Incidental Mutation 'R5043:Gabrp'
| ID |
393311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrp
|
| Ensembl Gene |
ENSMUSG00000020159 |
| Gene Name |
gamma-aminobutyric acid (GABA) A receptor, pi |
| Synonyms |
|
| MMRRC Submission |
042633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
33550781-33578959 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33568072 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 79
(N79D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020366]
[ENSMUST00000135350]
|
| AlphaFold |
Q8QZW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020366
AA Change: N79D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: N79D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
40 |
242 |
1.3e-49 |
PFAM |
|
Pfam:Neur_chan_memb
|
249 |
353 |
5.2e-23 |
PFAM |
|
transmembrane domain
|
420 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135350
|
| SMART Domains |
Protein: ENSMUSP00000120500
Gene: ENSMUSG00000020159
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1200 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 145,044,100 (GRCm38) |
Y106* |
probably null |
Het |
| 1700061G19Rik |
A |
G |
17: 56,885,198 (GRCm38) |
Y587C |
probably damaging |
Het |
| Akap12 |
G |
C |
10: 4,355,047 (GRCm38) |
G619A |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,974,004 (GRCm38) |
K32E |
probably benign |
Het |
| Capg |
T |
A |
6: 72,558,254 (GRCm38) |
Y253* |
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,794,348 (GRCm38) |
F189L |
probably damaging |
Het |
| Cp |
T |
C |
3: 19,973,917 (GRCm38) |
S496P |
probably benign |
Het |
| Cxcl11 |
T |
C |
5: 92,363,152 (GRCm38) |
|
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,527,936 (GRCm38) |
L217P |
probably benign |
Het |
| Dip2c |
G |
T |
13: 9,551,827 (GRCm38) |
R274L |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,884,190 (GRCm38) |
S3776L |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,391,601 (GRCm38) |
T94A |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,492,867 (GRCm38) |
Y397* |
probably null |
Het |
| Glmp |
T |
G |
3: 88,326,676 (GRCm38) |
|
probably benign |
Het |
| Gm12794 |
T |
C |
4: 101,940,524 (GRCm38) |
F40L |
possibly damaging |
Het |
| Gm5921 |
C |
T |
9: 115,438,019 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6483 |
A |
G |
8: 19,693,670 (GRCm38) |
T104A |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,486,718 (GRCm38) |
M52K |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,618,277 (GRCm38) |
|
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,220,172 (GRCm38) |
H288L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,638,153 (GRCm38) |
|
probably null |
Het |
| Nisch |
A |
G |
14: 31,176,465 (GRCm38) |
|
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,066,825 (GRCm38) |
N575S |
probably benign |
Het |
| Olfr354 |
A |
C |
2: 36,906,965 (GRCm38) |
R6S |
probably benign |
Het |
| Olfr913 |
A |
G |
9: 38,594,841 (GRCm38) |
I207V |
probably damaging |
Het |
| Phlda1 |
T |
A |
10: 111,507,291 (GRCm38) |
L296Q |
unknown |
Het |
| Rab36 |
G |
A |
10: 75,051,005 (GRCm38) |
E182K |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,570,368 (GRCm38) |
T767M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,369,465 (GRCm38) |
V24M |
probably damaging |
Het |
| Slc7a14 |
T |
G |
3: 31,237,466 (GRCm38) |
N221T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,929,895 (GRCm38) |
S331P |
possibly damaging |
Het |
| Snx1 |
C |
T |
9: 66,097,436 (GRCm38) |
A183T |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,524,517 (GRCm38) |
T375A |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,197,854 (GRCm38) |
|
probably null |
Het |
| Topaz1 |
A |
T |
9: 122,748,404 (GRCm38) |
E126D |
probably benign |
Het |
| Ugt2b1 |
C |
G |
5: 86,917,644 (GRCm38) |
C512S |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,251,860 (GRCm38) |
W263* |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,798,746 (GRCm38) |
M750K |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,208,465 (GRCm38) |
Q822L |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,700,827 (GRCm38) |
Y1257C |
probably damaging |
Het |
|
| Other mutations in Gabrp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00558:Gabrp
|
APN |
11 |
33,552,644 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01299:Gabrp
|
APN |
11 |
33,554,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01305:Gabrp
|
APN |
11 |
33,555,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01686:Gabrp
|
APN |
11 |
33,552,826 (GRCm38) |
nonsense |
probably null |
|
|
IGL01729:Gabrp
|
APN |
11 |
33,552,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03031:Gabrp
|
APN |
11 |
33,554,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03172:Gabrp
|
APN |
11 |
33,554,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03280:Gabrp
|
APN |
11 |
33,552,616 (GRCm38) |
missense |
probably benign |
0.12 |
|
ANU22:Gabrp
|
UTSW |
11 |
33,555,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0265:Gabrp
|
UTSW |
11 |
33,552,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0326:Gabrp
|
UTSW |
11 |
33,554,362 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1744:Gabrp
|
UTSW |
11 |
33,572,462 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4174:Gabrp
|
UTSW |
11 |
33,568,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5213:Gabrp
|
UTSW |
11 |
33,567,211 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5290:Gabrp
|
UTSW |
11 |
33,567,310 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5665:Gabrp
|
UTSW |
11 |
33,554,308 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R6698:Gabrp
|
UTSW |
11 |
33,557,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8711:Gabrp
|
UTSW |
11 |
33,555,023 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8817:Gabrp
|
UTSW |
11 |
33,554,464 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9188:Gabrp
|
UTSW |
11 |
33,567,252 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9618:Gabrp
|
UTSW |
11 |
33,554,342 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Gabrp
|
UTSW |
11 |
33,552,673 (GRCm38) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTCAATCGGTCACTTCC -3'
(R):5'- ATGTAGATACACCGGCTGCG -3'
Sequencing Primer
(F):5'- AGTCAATCGGTCACTTCCTTTTCTAC -3'
(R):5'- TTCTCAGGTGACCCAGTT -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation