Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02851:Grm5'

361882

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grm5

Ensembl Gene

ENSMUSG00000049583

Gene Name

glutamate receptor, metabotropic 5

Synonyms

mGluR5, 6430542K11Rik, Gprc1e, Glu5R

Accession Numbers

Essential gene?

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

Stock #

IGL02851

Quality Score

Status

Chromosome

Chromosomal Location

87233376-87784115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87723918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 736 (N736S)

Ref Sequence

ENSEMBL: ENSMUSP00000118393 (fasta)

Gene Model

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

AlphaFold

Q3UVX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000107263
AA Change: N736S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: N736S

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: N736S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: N736S

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: N736S

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: N736S

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
Akt1	T	C	12: 112,623,518 (GRCm39)	E314G	probably damaging	Het
Amtn	C	A	5: 88,529,481 (GRCm39)	Q106K	probably benign	Het
Birc6	T	C	17: 74,916,184 (GRCm39)	F1700S	probably damaging	Het
Brdt	T	C	5: 107,525,861 (GRCm39)	S905P	possibly damaging	Het
Ccdc68	C	T	18: 70,080,236 (GRCm39)	Q194*	probably null	Het
Cdc27	A	G	11: 104,417,807 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 119,401,897 (GRCm39)	T100A	probably benign	Het
Cdsn	A	G	17: 35,866,791 (GRCm39)	H440R	possibly damaging	Het
Cenpf	C	A	1: 189,390,227 (GRCm39)	D1202Y	probably damaging	Het
Chat	C	A	14: 32,180,570 (GRCm39)	V21L	probably benign	Het
Clca4c-ps	T	A	3: 144,585,493 (GRCm39)		noncoding transcript	Het
Cst9	A	G	2: 148,677,203 (GRCm39)	I25V	probably benign	Het
Dennd1b	C	A	1: 139,096,705 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,928,570 (GRCm39)		probably benign	Het
Dpp3	T	G	19: 4,973,159 (GRCm39)	Q145P	probably benign	Het
Elovl5	C	T	9: 77,888,784 (GRCm39)	T217M	probably damaging	Het
Etl4	T	C	2: 20,812,840 (GRCm39)	V906A	possibly damaging	Het
Gm10647	C	T	9: 66,705,543 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,814,423 (GRCm39)	S1638P	possibly damaging	Het
Hsd3b2	T	G	3: 98,623,740 (GRCm39)	E46A	possibly damaging	Het
Igkv15-103	A	G	6: 68,414,674 (GRCm39)	T38A	probably benign	Het
Itpr2	C	A	6: 146,287,477 (GRCm39)	V450L	probably damaging	Het
Kbtbd12	T	C	6: 88,595,311 (GRCm39)	H173R	probably benign	Het
Man1a	G	A	10: 53,795,340 (GRCm39)	R638W	probably damaging	Het
Mterf2	A	T	10: 84,955,878 (GRCm39)	S249T	probably damaging	Het
Muc6	T	C	7: 141,234,627 (GRCm39)	D700G	probably damaging	Het
Myh13	A	G	11: 67,239,742 (GRCm39)	H764R	possibly damaging	Het
Myh7b	A	G	2: 155,470,747 (GRCm39)	D1065G	probably damaging	Het
Naip1	C	A	13: 100,569,770 (GRCm39)	W288L	probably damaging	Het
Naip6	C	A	13: 100,437,168 (GRCm39)	A452S	probably benign	Het
Nop2	A	C	6: 125,121,048 (GRCm39)	K610T	possibly damaging	Het
Nop2	G	T	6: 125,121,033 (GRCm39)	G605V	probably benign	Het
Npvf	G	A	6: 50,629,670 (GRCm39)	R107W	probably benign	Het
Or10h28	T	A	17: 33,488,328 (GRCm39)	I210K	probably benign	Het
Or2h2	T	C	17: 37,397,048 (GRCm39)		probably null	Het
Os9	G	A	10: 126,935,262 (GRCm39)		probably benign	Het
Parp4	T	C	14: 56,886,326 (GRCm39)	S1802P	unknown	Het
Piezo2	G	A	18: 63,153,704 (GRCm39)	S2547F	probably benign	Het
Plekha7	G	T	7: 115,734,413 (GRCm39)	A1024E	probably damaging	Het
R3hdm1	T	C	1: 128,102,677 (GRCm39)		probably benign	Het
Robo4	T	C	9: 37,324,678 (GRCm39)	S1022P	probably damaging	Het
Sc5d	T	C	9: 42,166,690 (GRCm39)	N283S	probably benign	Het
Scn10a	C	T	9: 119,500,674 (GRCm39)	V202M	probably damaging	Het
Slco1a8	C	T	6: 141,949,197 (GRCm39)	G60R	probably damaging	Het
Spag16	T	C	1: 70,304,067 (GRCm39)	I366T	possibly damaging	Het
Sptbn4	G	A	7: 27,126,258 (GRCm39)	R222C	possibly damaging	Het
Tlr9	C	T	9: 106,101,929 (GRCm39)	Q407*	probably null	Het
Trappc12	G	A	12: 28,741,405 (GRCm39)	S768L	probably damaging	Het
Vmn2r44	A	T	7: 8,386,050 (GRCm39)	L63Q	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	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
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
R7521:Grm5	UTSW	7	87,723,480 (GRCm39)	missense	possibly damaging	0.86
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

Posted On

2015-12-18