Incidental Mutation 'R3430:Grin3a'
| ID |
268052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin3a
|
| Ensembl Gene |
ENSMUSG00000039579 |
| Gene Name |
glutamate receptor ionotropic, NMDA3A |
| Synonyms |
NMDAR-L, NR3A, A830097C19Rik |
| MMRRC Submission |
040648-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3430 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
49661611-49845744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 49792534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 400
(V400L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076674]
[ENSMUST00000093859]
|
| AlphaFold |
A2AIR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076674
AA Change: V400L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: V400L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
Lig_chan-Glu_bd
|
557 |
622 |
9.62e-22 |
SMART |
|
PBPe
|
565 |
910 |
1.43e-73 |
SMART |
|
transmembrane domain
|
934 |
956 |
N/A |
INTRINSIC |
|
coiled coil region
|
1063 |
1105 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093859
AA Change: V400L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: V400L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
Lig_chan-Glu_bd
|
557 |
622 |
9.62e-22 |
SMART |
|
PBPe
|
565 |
910 |
1.43e-73 |
SMART |
|
transmembrane domain
|
934 |
956 |
N/A |
INTRINSIC |
|
coiled coil region
|
1083 |
1125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131797
|
| Meta Mutation Damage Score |
0.0861 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (67/67) |
| 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) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display increased current densities in some cerebrocortical neurons of the brain, increased levels of prepulse inhibition, and altered dendritic spine morphology. Otherwise, they display a normal phenotype. [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 |
|---|
| Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,984,322 (GRCm39) |
I1869V |
probably benign |
Het |
| Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,984,111 (GRCm39) |
L777P |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,552,322 (GRCm39) |
|
probably benign |
Het |
| Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
| Bpifa6 |
A |
G |
2: 153,831,171 (GRCm39) |
I246V |
probably benign |
Het |
| Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
| Ccdc88a |
T |
A |
11: 29,398,033 (GRCm39) |
D255E |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,844,517 (GRCm39) |
V1542A |
probably damaging |
Het |
| Cimip1 |
T |
C |
2: 173,370,066 (GRCm39) |
Y114H |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,655,078 (GRCm39) |
L1145* |
probably null |
Het |
| Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
| Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,384,745 (GRCm39) |
N94I |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
| Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
| Htr3a |
T |
C |
9: 48,818,688 (GRCm39) |
N82S |
probably benign |
Het |
| Il23r |
A |
C |
6: 67,429,458 (GRCm39) |
S295A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,838,110 (GRCm39) |
K869E |
probably benign |
Het |
| Lce1d |
A |
T |
3: 92,593,037 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
T |
C |
2: 181,339,324 (GRCm39) |
D42G |
probably benign |
Het |
| Mapk8ip2 |
A |
G |
15: 89,341,485 (GRCm39) |
E232G |
possibly damaging |
Het |
| Marf1 |
A |
G |
16: 13,958,041 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,440,492 (GRCm39) |
H650L |
probably benign |
Het |
| Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,365 (GRCm39) |
S263T |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
| Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,727,882 (GRCm39) |
F180L |
possibly damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,435 (GRCm39) |
F102I |
probably damaging |
Het |
| Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
| P2ry12 |
C |
T |
3: 59,125,448 (GRCm39) |
D76N |
probably damaging |
Het |
| Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
| Prex2 |
T |
G |
1: 11,220,078 (GRCm39) |
I683S |
possibly damaging |
Het |
| Prss34 |
A |
T |
17: 25,518,078 (GRCm39) |
K86I |
probably benign |
Het |
| Ptpn20 |
T |
A |
14: 33,336,485 (GRCm39) |
V108D |
possibly damaging |
Het |
| Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
| Rsad2 |
T |
C |
12: 26,506,418 (GRCm39) |
M1V |
probably null |
Het |
| S1pr5 |
A |
G |
9: 21,156,378 (GRCm39) |
V16A |
probably benign |
Het |
| Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
| Serpinb3b |
A |
T |
1: 107,082,425 (GRCm39) |
S280T |
probably benign |
Het |
| Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
| Sh3yl1 |
T |
C |
12: 31,009,841 (GRCm39) |
S253P |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,169,686 (GRCm39) |
I14T |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,412,816 (GRCm39) |
M559K |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,107,156 (GRCm39) |
K467E |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,847,902 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,283,437 (GRCm39) |
F706S |
probably benign |
Het |
| Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,758 (GRCm39) |
H642L |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,246,428 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Grin3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Grin3a
|
APN |
4 |
49,770,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Grin3a
|
APN |
4 |
49,792,533 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01886:Grin3a
|
APN |
4 |
49,702,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02133:Grin3a
|
APN |
4 |
49,792,946 (GRCm39) |
nonsense |
probably null |
|
|
IGL02367:Grin3a
|
APN |
4 |
49,702,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02481:Grin3a
|
APN |
4 |
49,702,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Grin3a
|
APN |
4 |
49,702,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02945:Grin3a
|
APN |
4 |
49,792,971 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03174:Grin3a
|
APN |
4 |
49,771,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Grin3a
|
UTSW |
4 |
49,665,501 (GRCm39) |
nonsense |
probably null |
|
|
R0597:Grin3a
|
UTSW |
4 |
49,665,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0849:Grin3a
|
UTSW |
4 |
49,665,501 (GRCm39) |
nonsense |
probably null |
|
|
R1448:Grin3a
|
UTSW |
4 |
49,702,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Grin3a
|
UTSW |
4 |
49,844,721 (GRCm39) |
missense |
probably benign |
|
|
R1751:Grin3a
|
UTSW |
4 |
49,844,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Grin3a
|
UTSW |
4 |
49,844,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Grin3a
|
UTSW |
4 |
49,792,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1860:Grin3a
|
UTSW |
4 |
49,665,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1924:Grin3a
|
UTSW |
4 |
49,844,988 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2035:Grin3a
|
UTSW |
4 |
49,771,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Grin3a
|
UTSW |
4 |
49,665,510 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2307:Grin3a
|
UTSW |
4 |
49,793,033 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3082:Grin3a
|
UTSW |
4 |
49,665,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3083:Grin3a
|
UTSW |
4 |
49,665,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3695:Grin3a
|
UTSW |
4 |
49,792,704 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3932:Grin3a
|
UTSW |
4 |
49,672,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4559:Grin3a
|
UTSW |
4 |
49,844,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Grin3a
|
UTSW |
4 |
49,770,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Grin3a
|
UTSW |
4 |
49,665,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5385:Grin3a
|
UTSW |
4 |
49,719,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Grin3a
|
UTSW |
4 |
49,770,376 (GRCm39) |
intron |
probably benign |
|
|
R5478:Grin3a
|
UTSW |
4 |
49,792,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5634:Grin3a
|
UTSW |
4 |
49,792,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Grin3a
|
UTSW |
4 |
49,792,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Grin3a
|
UTSW |
4 |
49,792,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Grin3a
|
UTSW |
4 |
49,792,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6451:Grin3a
|
UTSW |
4 |
49,844,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6538:Grin3a
|
UTSW |
4 |
49,770,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6629:Grin3a
|
UTSW |
4 |
49,844,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7217:Grin3a
|
UTSW |
4 |
49,770,741 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7337:Grin3a
|
UTSW |
4 |
49,702,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Grin3a
|
UTSW |
4 |
49,771,238 (GRCm39) |
missense |
probably benign |
|
|
R7477:Grin3a
|
UTSW |
4 |
49,719,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8090:Grin3a
|
UTSW |
4 |
49,714,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8313:Grin3a
|
UTSW |
4 |
49,665,599 (GRCm39) |
missense |
probably benign |
|
|
R8559:Grin3a
|
UTSW |
4 |
49,770,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Grin3a
|
UTSW |
4 |
49,771,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9662:Grin3a
|
UTSW |
4 |
49,792,432 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9736:Grin3a
|
UTSW |
4 |
49,672,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9760:Grin3a
|
UTSW |
4 |
49,714,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Grin3a
|
UTSW |
4 |
49,770,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCCAAACTTTATCAGGAC -3'
(R):5'- GTTTGGGCTATCACCTCCTG -3'
Sequencing Primer
(F):5'- CAAGATTTCTGCACAGTGGC -3'
(R):5'- GATCTTCACTGGGTTTTAGGAGACTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation