Incidental Mutation 'R4409:Grin1'
ID |
327785 |
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 |
041691-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4409 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25200451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 224
(N224D)
|
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 benign
Transcript: ENSMUST00000028335
AA Change: N203D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000028335 Gene: ENSMUSG00000026959 AA Change: N203D
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: ENSMUST00000114307
AA Change: N203D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000109946 Gene: ENSMUSG00000026959 AA Change: N203D
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
AA Change: N224D
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000109947 Gene: ENSMUSG00000026959 AA Change: N224D
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
AA Change: N224D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000109949 Gene: ENSMUSG00000026959 AA Change: N224D
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 benign
Transcript: ENSMUST00000114312
AA Change: N203D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109951 Gene: ENSMUSG00000026959 AA Change: N203D
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: ENSMUST00000114314
AA Change: N203D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000109953 Gene: ENSMUSG00000026959 AA Change: N203D
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: N224D
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109956 Gene: ENSMUSG00000026959 AA Change: N224D
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: ENSMUST00000114318
AA Change: N224D
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000109957 Gene: ENSMUSG00000026959 AA Change: N224D
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: ENSMUST00000144402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155627
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
T |
4: 144,447,872 (GRCm39) |
S35T |
possibly damaging |
Het |
Abcb5 |
A |
C |
12: 118,836,657 (GRCm39) |
L1085V |
probably damaging |
Het |
Adgrf5 |
T |
C |
17: 43,752,738 (GRCm39) |
V560A |
probably damaging |
Het |
Ambp |
C |
A |
4: 63,070,884 (GRCm39) |
S65I |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,914,506 (GRCm39) |
D1712G |
probably damaging |
Het |
Capn7 |
T |
C |
14: 31,077,296 (GRCm39) |
L338P |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,960,162 (GRCm39) |
S105T |
probably damaging |
Het |
Casr |
A |
G |
16: 36,320,703 (GRCm39) |
C482R |
probably benign |
Het |
Ccdc18 |
C |
T |
5: 108,368,708 (GRCm39) |
Q1277* |
probably null |
Het |
Clca3a1 |
A |
G |
3: 144,711,788 (GRCm39) |
F736L |
probably damaging |
Het |
Col6a1 |
T |
C |
10: 76,557,334 (GRCm39) |
H206R |
probably benign |
Het |
Crybg1 |
C |
T |
10: 43,874,754 (GRCm39) |
A785T |
possibly damaging |
Het |
Cyp2c68 |
T |
A |
19: 39,727,896 (GRCm39) |
E85D |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,976,303 (GRCm39) |
S1249G |
possibly damaging |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fbxw24 |
A |
T |
9: 109,437,256 (GRCm39) |
D210E |
probably damaging |
Het |
Fcgr1 |
T |
C |
3: 96,191,893 (GRCm39) |
Y305C |
probably benign |
Het |
Gm10226 |
G |
T |
17: 21,910,876 (GRCm39) |
C37F |
possibly damaging |
Het |
Greb1l |
A |
G |
18: 10,503,182 (GRCm39) |
Y411C |
possibly damaging |
Het |
H2-T5 |
T |
A |
17: 36,476,742 (GRCm39) |
H244L |
possibly damaging |
Het |
Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
Il1rap |
G |
A |
16: 26,531,015 (GRCm39) |
|
probably null |
Het |
Iqcg |
A |
G |
16: 32,865,888 (GRCm39) |
|
probably null |
Het |
Klhdc3 |
C |
T |
17: 46,987,944 (GRCm39) |
G249E |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Macrod2 |
T |
G |
2: 140,260,777 (GRCm39) |
H68Q |
possibly damaging |
Het |
Morn4 |
T |
C |
19: 42,066,986 (GRCm39) |
T2A |
possibly damaging |
Het |
Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
Msh5 |
T |
C |
17: 35,258,226 (GRCm39) |
D300G |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,807,955 (GRCm39) |
Y1859C |
probably damaging |
Het |
Nacc1 |
A |
G |
8: 85,399,673 (GRCm39) |
*515Q |
probably null |
Het |
Or1ad6 |
T |
A |
11: 50,860,223 (GRCm39) |
I126N |
probably damaging |
Het |
Or4n5 |
T |
A |
14: 50,133,230 (GRCm39) |
T10S |
probably benign |
Het |
Or5g29 |
T |
C |
2: 85,421,274 (GRCm39) |
L130S |
probably damaging |
Het |
Oxgr1 |
C |
T |
14: 120,259,572 (GRCm39) |
V212M |
possibly damaging |
Het |
P3h2 |
G |
C |
16: 25,924,040 (GRCm39) |
R132G |
possibly damaging |
Het |
Pcdha9 |
T |
A |
18: 37,132,198 (GRCm39) |
H422Q |
probably benign |
Het |
Pcdhga12 |
A |
G |
18: 37,901,138 (GRCm39) |
T657A |
probably damaging |
Het |
Pcx |
A |
G |
19: 4,660,031 (GRCm39) |
K442R |
possibly damaging |
Het |
Pkd2 |
T |
C |
5: 104,614,750 (GRCm39) |
|
silent |
Het |
Plg |
T |
G |
17: 12,609,150 (GRCm39) |
C152G |
probably damaging |
Het |
Plk4 |
A |
G |
3: 40,760,984 (GRCm39) |
E438G |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,560,653 (GRCm39) |
L3016P |
probably damaging |
Het |
Sdccag8 |
T |
G |
1: 176,695,932 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
T |
9: 64,855,506 (GRCm39) |
M467K |
probably benign |
Het |
Sorl1 |
T |
G |
9: 41,946,744 (GRCm39) |
I856L |
probably damaging |
Het |
Spag7 |
T |
C |
11: 70,555,688 (GRCm39) |
D83G |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmprss11b |
T |
C |
5: 86,812,137 (GRCm39) |
N170S |
probably benign |
Het |
Tnfrsf1b |
G |
A |
4: 144,950,855 (GRCm39) |
Q253* |
probably null |
Het |
Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,727,987 (GRCm39) |
|
probably benign |
Het |
Vmn1r213 |
A |
C |
13: 23,195,593 (GRCm39) |
|
probably benign |
Het |
Vmn1r54 |
C |
A |
6: 90,246,864 (GRCm39) |
Y259* |
probably null |
Het |
Vmn1r55 |
A |
G |
7: 5,150,075 (GRCm39) |
V116A |
probably benign |
Het |
Vmn2r120 |
T |
C |
17: 57,816,477 (GRCm39) |
N626S |
probably damaging |
Het |
Vmn2r58 |
A |
G |
7: 41,522,051 (GRCm39) |
F15S |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,520,768 (GRCm39) |
V400E |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,578,696 (GRCm39) |
I423M |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,401 (GRCm39) |
N514D |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,816,494 (GRCm39) |
H485Q |
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 |
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 |
|
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'- TTTGAATTGAAACTTGTTTTGCCC -3'
(R):5'- TCCAGCAAGTTGAAGAAGAGAC -3'
Sequencing Primer
(F):5'- GAAACTTGTTTTGCCCAATAGCGC -3'
(R):5'- GCAGCAAGGACAGGCCAC -3'
|
Posted On |
2015-07-07 |