Incidental Mutation 'IGL02039:Grin1'
| ID |
184640 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25195354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 246
(V246M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109953
(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: V246M
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: V246M
| 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: V246M
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: V246M
| 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 |
possibly damaging
Transcript: ENSMUST00000114308
AA Change: V267M
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: V267M
| 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 |
possibly damaging
Transcript: ENSMUST00000114310
AA Change: V267M
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: V267M
| 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: V246M
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: V246M
| 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: V246M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: V246M
| 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: ENSMUST00000114317
AA Change: V267M
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: V267M
| 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 |
possibly damaging
Transcript: ENSMUST00000114318
AA Change: V267M
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: V267M
| 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: ENSMUST00000127171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153551
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,193 (GRCm39) |
Y2313* |
probably null |
Het |
| Arhgef12 |
A |
G |
9: 42,883,563 (GRCm39) |
I1323T |
probably benign |
Het |
| C87436 |
A |
G |
6: 86,430,677 (GRCm39) |
M366V |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,350,464 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
T |
C |
12: 21,351,457 (GRCm39) |
M326T |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,649,482 (GRCm39) |
V64A |
probably damaging |
Het |
| Csnka2ip |
G |
A |
16: 64,298,957 (GRCm39) |
S25F |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,524,769 (GRCm39) |
F168L |
possibly damaging |
Het |
| Dhx8 |
T |
C |
11: 101,654,853 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
A |
11: 69,390,038 (GRCm39) |
I736F |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,943,969 (GRCm39) |
E454G |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,450,718 (GRCm39) |
V1482A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,195,425 (GRCm39) |
L375P |
unknown |
Het |
| Foxm1 |
T |
C |
6: 128,346,323 (GRCm39) |
Y85H |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,600 (GRCm39) |
E631G |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,070,895 (GRCm39) |
D265G |
probably damaging |
Het |
| Gprc5c |
C |
T |
11: 114,755,312 (GRCm39) |
Q330* |
probably null |
Het |
| Ifitm3 |
C |
A |
7: 140,590,563 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
G |
A |
9: 65,091,162 (GRCm39) |
V648I |
probably benign |
Het |
| Ighv5-2 |
A |
G |
12: 113,542,214 (GRCm39) |
I87T |
probably benign |
Het |
| Imp4 |
G |
A |
1: 34,482,849 (GRCm39) |
|
probably null |
Het |
| Ino80 |
T |
C |
2: 119,210,554 (GRCm39) |
N1327D |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,069,736 (GRCm39) |
I830V |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,424,901 (GRCm39) |
Y4696C |
possibly damaging |
Het |
| Nrl |
T |
C |
14: 55,759,567 (GRCm39) |
E120G |
probably benign |
Het |
| Nsmaf |
T |
A |
4: 6,424,995 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
T |
C |
2: 80,473,119 (GRCm39) |
M64T |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,230,959 (GRCm39) |
N470I |
probably benign |
Het |
| Oga |
A |
T |
19: 45,762,142 (GRCm39) |
V237E |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,340 (GRCm39) |
I81N |
possibly damaging |
Het |
| Or9i1 |
C |
T |
19: 13,840,083 (GRCm39) |
Q309* |
probably null |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,155,032 (GRCm39) |
T287A |
probably benign |
Het |
| Pkd2l2 |
G |
T |
18: 34,568,421 (GRCm39) |
|
probably null |
Het |
| Pola2 |
A |
T |
19: 5,998,497 (GRCm39) |
I355N |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,823,022 (GRCm39) |
R15* |
probably null |
Het |
| Prpf40a |
T |
C |
2: 53,034,815 (GRCm39) |
D749G |
probably damaging |
Het |
| Rhoh |
T |
C |
5: 66,049,981 (GRCm39) |
S84P |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,957,213 (GRCm39) |
|
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,144,980 (GRCm39) |
I454T |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,693,537 (GRCm39) |
D28G |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,527,650 (GRCm39) |
I195T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,123,980 (GRCm39) |
|
probably null |
Het |
| Thbd |
T |
C |
2: 148,248,462 (GRCm39) |
T469A |
probably benign |
Het |
| Thoc5 |
T |
C |
11: 4,872,027 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,380 (GRCm39) |
S127G |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,610 (GRCm39) |
E408G |
probably damaging |
Het |
| Yars1 |
A |
T |
4: 129,109,052 (GRCm39) |
I428F |
probably damaging |
Het |
| Zglp1 |
T |
C |
9: 20,978,335 (GRCm39) |
E14G |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation