Incidental Mutation 'R6132:Grin3b'
| ID |
487187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin3b
|
| Ensembl Gene |
ENSMUSG00000035745 |
| Gene Name |
glutamate receptor, ionotropic, NMDA3B |
| Synonyms |
NR3B |
| MMRRC Submission |
044279-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6132 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79806549-79813024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79812274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 479
(L479P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045085]
[ENSMUST00000052885]
|
| AlphaFold |
Q91ZU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045085
AA Change: L838P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: L838P
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000131816
AA Change: C226R
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745
AA Change: C226R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lig_chan
|
1 |
368 |
2.2e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132080
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149148
AA Change: L479P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745
AA Change: L479P
| 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 |
|
| Meta Mutation Damage Score |
0.8690 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (49/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,960,643 (GRCm39) |
Y702H |
probably benign |
Het |
| Adgrv1 |
G |
T |
13: 81,654,195 (GRCm39) |
N2225K |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Alkbh5 |
G |
T |
11: 60,428,821 (GRCm39) |
|
probably benign |
Het |
| Atp5mc1 |
A |
G |
11: 95,965,850 (GRCm39) |
M1T |
probably null |
Het |
| Crebrf |
C |
T |
17: 26,982,377 (GRCm39) |
P588S |
probably benign |
Het |
| Ctsr |
A |
C |
13: 61,309,582 (GRCm39) |
|
probably null |
Het |
| Cyp2c68 |
A |
G |
19: 39,691,858 (GRCm39) |
V355A |
possibly damaging |
Het |
| Ddx52 |
A |
G |
11: 83,850,283 (GRCm39) |
K555E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,067,811 (GRCm39) |
S410T |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,914,847 (GRCm39) |
I884N |
probably damaging |
Het |
| Dlg1 |
A |
T |
16: 31,655,059 (GRCm39) |
N518I |
possibly damaging |
Het |
| Dnah12 |
T |
A |
14: 26,439,066 (GRCm39) |
I506N |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,917,173 (GRCm39) |
L129P |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,808,401 (GRCm39) |
N38D |
probably benign |
Het |
| Esf1 |
A |
G |
2: 140,001,699 (GRCm39) |
F383L |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,735,033 (GRCm39) |
E550G |
probably damaging |
Het |
| Fbxo44 |
G |
A |
4: 148,240,565 (GRCm39) |
T221I |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,867,688 (GRCm39) |
M112L |
possibly damaging |
Het |
| Golph3l |
C |
G |
3: 95,499,145 (GRCm39) |
P96A |
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,491,356 (GRCm39) |
I727F |
possibly damaging |
Het |
| Kdm5a |
C |
T |
6: 120,351,892 (GRCm39) |
H161Y |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,510,038 (GRCm39) |
S73P |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,778,213 (GRCm39) |
N4S |
possibly damaging |
Het |
| Mkln1 |
G |
A |
6: 31,408,155 (GRCm39) |
V161M |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Nrcam |
T |
A |
12: 44,617,007 (GRCm39) |
Y668N |
probably damaging |
Het |
| Oacyl |
G |
T |
18: 65,859,426 (GRCm39) |
G255W |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,843 (GRCm39) |
I298L |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,367 (GRCm39) |
V221A |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,490 (GRCm39) |
S228T |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Otor |
A |
T |
2: 142,920,520 (GRCm39) |
D34V |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,455 (GRCm39) |
Y540C |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,133,770 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
G |
A |
10: 81,335,030 (GRCm39) |
A148V |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,442,761 (GRCm39) |
V1495M |
possibly damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,531 (GRCm39) |
K154E |
possibly damaging |
Het |
| Sema3a |
T |
G |
5: 13,573,142 (GRCm39) |
|
probably null |
Het |
| Slf2 |
T |
A |
19: 44,949,300 (GRCm39) |
N870K |
possibly damaging |
Het |
| Spmip6 |
C |
T |
4: 41,517,160 (GRCm39) |
M1I |
probably null |
Het |
| Syne2 |
T |
C |
12: 75,991,921 (GRCm39) |
V1962A |
probably benign |
Het |
| Tarbp1 |
T |
A |
8: 127,161,548 (GRCm39) |
I1219F |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,649,079 (GRCm39) |
C173W |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,641 (GRCm39) |
F242S |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,443,334 (GRCm39) |
S174P |
probably benign |
Het |
| Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,666 (GRCm39) |
T578A |
probably benign |
Het |
| Zfp457 |
G |
T |
13: 67,441,360 (GRCm39) |
S309* |
probably null |
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 |
|
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'- GGTACAAGATGGTGCCTTGC -3'
(R):5'- ACAGACAGGTGTTTGGGTAG -3'
Sequencing Primer
(F):5'- CCAGGCTATGCTTGCATGC -3'
(R):5'- GGTAGGCTCCTGAGGTGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation