Incidental Mutation 'PIT4283001:Grin1'
| ID |
554343 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4283001 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25187864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 544
(R544H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028335]
[ENSMUST00000114307]
[ENSMUST00000114308]
[ENSMUST00000114310]
[ENSMUST00000114312]
[ENSMUST00000114314]
[ENSMUST00000114317]
[ENSMUST00000114318]
|
| AlphaFold |
P35438 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028335
AA Change: R523H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: R523H
| 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 damaging
Transcript: ENSMUST00000114307
AA Change: R523H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: R523H
| 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 damaging
Transcript: ENSMUST00000114308
AA Change: R544H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: R544H
| 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 damaging
Transcript: ENSMUST00000114310
AA Change: R544H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: R544H
| 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 |
probably damaging
Transcript: ENSMUST00000114312
AA Change: R523H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: R523H
| 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 damaging
Transcript: ENSMUST00000114314
AA Change: R523H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: R523H
| 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 |
probably damaging
Transcript: ENSMUST00000114317
AA Change: R544H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: R544H
| 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 damaging
Transcript: ENSMUST00000114318
AA Change: R544H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: R544H
| 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 |
|
| Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.1%
- 10x: 86.5%
- 20x: 76.2%
|
| Validation Efficiency |
|
| 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 |
|---|
| 2610028H24Rik |
A |
C |
10: 76,285,093 (GRCm39) |
M1L |
probably benign |
Het |
| Aacs |
C |
A |
5: 125,561,719 (GRCm39) |
A119D |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,863,693 (GRCm39) |
V216D |
probably damaging |
Het |
| Adap2 |
T |
A |
11: 80,068,089 (GRCm39) |
L367H |
probably damaging |
Het |
| Adcy7 |
T |
A |
8: 89,042,120 (GRCm39) |
M373K |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,429,354 (GRCm39) |
L507P |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,521,953 (GRCm39) |
D1718G |
probably damaging |
Het |
| Cacna2d1 |
A |
C |
5: 16,507,292 (GRCm39) |
Y347S |
probably benign |
Het |
| Carf |
C |
A |
1: 60,167,161 (GRCm39) |
P165T |
probably benign |
Het |
| Cplx3 |
T |
C |
9: 57,523,359 (GRCm39) |
E66G |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,151,917 (GRCm39) |
T523A |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,161,739 (GRCm39) |
S326P |
probably benign |
Het |
| Eif4enif1 |
A |
T |
11: 3,184,464 (GRCm39) |
E528D |
probably damaging |
Het |
| Elp2 |
G |
A |
18: 24,755,187 (GRCm39) |
D392N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,482,577 (GRCm39) |
S3079P |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,490,244 (GRCm39) |
V3719F |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,917,897 (GRCm39) |
S1509C |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,614,064 (GRCm39) |
V693A |
probably benign |
Het |
| Frmpd4 |
C |
T |
X: 166,512,030 (GRCm39) |
R8H |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,058,129 (GRCm39) |
I380N |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
| Gramd1b |
C |
T |
9: 40,366,752 (GRCm39) |
G72D |
probably benign |
Het |
| Gramd2b |
A |
T |
18: 56,622,735 (GRCm39) |
E299V |
probably damaging |
Het |
| Ifitm7 |
A |
T |
16: 13,801,471 (GRCm39) |
V96E |
probably damaging |
Het |
| Lsm14b |
T |
A |
2: 179,674,336 (GRCm39) |
M293K |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,946,432 (GRCm39) |
T1230S |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,355,042 (GRCm39) |
H910L |
probably benign |
Het |
| Mylip |
A |
G |
13: 45,560,110 (GRCm39) |
N247S |
possibly damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,696 (GRCm39) |
I116T |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,420,572 (GRCm39) |
M296V |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,323,068 (GRCm39) |
S264G |
probably benign |
Het |
| Pds5b |
C |
T |
5: 150,701,774 (GRCm39) |
R802W |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,864 (GRCm39) |
E41G |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,990,489 (GRCm39) |
I112T |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,020,921 (GRCm39) |
M1T |
probably null |
Het |
| Rtel1 |
T |
C |
2: 180,988,683 (GRCm39) |
I417T |
probably benign |
Het |
| Sirt1 |
A |
T |
10: 63,157,565 (GRCm39) |
N616K |
probably benign |
Het |
| Sirt6 |
T |
C |
10: 81,458,252 (GRCm39) |
S334G |
possibly damaging |
Het |
| Strc |
T |
C |
2: 121,205,788 (GRCm39) |
Y827C |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,597,594 (GRCm39) |
Y385H |
possibly damaging |
Het |
| Tgm5 |
T |
C |
2: 120,902,066 (GRCm39) |
E201G |
possibly damaging |
Het |
| Thbd |
G |
C |
2: 148,249,003 (GRCm39) |
N288K |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,169,064 (GRCm39) |
N1068K |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,904,756 (GRCm39) |
E361G |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,835,158 (GRCm39) |
N2736S |
|
Het |
| Vwa5b1 |
A |
G |
4: 138,327,574 (GRCm39) |
L334P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,355 (GRCm39) |
S4226P |
unknown |
Het |
| Zdhhc24 |
T |
C |
19: 4,928,778 (GRCm39) |
M1T |
probably null |
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 |
|
|
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 |
|
R6616:Grin1
|
UTSW |
2 |
25,182,122 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- AATGAGTCCAGTGTGCTCCG -3'
(R):5'- AGGGCAAAGTCTATGGGCTG -3'
Sequencing Primer
(F):5'- AGTGTGCTCCGAGGGATCTC -3'
(R):5'- GCTAAGCCTACTATGGTCCATGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation