Incidental Mutation 'R6461:Grin2c'
| ID |
517609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin2c
|
| Ensembl Gene |
ENSMUSG00000020734 |
| Gene Name |
glutamate receptor, ionotropic, NMDA2C (epsilon 3) |
| Synonyms |
NR2C, NMDAR2C, GluRepsilon3 |
| MMRRC Submission |
044390-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R6461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115139995-115158069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115146522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 494
(M494K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003351]
[ENSMUST00000106554]
|
| AlphaFold |
Q01098 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003351
AA Change: M494K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734
AA Change: M494K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
99 |
299 |
5.1e-12 |
PFAM |
|
PBPe
|
440 |
796 |
1.11e-79 |
SMART |
|
Lig_chan-Glu_bd
|
448 |
500 |
2.79e-18 |
SMART |
|
transmembrane domain
|
816 |
835 |
N/A |
INTRINSIC |
|
Pfam:NMDAR2_C
|
837 |
924 |
6.8e-15 |
PFAM |
|
low complexity region
|
941 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1182 |
N/A |
INTRINSIC |
|
low complexity region
|
1194 |
1203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106554
AA Change: M494K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734
AA Change: M494K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
100 |
306 |
6.9e-10 |
PFAM |
|
PBPe
|
440 |
796 |
1.11e-79 |
SMART |
|
Lig_chan-Glu_bd
|
448 |
500 |
2.79e-18 |
SMART |
|
transmembrane domain
|
816 |
835 |
N/A |
INTRINSIC |
|
Pfam:NMDAR2_C
|
837 |
926 |
1.1e-13 |
PFAM |
|
low complexity region
|
941 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1173 |
1182 |
N/A |
INTRINSIC |
|
low complexity region
|
1194 |
1203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158919
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
A |
10: 85,476,428 (GRCm39) |
I903N |
probably damaging |
Het |
| Atp12a |
C |
T |
14: 56,610,695 (GRCm39) |
R280C |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,855,964 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,390 (GRCm39) |
E240G |
probably benign |
Het |
| Gne |
T |
C |
4: 44,060,078 (GRCm39) |
D105G |
probably damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,541,008 (GRCm39) |
|
probably null |
Het |
| Irf6 |
G |
C |
1: 192,849,779 (GRCm39) |
G234R |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,494,728 (GRCm39) |
F347L |
probably damaging |
Het |
| Mcfd2 |
G |
A |
17: 87,565,494 (GRCm39) |
T3I |
probably benign |
Het |
| Mon1b |
A |
G |
8: 114,365,170 (GRCm39) |
D166G |
probably damaging |
Het |
| Mup10 |
T |
A |
4: 60,538,078 (GRCm39) |
M4L |
unknown |
Het |
| Or13c7b |
T |
C |
4: 43,821,355 (GRCm39) |
E2G |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,362 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or51s1 |
T |
A |
7: 102,558,235 (GRCm39) |
R270S |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,587 (GRCm39) |
|
probably null |
Het |
| Pelp1 |
A |
T |
11: 70,287,132 (GRCm39) |
V522E |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,156,466 (GRCm39) |
D481G |
probably null |
Het |
| Scube1 |
G |
A |
15: 83,496,628 (GRCm39) |
T791I |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,604,373 (GRCm39) |
I748V |
possibly damaging |
Het |
| Slc29a2 |
A |
G |
19: 5,077,768 (GRCm39) |
T236A |
probably benign |
Het |
| Smarca4 |
T |
A |
9: 21,590,316 (GRCm39) |
I1152N |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,183,822 (GRCm39) |
I1026V |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,890,872 (GRCm39) |
R405L |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,827,234 (GRCm39) |
R900H |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,606,344 (GRCm39) |
K1639R |
probably damaging |
Het |
|
| Other mutations in Grin2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Grin2c
|
APN |
11 |
115,148,936 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01306:Grin2c
|
APN |
11 |
115,147,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01408:Grin2c
|
APN |
11 |
115,151,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01539:Grin2c
|
APN |
11 |
115,140,932 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01931:Grin2c
|
APN |
11 |
115,144,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01964:Grin2c
|
APN |
11 |
115,144,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Grin2c
|
APN |
11 |
115,141,543 (GRCm39) |
splice site |
probably benign |
|
|
IGL02956:Grin2c
|
APN |
11 |
115,148,785 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03221:Grin2c
|
APN |
11 |
115,144,870 (GRCm39) |
splice site |
probably benign |
|
|
ANU23:Grin2c
|
UTSW |
11 |
115,147,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB007:Grin2c
|
UTSW |
11 |
115,147,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB017:Grin2c
|
UTSW |
11 |
115,147,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4362001:Grin2c
|
UTSW |
11 |
115,140,459 (GRCm39) |
missense |
probably benign |
|
|
R0011:Grin2c
|
UTSW |
11 |
115,146,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Grin2c
|
UTSW |
11 |
115,146,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Grin2c
|
UTSW |
11 |
115,141,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Grin2c
|
UTSW |
11 |
115,151,554 (GRCm39) |
splice site |
probably benign |
|
|
R0681:Grin2c
|
UTSW |
11 |
115,140,479 (GRCm39) |
missense |
probably benign |
|
|
R0791:Grin2c
|
UTSW |
11 |
115,141,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Grin2c
|
UTSW |
11 |
115,141,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Grin2c
|
UTSW |
11 |
115,144,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Grin2c
|
UTSW |
11 |
115,146,900 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1654:Grin2c
|
UTSW |
11 |
115,151,679 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1803:Grin2c
|
UTSW |
11 |
115,151,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1982:Grin2c
|
UTSW |
11 |
115,151,731 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2050:Grin2c
|
UTSW |
11 |
115,148,245 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2196:Grin2c
|
UTSW |
11 |
115,141,492 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2442:Grin2c
|
UTSW |
11 |
115,141,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Grin2c
|
UTSW |
11 |
115,141,894 (GRCm39) |
nonsense |
probably null |
|
|
R3440:Grin2c
|
UTSW |
11 |
115,141,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Grin2c
|
UTSW |
11 |
115,151,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Grin2c
|
UTSW |
11 |
115,143,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Grin2c
|
UTSW |
11 |
115,140,422 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4856:Grin2c
|
UTSW |
11 |
115,151,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Grin2c
|
UTSW |
11 |
115,151,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5277:Grin2c
|
UTSW |
11 |
115,144,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Grin2c
|
UTSW |
11 |
115,146,881 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5553:Grin2c
|
UTSW |
11 |
115,143,551 (GRCm39) |
missense |
probably null |
0.96 |
|
R5711:Grin2c
|
UTSW |
11 |
115,141,115 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5784:Grin2c
|
UTSW |
11 |
115,149,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5849:Grin2c
|
UTSW |
11 |
115,151,817 (GRCm39) |
missense |
probably benign |
|
|
R6421:Grin2c
|
UTSW |
11 |
115,141,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Grin2c
|
UTSW |
11 |
115,149,108 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7205:Grin2c
|
UTSW |
11 |
115,141,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7611:Grin2c
|
UTSW |
11 |
115,143,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Grin2c
|
UTSW |
11 |
115,147,085 (GRCm39) |
splice site |
probably null |
|
|
R7751:Grin2c
|
UTSW |
11 |
115,144,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Grin2c
|
UTSW |
11 |
115,151,804 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7920:Grin2c
|
UTSW |
11 |
115,144,970 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7930:Grin2c
|
UTSW |
11 |
115,147,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7940:Grin2c
|
UTSW |
11 |
115,146,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7956:Grin2c
|
UTSW |
11 |
115,140,974 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8081:Grin2c
|
UTSW |
11 |
115,140,719 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8249:Grin2c
|
UTSW |
11 |
115,144,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8447:Grin2c
|
UTSW |
11 |
115,148,215 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9034:Grin2c
|
UTSW |
11 |
115,142,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9409:Grin2c
|
UTSW |
11 |
115,144,106 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9432:Grin2c
|
UTSW |
11 |
115,142,052 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGGAATCGGCTACTCC -3'
(R):5'- TTCATATGCCAGGCTGGGAG -3'
Sequencing Primer
(F):5'- GGAATCGGCTACTCCCTCCC -3'
(R):5'- GACTTTGAAGGGCTCTGACTCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation