Incidental Mutation 'R6336:Grin3b'
| ID |
510767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin3b
|
| Ensembl Gene |
ENSMUSG00000035745 |
| Gene Name |
glutamate receptor, ionotropic, NMDA3B |
| Synonyms |
NR3B |
| MMRRC Submission |
044490-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79806549-79813024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79812295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 845
(A845E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045085]
[ENSMUST00000052885]
|
| AlphaFold |
Q91ZU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045085
AA Change: A845E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: A845E
| 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 |
unknown
Transcript: ENSMUST00000131816
AA Change: H233N
|
| SMART Domains |
Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745
AA Change: H233N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lig_chan
|
1 |
368 |
2.2e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132080
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149148
AA Change: A486E
|
| SMART Domains |
Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745
AA Change: A486E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (45/46) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,331,349 (GRCm39) |
P955Q |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,534,100 (GRCm39) |
N5827S |
probably benign |
Het |
| Akt3 |
T |
C |
1: 176,859,278 (GRCm39) |
D431G |
probably damaging |
Het |
| Anapc16 |
A |
T |
10: 59,824,651 (GRCm39) |
V76D |
possibly damaging |
Het |
| Ankib1 |
A |
T |
5: 3,750,377 (GRCm39) |
Y755* |
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,860,411 (GRCm39) |
S11P |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,128,646 (GRCm39) |
K917* |
probably null |
Het |
| Ccdc152 |
T |
C |
15: 3,330,611 (GRCm39) |
I21M |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,819 (GRCm39) |
E207G |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,512,239 (GRCm39) |
A499E |
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,286,394 (GRCm39) |
A383V |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,509,027 (GRCm39) |
V89A |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,121,851 (GRCm39) |
176 |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 71,122,284 (GRCm39) |
D904E |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,370,347 (GRCm39) |
L849H |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,728,545 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
C |
A |
15: 58,431,081 (GRCm39) |
Y245* |
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,839,964 (GRCm39) |
Y109H |
probably damaging |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,491 (GRCm39) |
D43G |
probably benign |
Het |
| Gabrb1 |
A |
C |
5: 72,187,241 (GRCm39) |
E178A |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,473,355 (GRCm39) |
|
|
Het |
| Hoxd4 |
A |
G |
2: 74,557,705 (GRCm39) |
Y28C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,237,760 (GRCm39) |
T807M |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,778,767 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,375,939 (GRCm39) |
T565K |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,130,475 (GRCm39) |
S412P |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,800,558 (GRCm39) |
|
probably null |
Het |
| Mto1 |
A |
T |
9: 78,381,117 (GRCm39) |
I73F |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,458,796 (GRCm39) |
D310N |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,709,821 (GRCm39) |
Y393H |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,459 (GRCm39) |
C112S |
probably damaging |
Het |
| Or2f1b |
T |
C |
6: 42,739,591 (GRCm39) |
S202P |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,369 (GRCm39) |
K301N |
probably damaging |
Het |
| Or4f47 |
A |
C |
2: 111,972,751 (GRCm39) |
I154L |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,494,964 (GRCm39) |
H131R |
possibly damaging |
Het |
| Or52z1 |
T |
C |
7: 103,437,452 (GRCm39) |
T11A |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,952 (GRCm39) |
|
probably benign |
Het |
| Potefam3f |
A |
G |
8: 20,499,951 (GRCm39) |
K242E |
unknown |
Het |
| Rnf17 |
A |
G |
14: 56,658,626 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,378,677 (GRCm39) |
M41T |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,384 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
G |
A |
19: 8,599,494 (GRCm39) |
R331H |
probably benign |
Het |
| Spg11 |
G |
C |
2: 121,943,440 (GRCm39) |
|
probably null |
Het |
| Src |
T |
A |
2: 157,299,075 (GRCm39) |
V24E |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,761,846 (GRCm39) |
Y101N |
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,307 (GRCm39) |
T110S |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,361,646 (GRCm39) |
E119G |
possibly damaging |
Het |
| Whamm |
T |
A |
7: 81,241,512 (GRCm39) |
D274E |
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 |
|
|
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 |
|
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'- GATCTTCTAGGGGCACAGACAG -3'
Sequencing Primer
(F):5'- CCAGGCTATGCTTGCATGC -3'
(R):5'- CACAGACAGGTGTTTGGGTAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation