Incidental Mutation 'IGL01845:Gabbr1'
ID 178219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabbr1
Ensembl Gene ENSMUSG00000024462
Gene Name gamma-aminobutyric acid type B receptor subunit 1
Synonyms GABAB1, GABAbR1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # IGL01845
Quality Score
Status
Chromosome 17
Chromosomal Location 37356888-37385197 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 37359306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025338] [ENSMUST00000172789] [ENSMUST00000172792] [ENSMUST00000173823] [ENSMUST00000174347] [ENSMUST00000174456]
AlphaFold Q9WV18
Predicted Effect probably benign
Transcript: ENSMUST00000025338
SMART Domains Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462

DomainStartEndE-ValueType
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: ENSMUST00000172789
SMART Domains Protein: ENSMUSP00000134580
Gene: ENSMUSG00000024462

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CCP 29 95 8.72e0 SMART
CCP 99 156 3.03e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172792
SMART Domains Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000173564
Predicted Effect probably benign
Transcript: ENSMUST00000173823
SMART Domains Protein: ENSMUSP00000133797
Gene: ENSMUSG00000024462

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sushi 29 95 1.6e-6 PFAM
low complexity region 159 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174347
SMART Domains Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 30 51 N/A INTRINSIC
Pfam:ANF_receptor 102 213 1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174456
SMART Domains Protein: ENSMUSP00000134409
Gene: ENSMUSG00000024462

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CCP 29 95 8.72e0 SMART
CCP 99 156 3.03e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174826
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 15,164,380 (GRCm39) L169P probably damaging Het
4933405L10Rik C A 8: 106,435,567 (GRCm39) A75E probably benign Het
Abca1 A G 4: 53,090,297 (GRCm39) L384P probably damaging Het
Acox2 C A 14: 8,251,617 (GRCm38) M293I probably damaging Het
Acp6 A G 3: 97,081,123 (GRCm39) S288G probably benign Het
Arhgef12 T A 9: 42,934,137 (GRCm39) H127L possibly damaging Het
Arid2 T G 15: 96,254,678 (GRCm39) F175V probably damaging Het
Ccdc15 G A 9: 37,226,532 (GRCm39) Q468* probably null Het
Ccdc93 T C 1: 121,390,859 (GRCm39) I277T probably damaging Het
Cdh8 T C 8: 99,825,586 (GRCm39) probably benign Het
Cdipt T C 7: 126,578,725 (GRCm39) S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 (GRCm39) N268S possibly damaging Het
Clcn3 A T 8: 61,366,129 (GRCm39) N814K probably benign Het
Col6a3 T C 1: 90,724,293 (GRCm39) D2019G probably damaging Het
Corin C A 5: 72,511,282 (GRCm39) G432C probably damaging Het
Crppa A G 12: 36,597,918 (GRCm39) R350G probably benign Het
Cyld C T 8: 89,432,403 (GRCm39) Q134* probably null Het
Dhh C A 15: 98,795,864 (GRCm39) R97L probably damaging Het
Dnah5 T C 15: 28,449,315 (GRCm39) V4239A probably benign Het
Dock2 T C 11: 34,599,692 (GRCm39) I296V probably benign Het
Gbp10 T C 5: 105,367,815 (GRCm39) probably null Het
Itgam T A 7: 127,711,644 (GRCm39) L753Q probably damaging Het
Kbtbd12 A G 6: 88,590,922 (GRCm39) V430A probably benign Het
Kdm4a A G 4: 118,017,656 (GRCm39) V470A possibly damaging Het
Larp1b A T 3: 40,924,960 (GRCm39) T146S probably benign Het
Lrrfip2 T A 9: 111,028,728 (GRCm39) probably benign Het
Mier2 A T 10: 79,385,418 (GRCm39) C137S possibly damaging Het
Morc3 A G 16: 93,657,455 (GRCm39) Y393C probably damaging Het
Ms4a7 A T 19: 11,299,751 (GRCm39) M217K possibly damaging Het
Msl1 A G 11: 98,696,191 (GRCm39) probably null Het
Myh2 A G 11: 67,083,860 (GRCm39) E1546G probably benign Het
Nlgn2 A G 11: 69,716,675 (GRCm39) L622P possibly damaging Het
Oga T A 19: 45,756,301 (GRCm39) E447D probably benign Het
Or10q3 A G 19: 11,847,888 (GRCm39) S231P probably benign Het
Or1e33 A G 11: 73,738,298 (GRCm39) Y218H probably damaging Het
Or1j11 A C 2: 36,312,105 (GRCm39) K232Q probably benign Het
Or56b1b T A 7: 108,164,343 (GRCm39) I220L possibly damaging Het
Or5k17 T C 16: 58,746,929 (GRCm39) M2V probably benign Het
Phf20 C A 2: 156,118,577 (GRCm39) S427* probably null Het
Pirt G A 11: 66,816,794 (GRCm39) S35N probably damaging Het
Prss28 C A 17: 25,529,011 (GRCm39) N117K possibly damaging Het
Rbbp8nl A G 2: 179,925,104 (GRCm39) C34R probably damaging Het
Rtn3 A T 19: 7,435,241 (GRCm39) D231E probably damaging Het
Sema5a T C 15: 32,474,514 (GRCm39) probably benign Het
Sh3bp2 T A 5: 34,713,347 (GRCm39) L196Q probably damaging Het
Slc26a9 G T 1: 131,685,256 (GRCm39) D325Y probably damaging Het
Slc4a1 A G 11: 102,244,729 (GRCm39) V622A probably benign Het
Thbd A G 2: 148,249,016 (GRCm39) V284A probably benign Het
Tmc5 T C 7: 118,251,733 (GRCm39) F609L possibly damaging Het
Tnr T C 1: 159,695,576 (GRCm39) probably benign Het
Ttc17 A T 2: 94,163,177 (GRCm39) Y881* probably null Het
Ttc41 A T 10: 86,612,488 (GRCm39) T1254S probably benign Het
Ttn C T 2: 76,640,347 (GRCm39) D13754N probably damaging Het
Vmn2r16 T A 5: 109,511,762 (GRCm39) F656L probably damaging Het
Wdr19 A G 5: 65,382,709 (GRCm39) I478V probably damaging Het
Zan T C 5: 137,379,116 (GRCm39) probably benign Het
Zp2 T A 7: 119,737,414 (GRCm39) D258V probably damaging Het
Other mutations in Gabbr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7317:Gabbr1 UTSW 17 37,380,305 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07