Incidental Mutation 'R6616:Grin1'
| ID |
524016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin1
|
| Ensembl Gene |
ENSMUSG00000026959 |
| Gene Name |
glutamate receptor, ionotropic, NMDA1 (zeta 1) |
| Synonyms |
NR1, GluRzeta1, NMDAR1, M100174, Nmdar, Rgsc174 |
| MMRRC Submission |
044739-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25182122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 870
(I870F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028335]
[ENSMUST00000028337]
[ENSMUST00000028340]
[ENSMUST00000114307]
[ENSMUST00000114308]
[ENSMUST00000114310]
[ENSMUST00000114312]
[ENSMUST00000114317]
[ENSMUST00000114314]
[ENSMUST00000114318]
|
| AlphaFold |
P35438 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028335
|
| SMART Domains |
Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
6.6e-35 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
1.5e-18 |
PFAM |
|
PDB:3BYA|B
|
875 |
898 |
4e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028337
|
| SMART Domains |
Protein: ENSMUSP00000028337
Gene: ENSMUSG00000026961
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LRRNT
|
42 |
75 |
1.86e0 |
SMART |
|
LRR
|
72 |
93 |
7.57e0 |
SMART |
|
LRR
|
95 |
117 |
6.96e0 |
SMART |
|
LRR_TYP
|
118 |
141 |
1e-5 |
SMART |
|
LRR
|
142 |
165 |
6.22e0 |
SMART |
|
LRR
|
166 |
189 |
2.86e-1 |
SMART |
|
LRRCT
|
201 |
254 |
3.01e-5 |
SMART |
|
transmembrane domain
|
267 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028340
|
| SMART Domains |
Protein: ENSMUSP00000028340
Gene: ENSMUSG00000026963
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:TMEM210
|
32 |
144 |
1.1e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114307
|
| SMART Domains |
Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
1e-34 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
3.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114308
|
| SMART Domains |
Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
8e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114310
|
| SMART Domains |
Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
39 |
299 |
3.6e-24 |
PFAM |
|
Blast:PBPe
|
352 |
420 |
9e-37 |
BLAST |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
8.4e-17 |
PFAM |
|
PDB:3BYA|B
|
896 |
919 |
4e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114312
AA Change: I870F
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: I870F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
5.9e-35 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114317
AA Change: I891F
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: I891F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
7.7e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114314
AA Change: I907F
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: I907F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
357 |
1.1e-34 |
PFAM |
|
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
835 |
863 |
3.3e-19 |
PFAM |
|
PDB:3BYA|B
|
875 |
898 |
4e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114318
AA Change: I928F
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: I928F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
38 |
378 |
8.4e-31 |
PFAM |
|
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
|
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
|
Pfam:CaM_bdg_C0
|
856 |
884 |
3.4e-19 |
PFAM |
|
PDB:3BYA|B
|
896 |
919 |
4e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129723
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mutants lack whisker patterns in brain cortex, are ataxic and die neonatally of respiratory failure. Hypomorph mutants exhibit hyperactivity, stereotypy, and impaired social/sexual interactions. Mice homozygous for an ENU-induced allele exhibit abnormal behavior and neuron physiology. [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 |
|---|
| Abca3 |
A |
T |
17: 24,603,509 (GRCm39) |
H567L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,958 (GRCm39) |
M525K |
unknown |
Het |
| Alpi |
T |
C |
1: 87,028,836 (GRCm39) |
I74V |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,634 (GRCm39) |
V155L |
possibly damaging |
Het |
| Creb5 |
A |
C |
6: 53,662,295 (GRCm39) |
Q197H |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,306 (GRCm39) |
K225R |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,221 (GRCm39) |
E1143K |
possibly damaging |
Het |
| Eef2kmt |
T |
A |
16: 5,065,346 (GRCm39) |
D287V |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,285,326 (GRCm39) |
Y1046* |
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,743,850 (GRCm39) |
M252K |
probably benign |
Het |
| Fnip2 |
A |
C |
3: 79,388,189 (GRCm39) |
H847Q |
probably benign |
Het |
| Frmd3 |
A |
T |
4: 74,105,725 (GRCm39) |
D457V |
probably damaging |
Het |
| Gm13941 |
T |
G |
2: 110,931,520 (GRCm39) |
E37D |
unknown |
Het |
| Grin2b |
A |
C |
6: 135,709,549 (GRCm39) |
D1332E |
probably benign |
Het |
| Gtpbp4 |
G |
A |
13: 9,039,141 (GRCm39) |
T201I |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,026,904 (GRCm39) |
C118R |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,651 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,599,008 (GRCm39) |
|
probably null |
Het |
| Hpd |
A |
T |
5: 123,310,123 (GRCm39) |
L367Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,514,487 (GRCm39) |
I40T |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,295,684 (GRCm39) |
S464P |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,589,643 (GRCm39) |
D75V |
unknown |
Het |
| Map3k4 |
A |
T |
17: 12,490,231 (GRCm39) |
L400Q |
probably damaging |
Het |
| Mcts2 |
T |
A |
2: 152,529,582 (GRCm39) |
I131N |
possibly damaging |
Het |
| Mroh2b |
A |
C |
15: 4,982,764 (GRCm39) |
I1528L |
probably benign |
Het |
| Muc4 |
A |
C |
16: 32,602,378 (GRCm39) |
D3467A |
possibly damaging |
Het |
| Mypn |
A |
T |
10: 63,005,091 (GRCm39) |
C339S |
probably damaging |
Het |
| Ncoa5 |
A |
T |
2: 164,852,483 (GRCm39) |
Y130* |
probably null |
Het |
| Or11g27 |
T |
A |
14: 50,771,364 (GRCm39) |
I165N |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,442,868 (GRCm39) |
V98E |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,086,953 (GRCm39) |
T379A |
probably benign |
Het |
| Pkp4 |
C |
G |
2: 59,180,896 (GRCm39) |
Y720* |
probably null |
Het |
| Prl5a1 |
C |
T |
13: 28,333,839 (GRCm39) |
T114I |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,024,169 (GRCm39) |
S137P |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,994,579 (GRCm39) |
E680K |
possibly damaging |
Het |
| Sbsn |
T |
A |
7: 30,452,704 (GRCm39) |
V573D |
possibly damaging |
Het |
| Scaf8 |
A |
T |
17: 3,218,330 (GRCm39) |
L233F |
unknown |
Het |
| Sec23a |
A |
T |
12: 59,043,941 (GRCm39) |
I241K |
possibly damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,610,146 (GRCm39) |
S258T |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 111,975,427 (GRCm39) |
H121R |
possibly damaging |
Het |
| Sptbn1 |
T |
A |
11: 30,074,030 (GRCm39) |
E1346D |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stpg4 |
A |
G |
17: 87,730,124 (GRCm39) |
Y74H |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,057 (GRCm39) |
V374A |
possibly damaging |
Het |
| Unc45b |
G |
A |
11: 82,802,645 (GRCm39) |
R47Q |
probably damaging |
Het |
| Xirp1 |
A |
G |
9: 119,848,080 (GRCm39) |
S268P |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,715 (GRCm39) |
I238L |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,843,938 (GRCm39) |
D992G |
possibly damaging |
Het |
|
| Other mutations in Grin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01383:Grin1
|
APN |
2 |
25,186,979 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01627:Grin1
|
APN |
2 |
25,208,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Grin1
|
APN |
2 |
25,195,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02074:Grin1
|
APN |
2 |
25,188,514 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02083:Grin1
|
APN |
2 |
25,188,513 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03334:Grin1
|
APN |
2 |
25,188,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03349:Grin1
|
APN |
2 |
25,200,448 (GRCm39) |
missense |
probably benign |
|
|
PIT4283001:Grin1
|
UTSW |
2 |
25,187,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Grin1
|
UTSW |
2 |
25,187,471 (GRCm39) |
missense |
probably null |
0.82 |
|
R0829:Grin1
|
UTSW |
2 |
25,188,460 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1454:Grin1
|
UTSW |
2 |
25,182,442 (GRCm39) |
nonsense |
probably null |
|
|
R1550:Grin1
|
UTSW |
2 |
25,195,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1969:Grin1
|
UTSW |
2 |
25,187,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2057:Grin1
|
UTSW |
2 |
25,206,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2424:Grin1
|
UTSW |
2 |
25,208,664 (GRCm39) |
missense |
probably null |
1.00 |
|
R2877:Grin1
|
UTSW |
2 |
25,187,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Grin1
|
UTSW |
2 |
25,187,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3420:Grin1
|
UTSW |
2 |
25,193,926 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3422:Grin1
|
UTSW |
2 |
25,193,926 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3958:Grin1
|
UTSW |
2 |
25,203,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4222:Grin1
|
UTSW |
2 |
25,187,332 (GRCm39) |
intron |
probably benign |
|
|
R4224:Grin1
|
UTSW |
2 |
25,187,332 (GRCm39) |
intron |
probably benign |
|
|
R4225:Grin1
|
UTSW |
2 |
25,187,332 (GRCm39) |
intron |
probably benign |
|
|
R4409:Grin1
|
UTSW |
2 |
25,200,451 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4723:Grin1
|
UTSW |
2 |
25,184,482 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4775:Grin1
|
UTSW |
2 |
25,182,475 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4783:Grin1
|
UTSW |
2 |
25,182,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4784:Grin1
|
UTSW |
2 |
25,182,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4785:Grin1
|
UTSW |
2 |
25,182,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4829:Grin1
|
UTSW |
2 |
25,208,736 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4915:Grin1
|
UTSW |
2 |
25,188,565 (GRCm39) |
intron |
probably benign |
|
|
R5064:Grin1
|
UTSW |
2 |
25,193,843 (GRCm39) |
intron |
probably benign |
|
|
R5103:Grin1
|
UTSW |
2 |
25,200,433 (GRCm39) |
missense |
probably benign |
|
|
R5125:Grin1
|
UTSW |
2 |
25,186,839 (GRCm39) |
intron |
probably benign |
|
|
R5215:Grin1
|
UTSW |
2 |
25,193,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5419:Grin1
|
UTSW |
2 |
25,188,285 (GRCm39) |
splice site |
probably null |
|
|
R6119:Grin1
|
UTSW |
2 |
25,195,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Grin1
|
UTSW |
2 |
25,185,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Grin1
|
UTSW |
2 |
25,186,647 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7137:Grin1
|
UTSW |
2 |
25,203,550 (GRCm39) |
missense |
probably benign |
|
|
R7544:Grin1
|
UTSW |
2 |
25,195,086 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7693:Grin1
|
UTSW |
2 |
25,208,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7872:Grin1
|
UTSW |
2 |
25,188,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7986:Grin1
|
UTSW |
2 |
25,185,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Grin1
|
UTSW |
2 |
25,188,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Grin1
|
UTSW |
2 |
25,187,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8960:Grin1
|
UTSW |
2 |
25,195,428 (GRCm39) |
splice site |
probably benign |
|
|
R9219:Grin1
|
UTSW |
2 |
25,187,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9511:Grin1
|
UTSW |
2 |
25,187,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Grin1
|
UTSW |
2 |
25,187,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9532:Grin1
|
UTSW |
2 |
25,187,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Grin1
|
UTSW |
2 |
25,203,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9729:Grin1
|
UTSW |
2 |
25,187,422 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Grin1
|
UTSW |
2 |
25,195,110 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1176:Grin1
|
UTSW |
2 |
25,187,919 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGATGGGGCTGCCATTTC -3'
(R):5'- AGCTGTGTTCCCGTCATAGG -3'
Sequencing Primer
(F):5'- ACTGCTCAGAGACCTCAGG -3'
(R):5'- CCGTCATAGGGAGAGCTGAGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation