Incidental Mutation 'R3958:Grin1'
| ID |
310791 |
| 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 |
040834-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25181193-25209199 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25203465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 182
(T182M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109949
(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: T182M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: T182M
| 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 |
possibly damaging
Transcript: ENSMUST00000114307
AA Change: T182M
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: T182M
| 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 |
possibly damaging
Transcript: ENSMUST00000114308
AA Change: T182M
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: T182M
| 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: T182M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: T182M
| 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: T182M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: T182M
| 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: T182M
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: T182M
| 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: T182M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: T182M
| 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 |
possibly damaging
Transcript: ENSMUST00000114318
AA Change: T182M
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: T182M
| 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
|
| Meta Mutation Damage Score |
0.4983 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
G |
17: 33,652,738 (GRCm39) |
K266R |
probably benign |
Het |
| Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,364,028 (GRCm39) |
R345H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Glyat |
A |
T |
19: 12,617,197 (GRCm39) |
K16N |
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
| Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,276,804 (GRCm39) |
V119A |
probably benign |
Het |
| Or4k41 |
G |
T |
2: 111,280,230 (GRCm39) |
L248F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
| Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Selp |
T |
C |
1: 163,953,855 (GRCm39) |
S52P |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
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 |
|
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'- TTCGACTAATGGCAAAAGCAAGTG -3'
(R):5'- AAGCAGACTTAGCCTGGTCC -3'
Sequencing Primer
(F):5'- CTAATGGCAAAAGCAAGTGAAATG -3'
(R):5'- TAGCCTGGTCCTGCCTCAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation