Incidental Mutation 'IGL03352:Grin3b'
ID |
419775 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Grin3b
|
Ensembl Gene |
ENSMUSG00000035745 |
Gene Name |
glutamate receptor, ionotropic, NMDA3B |
Synonyms |
NR3B |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03352
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
79806549-79813024 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79809615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 374
(R374C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045085]
[ENSMUST00000045247]
[ENSMUST00000052885]
|
AlphaFold |
Q91ZU9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045085
AA Change: R374C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048576 Gene: ENSMUSG00000035745 AA Change: R374C
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 |
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000149148
AA Change: R15C
|
SMART Domains |
Protein: ENSMUSP00000116887 Gene: ENSMUSG00000035745 AA Change: R15C
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoah |
A |
G |
13: 21,184,213 (GRCm39) |
S426G |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,114,355 (GRCm39) |
|
probably benign |
Het |
Arhgap45 |
T |
A |
10: 79,866,585 (GRCm39) |
N1029K |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,311,242 (GRCm39) |
M1K |
probably null |
Het |
Bloc1s6 |
T |
C |
2: 122,584,638 (GRCm39) |
L71P |
probably damaging |
Het |
Ccer1 |
G |
T |
10: 97,529,439 (GRCm39) |
R34M |
unknown |
Het |
Cd44 |
T |
C |
2: 102,675,759 (GRCm39) |
|
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,669,814 (GRCm39) |
|
probably null |
Het |
Cspp1 |
A |
G |
1: 10,117,662 (GRCm39) |
E38G |
possibly damaging |
Het |
Dock10 |
A |
T |
1: 80,584,013 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
A |
T |
18: 20,660,689 (GRCm39) |
M343L |
probably benign |
Het |
Eif3l |
G |
A |
15: 78,961,251 (GRCm39) |
|
probably benign |
Het |
Fcrl1 |
T |
C |
3: 87,292,398 (GRCm39) |
L150P |
probably benign |
Het |
Flg2 |
T |
G |
3: 93,109,801 (GRCm39) |
S610A |
unknown |
Het |
H2-Oa |
A |
T |
17: 34,313,377 (GRCm39) |
I143F |
probably damaging |
Het |
Itgae |
C |
T |
11: 73,022,556 (GRCm39) |
P924S |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,058,602 (GRCm39) |
D2521V |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,475,445 (GRCm39) |
M468K |
probably damaging |
Het |
Laptm4a |
G |
A |
12: 8,981,719 (GRCm39) |
G143D |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,456,726 (GRCm39) |
Y846C |
probably damaging |
Het |
Mcm10 |
A |
T |
2: 4,999,407 (GRCm39) |
S749T |
probably damaging |
Het |
Nemf |
T |
C |
12: 69,378,679 (GRCm39) |
N548D |
probably damaging |
Het |
Nlrp4e |
T |
A |
7: 23,020,251 (GRCm39) |
L246Q |
probably damaging |
Het |
Nsun6 |
A |
T |
2: 15,001,157 (GRCm39) |
C466* |
probably null |
Het |
Olfm2 |
T |
C |
9: 20,580,019 (GRCm39) |
D252G |
probably damaging |
Het |
Or10j5 |
A |
C |
1: 172,784,850 (GRCm39) |
M163L |
probably benign |
Het |
Or14j9 |
T |
A |
17: 37,874,681 (GRCm39) |
I174F |
probably damaging |
Het |
Or2h1 |
G |
A |
17: 37,404,311 (GRCm39) |
L152F |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,292 (GRCm39) |
I221V |
probably damaging |
Het |
Pcdhb14 |
C |
T |
18: 37,582,057 (GRCm39) |
R388C |
possibly damaging |
Het |
Piwil1 |
C |
T |
5: 128,828,136 (GRCm39) |
T712I |
probably benign |
Het |
Piwil4 |
G |
T |
9: 14,637,183 (GRCm39) |
T377K |
probably damaging |
Het |
Prg3 |
T |
C |
2: 84,823,370 (GRCm39) |
F182L |
probably damaging |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Retsat |
T |
C |
6: 72,575,666 (GRCm39) |
V19A |
probably damaging |
Het |
Rpl21-ps4 |
A |
T |
14: 11,227,760 (GRCm38) |
|
noncoding transcript |
Het |
Sh3glb2 |
A |
G |
2: 30,235,363 (GRCm39) |
V370A |
probably damaging |
Het |
Skint4 |
G |
T |
4: 112,022,883 (GRCm39) |
W459C |
possibly damaging |
Het |
Slco1a1 |
T |
A |
6: 141,857,611 (GRCm39) |
R573S |
probably benign |
Het |
Smgc |
T |
C |
15: 91,744,876 (GRCm39) |
S694P |
probably damaging |
Het |
Spaca6 |
A |
G |
17: 18,058,401 (GRCm39) |
Y7C |
probably damaging |
Het |
Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
Tepsin |
C |
T |
11: 119,982,703 (GRCm39) |
V456I |
probably benign |
Het |
Tex261 |
C |
T |
6: 83,748,249 (GRCm39) |
R171Q |
possibly damaging |
Het |
Tmem184a |
A |
T |
5: 139,798,755 (GRCm39) |
F65I |
probably damaging |
Het |
Tpm3 |
G |
A |
3: 89,995,052 (GRCm39) |
|
probably null |
Het |
Tubgcp2 |
T |
A |
7: 139,580,940 (GRCm39) |
H671L |
probably benign |
Het |
Unc13b |
T |
G |
4: 43,237,110 (GRCm39) |
D3393E |
possibly damaging |
Het |
Vcan |
T |
A |
13: 89,853,125 (GRCm39) |
M612L |
probably benign |
Het |
Vmn1r180 |
C |
A |
7: 23,652,077 (GRCm39) |
S80* |
probably null |
Het |
Vmn1r64 |
C |
T |
7: 5,887,070 (GRCm39) |
V158I |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,894,072 (GRCm39) |
V496I |
possibly damaging |
Het |
Wee2 |
T |
G |
6: 40,429,589 (GRCm39) |
|
probably null |
Het |
Zfp804b |
T |
C |
5: 6,820,039 (GRCm39) |
N972S |
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 |
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 |
R6262:Grin3b
|
UTSW |
10 |
79,810,203 (GRCm39) |
missense |
probably benign |
0.38 |
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 |
|
Posted On |
2016-08-02 |