Incidental Mutation 'IGL01952:Grin2d'
ID |
181087 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Grin2d
|
Ensembl Gene |
ENSMUSG00000002771 |
Gene Name |
glutamate receptor, ionotropic, NMDA2D (epsilon 4) |
Synonyms |
GluN2D, GluRepsilon4, NMDAR2D, NR2D |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.487)
|
Stock # |
IGL01952
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45481307-45520708 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 45511704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 247
(R247L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002848]
[ENSMUST00000211250]
[ENSMUST00000211713]
|
AlphaFold |
Q03391 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002848
AA Change: R247L
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000002848 Gene: ENSMUSG00000002771 AA Change: R247L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
low complexity region
|
60 |
73 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
89 |
330 |
1.7e-12 |
PFAM |
PBPe
|
428 |
823 |
4.11e-65 |
SMART |
Lig_chan-Glu_bd
|
471 |
527 |
7.88e-18 |
SMART |
transmembrane domain
|
843 |
862 |
N/A |
INTRINSIC |
low complexity region
|
896 |
931 |
N/A |
INTRINSIC |
low complexity region
|
932 |
943 |
N/A |
INTRINSIC |
low complexity region
|
969 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1039 |
N/A |
INTRINSIC |
low complexity region
|
1065 |
1091 |
N/A |
INTRINSIC |
low complexity region
|
1095 |
1120 |
N/A |
INTRINSIC |
low complexity region
|
1192 |
1247 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211250
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211713
AA Change: R247L
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010] PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced spontaneous activity and an elevated auditory brainstem response threshold. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Astl |
T |
C |
2: 127,184,398 (GRCm39) |
|
probably null |
Het |
Bod1l |
C |
T |
5: 41,974,297 (GRCm39) |
C2339Y |
possibly damaging |
Het |
Celsr1 |
T |
A |
15: 85,847,424 (GRCm39) |
I1438F |
probably benign |
Het |
Dbr1 |
T |
A |
9: 99,464,465 (GRCm39) |
N297K |
possibly damaging |
Het |
Dmxl1 |
A |
G |
18: 50,023,721 (GRCm39) |
H1668R |
probably benign |
Het |
Dnai3 |
T |
C |
3: 145,802,918 (GRCm39) |
H91R |
probably damaging |
Het |
Dnajb11 |
A |
G |
16: 22,684,250 (GRCm39) |
E91G |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hacl1 |
C |
T |
14: 31,363,079 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,018,075 (GRCm39) |
T1854K |
possibly damaging |
Het |
Htr1d |
T |
C |
4: 136,170,872 (GRCm39) |
V367A |
probably benign |
Het |
Ifi208 |
T |
C |
1: 173,506,597 (GRCm39) |
S127P |
possibly damaging |
Het |
Ifngr2 |
C |
T |
16: 91,356,876 (GRCm39) |
P137S |
probably damaging |
Het |
Lcn9 |
T |
C |
2: 25,714,550 (GRCm39) |
L138P |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,723,657 (GRCm39) |
V2531A |
possibly damaging |
Het |
Meioc |
A |
T |
11: 102,563,011 (GRCm39) |
I70F |
possibly damaging |
Het |
Mideas |
G |
A |
12: 84,220,040 (GRCm39) |
P305S |
probably benign |
Het |
Mlph |
A |
C |
1: 90,861,193 (GRCm39) |
D276A |
probably benign |
Het |
Myh1 |
T |
A |
11: 67,111,218 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
G |
A |
7: 26,257,444 (GRCm39) |
S265N |
probably benign |
Het |
Ofcc1 |
G |
A |
13: 40,434,337 (GRCm39) |
A22V |
probably damaging |
Het |
Or11j4 |
T |
A |
14: 50,630,860 (GRCm39) |
F216I |
probably benign |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Prlr |
A |
G |
15: 10,328,428 (GRCm39) |
D301G |
possibly damaging |
Het |
Ptk2 |
T |
C |
15: 73,101,780 (GRCm39) |
E810G |
probably damaging |
Het |
Slco1b2 |
T |
G |
6: 141,616,956 (GRCm39) |
F430V |
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Supt6 |
T |
C |
11: 78,116,586 (GRCm39) |
K646R |
probably benign |
Het |
Tmem260 |
C |
T |
14: 48,709,933 (GRCm39) |
A52V |
probably damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
Vwa5b1 |
G |
A |
4: 138,308,528 (GRCm39) |
P770S |
probably benign |
Het |
Zfp639 |
A |
G |
3: 32,569,496 (GRCm39) |
Y18C |
probably damaging |
Het |
|
Other mutations in Grin2d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01097:Grin2d
|
APN |
7 |
45,502,716 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01772:Grin2d
|
APN |
7 |
45,507,890 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01994:Grin2d
|
APN |
7 |
45,507,396 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02161:Grin2d
|
APN |
7 |
45,503,846 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03180:Grin2d
|
APN |
7 |
45,502,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R1121:Grin2d
|
UTSW |
7 |
45,503,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R1934:Grin2d
|
UTSW |
7 |
45,506,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R2915:Grin2d
|
UTSW |
7 |
45,482,781 (GRCm39) |
unclassified |
probably benign |
|
R4162:Grin2d
|
UTSW |
7 |
45,507,042 (GRCm39) |
missense |
probably damaging |
0.98 |
R4753:Grin2d
|
UTSW |
7 |
45,483,330 (GRCm39) |
missense |
probably damaging |
0.98 |
R4781:Grin2d
|
UTSW |
7 |
45,511,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R4785:Grin2d
|
UTSW |
7 |
45,506,205 (GRCm39) |
missense |
probably damaging |
0.96 |
R4820:Grin2d
|
UTSW |
7 |
45,507,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R4877:Grin2d
|
UTSW |
7 |
45,504,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R4979:Grin2d
|
UTSW |
7 |
45,507,357 (GRCm39) |
missense |
probably benign |
0.03 |
R5092:Grin2d
|
UTSW |
7 |
45,503,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R6364:Grin2d
|
UTSW |
7 |
45,507,878 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6565:Grin2d
|
UTSW |
7 |
45,484,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R6747:Grin2d
|
UTSW |
7 |
45,511,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R6816:Grin2d
|
UTSW |
7 |
45,483,106 (GRCm39) |
unclassified |
probably benign |
|
R7072:Grin2d
|
UTSW |
7 |
45,506,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R7237:Grin2d
|
UTSW |
7 |
45,515,600 (GRCm39) |
nonsense |
probably null |
|
R7243:Grin2d
|
UTSW |
7 |
45,515,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R7385:Grin2d
|
UTSW |
7 |
45,506,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R7577:Grin2d
|
UTSW |
7 |
45,511,803 (GRCm39) |
missense |
probably benign |
0.01 |
R8100:Grin2d
|
UTSW |
7 |
45,483,171 (GRCm39) |
missense |
unknown |
|
R8179:Grin2d
|
UTSW |
7 |
45,507,452 (GRCm39) |
nonsense |
probably null |
|
R8877:Grin2d
|
UTSW |
7 |
45,503,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R8988:Grin2d
|
UTSW |
7 |
45,483,425 (GRCm39) |
nonsense |
probably null |
|
R9179:Grin2d
|
UTSW |
7 |
45,506,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Grin2d
|
UTSW |
7 |
45,506,948 (GRCm39) |
missense |
possibly damaging |
0.62 |
Z1177:Grin2d
|
UTSW |
7 |
45,482,601 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-05-07 |