Incidental Mutation 'R0927:Grin3b'
| ID |
80531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grin3b
|
| Ensembl Gene |
ENSMUSG00000035745 |
| Gene Name |
glutamate receptor, ionotropic, NMDA3B |
| Synonyms |
NR3B |
| MMRRC Submission |
039074-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0927 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79806549-79813024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79807062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 110
(R110Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045085]
[ENSMUST00000045247]
|
| AlphaFold |
Q91ZU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045085
AA Change: R110Q
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: R110Q
| 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 |
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: ENSMUST00000218449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220249
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.7%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,607,317 (GRCm39) |
L363P |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,599,959 (GRCm39) |
H85L |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,621 (GRCm39) |
H341Q |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,160 (GRCm39) |
M688K |
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,754,133 (GRCm39) |
L322P |
probably damaging |
Het |
| Adcy5 |
T |
A |
16: 34,976,613 (GRCm39) |
S49T |
probably benign |
Het |
| Arfgap2 |
T |
C |
2: 91,104,150 (GRCm39) |
S374P |
probably benign |
Het |
| Arpp19 |
G |
A |
9: 74,944,967 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,941,773 (GRCm39) |
K1478E |
probably damaging |
Het |
| Cdc27 |
G |
T |
11: 104,396,467 (GRCm39) |
A812E |
possibly damaging |
Het |
| Chtf8 |
G |
A |
8: 107,612,150 (GRCm39) |
T263I |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,113,849 (GRCm39) |
N70D |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,349,553 (GRCm39) |
T289S |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,795,840 (GRCm39) |
N177S |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,465,313 (GRCm39) |
|
probably null |
Het |
| Enam |
T |
A |
5: 88,641,919 (GRCm39) |
N244K |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,770 (GRCm39) |
K874E |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,578,239 (GRCm39) |
E432G |
possibly damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,748 (GRCm39) |
V423D |
possibly damaging |
Het |
| Ifit2 |
A |
T |
19: 34,550,984 (GRCm39) |
T175S |
probably benign |
Het |
| Kcnj8 |
T |
G |
6: 142,511,627 (GRCm39) |
I327L |
possibly damaging |
Het |
| Kcns2 |
A |
T |
15: 34,839,242 (GRCm39) |
I202F |
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,087,010 (GRCm39) |
R305G |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,154,576 (GRCm39) |
D362G |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,687,540 (GRCm39) |
I2815T |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,843 (GRCm39) |
M433I |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,462,040 (GRCm39) |
D312G |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,344,758 (GRCm39) |
I382N |
probably damaging |
Het |
| Nudt6 |
C |
T |
3: 37,459,502 (GRCm39) |
R161H |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,631,816 (GRCm39) |
W8R |
probably damaging |
Het |
| Or11g2 |
A |
C |
14: 50,856,044 (GRCm39) |
M122L |
possibly damaging |
Het |
| Or4m1 |
A |
T |
14: 50,558,186 (GRCm39) |
Y35* |
probably null |
Het |
| Or7e166 |
C |
T |
9: 19,624,945 (GRCm39) |
A274V |
probably benign |
Het |
| Pmf1 |
A |
T |
3: 88,303,369 (GRCm39) |
V64D |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,009,048 (GRCm39) |
V29D |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,380,790 (GRCm39) |
H411L |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,378 (GRCm39) |
D38E |
probably benign |
Het |
| Prex1 |
C |
T |
2: 166,428,457 (GRCm39) |
A925T |
probably benign |
Het |
| Pus3 |
A |
G |
9: 35,476,327 (GRCm39) |
Y72C |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,176 (GRCm39) |
S247P |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,305,396 (GRCm39) |
D542E |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,063,895 (GRCm39) |
D786G |
probably benign |
Het |
| Sirt6 |
A |
T |
10: 81,458,475 (GRCm39) |
D219E |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,072,411 (GRCm39) |
I67N |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,264,248 (GRCm39) |
F57S |
probably damaging |
Het |
| Spg11 |
T |
A |
2: 121,924,968 (GRCm39) |
T756S |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,071,591 (GRCm39) |
R1447L |
probably damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,907,387 (GRCm39) |
M340V |
probably damaging |
Het |
| Thap1 |
T |
C |
8: 26,652,733 (GRCm39) |
V157A |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,934,853 (GRCm39) |
Q354* |
probably null |
Het |
| Ubtd1 |
G |
A |
19: 42,020,460 (GRCm39) |
W68* |
probably null |
Het |
| Wdr64 |
G |
T |
1: 175,620,647 (GRCm39) |
R793L |
probably damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,327,432 (GRCm39) |
T106I |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,337 (GRCm39) |
N233S |
possibly damaging |
Het |
| Zcchc24 |
A |
T |
14: 25,757,585 (GRCm39) |
N99K |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCACAGCACAGTGGTAACTTC -3'
(R):5'- AGCGGAATACTGTTCTAGCCAAAGC -3'
Sequencing Primer
(F):5'- ACAGTGGTAACTTCCATCGG -3'
(R):5'- GCATGTTAAGGCATCTTGGGAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation