Incidental Mutation 'PIT4494001:Grin2a'
| ID |
556165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin2a
|
| Ensembl Gene |
ENSMUSG00000059003 |
| Gene Name |
glutamate receptor, ionotropic, NMDA2A (epsilon 1) |
| Synonyms |
GluN2A, GluRepsilon1, NR2A, NMDAR2A |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
204.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
9385762-9813424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9402960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 842
(Y842C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032331]
[ENSMUST00000115835]
[ENSMUST00000199708]
|
| AlphaFold |
P35436 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032331
AA Change: Y842C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032331
Gene: ENSMUSG00000059003
AA Change: Y842C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
106 |
301 |
1.6e-10 |
PFAM |
|
PBPe
|
431 |
798 |
1.68e-70 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
502 |
2.24e-22 |
SMART |
|
transmembrane domain
|
818 |
837 |
N/A |
INTRINSIC |
|
Pfam:NMDAR2_C
|
839 |
1464 |
2.1e-230 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115835
AA Change: Y842C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111501
Gene: ENSMUSG00000059003
AA Change: Y842C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
99 |
300 |
9.2e-11 |
PFAM |
|
PBPe
|
431 |
798 |
1.68e-70 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
502 |
2.24e-22 |
SMART |
|
transmembrane domain
|
818 |
837 |
N/A |
INTRINSIC |
|
Pfam:NMDAR2_C
|
839 |
1464 |
1.2e-266 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199708
AA Change: Y842C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142900
Gene: ENSMUSG00000059003
AA Change: Y842C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
106 |
301 |
1.6e-10 |
PFAM |
|
PBPe
|
431 |
798 |
1.68e-70 |
SMART |
|
Lig_chan-Glu_bd
|
439 |
502 |
2.24e-22 |
SMART |
|
transmembrane domain
|
818 |
837 |
N/A |
INTRINSIC |
|
Pfam:NMDAR2_C
|
839 |
1464 |
2.1e-230 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit jumpiness, mildly impaired long-term potentiation and spatial learning, increased locomotor activity and metabolism of dopamine and serotonin, and loss of analgesic tolerance after repeated morphine doses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
probably damaging |
Het |
|
| Other mutations in Grin2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01777:Grin2a
|
APN |
16 |
9,461,994 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL03288:Grin2a
|
APN |
16 |
9,487,704 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02796:Grin2a
|
UTSW |
16 |
9,402,972 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
PIT4402001:Grin2a
|
UTSW |
16 |
9,462,063 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0055:Grin2a
|
UTSW |
16 |
9,487,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0055:Grin2a
|
UTSW |
16 |
9,487,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0164:Grin2a
|
UTSW |
16 |
9,812,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0164:Grin2a
|
UTSW |
16 |
9,812,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0211:Grin2a
|
UTSW |
16 |
9,397,037 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0390:Grin2a
|
UTSW |
16 |
9,397,449 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0659:Grin2a
|
UTSW |
16 |
9,810,336 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0661:Grin2a
|
UTSW |
16 |
9,810,336 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0734:Grin2a
|
UTSW |
16 |
9,397,475 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1524:Grin2a
|
UTSW |
16 |
9,481,467 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1542:Grin2a
|
UTSW |
16 |
9,397,067 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1556:Grin2a
|
UTSW |
16 |
9,525,579 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1605:Grin2a
|
UTSW |
16 |
9,481,194 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1792:Grin2a
|
UTSW |
16 |
9,810,259 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2024:Grin2a
|
UTSW |
16 |
9,462,107 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2057:Grin2a
|
UTSW |
16 |
9,487,608 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2344:Grin2a
|
UTSW |
16 |
9,481,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2847:Grin2a
|
UTSW |
16 |
9,579,829 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2848:Grin2a
|
UTSW |
16 |
9,579,829 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2981:Grin2a
|
UTSW |
16 |
9,462,087 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4197:Grin2a
|
UTSW |
16 |
9,579,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Grin2a
|
UTSW |
16 |
9,471,453 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4741:Grin2a
|
UTSW |
16 |
9,481,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4891:Grin2a
|
UTSW |
16 |
9,475,570 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4925:Grin2a
|
UTSW |
16 |
9,487,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5563:Grin2a
|
UTSW |
16 |
9,525,581 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5645:Grin2a
|
UTSW |
16 |
9,810,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5769:Grin2a
|
UTSW |
16 |
9,579,390 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5885:Grin2a
|
UTSW |
16 |
9,579,769 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6065:Grin2a
|
UTSW |
16 |
9,579,771 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6083:Grin2a
|
UTSW |
16 |
9,397,404 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6137:Grin2a
|
UTSW |
16 |
9,471,313 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6286:Grin2a
|
UTSW |
16 |
9,579,639 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6342:Grin2a
|
UTSW |
16 |
9,397,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6697:Grin2a
|
UTSW |
16 |
9,487,704 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6924:Grin2a
|
UTSW |
16 |
9,481,092 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7070:Grin2a
|
UTSW |
16 |
9,397,288 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7235:Grin2a
|
UTSW |
16 |
9,397,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7274:Grin2a
|
UTSW |
16 |
9,396,986 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7669:Grin2a
|
UTSW |
16 |
9,810,327 (GRCm39) |
missense |
probably benign |
|
|
R7990:Grin2a
|
UTSW |
16 |
9,397,040 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8261:Grin2a
|
UTSW |
16 |
9,481,382 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8503:Grin2a
|
UTSW |
16 |
9,481,413 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8679:Grin2a
|
UTSW |
16 |
9,403,089 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8700:Grin2a
|
UTSW |
16 |
9,397,412 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8823:Grin2a
|
UTSW |
16 |
9,487,758 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9122:Grin2a
|
UTSW |
16 |
9,397,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9656:Grin2a
|
UTSW |
16 |
9,397,471 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9674:Grin2a
|
UTSW |
16 |
9,471,265 (GRCm39) |
nonsense |
probably null |
|
|
R9786:Grin2a
|
UTSW |
16 |
9,471,466 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
X0024:Grin2a
|
UTSW |
16 |
9,481,063 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1177:Grin2a
|
UTSW |
16 |
9,481,441 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTCATCAAAATGCCCATG -3'
(R):5'- CAGTTAAGTCTTTCTGCTGCAGC -3'
Sequencing Primer
(F):5'- AAAATGCCCATGTGCCTGATTC -3'
(R):5'- AGTGTCTTCACCAAGGCATG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation