Incidental Mutation 'R6794:Gabrg1'
| ID |
531661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrg1
|
| Ensembl Gene |
ENSMUSG00000001260 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit gamma 1 |
| Synonyms |
GabaA |
| MMRRC Submission |
044907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
70908390-70999960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70973314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 75
(R75H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031119]
[ENSMUST00000199705]
|
| AlphaFold |
Q9R0Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031119
AA Change: R80H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031119
Gene: ENSMUSG00000001260
AA Change: R80H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
46 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
64 |
270 |
7e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
277 |
378 |
2.3e-36 |
PFAM |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
transmembrane domain
|
441 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199705
AA Change: R75H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142454
Gene: ENSMUSG00000001260
AA Change: R75H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
41 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
59 |
265 |
1.7e-50 |
PFAM |
|
Pfam:Neur_chan_memb
|
272 |
304 |
9.5e-12 |
PFAM |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
transmembrane domain
|
395 |
417 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8385 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
| Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
| Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
| Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
| Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
| Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
| Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
| Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
Het |
|
| Other mutations in Gabrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Gabrg1
|
APN |
5 |
70,973,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00798:Gabrg1
|
APN |
5 |
70,939,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01012:Gabrg1
|
APN |
5 |
70,935,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01597:Gabrg1
|
APN |
5 |
70,939,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Gabrg1
|
APN |
5 |
70,934,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02589:Gabrg1
|
APN |
5 |
70,999,495 (GRCm39) |
nonsense |
probably null |
|
|
IGL03031:Gabrg1
|
APN |
5 |
70,952,025 (GRCm39) |
nonsense |
probably null |
|
|
IGL03346:Gabrg1
|
APN |
5 |
70,935,474 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4260001:Gabrg1
|
UTSW |
5 |
70,939,623 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0197:Gabrg1
|
UTSW |
5 |
70,931,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1271:Gabrg1
|
UTSW |
5 |
70,934,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1795:Gabrg1
|
UTSW |
5 |
70,939,596 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1817:Gabrg1
|
UTSW |
5 |
70,911,594 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1820:Gabrg1
|
UTSW |
5 |
70,931,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Gabrg1
|
UTSW |
5 |
70,939,707 (GRCm39) |
nonsense |
probably null |
|
|
R4566:Gabrg1
|
UTSW |
5 |
70,999,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4768:Gabrg1
|
UTSW |
5 |
70,911,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4976:Gabrg1
|
UTSW |
5 |
70,931,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5104:Gabrg1
|
UTSW |
5 |
70,931,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Gabrg1
|
UTSW |
5 |
70,938,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Gabrg1
|
UTSW |
5 |
70,911,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Gabrg1
|
UTSW |
5 |
70,931,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6234:Gabrg1
|
UTSW |
5 |
70,999,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6724:Gabrg1
|
UTSW |
5 |
70,911,552 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6786:Gabrg1
|
UTSW |
5 |
70,911,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Gabrg1
|
UTSW |
5 |
70,911,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7654:Gabrg1
|
UTSW |
5 |
70,935,504 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7671:Gabrg1
|
UTSW |
5 |
70,973,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7844:Gabrg1
|
UTSW |
5 |
70,931,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Gabrg1
|
UTSW |
5 |
70,973,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8219:Gabrg1
|
UTSW |
5 |
70,931,643 (GRCm39) |
nonsense |
probably null |
|
|
R8998:Gabrg1
|
UTSW |
5 |
70,973,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8999:Gabrg1
|
UTSW |
5 |
70,973,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9132:Gabrg1
|
UTSW |
5 |
70,939,622 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9279:Gabrg1
|
UTSW |
5 |
70,934,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9358:Gabrg1
|
UTSW |
5 |
70,935,422 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9483:Gabrg1
|
UTSW |
5 |
70,999,558 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9506:Gabrg1
|
UTSW |
5 |
70,939,713 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9593:Gabrg1
|
UTSW |
5 |
70,939,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Gabrg1
|
UTSW |
5 |
70,938,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Gabrg1
|
UTSW |
5 |
70,911,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTTTTATAGTACCAGTTGACACAC -3'
(R):5'- TGAACAAGTCTAGGGAGCAATATTC -3'
Sequencing Primer
(F):5'- CACACAACCACATTAAAAGTGTTTG -3'
(R):5'- GACATTCAGTATTTGGTTTAGCATGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation