Incidental Mutation 'R1116:Grm2'
| ID |
97301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grm2
|
| Ensembl Gene |
ENSMUSG00000023192 |
| Gene Name |
glutamate receptor, metabotropic 2 |
| Synonyms |
mGluR2, Gprc1b, 4930441L02Rik |
| MMRRC Submission |
039189-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.466)
|
| Stock # |
R1116 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106521733-106533308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106525126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 530
(Y530H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023959]
[ENSMUST00000201681]
|
| AlphaFold |
Q14BI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023959
AA Change: Y530H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023959
Gene: ENSMUSG00000023192
AA Change: Y530H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
60 |
460 |
1.3e-96 |
PFAM |
|
Pfam:NCD3G
|
496 |
546 |
3.7e-13 |
PFAM |
|
Pfam:7tm_3
|
579 |
816 |
4.3e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187786
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200826
AA Change: Y59H
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201681
|
| SMART Domains |
Protein: ENSMUSP00000144631
Gene: ENSMUSG00000023192
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
60 |
460 |
4.1e-95 |
PFAM |
|
Pfam:7tm_3
|
458 |
538 |
4.6e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201955
|
| Meta Mutation Damage Score |
0.3586 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.8%
|
| Validation Efficiency |
100% (49/49) |
| 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for disruptions in this gene display subtile behavioral modifications and moderate abnormalities in long term depression and EPSP in the hippocampus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
C |
16: 56,506,792 (GRCm39) |
|
probably benign |
Het |
| Acacb |
C |
T |
5: 114,349,017 (GRCm39) |
P1028S |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,768,814 (GRCm39) |
F717S |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,314,172 (GRCm39) |
Y705N |
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,501 (GRCm39) |
I6V |
probably benign |
Het |
| Agps |
T |
G |
2: 75,692,269 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,749,689 (GRCm39) |
Q501* |
probably null |
Het |
| Cacna2d3 |
A |
G |
14: 28,786,278 (GRCm39) |
|
probably benign |
Het |
| Ccnt1 |
G |
A |
15: 98,442,219 (GRCm39) |
R350W |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,518,453 (GRCm39) |
E564K |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,717,554 (GRCm39) |
E1250G |
probably damaging |
Het |
| Cryz |
A |
C |
3: 154,327,240 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,029,824 (GRCm39) |
V494F |
probably benign |
Het |
| Dpep3 |
G |
T |
8: 106,705,461 (GRCm39) |
D96E |
probably damaging |
Het |
| Dyrk3 |
G |
A |
1: 131,056,919 (GRCm39) |
A418V |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,354 (GRCm39) |
N231I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,819,086 (GRCm39) |
|
probably null |
Het |
| Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam178b |
A |
T |
1: 36,617,669 (GRCm39) |
C82* |
probably null |
Het |
| Gm1647 |
C |
T |
3: 69,064,205 (GRCm39) |
Q31* |
probably null |
Het |
| Got1 |
T |
A |
19: 43,491,413 (GRCm39) |
K346* |
probably null |
Het |
| Grid2ip |
G |
A |
5: 143,368,669 (GRCm39) |
G656D |
possibly damaging |
Het |
| Hyou1 |
T |
C |
9: 44,295,978 (GRCm39) |
I381T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Marchf11 |
T |
C |
15: 26,409,381 (GRCm39) |
L360P |
probably damaging |
Het |
| Mettl17 |
T |
C |
14: 52,127,055 (GRCm39) |
V281A |
probably benign |
Het |
| Micu2 |
A |
T |
14: 58,191,657 (GRCm39) |
D131E |
probably benign |
Het |
| Mug1 |
G |
C |
6: 121,847,604 (GRCm39) |
V661L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,951,145 (GRCm39) |
D1488E |
probably damaging |
Het |
| Nkg7 |
G |
A |
7: 43,086,878 (GRCm39) |
V51I |
probably benign |
Het |
| Nlgn1 |
A |
C |
3: 25,488,038 (GRCm39) |
S766A |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,234 (GRCm39) |
M163L |
probably benign |
Het |
| Otog |
T |
C |
7: 45,950,025 (GRCm39) |
|
probably benign |
Het |
| Pax2 |
T |
C |
19: 44,745,863 (GRCm39) |
S11P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,782,823 (GRCm39) |
D392G |
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,943,966 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,600,943 (GRCm39) |
D2868G |
probably benign |
Het |
| Prl3d2 |
T |
C |
13: 27,309,985 (GRCm39) |
L149P |
probably damaging |
Het |
| Purg |
A |
T |
8: 33,876,773 (GRCm39) |
H137L |
probably benign |
Het |
| Slc38a8 |
A |
T |
8: 120,222,872 (GRCm39) |
L150Q |
probably damaging |
Het |
| Tifab |
T |
A |
13: 56,324,025 (GRCm39) |
R139S |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,400,442 (GRCm39) |
H353R |
probably benign |
Het |
| Ulbp3 |
A |
T |
10: 3,070,180 (GRCm39) |
|
noncoding transcript |
Het |
| Upk2 |
A |
G |
9: 44,365,086 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
G |
A |
15: 88,484,823 (GRCm39) |
V53I |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,362 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
C |
T |
9: 22,190,381 (GRCm39) |
E176K |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,504,559 (GRCm39) |
W140R |
possibly damaging |
Het |
|
| Other mutations in Grm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1053:Grm2
|
UTSW |
9 |
106,525,356 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1593:Grm2
|
UTSW |
9 |
106,528,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Grm2
|
UTSW |
9 |
106,524,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Grm2
|
UTSW |
9 |
106,524,994 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2357:Grm2
|
UTSW |
9 |
106,524,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3115:Grm2
|
UTSW |
9 |
106,524,822 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4453:Grm2
|
UTSW |
9 |
106,531,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4700:Grm2
|
UTSW |
9 |
106,531,130 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4854:Grm2
|
UTSW |
9 |
106,531,331 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4871:Grm2
|
UTSW |
9 |
106,524,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4888:Grm2
|
UTSW |
9 |
106,527,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4999:Grm2
|
UTSW |
9 |
106,531,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Grm2
|
UTSW |
9 |
106,528,275 (GRCm39) |
splice site |
probably null |
|
|
R5620:Grm2
|
UTSW |
9 |
106,527,645 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6021:Grm2
|
UTSW |
9 |
106,527,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Grm2
|
UTSW |
9 |
106,531,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Grm2
|
UTSW |
9 |
106,525,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7061:Grm2
|
UTSW |
9 |
106,528,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7266:Grm2
|
UTSW |
9 |
106,524,370 (GRCm39) |
missense |
|
|
|
R7270:Grm2
|
UTSW |
9 |
106,528,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7479:Grm2
|
UTSW |
9 |
106,531,050 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7542:Grm2
|
UTSW |
9 |
106,528,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8960:Grm2
|
UTSW |
9 |
106,531,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9028:Grm2
|
UTSW |
9 |
106,528,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9150:Grm2
|
UTSW |
9 |
106,524,657 (GRCm39) |
missense |
|
|
|
R9333:Grm2
|
UTSW |
9 |
106,525,416 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9345:Grm2
|
UTSW |
9 |
106,528,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9520:Grm2
|
UTSW |
9 |
106,525,230 (GRCm39) |
missense |
|
|
|
R9594:Grm2
|
UTSW |
9 |
106,524,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Grm2
|
UTSW |
9 |
106,522,264 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCCCAGCAGAATGTAGCAAAG -3'
(R):5'- AATGGGCGCTATCGCTACCAGAAG -3'
Sequencing Primer
(F):5'- GTTATGCCGCACGAAGAC -3'
(R):5'- CTATCGCTACCAGAAGGTAGGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation