Incidental Mutation 'R8960:Grin1'
ID |
723567 |
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 # |
R8960 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 25195428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 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: 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 |
probably benign
Transcript: ENSMUST00000114312
|
SMART Domains |
Protein: ENSMUSP00000109951 Gene: ENSMUSG00000026959
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
|
SMART Domains |
Protein: ENSMUSP00000109953 Gene: ENSMUSG00000026959
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 benign
Transcript: ENSMUST00000114317
|
SMART Domains |
Protein: ENSMUSP00000109956 Gene: ENSMUSG00000026959
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
|
SMART Domains |
Protein: ENSMUSP00000109957 Gene: ENSMUSG00000026959
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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
100% (78/78) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
G |
A |
9: 44,186,063 (GRCm39) |
Q603* |
probably null |
Het |
Adar |
A |
G |
3: 89,647,516 (GRCm39) |
Y165C |
probably damaging |
Het |
Afp |
A |
G |
5: 90,651,500 (GRCm39) |
T372A |
probably benign |
Het |
Asah1 |
T |
A |
8: 41,800,061 (GRCm39) |
L184F |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,067,132 (GRCm39) |
E3548G |
probably damaging |
Het |
Bpifb2 |
A |
T |
2: 153,731,046 (GRCm39) |
I206F |
possibly damaging |
Het |
Btn1a1 |
C |
A |
13: 23,648,741 (GRCm39) |
D31Y |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,952,892 (GRCm39) |
D1110V |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,429,178 (GRCm39) |
D1901V |
probably damaging |
Het |
Cd101 |
A |
G |
3: 100,910,817 (GRCm39) |
V947A |
probably benign |
Het |
Cd55b |
A |
T |
1: 130,338,375 (GRCm39) |
S238T |
possibly damaging |
Het |
Cdc25c |
T |
C |
18: 34,866,329 (GRCm39) |
I437V |
possibly damaging |
Het |
Cfap97 |
T |
C |
8: 46,623,605 (GRCm39) |
S332P |
probably damaging |
Het |
Chpf |
A |
G |
1: 75,452,398 (GRCm39) |
L352P |
probably damaging |
Het |
Cntln |
T |
A |
4: 85,018,961 (GRCm39) |
M1217K |
possibly damaging |
Het |
Cntrl |
A |
G |
2: 35,052,053 (GRCm39) |
E1629G |
possibly damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,474,396 (GRCm39) |
Y206H |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 38,995,547 (GRCm39) |
W20R |
probably null |
Het |
Dhx35 |
A |
T |
2: 158,657,393 (GRCm39) |
H130L |
possibly damaging |
Het |
Dnm1 |
A |
G |
2: 32,202,741 (GRCm39) |
V54A |
probably damaging |
Het |
Eea1 |
T |
A |
10: 95,864,381 (GRCm39) |
S967T |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,820,772 (GRCm39) |
|
probably benign |
Het |
Elf3 |
A |
T |
1: 135,182,813 (GRCm39) |
I304N |
probably damaging |
Het |
Eps8l1 |
G |
T |
7: 4,481,214 (GRCm39) |
R672L |
probably damaging |
Het |
Fam163a |
A |
T |
1: 155,954,862 (GRCm39) |
C96* |
probably null |
Het |
Fancd2 |
T |
C |
6: 113,540,129 (GRCm39) |
|
probably null |
Het |
Fbxo3 |
C |
T |
2: 103,858,274 (GRCm39) |
L23F |
possibly damaging |
Het |
Fbxw14 |
A |
G |
9: 109,114,367 (GRCm39) |
V121A |
possibly damaging |
Het |
Fgd6 |
T |
A |
10: 93,880,868 (GRCm39) |
V574D |
probably benign |
Het |
Gask1b |
T |
C |
3: 79,794,293 (GRCm39) |
S254P |
probably benign |
Het |
Gbp11 |
A |
G |
5: 105,479,251 (GRCm39) |
F124S |
probably damaging |
Het |
Grm2 |
T |
G |
9: 106,531,345 (GRCm39) |
E48A |
probably benign |
Het |
H2-M10.5 |
T |
A |
17: 37,084,770 (GRCm39) |
Y165N |
probably benign |
Het |
Hoxa13 |
A |
C |
6: 52,236,976 (GRCm39) |
S172A |
probably benign |
Het |
Ifih1 |
T |
A |
2: 62,442,235 (GRCm39) |
K376N |
possibly damaging |
Het |
Insrr |
C |
A |
3: 87,720,386 (GRCm39) |
T1008K |
probably damaging |
Het |
Itih1 |
A |
G |
14: 30,655,414 (GRCm39) |
S594P |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,106,914 (GRCm39) |
S1365P |
probably benign |
Het |
Malrd1 |
A |
T |
2: 15,570,241 (GRCm39) |
K158* |
probably null |
Het |
Man2c1 |
G |
A |
9: 57,045,279 (GRCm39) |
G504R |
probably damaging |
Het |
Mbd1 |
T |
C |
18: 74,406,890 (GRCm39) |
|
probably null |
Het |
Micall2 |
G |
A |
5: 139,702,025 (GRCm39) |
A323V |
probably benign |
Het |
Mroh9 |
A |
C |
1: 162,883,196 (GRCm39) |
F428V |
probably benign |
Het |
Myo7b |
T |
A |
18: 32,127,299 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
T |
1: 151,591,463 (GRCm39) |
H535L |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,922,438 (GRCm39) |
V6567E |
probably damaging |
Het |
Or1e28-ps1 |
A |
C |
11: 73,615,230 (GRCm39) |
S207A |
unknown |
Het |
Or1e33 |
A |
T |
11: 73,738,167 (GRCm39) |
C261* |
probably null |
Het |
Or2g25 |
T |
A |
17: 37,970,760 (GRCm39) |
T155S |
probably benign |
Het |
Or2y1d |
A |
T |
11: 49,321,543 (GRCm39) |
Q80L |
probably benign |
Het |
Or5h25 |
T |
A |
16: 58,930,555 (GRCm39) |
R139S |
probably benign |
Het |
Or8b53 |
A |
T |
9: 38,667,385 (GRCm39) |
I134F |
possibly damaging |
Het |
Pde4dip |
T |
C |
3: 97,700,464 (GRCm39) |
D238G |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Pgbd5 |
T |
A |
8: 125,111,175 (GRCm39) |
Y172F |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,795,176 (GRCm39) |
T2288A |
probably damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,137,239 (GRCm39) |
M1K |
probably null |
Het |
Rc3h1 |
A |
G |
1: 160,774,164 (GRCm39) |
T344A |
probably damaging |
Het |
Rgs5 |
T |
C |
1: 169,504,461 (GRCm39) |
V37A |
possibly damaging |
Het |
Rgs9 |
A |
G |
11: 109,139,815 (GRCm39) |
S17P |
possibly damaging |
Het |
Rusc1 |
T |
A |
3: 88,991,865 (GRCm39) |
D407V |
probably damaging |
Het |
Rwdd1 |
T |
A |
10: 33,895,383 (GRCm39) |
I18F |
possibly damaging |
Het |
Satb2 |
C |
T |
1: 56,910,470 (GRCm39) |
|
probably null |
Het |
Sds |
A |
G |
5: 120,621,659 (GRCm39) |
E267G |
probably damaging |
Het |
Sema4b |
T |
A |
7: 79,875,076 (GRCm39) |
V822E |
probably damaging |
Het |
Sfxn5 |
A |
T |
6: 85,266,176 (GRCm39) |
M107K |
probably damaging |
Het |
Slc5a8 |
C |
T |
10: 88,722,035 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,387,048 (GRCm39) |
D6G |
probably damaging |
Het |
Syt14 |
A |
C |
1: 192,666,515 (GRCm39) |
|
probably benign |
Het |
Vmn2r124 |
T |
G |
17: 18,283,291 (GRCm39) |
Y328* |
probably null |
Het |
Vmn2r86 |
T |
A |
10: 130,289,672 (GRCm39) |
E74D |
probably benign |
Het |
Vmo1 |
A |
C |
11: 70,404,476 (GRCm39) |
L175W |
probably damaging |
Het |
Vps13a |
G |
T |
19: 16,683,247 (GRCm39) |
L982I |
possibly damaging |
Het |
Wdr19 |
T |
C |
5: 65,398,211 (GRCm39) |
V812A |
probably benign |
Het |
Wdr27 |
T |
C |
17: 15,103,908 (GRCm39) |
I733V |
probably benign |
Het |
Wdr54 |
A |
T |
6: 83,132,739 (GRCm39) |
H38Q |
probably damaging |
Het |
Wdr76 |
G |
A |
2: 121,341,104 (GRCm39) |
V50I |
probably damaging |
Het |
Zfp930 |
T |
A |
8: 69,680,541 (GRCm39) |
N59K |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
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 |
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 |
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'- TTGCCGTTGATTAGCTGAAGTC -3'
(R):5'- AGCCCAGCAACTTAAGACTG -3'
Sequencing Primer
(F):5'- ATTAGCTGAAGTCCGATGATGCC -3'
(R):5'- CTTAAGACTGGAAAGGCCCTG -3'
|
Posted On |
2022-08-29 |