Incidental Mutation 'R8939:Grid1'
| ID |
680868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid1
|
| Ensembl Gene |
ENSMUSG00000041078 |
| Gene Name |
glutamate receptor, ionotropic, delta 1 |
| Synonyms |
GluRdelta1 |
| MMRRC Submission |
068712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34542065-35305336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35043664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 340
(D340N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043349]
|
| AlphaFold |
Q61627 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043349
AA Change: D340N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: D340N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
36 |
400 |
4.1e-51 |
PFAM |
|
PBPe
|
438 |
807 |
4.68e-110 |
SMART |
|
Lig_chan-Glu_bd
|
448 |
510 |
8.18e-25 |
SMART |
|
low complexity region
|
838 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
958 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
G |
14: 64,225,162 (GRCm39) |
V12A |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,243,947 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,624,977 (GRCm39) |
T473A |
probably damaging |
Het |
| Acsm1 |
A |
T |
7: 119,239,868 (GRCm39) |
T271S |
probably benign |
Het |
| Adh6b |
T |
C |
3: 138,055,397 (GRCm39) |
I49T |
probably benign |
Het |
| Aff4 |
A |
T |
11: 53,263,231 (GRCm39) |
T84S |
probably benign |
Het |
| Angptl7 |
G |
A |
4: 148,580,956 (GRCm39) |
R280* |
probably null |
Het |
| Bhlhe23 |
T |
A |
2: 180,418,099 (GRCm39) |
K146N |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,014,544 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
C |
G |
1: 172,372,834 (GRCm39) |
R510G |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,642,868 (GRCm39) |
Y202C |
probably damaging |
Het |
| Chrna6 |
T |
A |
8: 27,896,870 (GRCm39) |
T336S |
probably benign |
Het |
| Clpx |
A |
G |
9: 65,231,519 (GRCm39) |
K535E |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,376,512 (GRCm39) |
M1581V |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,758,823 (GRCm39) |
I246K |
probably benign |
Het |
| F7 |
G |
T |
8: 13,078,724 (GRCm39) |
G52C |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,177,223 (GRCm39) |
Q701R |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,456 (GRCm39) |
M605L |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,883 (GRCm39) |
F293S |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,618,170 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,873,203 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,299 (GRCm39) |
W231R |
probably damaging |
Het |
| Igflr1 |
CAGAG |
CAG |
7: 30,266,888 (GRCm39) |
|
probably null |
Het |
| Ighv1-80 |
C |
T |
12: 115,876,113 (GRCm39) |
G68R |
probably damaging |
Het |
| Il10ra |
A |
G |
9: 45,177,802 (GRCm39) |
V69A |
unknown |
Het |
| Klhdc1 |
C |
T |
12: 69,300,537 (GRCm39) |
A159V |
probably damaging |
Het |
| Krtap4-6 |
A |
G |
11: 99,556,229 (GRCm39) |
I166T |
unknown |
Het |
| Lce1h |
A |
T |
3: 92,670,976 (GRCm39) |
C59S |
unknown |
Het |
| Magi3 |
T |
C |
3: 103,996,748 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
G |
T |
13: 111,892,837 (GRCm39) |
S806* |
probably null |
Het |
| Map3k6 |
T |
A |
4: 132,979,954 (GRCm39) |
|
probably benign |
Het |
| Mgam |
G |
A |
6: 40,740,137 (GRCm39) |
|
probably null |
Het |
| Mtx1 |
A |
G |
3: 89,120,033 (GRCm39) |
V207A |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,347,091 (GRCm39) |
N356Y |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,524,679 (GRCm39) |
F810S |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,166,761 (GRCm39) |
L774P |
probably damaging |
Het |
| Nr1i2 |
C |
T |
16: 38,086,382 (GRCm39) |
V28I |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,488,589 (GRCm39) |
K297R |
probably damaging |
Het |
| Or5b122 |
A |
C |
19: 13,562,860 (GRCm39) |
N64T |
probably damaging |
Het |
| Pcmtd2 |
T |
C |
2: 181,496,863 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,730,347 (GRCm39) |
L102P |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,571,319 (GRCm39) |
E114G |
possibly damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,110,926 (GRCm39) |
V70A |
probably damaging |
Het |
| Psd2 |
G |
A |
18: 36,121,292 (GRCm39) |
V421M |
probably damaging |
Het |
| Qng1 |
C |
T |
13: 58,532,875 (GRCm39) |
A32T |
probably damaging |
Het |
| Rbak |
C |
T |
5: 143,160,025 (GRCm39) |
E343K |
possibly damaging |
Het |
| Rhbdf1 |
G |
A |
11: 32,160,093 (GRCm39) |
A136V |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,995,337 (GRCm39) |
E231D |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,552,231 (GRCm39) |
E690G |
probably damaging |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,776 (GRCm39) |
E88G |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,411,137 (GRCm39) |
|
probably null |
Het |
| Sgcb |
A |
T |
5: 73,801,661 (GRCm39) |
I68N |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,364,433 (GRCm39) |
|
probably benign |
Het |
| Slc25a48 |
C |
T |
13: 56,611,519 (GRCm39) |
P209S |
probably damaging |
Het |
| Slc9a3 |
C |
A |
13: 74,311,895 (GRCm39) |
H614Q |
possibly damaging |
Het |
| Slurp1 |
G |
A |
15: 74,598,763 (GRCm39) |
S76L |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,202,969 (GRCm39) |
E1886G |
possibly damaging |
Het |
| Sqor |
C |
T |
2: 122,649,549 (GRCm39) |
P151S |
possibly damaging |
Het |
| Sstr4 |
C |
A |
2: 148,238,228 (GRCm39) |
L280M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,847 (GRCm39) |
Y117C |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 150,968,574 (GRCm39) |
|
probably null |
Het |
| Stim2 |
G |
T |
5: 54,262,673 (GRCm39) |
R305L |
possibly damaging |
Het |
| Syt14 |
G |
A |
1: 192,612,896 (GRCm39) |
R635C |
probably damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,381,483 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,575,695 (GRCm39) |
N23320S |
possibly damaging |
Het |
| Ubqln4 |
A |
G |
3: 88,473,023 (GRCm39) |
T493A |
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,039,158 (GRCm39) |
L501P |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,068,700 (GRCm39) |
I449V |
probably damaging |
Het |
| Vmn2r51 |
C |
A |
7: 9,833,953 (GRCm39) |
D362Y |
possibly damaging |
Het |
| Xirp2 |
A |
C |
2: 67,346,488 (GRCm39) |
T2910P |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,498,315 (GRCm39) |
S28P |
probably benign |
Het |
|
| Other mutations in Grid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00705:Grid1
|
APN |
14 |
35,167,844 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01016:Grid1
|
APN |
14 |
34,544,596 (GRCm39) |
nonsense |
probably null |
|
|
IGL01643:Grid1
|
APN |
14 |
35,045,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01697:Grid1
|
APN |
14 |
35,031,214 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01879:Grid1
|
APN |
14 |
35,172,327 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01975:Grid1
|
APN |
14 |
35,045,383 (GRCm39) |
missense |
probably benign |
|
|
IGL02515:Grid1
|
APN |
14 |
35,174,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02935:Grid1
|
APN |
14 |
34,544,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03279:Grid1
|
APN |
14 |
34,667,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03286:Grid1
|
APN |
14 |
35,242,642 (GRCm39) |
splice site |
probably benign |
|
|
IGL03296:Grid1
|
APN |
14 |
35,302,524 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03305:Grid1
|
APN |
14 |
34,973,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Grid1
|
UTSW |
14 |
35,031,342 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0746:Grid1
|
UTSW |
14 |
34,544,647 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0811:Grid1
|
UTSW |
14 |
34,544,576 (GRCm39) |
missense |
probably benign |
|
|
R0812:Grid1
|
UTSW |
14 |
34,544,576 (GRCm39) |
missense |
probably benign |
|
|
R1144:Grid1
|
UTSW |
14 |
35,284,633 (GRCm39) |
splice site |
probably benign |
|
|
R1217:Grid1
|
UTSW |
14 |
34,542,186 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R1485:Grid1
|
UTSW |
14 |
34,544,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Grid1
|
UTSW |
14 |
35,031,250 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1606:Grid1
|
UTSW |
14 |
35,167,922 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1691:Grid1
|
UTSW |
14 |
35,174,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Grid1
|
UTSW |
14 |
35,167,988 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2374:Grid1
|
UTSW |
14 |
35,043,764 (GRCm39) |
splice site |
probably benign |
|
|
R2415:Grid1
|
UTSW |
14 |
35,172,326 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2866:Grid1
|
UTSW |
14 |
35,284,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:Grid1
|
UTSW |
14 |
35,242,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4044:Grid1
|
UTSW |
14 |
35,172,358 (GRCm39) |
splice site |
probably benign |
|
|
R4364:Grid1
|
UTSW |
14 |
34,667,989 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4691:Grid1
|
UTSW |
14 |
35,291,514 (GRCm39) |
missense |
probably benign |
|
|
R4694:Grid1
|
UTSW |
14 |
34,748,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Grid1
|
UTSW |
14 |
35,302,644 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4794:Grid1
|
UTSW |
14 |
34,544,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4854:Grid1
|
UTSW |
14 |
35,043,598 (GRCm39) |
missense |
probably benign |
|
|
R5555:Grid1
|
UTSW |
14 |
35,242,662 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6005:Grid1
|
UTSW |
14 |
35,045,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Grid1
|
UTSW |
14 |
35,284,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6569:Grid1
|
UTSW |
14 |
35,045,296 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6911:Grid1
|
UTSW |
14 |
34,542,185 (GRCm39) |
start codon destroyed |
probably benign |
0.08 |
|
R7504:Grid1
|
UTSW |
14 |
35,284,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Grid1
|
UTSW |
14 |
35,172,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Grid1
|
UTSW |
14 |
35,043,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Grid1
|
UTSW |
14 |
35,172,259 (GRCm39) |
splice site |
probably null |
|
|
R7913:Grid1
|
UTSW |
14 |
35,291,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8032:Grid1
|
UTSW |
14 |
35,045,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8333:Grid1
|
UTSW |
14 |
35,291,595 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8916:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Grid1
|
UTSW |
14 |
35,302,723 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8934:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8986:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Grid1
|
UTSW |
14 |
34,748,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9238:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Grid1
|
UTSW |
14 |
34,748,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Grid1
|
UTSW |
14 |
35,045,360 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9335:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9478:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Grid1
|
UTSW |
14 |
35,043,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Grid1
|
UTSW |
14 |
35,291,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9583:Grid1
|
UTSW |
14 |
35,302,492 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9601:Grid1
|
UTSW |
14 |
35,167,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9734:Grid1
|
UTSW |
14 |
35,302,742 (GRCm39) |
missense |
probably benign |
|
|
U24488:Grid1
|
UTSW |
14 |
35,302,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Grid1
|
UTSW |
14 |
35,174,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGATGAGCTGCTGAAAAC -3'
(R):5'- TTGTACCAACTAAGTGGGAGTGC -3'
Sequencing Primer
(F):5'- CTCACAGGACCAGGAAGATACTGTTG -3'
(R):5'- CAATAATGAGGGCCTTGTCTCCAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation