW	7	87,724,340 (GRCm39)	critical splice donor site	probably null
R8345:Grm5	UTSW	7	87,723,746 (GRCm39)	missense	probably damaging	1.00
R8460:Grm5	UTSW	7	87,252,249 (GRCm39)	missense	probably damaging	1.00
R8473:Grm5	UTSW	7	87,252,278 (GRCm39)	missense	probably damaging	0.97
R8531:Grm5	UTSW	7	87,779,724 (GRCm39)	missense	probably benign	0.05
R8671:Grm5	UTSW	7	87,765,498 (GRCm39)	critical splice donor site	probably null
R8805:Grm5	UTSW	7	87,453,176 (GRCm39)	missense	probably damaging	1.00
R9036:Grm5	UTSW	7	87,685,397 (GRCm39)	missense	possibly damaging	0.94
R9106:Grm5	UTSW	7	87,723,747 (GRCm39)	missense	probably damaging	1.00
R9136:Grm5	UTSW	7	87,689,254 (GRCm39)	missense	possibly damaging	0.95
R9189:Grm5	UTSW	7	87,724,024 (GRCm39)	missense	probably damaging	1.00
R9196:Grm5	UTSW	7	87,723,518 (GRCm39)	missense	probably damaging	1.00
R9232:Grm5	UTSW	7	87,723,591 (GRCm39)	missense	probably damaging	1.00
R9234:Grm5	UTSW	7	87,723,440 (GRCm39)	missense	probably damaging	1.00
R9384:Grm5	UTSW	7	87,723,518 (GRCm39)	missense	probably damaging	1.00
R9424:Grm5	UTSW	7	87,765,484 (GRCm39)	missense	probably benign	0.00
R9531:Grm5	UTSW	7	87,780,075 (GRCm39)	makesense	probably null
R9631:Grm5	UTSW	7	87,624,560 (GRCm39)	missense	probably damaging	0.98
R9691:Grm5	UTSW	7	87,723,903 (GRCm39)	missense	probably damaging	1.00
Z1176:Grm5	UTSW	7	87,251,923 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGCTCCTATCAAACAGC -3'
(R):5'- GATGCCAATTCTCTGAAGGTAGC -3'

Sequencing Primer
(F):5'- GCTCCTATCAAACAGCATACACATG -3'
(R):5'- TCTCTGAAGGTAGCAGTAAATCTG -3'

Posted On

2019-10-17