Incidental Mutation 'IGL02754:Grin3b'
| ID |
306335 |
| 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 # |
IGL02754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79806549-79813024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79808723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 158
(I158F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045085]
[ENSMUST00000045247]
[ENSMUST00000052885]
|
| AlphaFold |
Q91ZU9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045085
AA Change: I158F
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: I158F
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000132080
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149148
|
| SMART Domains |
Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745
| 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: ENSMUST00000218515
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AW551984 |
T |
A |
9: 39,507,922 (GRCm39) |
R405* |
probably null |
Het |
| AW551984 |
C |
T |
9: 39,504,624 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,197,481 (GRCm39) |
E968G |
possibly damaging |
Het |
| Ccdc68 |
T |
C |
18: 70,076,935 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
A |
19: 4,889,889 (GRCm39) |
L127H |
probably damaging |
Het |
| Cdk5r1 |
G |
T |
11: 80,368,569 (GRCm39) |
A79S |
probably benign |
Het |
| Cdyl |
A |
T |
13: 35,867,725 (GRCm39) |
|
probably benign |
Het |
| Cfdp1 |
A |
G |
8: 112,580,766 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,111,339 (GRCm39) |
I62F |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,481,706 (GRCm39) |
I789K |
probably benign |
Het |
| Cobl |
T |
C |
11: 12,204,371 (GRCm39) |
K695R |
probably damaging |
Het |
| Cobl |
C |
A |
11: 12,204,370 (GRCm39) |
K752N |
probably damaging |
Het |
| Cstdc5 |
G |
A |
16: 36,179,899 (GRCm39) |
P73S |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,165,915 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
T |
16: 20,451,398 (GRCm39) |
I197F |
probably damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,321,536 (GRCm39) |
V363G |
possibly damaging |
Het |
| Gca |
T |
C |
2: 62,502,702 (GRCm39) |
S37P |
probably benign |
Het |
| Ghsr |
A |
C |
3: 27,426,645 (GRCm39) |
I234L |
probably damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,747 (GRCm39) |
D178E |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,747,246 (GRCm39) |
E461G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,547,057 (GRCm39) |
N531I |
possibly damaging |
Het |
| Insl6 |
G |
T |
19: 29,302,529 (GRCm39) |
Q63K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,691,952 (GRCm39) |
|
probably null |
Het |
| Lvrn |
C |
T |
18: 47,023,971 (GRCm39) |
Q773* |
probably null |
Het |
| Mterf1b |
T |
C |
5: 4,246,478 (GRCm39) |
F40L |
possibly damaging |
Het |
| Nrg1 |
G |
A |
8: 32,316,391 (GRCm39) |
|
probably benign |
Het |
| Or10ak13 |
T |
A |
4: 118,639,117 (GRCm39) |
I222F |
possibly damaging |
Het |
| Or1n1 |
T |
A |
2: 36,750,232 (GRCm39) |
I43F |
probably damaging |
Het |
| Or5p79 |
T |
C |
7: 108,221,880 (GRCm39) |
I287T |
possibly damaging |
Het |
| Pax5 |
C |
T |
4: 44,570,059 (GRCm39) |
V319I |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,956,307 (GRCm39) |
T321S |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,212,676 (GRCm39) |
E660G |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,943,428 (GRCm39) |
M1T |
probably null |
Het |
| Prickle1 |
C |
T |
15: 93,399,034 (GRCm39) |
S598N |
possibly damaging |
Het |
| Prtn3 |
A |
G |
10: 79,716,932 (GRCm39) |
Q99R |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,592,883 (GRCm39) |
V89A |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,153,213 (GRCm39) |
Y485C |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,379,124 (GRCm39) |
F980I |
possibly damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,140,279 (GRCm39) |
Y228C |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,435,028 (GRCm39) |
C779Y |
possibly damaging |
Het |
| Tfdp2 |
T |
G |
9: 96,199,592 (GRCm39) |
S285A |
probably benign |
Het |
| Thsd4 |
T |
A |
9: 59,896,380 (GRCm39) |
|
probably benign |
Het |
| Tmem106a |
A |
C |
11: 101,481,219 (GRCm39) |
E242D |
probably benign |
Het |
| Ttc22 |
T |
C |
4: 106,495,669 (GRCm39) |
V341A |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,138,095 (GRCm39) |
S1151T |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
| Vmn1r206 |
A |
T |
13: 22,805,060 (GRCm39) |
L49* |
probably null |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,887 (GRCm39) |
F21Y |
probably benign |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,886 (GRCm39) |
F21L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,134 (GRCm39) |
C241* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,003,764 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Grin3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation