Incidental Mutation 'R0006:Gabrd'
| ID |
8153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrd
|
| Ensembl Gene |
ENSMUSG00000029054 |
| Gene Name |
gamma-aminobutyric acid (GABA) A receptor, subunit delta |
| Synonyms |
|
| MMRRC Submission |
041980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0006 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155469436-155482549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 155473058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 72
(V72L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030925]
|
| AlphaFold |
P22933 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030925
AA Change: V72L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030925
Gene: ENSMUSG00000029054
AA Change: V72L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
43 |
247 |
9.8e-48 |
PFAM |
|
Pfam:Neur_chan_memb
|
254 |
402 |
6.5e-34 |
PFAM |
|
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150423
|
| Meta Mutation Damage Score |
0.1567 |
| Coding Region Coverage |
- 1x: 77.9%
- 3x: 66.3%
- 10x: 36.9%
- 20x: 17.4%
|
| Validation Efficiency |
95% (74/78) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased postpartum depression and anxiety behaviors, lethality of pups due to materal neglect, and increased cued and contextual conditional freezing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
A |
G |
10: 83,438,762 (GRCm39) |
F556L |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,992,030 (GRCm39) |
S210T |
possibly damaging |
Het |
| Aurka |
A |
G |
2: 172,201,673 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,472,750 (GRCm39) |
I351T |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,339 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,288,244 (GRCm39) |
I284F |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,267,999 (GRCm39) |
T5325I |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,409,279 (GRCm39) |
|
probably null |
Het |
| Fancl |
A |
G |
11: 26,419,695 (GRCm39) |
N316S |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,988,060 (GRCm39) |
T683S |
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,871,071 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,201 (GRCm39) |
S1219T |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,489 (GRCm39) |
Y460F |
possibly damaging |
Het |
| Map1b |
C |
T |
13: 99,571,810 (GRCm39) |
V304M |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,384,099 (GRCm39) |
E140G |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,525,988 (GRCm39) |
K843E |
probably damaging |
Het |
| Rap1gds1 |
G |
T |
3: 138,689,632 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
T |
C |
10: 33,785,144 (GRCm39) |
C148R |
probably damaging |
Het |
| Slc7a9 |
A |
T |
7: 35,169,525 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,073,855 (GRCm39) |
S1405P |
probably damaging |
Het |
| Tex35 |
T |
C |
1: 156,927,314 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tpm3 |
T |
A |
3: 89,994,968 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,440,984 (GRCm39) |
D253G |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,841,861 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,918,767 (GRCm39) |
I335T |
probably damaging |
Het |
|
| Other mutations in Gabrd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0006:Gabrd
|
UTSW |
4 |
155,473,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Gabrd
|
UTSW |
4 |
155,469,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Gabrd
|
UTSW |
4 |
155,470,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4387:Gabrd
|
UTSW |
4 |
155,473,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5071:Gabrd
|
UTSW |
4 |
155,471,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Gabrd
|
UTSW |
4 |
155,473,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5818:Gabrd
|
UTSW |
4 |
155,472,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Gabrd
|
UTSW |
4 |
155,470,931 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6301:Gabrd
|
UTSW |
4 |
155,471,724 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7064:Gabrd
|
UTSW |
4 |
155,472,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Gabrd
|
UTSW |
4 |
155,469,863 (GRCm39) |
missense |
probably benign |
|
|
R7426:Gabrd
|
UTSW |
4 |
155,469,970 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7451:Gabrd
|
UTSW |
4 |
155,472,916 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7732:Gabrd
|
UTSW |
4 |
155,470,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7784:Gabrd
|
UTSW |
4 |
155,473,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8500:Gabrd
|
UTSW |
4 |
155,470,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9118:Gabrd
|
UTSW |
4 |
155,470,475 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9153:Gabrd
|
UTSW |
4 |
155,470,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Gabrd
|
UTSW |
4 |
155,472,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation