Incidental Mutation 'R6262:Grin3b'
ID |
506770 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grin3b
|
Ensembl Gene |
ENSMUSG00000035745 |
Gene Name |
glutamate receptor, ionotropic, NMDA3B |
Synonyms |
NR3B |
MMRRC Submission |
045016-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6262 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79806549-79813024 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 79810203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 570
(M570L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045085]
[ENSMUST00000045247]
[ENSMUST00000052885]
|
AlphaFold |
Q91ZU9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045085
AA Change: M570L
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000048576 Gene: ENSMUSG00000035745 AA Change: M570L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
39 |
60 |
N/A |
INTRINSIC |
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
PBPe
|
458 |
810 |
1.01e-82 |
SMART |
Lig_chan-Glu_bd
|
459 |
522 |
6.6e-20 |
SMART |
transmembrane domain
|
826 |
848 |
N/A |
INTRINSIC |
low complexity region
|
914 |
930 |
N/A |
INTRINSIC |
coiled coil region
|
950 |
984 |
N/A |
INTRINSIC |
low complexity region
|
989 |
1001 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045247
|
SMART Domains |
Protein: ENSMUSP00000041049 Gene: ENSMUSG00000035754
Domain | Start | End | E-Value | Type |
Blast:WD40
|
27 |
66 |
3e-17 |
BLAST |
WD40
|
70 |
107 |
1.48e1 |
SMART |
WD40
|
110 |
149 |
1.24e-4 |
SMART |
WD40
|
161 |
202 |
2.49e-1 |
SMART |
WD40
|
205 |
243 |
2.05e1 |
SMART |
WD40
|
258 |
297 |
2.32e-9 |
SMART |
low complexity region
|
353 |
367 |
N/A |
INTRINSIC |
Pfam:WD40_alt
|
383 |
429 |
4.3e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052885
|
SMART Domains |
Protein: ENSMUSP00000056792 Gene: ENSMUSG00000013858
Domain | Start | End | E-Value | Type |
Pfam:Membralin
|
34 |
131 |
3.3e-44 |
PFAM |
Pfam:Membralin
|
138 |
393 |
3.9e-130 |
PFAM |
transmembrane domain
|
394 |
411 |
N/A |
INTRINSIC |
low complexity region
|
455 |
470 |
N/A |
INTRINSIC |
low complexity region
|
483 |
521 |
N/A |
INTRINSIC |
low complexity region
|
531 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124536
|
SMART Domains |
Protein: ENSMUSP00000119572 Gene: ENSMUSG00000013858
Domain | Start | End | E-Value | Type |
Pfam:Membralin
|
4 |
101 |
1.6e-44 |
PFAM |
Pfam:Membralin
|
108 |
297 |
7.7e-83 |
PFAM |
Pfam:Membralin
|
316 |
387 |
5e-42 |
PFAM |
transmembrane domain
|
388 |
405 |
N/A |
INTRINSIC |
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
low complexity region
|
477 |
515 |
N/A |
INTRINSIC |
low complexity region
|
525 |
538 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124889
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126383
|
Predicted Effect |
unknown
Transcript: ENSMUST00000149148
AA Change: M211L
|
SMART Domains |
Protein: ENSMUSP00000116887 Gene: ENSMUSG00000035745 AA Change: M211L
Domain | Start | End | E-Value | Type |
PBPe
|
100 |
452 |
1.01e-82 |
SMART |
Lig_chan-Glu_bd
|
101 |
164 |
6.6e-20 |
SMART |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132080
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131816
|
SMART Domains |
Protein: ENSMUSP00000122984 Gene: ENSMUSG00000035745
Domain | Start | End | E-Value | Type |
Pfam:Lig_chan
|
1 |
368 |
2.2e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.3703 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
97% (58/60) |
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 subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015] PHENOTYPE: Mice homozygous for a null allele show a mild impairment in motor learning or coordination, reduced home cage activity, a highly increased social interaction with familiar cagemates in their home cage but moderately increased anxiety-like behavior and reduced social interaction in a new environment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,092,917 (GRCm39) |
T289I |
probably benign |
Het |
Abca2 |
T |
C |
2: 25,334,922 (GRCm39) |
Y1965H |
possibly damaging |
Het |
Adam26a |
T |
C |
8: 44,022,125 (GRCm39) |
N455S |
possibly damaging |
Het |
Art5 |
C |
T |
7: 101,747,338 (GRCm39) |
G147D |
probably benign |
Het |
Atp5f1a |
G |
A |
18: 77,868,912 (GRCm39) |
V429M |
probably damaging |
Het |
Calr4 |
A |
T |
4: 109,108,564 (GRCm39) |
N213I |
probably damaging |
Het |
Cchcr1 |
T |
C |
17: 35,841,413 (GRCm39) |
S810P |
probably benign |
Het |
Cdh4 |
A |
T |
2: 179,439,419 (GRCm39) |
R189W |
probably damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,212,606 (GRCm39) |
D84G |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,705,420 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
T |
A |
6: 45,037,046 (GRCm39) |
|
probably null |
Het |
Cntnap4 |
T |
C |
8: 113,529,843 (GRCm39) |
Y684H |
probably damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,011,655 (GRCm39) |
V292E |
probably damaging |
Het |
Dap |
A |
G |
15: 31,235,960 (GRCm39) |
T10A |
probably benign |
Het |
Dnah11 |
G |
A |
12: 117,894,913 (GRCm39) |
R3645C |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,772,631 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,784,579 (GRCm39) |
M2787K |
probably benign |
Het |
Efr3a |
T |
C |
15: 65,729,323 (GRCm39) |
S675P |
possibly damaging |
Het |
Gria1 |
A |
G |
11: 57,133,680 (GRCm39) |
K451E |
probably damaging |
Het |
Hs2st1 |
A |
G |
3: 144,140,374 (GRCm39) |
F316L |
probably damaging |
Het |
Hs6st3 |
A |
G |
14: 119,376,403 (GRCm39) |
T193A |
possibly damaging |
Het |
Hspg2 |
A |
T |
4: 137,246,997 (GRCm39) |
D1108V |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,653,720 (GRCm39) |
L86Q |
probably damaging |
Het |
Inpp5j |
A |
G |
11: 3,452,615 (GRCm39) |
S212P |
probably benign |
Het |
Junb |
A |
G |
8: 85,704,359 (GRCm39) |
S234P |
possibly damaging |
Het |
Lhx3 |
GTGTTGT |
GTGT |
2: 26,092,435 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,366,983 (GRCm39) |
S1028P |
possibly damaging |
Het |
Met |
C |
A |
6: 17,553,403 (GRCm39) |
A1063E |
probably benign |
Het |
Mink1 |
T |
C |
11: 70,494,151 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,610,552 (GRCm39) |
E1621G |
possibly damaging |
Het |
Mug2 |
T |
C |
6: 122,052,214 (GRCm39) |
Y991H |
probably damaging |
Het |
Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
Nkx6-3 |
T |
C |
8: 23,643,863 (GRCm39) |
V88A |
probably benign |
Het |
Nr3c2 |
A |
G |
8: 77,635,262 (GRCm39) |
Q121R |
possibly damaging |
Het |
Nup155 |
T |
C |
15: 8,186,225 (GRCm39) |
V1329A |
probably benign |
Het |
Or2d36 |
T |
C |
7: 106,746,918 (GRCm39) |
Y132H |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,738 (GRCm39) |
V224A |
probably benign |
Het |
Pcdhb17 |
T |
A |
18: 37,619,751 (GRCm39) |
F514I |
probably damaging |
Het |
Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
Prl8a1 |
A |
T |
13: 27,758,126 (GRCm39) |
H194Q |
possibly damaging |
Het |
Sh3tc1 |
C |
G |
5: 35,857,117 (GRCm39) |
E1241Q |
probably damaging |
Het |
Slc6a6 |
A |
T |
6: 91,732,013 (GRCm39) |
H614L |
possibly damaging |
Het |
Sort1 |
A |
G |
3: 108,217,527 (GRCm39) |
Y143C |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,141,360 (GRCm39) |
W569R |
probably null |
Het |
Taco1 |
A |
T |
11: 105,962,693 (GRCm39) |
K127* |
probably null |
Het |
Tas2r110 |
T |
C |
6: 132,845,638 (GRCm39) |
I223T |
probably damaging |
Het |
Tex21 |
A |
G |
12: 76,259,306 (GRCm39) |
I329T |
probably damaging |
Het |
Tmprss11b |
T |
C |
5: 86,810,119 (GRCm39) |
H287R |
probably benign |
Het |
Trim30a |
A |
G |
7: 104,060,741 (GRCm39) |
L345P |
probably benign |
Het |
Vmn1r62 |
G |
A |
7: 5,678,556 (GRCm39) |
C79Y |
probably damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,606,351 (GRCm39) |
K421R |
probably benign |
Het |
Vwde |
C |
T |
6: 13,205,020 (GRCm39) |
S287N |
probably damaging |
Het |
Xrcc4 |
A |
T |
13: 89,926,906 (GRCm39) |
M300K |
probably benign |
Het |
Zan |
A |
T |
5: 137,427,747 (GRCm39) |
|
probably null |
Het |
Zbtb7c |
A |
G |
18: 76,270,413 (GRCm39) |
D167G |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,249,881 (GRCm39) |
Y1165C |
probably damaging |
Het |
Zfp326 |
T |
A |
5: 106,036,353 (GRCm39) |
L88Q |
probably damaging |
Het |
Zfp667 |
A |
G |
7: 6,307,973 (GRCm39) |
T214A |
probably benign |
Het |
|
Other mutations in Grin3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02754:Grin3b
|
APN |
10 |
79,808,723 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03352:Grin3b
|
APN |
10 |
79,809,615 (GRCm39) |
missense |
probably damaging |
0.99 |
R0485:Grin3b
|
UTSW |
10 |
79,809,890 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0927:Grin3b
|
UTSW |
10 |
79,807,062 (GRCm39) |
missense |
probably benign |
0.04 |
R1526:Grin3b
|
UTSW |
10 |
79,810,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1699:Grin3b
|
UTSW |
10 |
79,811,716 (GRCm39) |
missense |
probably damaging |
0.99 |
R1789:Grin3b
|
UTSW |
10 |
79,809,242 (GRCm39) |
missense |
probably benign |
|
R1916:Grin3b
|
UTSW |
10 |
79,810,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Grin3b
|
UTSW |
10 |
79,810,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Grin3b
|
UTSW |
10 |
79,806,746 (GRCm39) |
missense |
probably benign |
|
R4359:Grin3b
|
UTSW |
10 |
79,808,731 (GRCm39) |
missense |
probably benign |
0.00 |
R4817:Grin3b
|
UTSW |
10 |
79,812,732 (GRCm39) |
missense |
probably benign |
0.01 |
R4909:Grin3b
|
UTSW |
10 |
79,812,938 (GRCm39) |
makesense |
probably null |
|
R4942:Grin3b
|
UTSW |
10 |
79,811,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R4981:Grin3b
|
UTSW |
10 |
79,812,191 (GRCm39) |
intron |
probably benign |
|
R5689:Grin3b
|
UTSW |
10 |
79,810,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R5910:Grin3b
|
UTSW |
10 |
79,808,855 (GRCm39) |
missense |
probably benign |
0.00 |
R6132:Grin3b
|
UTSW |
10 |
79,812,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R6242:Grin3b
|
UTSW |
10 |
79,812,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Grin3b
|
UTSW |
10 |
79,812,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R6942:Grin3b
|
UTSW |
10 |
79,811,953 (GRCm39) |
critical splice donor site |
probably null |
|
R7201:Grin3b
|
UTSW |
10 |
79,809,912 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7322:Grin3b
|
UTSW |
10 |
79,811,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Grin3b
|
UTSW |
10 |
79,808,885 (GRCm39) |
missense |
probably benign |
|
R7707:Grin3b
|
UTSW |
10 |
79,811,735 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7980:Grin3b
|
UTSW |
10 |
79,811,559 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8069:Grin3b
|
UTSW |
10 |
79,812,868 (GRCm39) |
missense |
unknown |
|
R8128:Grin3b
|
UTSW |
10 |
79,812,944 (GRCm39) |
missense |
|
|
R8434:Grin3b
|
UTSW |
10 |
79,810,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Grin3b
|
UTSW |
10 |
79,808,972 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8777-TAIL:Grin3b
|
UTSW |
10 |
79,808,972 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8848:Grin3b
|
UTSW |
10 |
79,809,667 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTGGCCTTTGACTTTGAG -3'
(R):5'- CAGTGCGTCCGAAGAGAATG -3'
Sequencing Primer
(F):5'- CGTGATGGACGCTGGACAG -3'
(R):5'- CGTCCGAAGAGAATGGCGTAG -3'
|
Posted On |
2018-03-15 |