Incidental Mutation 'R0032:Grm3'
| ID |
15361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm3
|
| Ensembl Gene |
ENSMUSG00000003974 |
| Gene Name |
glutamate receptor, metabotropic 3 |
| Synonyms |
mGluR3, mGlu3, 0710001G23Rik, Gprc1c |
| MMRRC Submission |
038326-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0032 (G1)
of strain
731
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9535541-9775170 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 9561452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004076]
|
| AlphaFold |
Q9QYS2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004076
|
| SMART Domains |
Protein: ENSMUSP00000004076
Gene: ENSMUSG00000003974
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
67 |
473 |
4.8e-102 |
PFAM |
|
Pfam:NCD3G
|
505 |
555 |
2.4e-14 |
PFAM |
|
Pfam:7tm_3
|
588 |
825 |
4.7e-62 |
PFAM |
|
low complexity region
|
849 |
861 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 80.9%
- 3x: 73.4%
- 10x: 52.4%
- 20x: 32.5%
|
| Validation Efficiency |
94% (87/93) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a knock-out allele exhibit altered neuroprotection. [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 |
|---|
| Acss3 |
T |
A |
10: 106,959,156 (GRCm39) |
T97S |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,094,729 (GRCm39) |
S552P |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,093,652 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
A |
T |
16: 36,441,235 (GRCm39) |
S77R |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,768,559 (GRCm39) |
R188H |
probably benign |
Het |
| Cpne8 |
T |
A |
15: 90,453,771 (GRCm39) |
|
probably benign |
Het |
| Ctsg |
T |
A |
14: 56,339,196 (GRCm39) |
I21F |
probably damaging |
Het |
| Cyp2j9 |
T |
G |
4: 96,457,043 (GRCm39) |
N476T |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,746,387 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,671,057 (GRCm39) |
L995* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,877,955 (GRCm39) |
K2623R |
possibly damaging |
Het |
| Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
| Dnmbp |
A |
C |
19: 43,891,158 (GRCm39) |
L203R |
probably damaging |
Het |
| Eif4g1 |
C |
T |
16: 20,504,648 (GRCm39) |
S829F |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,115 (GRCm39) |
I153V |
probably benign |
Het |
| Erf |
T |
C |
7: 24,944,500 (GRCm39) |
Y277C |
possibly damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,735 (GRCm39) |
T341M |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,555,742 (GRCm39) |
|
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,768,187 (GRCm39) |
E366G |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,712,209 (GRCm39) |
C261R |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,681,377 (GRCm39) |
F998L |
probably benign |
Het |
| Krt74 |
T |
A |
15: 101,669,887 (GRCm39) |
|
noncoding transcript |
Het |
| Me2 |
T |
G |
18: 73,927,596 (GRCm39) |
M219L |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,523 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,015,321 (GRCm39) |
V842E |
probably benign |
Het |
| Oma1 |
T |
A |
4: 103,223,209 (GRCm39) |
S465T |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,433,887 (GRCm39) |
H574L |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,542,179 (GRCm39) |
N804S |
possibly damaging |
Het |
| Pde4a |
C |
A |
9: 21,112,728 (GRCm39) |
|
probably benign |
Het |
| Pilra |
T |
A |
5: 137,829,527 (GRCm39) |
D179V |
probably damaging |
Het |
| Piwil1 |
G |
A |
5: 128,820,344 (GRCm39) |
S247N |
probably benign |
Het |
| Prss58 |
T |
G |
6: 40,872,633 (GRCm39) |
T158P |
probably benign |
Het |
| Slc35e3 |
T |
C |
10: 117,580,837 (GRCm39) |
M156V |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,414,198 (GRCm39) |
R938Q |
probably damaging |
Het |
| Syt8 |
T |
C |
7: 141,992,926 (GRCm39) |
V152A |
probably benign |
Het |
| Tppp2 |
G |
T |
14: 52,156,866 (GRCm39) |
R81L |
possibly damaging |
Het |
| Trpc3 |
A |
G |
3: 36,698,405 (GRCm39) |
I618T |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,168,565 (GRCm39) |
D891E |
unknown |
Het |
| Zfp120 |
A |
T |
2: 149,959,512 (GRCm39) |
V270E |
possibly damaging |
Het |
|
| Other mutations in Grm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Grm3
|
APN |
5 |
9,562,290 (GRCm39) |
missense |
probably benign |
|
|
IGL01393:Grm3
|
APN |
5 |
9,639,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01398:Grm3
|
APN |
5 |
9,535,762 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01825:Grm3
|
APN |
5 |
9,561,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Grm3
|
APN |
5 |
9,561,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02367:Grm3
|
APN |
5 |
9,561,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02526:Grm3
|
APN |
5 |
9,639,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02972:Grm3
|
APN |
5 |
9,562,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03356:Grm3
|
APN |
5 |
9,562,206 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
BB002:Grm3
|
UTSW |
5 |
9,639,880 (GRCm39) |
missense |
probably benign |
0.09 |
|
BB012:Grm3
|
UTSW |
5 |
9,639,880 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0032:Grm3
|
UTSW |
5 |
9,561,452 (GRCm39) |
splice site |
probably null |
|
|
R0389:Grm3
|
UTSW |
5 |
9,554,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Grm3
|
UTSW |
5 |
9,562,477 (GRCm39) |
missense |
probably benign |
|
|
R0538:Grm3
|
UTSW |
5 |
9,562,446 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0553:Grm3
|
UTSW |
5 |
9,620,048 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1124:Grm3
|
UTSW |
5 |
9,620,297 (GRCm39) |
missense |
probably benign |
|
|
R1163:Grm3
|
UTSW |
5 |
9,620,738 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1440:Grm3
|
UTSW |
5 |
9,639,958 (GRCm39) |
missense |
probably benign |
|
|
R1635:Grm3
|
UTSW |
5 |
9,561,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1734:Grm3
|
UTSW |
5 |
9,639,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1895:Grm3
|
UTSW |
5 |
9,562,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Grm3
|
UTSW |
5 |
9,554,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1940:Grm3
|
UTSW |
5 |
9,561,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Grm3
|
UTSW |
5 |
9,562,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Grm3
|
UTSW |
5 |
9,639,793 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2005:Grm3
|
UTSW |
5 |
9,639,793 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2006:Grm3
|
UTSW |
5 |
9,639,793 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R3116:Grm3
|
UTSW |
5 |
9,620,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4083:Grm3
|
UTSW |
5 |
9,562,054 (GRCm39) |
missense |
probably benign |
|
|
R4537:Grm3
|
UTSW |
5 |
9,562,083 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4855:Grm3
|
UTSW |
5 |
9,620,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5060:Grm3
|
UTSW |
5 |
9,620,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5093:Grm3
|
UTSW |
5 |
9,639,766 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5419:Grm3
|
UTSW |
5 |
9,620,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Grm3
|
UTSW |
5 |
9,554,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Grm3
|
UTSW |
5 |
9,620,536 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5804:Grm3
|
UTSW |
5 |
9,620,155 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5915:Grm3
|
UTSW |
5 |
9,561,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Grm3
|
UTSW |
5 |
9,561,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6151:Grm3
|
UTSW |
5 |
9,561,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Grm3
|
UTSW |
5 |
9,620,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Grm3
|
UTSW |
5 |
9,639,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7555:Grm3
|
UTSW |
5 |
9,620,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7657:Grm3
|
UTSW |
5 |
9,561,452 (GRCm39) |
splice site |
probably null |
|
|
R7925:Grm3
|
UTSW |
5 |
9,639,880 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8032:Grm3
|
UTSW |
5 |
9,562,272 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8227:Grm3
|
UTSW |
5 |
9,620,242 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8462:Grm3
|
UTSW |
5 |
9,562,365 (GRCm39) |
missense |
probably benign |
|
|
R8500:Grm3
|
UTSW |
5 |
9,561,726 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8696:Grm3
|
UTSW |
5 |
9,562,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Grm3
|
UTSW |
5 |
9,561,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Grm3
|
UTSW |
5 |
9,554,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8876:Grm3
|
UTSW |
5 |
9,561,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Grm3
|
UTSW |
5 |
9,562,483 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9035:Grm3
|
UTSW |
5 |
9,620,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9779:Grm3
|
UTSW |
5 |
9,561,656 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
X0020:Grm3
|
UTSW |
5 |
9,562,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Grm3
|
UTSW |
5 |
9,535,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Grm3
|
UTSW |
5 |
9,562,238 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Grm3
|
UTSW |
5 |
9,620,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2012-12-17 |
Incidental Mutation