Mutagenetix > Incidental Mutation

Incidental Mutation 'R4451:Grm5'

328967

Institutional Source

Beutler Lab

Gene Symbol

Grm5

Ensembl Gene

ENSMUSG00000049583

Gene Name

glutamate receptor, metabotropic 5

Synonyms

mGluR5, 6430542K11Rik, Gprc1e, Glu5R

MMRRC Submission

041712-MU

Accession Numbers

Essential gene?

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

Stock #

R4451 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87233376-87784115 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 87724340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114927 (fasta)

Gene Model

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

AlphaFold

Q3UVX5

Predicted Effect

probably null
Transcript: ENSMUST00000107263

SMART Domains

Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583

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 null
Transcript: ENSMUST00000107263

SMART Domains

Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583

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 null
Transcript: ENSMUST00000125009

SMART Domains

Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583

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 null
Transcript: ENSMUST00000125009

SMART Domains

Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583

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 null
Transcript: ENSMUST00000155358

SMART Domains

Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583

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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (43/43)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	C	5: 62,906,513 (GRCm39)	F169V	probably benign	Het
Baiap2l1	T	A	5: 144,215,362 (GRCm39)	Y381F	probably damaging	Het
Cdc27	A	T	11: 104,408,221 (GRCm39)	M563K	probably benign	Het
Cela3b	G	A	4: 137,148,355 (GRCm39)		probably benign	Het
Cyp2c29	A	T	19: 39,279,270 (GRCm39)	D50V	probably damaging	Het
Dbpht2	A	T	12: 74,345,806 (GRCm39)		noncoding transcript	Het
Dnah9	T	A	11: 65,772,467 (GRCm39)	Q3755L	probably benign	Het
Dnajc2	T	C	5: 21,962,792 (GRCm39)	T588A	possibly damaging	Het
Dync2h1	T	A	9: 6,983,477 (GRCm39)	R4022S	probably benign	Het
Gm20481	T	G	17: 35,191,109 (GRCm39)		probably benign	Het
Gm7347	A	G	5: 26,260,004 (GRCm39)	I182T	possibly damaging	Het
Gns	G	A	10: 121,212,601 (GRCm39)	G188S	probably damaging	Het
Gstm4	T	C	3: 107,951,291 (GRCm39)		probably null	Het
Il7r	T	A	15: 9,513,034 (GRCm39)	K158N	probably benign	Het
Irs1	T	C	1: 82,266,749 (GRCm39)	Y489C	probably benign	Het
Kcns1	C	T	2: 164,010,598 (GRCm39)	E54K	possibly damaging	Het
Klra5	T	A	6: 129,885,797 (GRCm39)	R31*	probably null	Het
Krt13	T	C	11: 100,008,827 (GRCm39)	T409A	unknown	Het
Lce1e	C	T	3: 92,614,967 (GRCm39)	G127S	unknown	Het
Mfsd14a	T	C	3: 116,456,127 (GRCm39)	M1V	probably null	Het
Micall2	T	C	5: 139,692,852 (GRCm39)	E891G	probably damaging	Het
Mpeg1	A	T	19: 12,440,596 (GRCm39)	K685*	probably null	Het
Nbea	A	G	3: 55,899,753 (GRCm39)		probably null	Het
Nup155	A	G	15: 8,180,366 (GRCm39)	M1148V	probably benign	Het
Or51aa5	A	G	7: 103,167,184 (GRCm39)	S136P	probably damaging	Het
Or5m3b	T	C	2: 85,872,303 (GRCm39)	S215P	probably damaging	Het
Otof	T	A	5: 30,542,508 (GRCm39)	D695V	possibly damaging	Het
Ptf1a	G	T	2: 19,451,092 (GRCm39)	A141S	possibly damaging	Het
Pxmp2	A	T	5: 110,425,531 (GRCm39)	V168E	probably damaging	Het
Rab11fip1	T	C	8: 27,644,505 (GRCm39)	K427E	probably damaging	Het
Susd2	A	G	10: 75,475,232 (GRCm39)	V526A	probably damaging	Het
Tbx2	T	C	11: 85,731,643 (GRCm39)	S647P	probably damaging	Het
Tg	A	G	15: 66,637,996 (GRCm39)	T651A	probably benign	Het
Trim68	T	A	7: 102,333,680 (GRCm39)	M1L	probably damaging	Het
Ttn	A	C	2: 76,584,250 (GRCm39)	L20540*	probably null	Het
Usf3	A	T	16: 44,038,251 (GRCm39)	K910N	possibly damaging	Het
Vmn1r14	T	G	6: 57,211,213 (GRCm39)	Y220D	possibly damaging	Het
Vmn1r209	T	A	13: 22,990,668 (GRCm39)	K7N	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTTTCTCAGTCAGCCTCAG -3'
(R):5'- AACTGGGCAACACTCGTTC -3'

Sequencing Primer
(F):5'- AGTCAGCCTCAGTGCCACAG -3'
(R):5'- CGTTCCACCTTAAAAATAAACATTGC -3'

Posted On

2015-07-21