Incidental Mutation 'R7317:Gabbr1'
| ID |
563507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabbr1
|
| Ensembl Gene |
ENSMUSG00000024462 |
| Gene Name |
gamma-aminobutyric acid type B receptor subunit 1 |
| Synonyms |
GABAB1, GABAbR1 |
| MMRRC Submission |
045369-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R7317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37380305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 736
(T736I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025338
AA Change: T736I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: T736I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
CCP
|
29 |
95 |
8.72e0 |
SMART |
|
CCP
|
99 |
156 |
3.03e-10 |
SMART |
|
Pfam:Peripla_BP_6
|
168 |
538 |
1.6e-23 |
PFAM |
|
Pfam:ANF_receptor
|
186 |
542 |
4.3e-73 |
PFAM |
|
Pfam:7tm_3
|
602 |
858 |
9.8e-49 |
PFAM |
|
coiled coil region
|
877 |
922 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172792
AA Change: T620I
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: T620I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
|
Pfam:Peripla_BP_6
|
52 |
428 |
7.8e-24 |
PFAM |
|
Pfam:ANF_receptor
|
70 |
426 |
5.7e-68 |
PFAM |
|
Pfam:7tm_3
|
484 |
743 |
1.1e-50 |
PFAM |
|
coiled coil region
|
761 |
806 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173823
|
| SMART Domains |
Protein: ENSMUSP00000133797
Gene: ENSMUSG00000024462
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Sushi
|
29 |
95 |
1.6e-6 |
PFAM |
|
low complexity region
|
159 |
176 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
PHENOTYPE: Phenotypes of null mice vary depending on strain background and allele. Homozygous null mice may display seizures, premature death, and abnormal nervous system electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,140,202 (GRCm39) |
P832L |
probably benign |
Het |
| Adamts17 |
C |
T |
7: 66,490,304 (GRCm39) |
R129* |
probably null |
Het |
| Alg5 |
G |
T |
3: 54,656,752 (GRCm39) |
R321L |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,486,515 (GRCm39) |
T460S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,537,332 (GRCm39) |
E7G |
possibly damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,110,776 (GRCm39) |
T1000A |
unknown |
Het |
| Arap2 |
G |
A |
5: 62,807,067 (GRCm39) |
T1200M |
probably damaging |
Het |
| Asb2 |
A |
T |
12: 103,299,616 (GRCm39) |
I272N |
probably damaging |
Het |
| Bicd2 |
T |
C |
13: 49,531,784 (GRCm39) |
L342P |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,206 (GRCm39) |
I214F |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,534 (GRCm39) |
H587Q |
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,450,502 (GRCm39) |
I1010F |
possibly damaging |
Het |
| Chd1 |
A |
T |
17: 15,962,536 (GRCm39) |
K764N |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,530 (GRCm39) |
D956G |
possibly damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,730 (GRCm39) |
D243G |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,939,977 (GRCm39) |
V169A |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,544,305 (GRCm39) |
E94G |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,494,624 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
G |
7: 33,963,072 (GRCm39) |
V200A |
probably benign |
Het |
| Gm14496 |
T |
A |
2: 181,637,613 (GRCm39) |
M229K |
possibly damaging |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,040,521 (GRCm39) |
T596A |
probably benign |
Het |
| H1f4 |
A |
G |
13: 23,806,350 (GRCm39) |
I44T |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,438,157 (GRCm39) |
Y358F |
probably damaging |
Het |
| Il18r1 |
A |
T |
1: 40,513,992 (GRCm39) |
Y66F |
possibly damaging |
Het |
| Il18rap |
A |
G |
1: 40,564,536 (GRCm39) |
T189A |
probably damaging |
Het |
| Irag2 |
G |
A |
6: 145,104,424 (GRCm39) |
G164R |
possibly damaging |
Het |
| Itgav |
G |
T |
2: 83,625,327 (GRCm39) |
A771S |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,705,518 (GRCm39) |
V324A |
possibly damaging |
Het |
| Krtap15-1 |
T |
C |
16: 88,626,193 (GRCm39) |
C87R |
probably benign |
Het |
| Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,169,755 (GRCm39) |
D1642G |
probably benign |
Het |
| Med15 |
G |
T |
16: 17,489,507 (GRCm39) |
Q356K |
unknown |
Het |
| Mmp3 |
A |
G |
9: 7,446,937 (GRCm39) |
Y39C |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,849,851 (GRCm39) |
S1149P |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,422,512 (GRCm39) |
I548T |
probably damaging |
Het |
| Noc2l |
T |
A |
4: 156,323,673 (GRCm39) |
V179E |
possibly damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
| Or5k3 |
T |
G |
16: 58,969,684 (GRCm39) |
M157R |
possibly damaging |
Het |
| Or5p64 |
G |
T |
7: 107,854,425 (GRCm39) |
Q307K |
probably benign |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdhb10 |
A |
T |
18: 37,546,079 (GRCm39) |
Q385L |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,592,329 (GRCm39) |
K105R |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,668,875 (GRCm39) |
D582V |
probably damaging |
Het |
| Pheta1 |
A |
T |
5: 121,991,336 (GRCm39) |
T233S |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,223,496 (GRCm39) |
|
probably null |
Het |
| Pigw |
T |
C |
11: 84,768,066 (GRCm39) |
N421S |
probably benign |
Het |
| Plek |
T |
C |
11: 16,944,739 (GRCm39) |
K97R |
probably benign |
Het |
| R3hcc1l |
C |
T |
19: 42,571,979 (GRCm39) |
R753* |
probably null |
Het |
| R3hdml |
G |
A |
2: 163,344,367 (GRCm39) |
W252* |
probably null |
Het |
| Septin12 |
T |
C |
16: 4,809,599 (GRCm39) |
K238E |
probably damaging |
Het |
| Sgce |
G |
A |
6: 4,691,615 (GRCm39) |
T320I |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,854,988 (GRCm39) |
C562* |
probably null |
Het |
| Skint8 |
T |
C |
4: 111,796,717 (GRCm39) |
C274R |
possibly damaging |
Het |
| Slc13a5 |
A |
T |
11: 72,135,953 (GRCm39) |
M529K |
probably damaging |
Het |
| Smg8 |
T |
G |
11: 86,976,391 (GRCm39) |
S397R |
possibly damaging |
Het |
| Spock3 |
G |
T |
8: 63,566,590 (GRCm39) |
R68L |
possibly damaging |
Het |
| Stau2 |
T |
A |
1: 16,530,553 (GRCm39) |
H122L |
unknown |
Het |
| Tent5a |
G |
C |
9: 85,206,670 (GRCm39) |
A376G |
possibly damaging |
Het |
| Tert |
G |
A |
13: 73,790,495 (GRCm39) |
R858H |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,890,211 (GRCm39) |
R658Q |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,672,918 (GRCm39) |
I455T |
probably benign |
Het |
| Tmtc4 |
G |
A |
14: 123,215,593 (GRCm39) |
P18S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,890,959 (GRCm39) |
I1641T |
probably damaging |
Het |
| Trav14-3 |
A |
T |
14: 54,000,951 (GRCm39) |
N54I |
probably damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,495,703 (GRCm39) |
M524K |
probably benign |
Het |
| Unc93a |
A |
G |
17: 13,335,171 (GRCm39) |
F292L |
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,321,851 (GRCm39) |
N248S |
possibly damaging |
Het |
| Usp5 |
A |
G |
6: 124,803,281 (GRCm39) |
L73P |
probably damaging |
Het |
| Utp20 |
T |
A |
10: 88,598,797 (GRCm39) |
I60F |
possibly damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
probably benign |
Het |
|
| Other mutations in Gabbr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Gabbr1
|
APN |
17 |
37,359,335 (GRCm39) |
nonsense |
probably null |
|
|
IGL01309:Gabbr1
|
APN |
17 |
37,359,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01413:Gabbr1
|
APN |
17 |
37,373,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01568:Gabbr1
|
APN |
17 |
37,381,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Gabbr1
|
APN |
17 |
37,359,306 (GRCm39) |
splice site |
probably benign |
|
|
IGL02083:Gabbr1
|
APN |
17 |
37,380,957 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02302:Gabbr1
|
APN |
17 |
37,365,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02430:Gabbr1
|
APN |
17 |
37,367,200 (GRCm39) |
nonsense |
probably null |
|
|
IGL02533:Gabbr1
|
APN |
17 |
37,383,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02810:Gabbr1
|
APN |
17 |
37,373,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Gabbr1
|
UTSW |
17 |
37,382,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Gabbr1
|
UTSW |
17 |
37,367,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Gabbr1
|
UTSW |
17 |
37,378,102 (GRCm39) |
intron |
probably benign |
|
|
R0420:Gabbr1
|
UTSW |
17 |
37,357,654 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0464:Gabbr1
|
UTSW |
17 |
37,361,726 (GRCm39) |
unclassified |
probably benign |
|
|
R1306:Gabbr1
|
UTSW |
17 |
37,366,882 (GRCm39) |
splice site |
probably null |
|
|
R1412:Gabbr1
|
UTSW |
17 |
37,365,805 (GRCm39) |
splice site |
probably null |
|
|
R1495:Gabbr1
|
UTSW |
17 |
37,366,832 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1612:Gabbr1
|
UTSW |
17 |
37,381,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Gabbr1
|
UTSW |
17 |
37,358,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1763:Gabbr1
|
UTSW |
17 |
37,365,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Gabbr1
|
UTSW |
17 |
37,365,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Gabbr1
|
UTSW |
17 |
37,359,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Gabbr1
|
UTSW |
17 |
37,380,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Gabbr1
|
UTSW |
17 |
37,367,674 (GRCm39) |
splice site |
probably null |
|
|
R2255:Gabbr1
|
UTSW |
17 |
37,382,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Gabbr1
|
UTSW |
17 |
37,366,792 (GRCm39) |
nonsense |
probably null |
|
|
R4458:Gabbr1
|
UTSW |
17 |
37,378,667 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4510:Gabbr1
|
UTSW |
17 |
37,380,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Gabbr1
|
UTSW |
17 |
37,380,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4571:Gabbr1
|
UTSW |
17 |
37,365,128 (GRCm39) |
nonsense |
probably null |
|
|
R4597:Gabbr1
|
UTSW |
17 |
37,367,791 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5109:Gabbr1
|
UTSW |
17 |
37,382,920 (GRCm39) |
intron |
probably benign |
|
|
R5119:Gabbr1
|
UTSW |
17 |
37,359,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5227:Gabbr1
|
UTSW |
17 |
37,380,958 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5253:Gabbr1
|
UTSW |
17 |
37,366,805 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5443:Gabbr1
|
UTSW |
17 |
37,381,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5485:Gabbr1
|
UTSW |
17 |
37,367,767 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5839:Gabbr1
|
UTSW |
17 |
37,378,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Gabbr1
|
UTSW |
17 |
37,378,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Gabbr1
|
UTSW |
17 |
37,359,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6167:Gabbr1
|
UTSW |
17 |
37,374,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Gabbr1
|
UTSW |
17 |
37,380,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6215:Gabbr1
|
UTSW |
17 |
37,380,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6348:Gabbr1
|
UTSW |
17 |
37,367,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6721:Gabbr1
|
UTSW |
17 |
37,365,084 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7028:Gabbr1
|
UTSW |
17 |
37,375,629 (GRCm39) |
nonsense |
probably null |
|
|
R7786:Gabbr1
|
UTSW |
17 |
37,380,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7793:Gabbr1
|
UTSW |
17 |
37,358,393 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7833:Gabbr1
|
UTSW |
17 |
37,367,861 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8110:Gabbr1
|
UTSW |
17 |
37,359,475 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8318:Gabbr1
|
UTSW |
17 |
37,373,435 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8774:Gabbr1
|
UTSW |
17 |
37,382,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Gabbr1
|
UTSW |
17 |
37,382,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Gabbr1
|
UTSW |
17 |
37,358,436 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9144:Gabbr1
|
UTSW |
17 |
37,362,049 (GRCm39) |
missense |
probably benign |
|
|
R9292:Gabbr1
|
UTSW |
17 |
37,366,784 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9359:Gabbr1
|
UTSW |
17 |
37,381,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Gabbr1
|
UTSW |
17 |
37,381,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Gabbr1
|
UTSW |
17 |
37,359,316 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACGCAGCCTTTGATCCTAG -3'
(R):5'- AAGTTCTCTCCTGGAGCAGC -3'
Sequencing Primer
(F):5'- CAGCCTTTGATCCTAGGCATAGAG -3'
(R):5'- GGCCTGGAACTCATCATGTAGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation