Incidental Mutation 'IGL01627:Grin1'
ID |
92803 |
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 # |
IGL01627
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25208709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 64
(S64P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028335]
[ENSMUST00000114307]
[ENSMUST00000114308]
[ENSMUST00000114310]
[ENSMUST00000114312]
[ENSMUST00000114314]
[ENSMUST00000114318]
[ENSMUST00000114317]
|
AlphaFold |
P35438 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028335
AA Change: S64P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028335 Gene: ENSMUSG00000026959 AA Change: S64P
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: S64P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109946 Gene: ENSMUSG00000026959 AA Change: S64P
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: S64P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109947 Gene: ENSMUSG00000026959 AA Change: S64P
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: S64P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109949 Gene: ENSMUSG00000026959 AA Change: S64P
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: S64P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109951 Gene: ENSMUSG00000026959 AA Change: S64P
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: S64P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109953 Gene: ENSMUSG00000026959 AA Change: S64P
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: ENSMUST00000114318
AA Change: S64P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109957 Gene: ENSMUSG00000026959 AA Change: S64P
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 |
probably damaging
Transcript: ENSMUST00000114317
AA Change: S64P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109956 Gene: ENSMUSG00000026959 AA Change: S64P
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: ENSMUST00000155627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144402
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Casp9 |
T |
C |
4: 141,532,853 (GRCm39) |
|
probably benign |
Het |
Ccdc186 |
G |
A |
19: 56,780,452 (GRCm39) |
T864I |
probably damaging |
Het |
Cgas |
A |
T |
9: 78,349,996 (GRCm39) |
V57E |
possibly damaging |
Het |
Chek1 |
T |
A |
9: 36,635,191 (GRCm39) |
H64L |
probably damaging |
Het |
Chsy3 |
T |
C |
18: 59,309,367 (GRCm39) |
S207P |
probably damaging |
Het |
Clec4n |
A |
G |
6: 123,221,433 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
G |
A |
1: 24,218,689 (GRCm39) |
|
probably null |
Het |
Dgkd |
A |
G |
1: 87,808,150 (GRCm39) |
R73G |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,682,915 (GRCm39) |
T562S |
probably benign |
Het |
Epb42 |
T |
C |
2: 120,856,324 (GRCm39) |
T407A |
probably benign |
Het |
Eps8l3 |
A |
G |
3: 107,788,487 (GRCm39) |
D58G |
probably damaging |
Het |
Fuca1 |
A |
T |
4: 135,652,862 (GRCm39) |
N162I |
possibly damaging |
Het |
Gramd1a |
T |
C |
7: 30,839,221 (GRCm39) |
D229G |
probably damaging |
Het |
Hgd |
T |
G |
16: 37,442,287 (GRCm39) |
V243G |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,400,412 (GRCm39) |
N639K |
probably benign |
Het |
Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
Mycbpap |
T |
C |
11: 94,405,430 (GRCm39) |
E33G |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,199,111 (GRCm39) |
G148D |
probably damaging |
Het |
Ntan1 |
C |
T |
16: 13,652,603 (GRCm39) |
T233M |
probably benign |
Het |
Or6c5 |
A |
T |
10: 129,074,138 (GRCm39) |
N40I |
probably damaging |
Het |
Plscr1l1 |
A |
T |
9: 92,229,864 (GRCm39) |
I23F |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,708,002 (GRCm39) |
|
probably benign |
Het |
Rims4 |
T |
C |
2: 163,706,022 (GRCm39) |
Y204C |
probably damaging |
Het |
Selp |
A |
G |
1: 163,971,461 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
G |
16: 55,992,219 (GRCm39) |
E725G |
probably damaging |
Het |
Snx31 |
A |
T |
15: 36,517,818 (GRCm39) |
F366Y |
probably damaging |
Het |
Spats2l |
A |
G |
1: 57,941,241 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
T |
C |
14: 55,888,010 (GRCm39) |
F69L |
probably damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,335,806 (GRCm39) |
L9P |
probably damaging |
Het |
Vmn2r76 |
A |
T |
7: 85,874,871 (GRCm39) |
I702N |
probably damaging |
Het |
Vps18 |
C |
A |
2: 119,127,672 (GRCm39) |
R832S |
probably benign |
Het |
Xpo6 |
A |
G |
7: 125,748,506 (GRCm39) |
L375P |
probably damaging |
Het |
Zfp462 |
C |
A |
4: 55,008,912 (GRCm39) |
P293T |
possibly damaging |
Het |
Zyg11b |
T |
C |
4: 108,107,985 (GRCm39) |
I474V |
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 |
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 |
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 |
2013-12-09 |