Incidental Mutation 'R5419:Grin1'
ID |
427901 |
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 |
042987-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 25188285 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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000129723
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135426
|
Coding Region Coverage |
- 1x: 99.3%
- 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 |
4931429L15Rik |
C |
T |
9: 46,220,624 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,143,533 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
T |
7: 75,259,991 (GRCm39) |
T69S |
probably benign |
Het |
Arl1 |
T |
A |
10: 88,572,966 (GRCm39) |
C80S |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,162,916 (GRCm39) |
L926* |
probably null |
Het |
Brsk1 |
A |
G |
7: 4,712,003 (GRCm39) |
T618A |
possibly damaging |
Het |
Cep295 |
T |
C |
9: 15,235,533 (GRCm39) |
H1982R |
probably damaging |
Het |
Ces5a |
A |
T |
8: 94,226,059 (GRCm39) |
S559T |
unknown |
Het |
Clcf1 |
A |
G |
19: 4,272,213 (GRCm39) |
N90S |
possibly damaging |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Cobll1 |
A |
T |
2: 64,933,701 (GRCm39) |
D430E |
possibly damaging |
Het |
Cyp1a2 |
T |
A |
9: 57,589,794 (GRCm39) |
I7F |
probably benign |
Het |
Cyp2b23 |
G |
A |
7: 26,380,848 (GRCm39) |
R126* |
probably null |
Het |
Daam2 |
A |
G |
17: 49,787,782 (GRCm39) |
W444R |
possibly damaging |
Het |
Dcbld2 |
T |
A |
16: 58,275,621 (GRCm39) |
C446S |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Eif2d |
T |
C |
1: 131,086,035 (GRCm39) |
*177R |
probably null |
Het |
Fkbp15 |
G |
A |
4: 62,246,114 (GRCm39) |
A438V |
probably damaging |
Het |
Gjb5 |
G |
A |
4: 127,249,652 (GRCm39) |
A164V |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,620,233 (GRCm39) |
F337S |
probably damaging |
Het |
Hey2 |
T |
A |
10: 30,710,019 (GRCm39) |
T245S |
probably benign |
Het |
Ifi206 |
T |
C |
1: 173,308,797 (GRCm39) |
T400A |
probably benign |
Het |
Itga7 |
G |
A |
10: 128,779,902 (GRCm39) |
E480K |
probably null |
Het |
Itpr1 |
T |
C |
6: 108,470,755 (GRCm39) |
Y2227H |
possibly damaging |
Het |
Krt8 |
T |
C |
15: 101,912,337 (GRCm39) |
D113G |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lins1 |
A |
G |
7: 66,357,843 (GRCm39) |
|
probably benign |
Het |
Lmf1 |
A |
T |
17: 25,881,610 (GRCm39) |
D553V |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,786,992 (GRCm39) |
S536P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,620,716 (GRCm39) |
C3587* |
probably null |
Het |
Macf1 |
A |
T |
4: 123,290,917 (GRCm39) |
D3435E |
possibly damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Myg1 |
A |
T |
15: 102,245,397 (GRCm39) |
N206I |
probably damaging |
Het |
Myl12a |
T |
G |
17: 71,301,694 (GRCm39) |
R144S |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,055,179 (GRCm39) |
I454K |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,965,051 (GRCm39) |
D1545G |
probably benign |
Het |
Ogdhl |
T |
G |
14: 32,061,181 (GRCm39) |
D457E |
probably damaging |
Het |
Or5ac20 |
T |
A |
16: 59,104,704 (GRCm39) |
D52V |
probably damaging |
Het |
Or9s18 |
A |
C |
13: 65,300,588 (GRCm39) |
L183F |
probably damaging |
Het |
Paf1 |
A |
G |
7: 28,095,095 (GRCm39) |
I112V |
possibly damaging |
Het |
Pate7 |
T |
A |
9: 35,689,407 (GRCm39) |
|
probably null |
Het |
Pcdhga4 |
C |
T |
18: 37,819,798 (GRCm39) |
P449L |
probably damaging |
Het |
Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
Ptgs1 |
A |
G |
2: 36,127,234 (GRCm39) |
Y40C |
probably damaging |
Het |
Ptprn2 |
A |
T |
12: 117,148,267 (GRCm39) |
I676F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,700,927 (GRCm39) |
L1808P |
possibly damaging |
Het |
Sall2 |
A |
G |
14: 52,550,586 (GRCm39) |
S868P |
probably damaging |
Het |
Shoc1 |
A |
T |
4: 59,049,017 (GRCm39) |
M1116K |
probably benign |
Het |
Slc47a2 |
A |
G |
11: 61,198,412 (GRCm39) |
F428L |
probably benign |
Het |
Slco1a7 |
C |
T |
6: 141,681,826 (GRCm39) |
|
probably null |
Het |
Slco3a1 |
A |
T |
7: 73,934,363 (GRCm39) |
F603Y |
possibly damaging |
Het |
Smyd2 |
A |
T |
1: 189,642,090 (GRCm39) |
C65* |
probably null |
Het |
Ssu72 |
T |
C |
4: 155,800,007 (GRCm39) |
F57L |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,813,709 (GRCm39) |
T1718A |
probably benign |
Het |
Tnks |
G |
C |
8: 35,432,720 (GRCm39) |
P34A |
unknown |
Het |
Top3a |
G |
A |
11: 60,653,348 (GRCm39) |
T42I |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,369 (GRCm39) |
S2369P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubqln1 |
T |
C |
13: 58,330,997 (GRCm39) |
Q410R |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,207,224 (GRCm39) |
I32T |
possibly damaging |
Het |
Xcr1 |
A |
G |
9: 123,685,375 (GRCm39) |
F129S |
probably benign |
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 |
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'- AGCACATGGGGAGTTTGTCTC -3'
(R):5'- TCAAGAAGGTGATCTGTACGGG -3'
Sequencing Primer
(F):5'- GCTCCACGTCTACCTAACATCTAAAG -3'
(R):5'- ATCTGTACGGGGCCTAATGACAC -3'
|
Posted On |
2016-09-01 |