Mutagenetix > Incidental Mutation

Incidental Mutation 'R5759:Grm5'

445184

Institutional Source

Beutler Lab

Gene Symbol

Grm5

Ensembl Gene

ENSMUSG00000049583

Gene Name

glutamate receptor, metabotropic 5

Synonyms

mGluR5, 6430542K11Rik, Gprc1e, Glu5R

MMRRC Submission

043361-MU

Accession Numbers

Essential gene?

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

Stock #

R5759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87233376-87784115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87675808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 441 (M441L)

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: M441L

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: M441L

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: M441L

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: M441L

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 damaging
Transcript: ENSMUST00000155358
AA Change: M441L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: M441L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167164
AA Change: M441L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129181
Gene: ENSMUSG00000049583
AA Change: M441L

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: 99.5%
3x: 98.8%
10x: 97.2%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,419 (GRCm39)	S1203P	probably benign	Het
Adamts1	A	G	16: 85,594,936 (GRCm39)	V341A	possibly damaging	Het
Arf2	G	A	11: 103,874,459 (GRCm39)	G144S	probably benign	Het
Atr	A	G	9: 95,756,455 (GRCm39)	N862D	probably benign	Het
Cep295nl	T	C	11: 118,224,472 (GRCm39)	H124R	possibly damaging	Het
Chd6	C	T	2: 160,825,682 (GRCm39)	V1141I	possibly damaging	Het
Chst5	C	A	8: 112,616,842 (GRCm39)	K259N	probably benign	Het
Dchs1	T	A	7: 105,413,383 (GRCm39)	D1144V	probably damaging	Het
Dmxl2	T	C	9: 54,282,792 (GRCm39)	Y2795C	probably damaging	Het
Dnah7b	A	G	1: 46,316,280 (GRCm39)	N3131S	probably damaging	Het
Dnah7c	G	A	1: 46,654,527 (GRCm39)	G1436R	probably damaging	Het
Emp2	T	A	16: 10,102,374 (GRCm39)	Y146F	probably damaging	Het
Exoc6	C	T	19: 37,562,189 (GRCm39)	Q148*	probably null	Het
Fam13b	T	C	18: 34,630,488 (GRCm39)	D90G	probably damaging	Het
Fam186b	T	G	15: 99,177,598 (GRCm39)	Y576S	probably benign	Het
Fras1	T	C	5: 96,857,775 (GRCm39)	V2023A	probably benign	Het
Hhatl	A	G	9: 121,617,343 (GRCm39)	Y297H	probably damaging	Het
Ifi30	A	G	8: 71,219,188 (GRCm39)		probably benign	Het
Ing2	G	T	8: 48,122,040 (GRCm39)	N169K	possibly damaging	Het
Kat6a	T	G	8: 23,428,028 (GRCm39)	S1128A	probably benign	Het
Madd	T	C	2: 90,992,420 (GRCm39)	E1041G	possibly damaging	Het
Mcm3	CT	CTT	1: 20,878,972 (GRCm39)		probably null	Het
Mfsd5	G	A	15: 102,189,513 (GRCm39)	G295D	possibly damaging	Het
Minar1	A	T	9: 89,483,125 (GRCm39)	N757K	probably benign	Het
Mmp20	T	A	9: 7,628,378 (GRCm39)		probably null	Het
Mybphl	T	C	3: 108,282,070 (GRCm39)	V100A	probably benign	Het
Ndfip2	T	A	14: 105,539,750 (GRCm39)		probably null	Het
Or7e170	A	G	9: 19,795,484 (GRCm39)	V39A	probably benign	Het
Or7e175	T	A	9: 20,049,228 (GRCm39)	V272E	probably benign	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Phf19	T	G	2: 34,787,135 (GRCm39)	D443A	probably damaging	Het
Piezo1	A	G	8: 123,234,394 (GRCm39)	V84A	probably damaging	Het
Septin9	A	G	11: 117,243,094 (GRCm39)	I94V	probably benign	Het
Slc35a1	C	A	4: 34,675,032 (GRCm39)	V132L	probably benign	Het
Sntg1	G	A	1: 8,484,494 (GRCm39)	S442L	probably benign	Het
Tcf25	A	G	8: 124,108,196 (GRCm39)	T84A	probably benign	Het
Tchhl1	C	G	3: 93,378,863 (GRCm39)	S522R	probably damaging	Het
Tmem106b	A	G	6: 13,075,041 (GRCm39)	E76G	probably damaging	Het
Tnk2	C	T	16: 32,499,482 (GRCm39)	P932S	probably benign	Het
Trib1	G	A	15: 59,526,350 (GRCm39)	V307I	probably benign	Het
Trib3	A	T	2: 152,185,215 (GRCm39)	D11E	probably benign	Het
Trim34b	T	C	7: 103,980,640 (GRCm39)	S243P	possibly damaging	Het
Vmn2r50	A	G	7: 9,781,905 (GRCm39)	I280T	probably damaging	Het
Zfp1010	A	T	2: 176,956,765 (GRCm39)	C244*	probably null	Het
Zfp445	G	T	9: 122,682,211 (GRCm39)	Q577K	probably benign	Het
Zfp599	T	C	9: 22,160,957 (GRCm39)	K403E	probably damaging	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
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'- CTCTGAGAACGCATCATGTTC -3'
(R):5'- TTTCTTGGCCACAGAGAAATGAG -3'

Sequencing Primer
(F):5'- GAGAACGCATCATGTTCAAGATTCC -3'
(R):5'- AGAGAAATGAGGCCATCCTTATC -3'

Posted On

2016-11-21