Incidental Mutation 'R2915:Grin2d'
| ID |
254847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin2d
|
| Ensembl Gene |
ENSMUSG00000002771 |
| Gene Name |
glutamate receptor, ionotropic, NMDA2D (epsilon 4) |
| Synonyms |
GluN2D, GluRepsilon4, NMDAR2D, NR2D |
| MMRRC Submission |
040502-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.487)
|
| Stock # |
R2915 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45481307-45520708 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 45482781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002848]
[ENSMUST00000107723]
[ENSMUST00000131384]
[ENSMUST00000209484]
[ENSMUST00000211713]
[ENSMUST00000211265]
|
| AlphaFold |
Q03391 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000002848
AA Change: E1132G
|
| SMART Domains |
Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: E1132G
| 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: ENSMUST00000107723
|
| SMART Domains |
Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
42 |
113 |
8.6e-18 |
PFAM |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Blast:WD40
|
138 |
179 |
1e-18 |
BLAST |
|
WD40
|
203 |
243 |
1.58e-2 |
SMART |
|
WD40
|
249 |
290 |
5.47e-6 |
SMART |
|
WD40
|
297 |
336 |
2.22e-6 |
SMART |
|
WD40
|
342 |
382 |
2.59e-7 |
SMART |
|
Blast:WD40
|
404 |
442 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131384
|
| SMART Domains |
Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
44 |
112 |
2.7e-15 |
PFAM |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Blast:WD40
|
138 |
179 |
1e-18 |
BLAST |
|
WD40
|
203 |
243 |
1.58e-2 |
SMART |
|
WD40
|
249 |
290 |
5.47e-6 |
SMART |
|
WD40
|
297 |
336 |
2.22e-6 |
SMART |
|
WD40
|
342 |
382 |
2.59e-7 |
SMART |
|
Blast:WD40
|
404 |
442 |
1e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210177
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211713
AA Change: E1132G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211265
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Arhgap11a |
A |
G |
2: 113,663,853 (GRCm39) |
V810A |
probably damaging |
Het |
| B3gnt6 |
T |
C |
7: 97,842,800 (GRCm39) |
N387D |
probably benign |
Het |
| Col5a2 |
C |
G |
1: 45,452,656 (GRCm39) |
G358R |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,588,468 (GRCm39) |
K209R |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,464,741 (GRCm39) |
N32S |
unknown |
Het |
| Dusp13b |
T |
A |
14: 21,790,205 (GRCm39) |
N47I |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,139,573 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,172 (GRCm39) |
F110L |
probably damaging |
Het |
| Gabrb2 |
T |
A |
11: 42,482,734 (GRCm39) |
N197K |
probably benign |
Het |
| Gdnf |
T |
A |
15: 7,845,130 (GRCm39) |
V41E |
possibly damaging |
Het |
| Gm21915 |
A |
G |
9: 40,582,083 (GRCm39) |
I59V |
possibly damaging |
Het |
| Gprin2 |
C |
T |
14: 33,917,038 (GRCm39) |
G244D |
possibly damaging |
Het |
| Ice2 |
A |
G |
9: 69,318,122 (GRCm39) |
D241G |
probably benign |
Het |
| Mios |
C |
T |
6: 8,214,935 (GRCm39) |
R44C |
possibly damaging |
Het |
| Nlrp5-ps |
T |
C |
7: 14,320,636 (GRCm39) |
|
noncoding transcript |
Het |
| Nyap2 |
C |
T |
1: 81,065,188 (GRCm39) |
R67* |
probably null |
Het |
| Or4d6 |
G |
A |
19: 12,085,989 (GRCm39) |
P81L |
probably benign |
Het |
| Or4f14 |
G |
T |
2: 111,743,064 (GRCm39) |
D70E |
probably damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,389 (GRCm39) |
V76E |
probably damaging |
Het |
| Or5t9 |
T |
C |
2: 86,659,570 (GRCm39) |
I158T |
probably benign |
Het |
| Or8g19 |
G |
T |
9: 39,055,762 (GRCm39) |
R122L |
possibly damaging |
Het |
| Otop2 |
G |
A |
11: 115,219,972 (GRCm39) |
A271T |
probably benign |
Het |
| Otulin |
A |
G |
15: 27,619,716 (GRCm39) |
|
probably benign |
Het |
| Pax1 |
A |
G |
2: 147,210,348 (GRCm39) |
Y361C |
probably damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,693 (GRCm39) |
N613I |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,534,925 (GRCm39) |
K173E |
probably damaging |
Het |
| Plin4 |
T |
A |
17: 56,411,389 (GRCm39) |
T881S |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,655,771 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,240,077 (GRCm39) |
F898I |
probably damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,112 (GRCm39) |
H794Q |
probably benign |
Het |
| Prss1 |
A |
T |
6: 41,439,545 (GRCm39) |
I93F |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,391,239 (GRCm39) |
|
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,486,728 (GRCm39) |
C42R |
probably damaging |
Het |
| Rnf20 |
A |
G |
4: 49,638,769 (GRCm39) |
E197G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,062,336 (GRCm39) |
E2260G |
probably damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,992,616 (GRCm39) |
S296P |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,810,102 (GRCm39) |
|
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,948,215 (GRCm39) |
V41A |
probably damaging |
Het |
| Ssu2 |
A |
T |
6: 112,354,566 (GRCm39) |
C219* |
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,040,563 (GRCm39) |
V360D |
possibly damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,006,895 (GRCm39) |
D920N |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,755,692 (GRCm39) |
T154A |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wac |
A |
C |
18: 7,926,131 (GRCm39) |
M596L |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,302,014 (GRCm39) |
P1990Q |
probably damaging |
Het |
| Zfp853 |
T |
C |
5: 143,275,332 (GRCm39) |
E96G |
unknown |
Het |
| Zzef1 |
G |
A |
11: 72,801,152 (GRCm39) |
|
probably null |
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 |
|
IGL01952:Grin2d
|
APN |
7 |
45,511,704 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTCCTCCAGCGAACG -3'
(R):5'- TTCTGACCCCGAGAGCCAG -3'
Sequencing Primer
(F):5'- GTCGCGGACAACCACAG -3'
(R):5'- AGCCGCTGTTGGGTGGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation