Incidental Mutation 'R6879:Gabrg3'
| ID |
536557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrg3
|
| Ensembl Gene |
ENSMUSG00000055026 |
| Gene Name |
gamma-aminobutyric acid type A receptor, subunit gamma 3 |
| Synonyms |
Gabrg-3, B230362M20Rik |
| MMRRC Submission |
044975-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57031387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 51
(L51R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068394]
[ENSMUST00000068911]
|
| AlphaFold |
P27681 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068394
AA Change: L51R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065255
Gene: ENSMUSG00000055026
AA Change: L51R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SCOP:d1i9ba_
|
53 |
90 |
9e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068911
AA Change: L51R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: L51R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
47 |
253 |
2.9e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
260 |
461 |
1.4e-39 |
PFAM |
|
| Meta Mutation Damage Score |
0.8183 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
| Agap1 |
A |
T |
1: 89,694,177 (GRCm39) |
I492F |
probably benign |
Het |
| Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
| B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
| Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
| Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
| Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
| Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
| Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
| Il33 |
T |
C |
19: 29,936,362 (GRCm39) |
V224A |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,159 (GRCm39) |
I249V |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,589 (GRCm39) |
M217K |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
| Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
| Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
| Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
| Slc13a3 |
C |
A |
2: 165,272,221 (GRCm39) |
G274V |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,424,836 (GRCm39) |
E812G |
unknown |
Het |
| Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
| Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
| Zfp109 |
C |
T |
7: 23,928,615 (GRCm39) |
E265K |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
probably damaging |
Het |
|
| Other mutations in Gabrg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00782:Gabrg3
|
APN |
7 |
57,031,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01501:Gabrg3
|
APN |
7 |
56,374,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02637:Gabrg3
|
APN |
7 |
56,384,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02707:Gabrg3
|
APN |
7 |
56,632,439 (GRCm39) |
nonsense |
probably null |
|
|
IGL03084:Gabrg3
|
APN |
7 |
56,384,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03237:Gabrg3
|
APN |
7 |
56,632,460 (GRCm39) |
splice site |
probably null |
|
|
IGL03275:Gabrg3
|
APN |
7 |
56,423,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Gabrg3
|
APN |
7 |
56,632,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Gabrg3
|
UTSW |
7 |
57,031,365 (GRCm39) |
nonsense |
probably null |
|
|
R0612:Gabrg3
|
UTSW |
7 |
56,379,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0627:Gabrg3
|
UTSW |
7 |
56,374,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0676:Gabrg3
|
UTSW |
7 |
56,374,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1178:Gabrg3
|
UTSW |
7 |
56,384,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1600:Gabrg3
|
UTSW |
7 |
56,384,822 (GRCm39) |
nonsense |
probably null |
|
|
R1702:Gabrg3
|
UTSW |
7 |
56,634,848 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1836:Gabrg3
|
UTSW |
7 |
56,379,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Gabrg3
|
UTSW |
7 |
56,384,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3816:Gabrg3
|
UTSW |
7 |
57,031,412 (GRCm39) |
nonsense |
probably null |
|
|
R3818:Gabrg3
|
UTSW |
7 |
57,031,412 (GRCm39) |
nonsense |
probably null |
|
|
R3819:Gabrg3
|
UTSW |
7 |
57,031,412 (GRCm39) |
nonsense |
probably null |
|
|
R4905:Gabrg3
|
UTSW |
7 |
56,374,304 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5643:Gabrg3
|
UTSW |
7 |
56,423,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6088:Gabrg3
|
UTSW |
7 |
56,634,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6862:Gabrg3
|
UTSW |
7 |
56,423,059 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7075:Gabrg3
|
UTSW |
7 |
56,973,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7305:Gabrg3
|
UTSW |
7 |
56,384,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7594:Gabrg3
|
UTSW |
7 |
56,632,443 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7793:Gabrg3
|
UTSW |
7 |
56,829,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7886:Gabrg3
|
UTSW |
7 |
56,374,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7989:Gabrg3
|
UTSW |
7 |
56,374,389 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8002:Gabrg3
|
UTSW |
7 |
56,384,716 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8203:Gabrg3
|
UTSW |
7 |
56,423,008 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8875:Gabrg3
|
UTSW |
7 |
56,379,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Gabrg3
|
UTSW |
7 |
56,634,706 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9027:Gabrg3
|
UTSW |
7 |
56,423,122 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9090:Gabrg3
|
UTSW |
7 |
56,829,386 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9229:Gabrg3
|
UTSW |
7 |
56,374,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9271:Gabrg3
|
UTSW |
7 |
56,829,386 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9673:Gabrg3
|
UTSW |
7 |
56,973,422 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9734:Gabrg3
|
UTSW |
7 |
56,634,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTCATTCACTTCAAACTG -3'
(R):5'- AAGATCCTGGGGATTTTCCACC -3'
Sequencing Primer
(F):5'- GTGACAAATACATAAGACCTTGTTGC -3'
(R):5'- GGGATTTTCCACCCATTTTAGAAGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation