Incidental Mutation 'R2878:Grin1'
| ID |
260156 |
| 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 |
040466-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2878 (G1)
|
| Quality Score |
138 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25187641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 594
(V594A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109957
(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: V573A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: V573A
| 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: V573A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: V573A
| 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: V594A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: V594A
| 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: V594A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: V594A
| 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: V573A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: V573A
| 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: V573A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: V573A
| 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: V594A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: V594A
| 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: V594A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: V594A
| 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: ENSMUST00000129723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135426
|
| Meta Mutation Damage Score |
0.9125 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (58/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,241,889 (GRCm39) |
L1251F |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,689,755 (GRCm39) |
M384K |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,570,817 (GRCm39) |
F404L |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,557,774 (GRCm39) |
T251M |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,288,437 (GRCm39) |
V309I |
possibly damaging |
Het |
| Ano2 |
T |
G |
6: 125,840,481 (GRCm39) |
F384C |
probably damaging |
Het |
| Aplf |
G |
A |
6: 87,645,409 (GRCm39) |
R32* |
probably null |
Het |
| Arhgef18 |
A |
G |
8: 3,482,759 (GRCm39) |
M155V |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,630,268 (GRCm39) |
Y374* |
probably null |
Het |
| Camkmt |
T |
C |
17: 85,738,979 (GRCm39) |
|
probably benign |
Het |
| Capn2 |
T |
A |
1: 182,344,798 (GRCm39) |
E41V |
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,674,732 (GRCm39) |
T112A |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,011,612 (GRCm39) |
E278K |
possibly damaging |
Het |
| Dact2 |
A |
T |
17: 14,416,176 (GRCm39) |
S675T |
probably damaging |
Het |
| Dync1li2 |
A |
C |
8: 105,156,047 (GRCm39) |
Y265D |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,717,603 (GRCm39) |
H58Q |
probably benign |
Het |
| F13b |
T |
C |
1: 139,429,485 (GRCm39) |
M1T |
probably null |
Het |
| Fam83b |
A |
G |
9: 76,398,092 (GRCm39) |
F1004L |
probably damaging |
Het |
| Fbxo48 |
A |
G |
11: 16,903,382 (GRCm39) |
K3E |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,010,534 (GRCm39) |
F368S |
probably damaging |
Het |
| Fbxw19 |
A |
T |
9: 109,315,038 (GRCm39) |
W175R |
probably damaging |
Het |
| Fibcd1 |
G |
A |
2: 31,728,678 (GRCm39) |
P60S |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,519,348 (GRCm39) |
V706E |
unknown |
Het |
| Gfm2 |
A |
G |
13: 97,289,757 (GRCm39) |
R181G |
possibly damaging |
Het |
| Gm17546 |
A |
T |
15: 95,727,805 (GRCm39) |
|
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,534 (GRCm39) |
V196A |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,006,682 (GRCm39) |
I427T |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,530 (GRCm39) |
E607V |
possibly damaging |
Het |
| Map3k4 |
T |
C |
17: 12,482,954 (GRCm39) |
S588G |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Naa80 |
A |
T |
9: 107,460,367 (GRCm39) |
E87D |
possibly damaging |
Het |
| Nebl |
C |
A |
2: 17,439,740 (GRCm39) |
D178Y |
probably damaging |
Het |
| Nfatc3 |
C |
A |
8: 106,818,776 (GRCm39) |
T498K |
probably damaging |
Het |
| Nfkb2 |
G |
A |
19: 46,295,880 (GRCm39) |
R158H |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,947,014 (GRCm39) |
E4337G |
possibly damaging |
Het |
| Or5b106 |
A |
G |
19: 13,123,771 (GRCm39) |
L84P |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,713,652 (GRCm39) |
V877A |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,649 (GRCm39) |
E333G |
probably damaging |
Het |
| Rem2 |
A |
G |
14: 54,713,819 (GRCm39) |
T31A |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,579,730 (GRCm39) |
D1224G |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,418,362 (GRCm39) |
S917P |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,518,715 (GRCm39) |
G363D |
probably damaging |
Het |
| Shcbp1l |
A |
T |
1: 153,313,264 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
G |
T |
18: 76,948,419 (GRCm39) |
E714* |
probably null |
Het |
| Slc15a1 |
T |
A |
14: 121,703,345 (GRCm39) |
K545N |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,591,512 (GRCm39) |
M414K |
probably damaging |
Het |
| Slc7a8 |
A |
G |
14: 54,997,143 (GRCm39) |
S70P |
probably damaging |
Het |
| Spopfm1 |
G |
T |
3: 94,173,787 (GRCm39) |
C265F |
possibly damaging |
Het |
| Taf1a |
A |
G |
1: 183,179,173 (GRCm39) |
E117G |
probably damaging |
Het |
| Trem2 |
A |
G |
17: 48,658,141 (GRCm39) |
D135G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,567,409 (GRCm39) |
D27828G |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,089,105 (GRCm39) |
D258G |
probably benign |
Het |
| Unc80 |
TGTATTCCAGGCG |
TG |
1: 66,710,735 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
A |
C |
7: 12,444,954 (GRCm39) |
M433R |
probably benign |
Het |
| Wdr45 |
C |
T |
X: 7,593,611 (GRCm39) |
P271S |
probably damaging |
Het |
| Zfp410 |
A |
C |
12: 84,378,411 (GRCm39) |
N245T |
probably 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 |
|
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'- CACCTTAAATCGGCCAAAGG -3'
(R):5'- TAACAATGAGCGTGCGCAG -3'
Sequencing Primer
(F):5'- CCTTAAATCGGCCAAAGGGACTG -3'
(R):5'- TGCGCAGTACATAGAGTTCTCCAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation