Incidental Mutation 'R3547:Grid2'
| ID |
268248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grid2
|
| Ensembl Gene |
ENSMUSG00000071424 |
| Gene Name |
glutamate receptor, ionotropic, delta 2 |
| Synonyms |
tpr, B230104L07Rik, GluRdelta2 |
| MMRRC Submission |
040666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
63232860-64681307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64297005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 456
(V456A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095852]
|
| AlphaFold |
Q61625 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095852
AA Change: V456A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093536
Gene: ENSMUSG00000071424
AA Change: V456A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
39 |
404 |
4.1e-41 |
PFAM |
|
PBPe
|
442 |
807 |
5.98e-108 |
SMART |
|
Lig_chan-Glu_bd
|
452 |
514 |
3.76e-24 |
SMART |
|
transmembrane domain
|
830 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
956 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2611 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (62/63) |
| 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 member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygotes for multiple spontaneous and targeted null mutations exhibit ataxia and impaired locomotion associated with cerebellar Purkinje cell abnormalities and loss, and on some backgrounds, male infertility due to lack of zona penetration by sperm. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg5 |
A |
G |
3: 54,656,736 (GRCm39) |
R316G |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,484,602 (GRCm39) |
N1121D |
possibly damaging |
Het |
| Antxr2 |
A |
T |
5: 98,125,516 (GRCm39) |
I247N |
probably benign |
Het |
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,158,326 (GRCm39) |
D136G |
probably benign |
Het |
| Atxn1l |
A |
G |
8: 110,458,981 (GRCm39) |
L427P |
possibly damaging |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Clec4a3 |
A |
G |
6: 122,941,239 (GRCm39) |
E78G |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Col12a1 |
T |
G |
9: 79,540,698 (GRCm39) |
K2429T |
probably damaging |
Het |
| Col20a1 |
G |
T |
2: 180,636,704 (GRCm39) |
E228D |
probably damaging |
Het |
| Cx3cl1 |
A |
C |
8: 95,504,752 (GRCm39) |
E56A |
possibly damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Gstcd |
G |
T |
3: 132,790,599 (GRCm39) |
T56K |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,308,699 (GRCm39) |
G3995D |
possibly damaging |
Het |
| Igkv4-50 |
G |
A |
6: 69,677,765 (GRCm39) |
T113I |
probably benign |
Het |
| Igkv5-43 |
A |
G |
6: 69,753,240 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,237,962 (GRCm39) |
H740Y |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 122,999,702 (GRCm39) |
E94G |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Ly6m |
C |
A |
15: 74,753,463 (GRCm39) |
A18S |
probably null |
Het |
| Map3k3 |
C |
T |
11: 106,033,379 (GRCm39) |
Q211* |
probably null |
Het |
| Map4 |
T |
A |
9: 109,881,266 (GRCm39) |
F43L |
possibly damaging |
Het |
| Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,700,538 (GRCm39) |
V460I |
possibly damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or52b3 |
A |
G |
7: 102,203,677 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pi4k2a |
C |
T |
19: 42,078,987 (GRCm39) |
P16L |
probably benign |
Het |
| Pitx3 |
T |
A |
19: 46,124,548 (GRCm39) |
Q273L |
possibly damaging |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,388,118 (GRCm39) |
Y428C |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,101,712 (GRCm39) |
S2405R |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rnf167 |
T |
C |
11: 70,540,507 (GRCm39) |
I129T |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfxn2 |
T |
C |
19: 46,578,635 (GRCm39) |
S217P |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Slc22a17 |
A |
G |
14: 55,144,694 (GRCm39) |
L573P |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,574 (GRCm39) |
Y181H |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,489,567 (GRCm39) |
S159P |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,573 (GRCm39) |
D1045G |
probably damaging |
Het |
| Ugt8a |
A |
T |
3: 125,661,031 (GRCm39) |
L487* |
probably null |
Het |
| Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Uty |
A |
C |
Y: 1,158,512 (GRCm39) |
D463E |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly damaging |
Het |
| Vps13d |
T |
G |
4: 144,801,545 (GRCm39) |
T3558P |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,055,445 (GRCm39) |
S253P |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,499,476 (GRCm39) |
S1265G |
probably benign |
Het |
|
| Other mutations in Grid2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Grid2
|
APN |
6 |
64,322,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00596:Grid2
|
APN |
6 |
64,510,688 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01686:Grid2
|
APN |
6 |
64,297,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01712:Grid2
|
APN |
6 |
64,642,899 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02064:Grid2
|
APN |
6 |
64,040,919 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02216:Grid2
|
APN |
6 |
64,322,650 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02563:Grid2
|
APN |
6 |
64,322,857 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02685:Grid2
|
APN |
6 |
64,322,800 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03129:Grid2
|
APN |
6 |
64,040,888 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03324:Grid2
|
APN |
6 |
64,406,806 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03395:Grid2
|
APN |
6 |
63,886,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
crawler
|
UTSW |
6 |
64,406,678 (GRCm39) |
nonsense |
probably null |
|
|
swagger
|
UTSW |
6 |
64,372,263 (GRCm39) |
synonymous |
probably benign |
|
|
R0133:Grid2
|
UTSW |
6 |
64,297,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Grid2
|
UTSW |
6 |
64,510,571 (GRCm39) |
missense |
probably benign |
|
|
R0193:Grid2
|
UTSW |
6 |
64,040,937 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0370:Grid2
|
UTSW |
6 |
64,322,718 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0399:Grid2
|
UTSW |
6 |
64,643,036 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0600:Grid2
|
UTSW |
6 |
63,480,419 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0717:Grid2
|
UTSW |
6 |
64,643,259 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1524:Grid2
|
UTSW |
6 |
64,406,738 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1555:Grid2
|
UTSW |
6 |
64,406,668 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1572:Grid2
|
UTSW |
6 |
64,406,678 (GRCm39) |
nonsense |
probably null |
|
|
R1762:Grid2
|
UTSW |
6 |
64,510,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1944:Grid2
|
UTSW |
6 |
63,886,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Grid2
|
UTSW |
6 |
63,885,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Grid2
|
UTSW |
6 |
63,885,902 (GRCm39) |
nonsense |
probably null |
|
|
R2138:Grid2
|
UTSW |
6 |
64,322,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3500:Grid2
|
UTSW |
6 |
63,480,383 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3845:Grid2
|
UTSW |
6 |
64,322,826 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4124:Grid2
|
UTSW |
6 |
63,480,417 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4273:Grid2
|
UTSW |
6 |
63,886,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4591:Grid2
|
UTSW |
6 |
64,297,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Grid2
|
UTSW |
6 |
64,642,899 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4721:Grid2
|
UTSW |
6 |
64,643,185 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4755:Grid2
|
UTSW |
6 |
63,885,972 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4869:Grid2
|
UTSW |
6 |
64,406,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:Grid2
|
UTSW |
6 |
64,297,136 (GRCm39) |
nonsense |
probably null |
|
|
R5091:Grid2
|
UTSW |
6 |
64,053,862 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5117:Grid2
|
UTSW |
6 |
63,233,917 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5128:Grid2
|
UTSW |
6 |
64,642,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5386:Grid2
|
UTSW |
6 |
63,908,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5404:Grid2
|
UTSW |
6 |
63,907,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5534:Grid2
|
UTSW |
6 |
63,480,345 (GRCm39) |
missense |
probably benign |
|
|
R5626:Grid2
|
UTSW |
6 |
64,053,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5699:Grid2
|
UTSW |
6 |
63,885,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5700:Grid2
|
UTSW |
6 |
64,071,416 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5876:Grid2
|
UTSW |
6 |
64,640,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6446:Grid2
|
UTSW |
6 |
64,322,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6694:Grid2
|
UTSW |
6 |
63,908,031 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6697:Grid2
|
UTSW |
6 |
63,908,031 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6699:Grid2
|
UTSW |
6 |
63,908,031 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6767:Grid2
|
UTSW |
6 |
63,907,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6895:Grid2
|
UTSW |
6 |
64,372,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6999:Grid2
|
UTSW |
6 |
64,053,893 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7053:Grid2
|
UTSW |
6 |
64,677,402 (GRCm39) |
missense |
unknown |
|
|
R7126:Grid2
|
UTSW |
6 |
64,053,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7432:Grid2
|
UTSW |
6 |
64,252,854 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7553:Grid2
|
UTSW |
6 |
64,053,925 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7619:Grid2
|
UTSW |
6 |
63,908,085 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7997:Grid2
|
UTSW |
6 |
64,297,120 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8112:Grid2
|
UTSW |
6 |
63,885,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8296:Grid2
|
UTSW |
6 |
63,233,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8320:Grid2
|
UTSW |
6 |
63,233,917 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8467:Grid2
|
UTSW |
6 |
64,510,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8691:Grid2
|
UTSW |
6 |
63,480,321 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8890:Grid2
|
UTSW |
6 |
63,233,923 (GRCm39) |
missense |
probably benign |
|
|
R8965:Grid2
|
UTSW |
6 |
64,296,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Grid2
|
UTSW |
6 |
64,643,139 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9220:Grid2
|
UTSW |
6 |
63,885,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Grid2
|
UTSW |
6 |
64,677,506 (GRCm39) |
missense |
unknown |
|
|
R9653:Grid2
|
UTSW |
6 |
63,907,968 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1176:Grid2
|
UTSW |
6 |
64,640,212 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Grid2
|
UTSW |
6 |
63,885,863 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1177:Grid2
|
UTSW |
6 |
64,322,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Grid2
|
UTSW |
6 |
64,322,840 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTTTGATCTGACAGTGATGAAC -3'
(R):5'- ACAGCTGAAGTTTGGGGTAG -3'
Sequencing Primer
(F):5'- CTGAGAGATGACAAGAAATGGGCTG -3'
(R):5'- TTACCTTAAAAACAAGTTCTCCTACC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation