Incidental Mutation 'R5689:Grin3b'
| ID |
443582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin3b
|
| Ensembl Gene |
ENSMUSG00000035745 |
| Gene Name |
glutamate receptor, ionotropic, NMDA3B |
| Synonyms |
NR3B |
| MMRRC Submission |
043322-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5689 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79806549-79813024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79810465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 657
(L657P)
|
| 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: L657P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: L657P
| 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: ENSMUST00000131816
AA Change: L74P
|
| SMART Domains |
Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745
AA Change: L74P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lig_chan
|
1 |
368 |
2.2e-20 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149148
AA Change: L298P
|
| SMART Domains |
Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745
AA Change: L298P
| 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
|
| Meta Mutation Damage Score |
0.6931 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (63/66) |
| 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 |
|---|
| Adcy7 |
G |
T |
8: 89,051,412 (GRCm39) |
C844F |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,075,621 (GRCm39) |
V945A |
probably damaging |
Het |
| Aimp2 |
T |
C |
5: 143,843,389 (GRCm39) |
D67G |
possibly damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,888,501 (GRCm39) |
V924F |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Cfb |
T |
A |
17: 35,080,770 (GRCm39) |
T76S |
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,519,766 (GRCm39) |
H139L |
probably benign |
Het |
| Cypt4 |
T |
C |
9: 24,536,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Dbx1 |
A |
G |
7: 49,282,519 (GRCm39) |
F229L |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,444,857 (GRCm39) |
V3949A |
possibly damaging |
Het |
| Dnajc25 |
A |
G |
4: 59,017,716 (GRCm39) |
E6G |
probably damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,169,689 (GRCm39) |
V263F |
probably damaging |
Het |
| Eno4 |
T |
A |
19: 58,959,088 (GRCm39) |
D403E |
probably benign |
Het |
| Evi5l |
C |
T |
8: 4,255,460 (GRCm39) |
Q542* |
probably null |
Het |
| Fam135a |
A |
G |
1: 24,068,134 (GRCm39) |
S12P |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,441,591 (GRCm39) |
A458T |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,115 (GRCm39) |
V517A |
probably damaging |
Het |
| Galc |
G |
T |
12: 98,179,245 (GRCm39) |
H361N |
possibly damaging |
Het |
| Gask1a |
T |
C |
9: 121,794,754 (GRCm39) |
F303L |
probably damaging |
Het |
| Gcnt1 |
T |
A |
19: 17,306,768 (GRCm39) |
D319V |
probably damaging |
Het |
| Gm26996 |
T |
C |
6: 130,555,258 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5321 |
A |
T |
7: 6,022,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm5 |
T |
C |
3: 107,803,981 (GRCm39) |
F54S |
probably damaging |
Het |
| Ilk |
C |
A |
7: 105,390,857 (GRCm39) |
L267I |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,214,285 (GRCm39) |
Y713C |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,965,961 (GRCm39) |
V386E |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,023,764 (GRCm39) |
E587G |
probably damaging |
Het |
| Or10g3 |
C |
T |
14: 52,610,214 (GRCm39) |
V99M |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,171,728 (GRCm39) |
*173W |
probably null |
Het |
| Pcdhga7 |
C |
A |
18: 37,849,736 (GRCm39) |
P581H |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,599,683 (GRCm39) |
L2384* |
probably null |
Het |
| Phf12 |
T |
A |
11: 77,914,551 (GRCm39) |
N115K |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,552,170 (GRCm39) |
T335A |
probably damaging |
Het |
| Polr3e |
C |
A |
7: 120,539,912 (GRCm39) |
T579K |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,045,515 (GRCm39) |
V164A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,866,269 (GRCm39) |
F43S |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,434,177 (GRCm38) |
I334F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,670,954 (GRCm39) |
Y167H |
probably damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,800 (GRCm39) |
T29A |
probably benign |
Het |
| Rsf1 |
GC |
GCGGCGGCGCC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,598,710 (GRCm39) |
M223I |
probably benign |
Het |
| Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
| Slitrk6 |
C |
T |
14: 110,989,558 (GRCm39) |
E50K |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,975,949 (GRCm39) |
F544S |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,571,063 (GRCm39) |
M444V |
possibly damaging |
Het |
| Trav7d-4 |
G |
A |
14: 53,007,651 (GRCm39) |
R48H |
probably damaging |
Het |
| Trim50 |
A |
T |
5: 135,382,516 (GRCm39) |
T123S |
probably damaging |
Het |
| Trpc4ap |
C |
G |
2: 155,512,955 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,618,620 (GRCm39) |
R14475S |
probably damaging |
Het |
| Uts2 |
A |
T |
4: 151,083,565 (GRCm39) |
T59S |
possibly damaging |
Het |
| Vmn1r52 |
T |
C |
6: 90,156,232 (GRCm39) |
S179P |
possibly damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,616,693 (GRCm39) |
H537R |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,311,360 (GRCm39) |
T445A |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,054 (GRCm39) |
V73A |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGTACGAATGGCGGAG -3'
(R):5'- GCGCTTAAGTTAATGAGTCTCTTG -3'
Sequencing Primer
(F):5'- TACGAATGGCGGAGTCCCTAC -3'
(R):5'- CTCTTGATGAGAAGGGAATGGGTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation