Mutagenetix > Incidental Mutation

Incidental Mutation 'R7967:Grm5'

650420

Institutional Source

Beutler Lab

Gene Symbol

Grm5

Ensembl Gene

ENSMUSG00000049583

Gene Name

glutamate receptor, metabotropic 5

Synonyms

mGluR5, 6430542K11Rik, Gprc1e, Glu5R

MMRRC Submission

046010-MU

Accession Numbers

Essential gene?

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

Stock #

R7967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87233376-87784115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87624569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 379 (T379A)

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: T379A

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

SMART Domains

Protein: ENSMUSP00000102884
Gene: ENSMUSG00000049583
AA Change: T379A

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: T379A

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

SMART Domains

Protein: ENSMUSP00000118393
Gene: ENSMUSG00000049583
AA Change: T379A

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: T379A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114927
Gene: ENSMUSG00000049583
AA Change: T379A

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

0.0824

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (39/39)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,932,169 (GRCm39)	H228R	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Atp11b	C	A	3: 35,895,192 (GRCm39)	T910K	probably benign	Het
Babam1	T	A	8: 71,856,999 (GRCm39)	L320Q	probably damaging	Het
C530025M09Rik	G	A	2: 149,672,974 (GRCm39)	R54C	unknown	Het
Cfap251	G	A	5: 123,421,579 (GRCm39)	R644H	possibly damaging	Het
Cilp	A	T	9: 65,185,494 (GRCm39)	I530F	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dgkh	A	G	14: 78,857,256 (GRCm39)	V302A	probably benign	Het
Eps8l3	A	G	3: 107,798,604 (GRCm39)	K497E	possibly damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Exosc10	A	G	4: 148,649,121 (GRCm39)	D337G	probably damaging	Het
Fabp3	A	T	4: 130,207,781 (GRCm39)	H94L	probably damaging	Het
Flrt3	T	A	2: 140,501,811 (GRCm39)	K606*	probably null	Het
Hecw1	T	A	13: 14,552,332 (GRCm39)	Y89F	probably damaging	Het
Hoxd8	T	C	2: 74,536,378 (GRCm39)	S163P	probably damaging	Het
Itih4	T	A	14: 30,614,370 (GRCm39)	I440N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,461 (GRCm39)	D2236G	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Klhl31	G	A	9: 77,557,430 (GRCm39)	E49K	probably damaging	Het
Mmp10	A	G	9: 7,504,116 (GRCm39)	Y185C	probably damaging	Het
Mtus2	A	T	5: 148,014,656 (GRCm39)	E483V	probably benign	Het
Myh7b	A	G	2: 155,456,119 (GRCm39)		probably null	Het
Or12e13	C	T	2: 87,663,863 (GRCm39)	P160L	possibly damaging	Het
Orc3	A	T	4: 34,598,645 (GRCm39)	M187K	probably damaging	Het
Pcdhb15	A	G	18: 37,607,902 (GRCm39)	N378S	probably damaging	Het
Pgm2l1	A	C	7: 99,910,854 (GRCm39)	H266P	probably damaging	Het
Pld5	A	T	1: 176,102,264 (GRCm39)	D59E	probably benign	Het
Ppp2r2c	A	G	5: 37,097,450 (GRCm39)	D212G	possibly damaging	Het
Prorp	G	A	12: 55,350,979 (GRCm39)	G96D	probably benign	Het
Rccd1	G	A	7: 79,968,657 (GRCm39)	S301L	possibly damaging	Het
Shbg	T	A	11: 69,505,813 (GRCm39)	D398V	probably benign	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tecta	G	A	9: 42,289,251 (GRCm39)	T438M	possibly damaging	Het
Trpm6	A	T	19: 18,756,023 (GRCm39)	I89F	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Ugt2b36	C	A	5: 87,214,236 (GRCm39)	M469I	probably damaging	Het
Zfp599	A	G	9: 22,160,830 (GRCm39)	V445A	possibly damaging	Het
Zmym6	T	C	4: 127,016,453 (GRCm39)	C745R	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
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
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'- GTTTCCACAGTGATGGCTGG -3'
(R):5'- GGCCAGTGAGAATAAAACCTGC -3'

Sequencing Primer
(F):5'- CTGGGCTGACAGGTATGAC -3'
(R):5'- GCCAGTGAGAATAAAACCTGCTTATC -3'

Posted On

2020-09-15