Incidental Mutation 'R1779:Gabbr1'
ID 197396
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 039810-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R1779 (G1)
Quality Score 206
Status Validated
Chromosome 17
Chromosomal Location 37356888-37385197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37365771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 150 (I150N)
Ref Sequence ENSEMBL: ENSMUSP00000134346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025338] [ENSMUST00000172792] [ENSMUST00000173823] [ENSMUST00000174347]
AlphaFold Q9WV18
Predicted Effect probably damaging
Transcript: ENSMUST00000025338
AA Change: I311N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: I311N

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 damaging
Transcript: ENSMUST00000172792
AA Change: I195N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: I195N

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 damaging
Transcript: ENSMUST00000174347
AA Change: I150N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462
AA Change: I150N

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 noncoding transcript
Transcript: ENSMUST00000174866
Meta Mutation Damage Score 0.9525 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 97% (101/104)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,200,163 (GRCm39) L476F probably damaging Het
4930432E11Rik A T 7: 29,278,591 (GRCm39) noncoding transcript Het
A930011G23Rik A T 5: 99,370,897 (GRCm39) probably benign Het
Abcd3 A G 3: 121,575,612 (GRCm39) Y217H probably damaging Het
Abraxas1 A T 5: 100,965,822 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,523,346 (GRCm39) Y427C probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam10 T A 9: 70,683,651 (GRCm39) probably benign Het
Adam24 G A 8: 41,134,004 (GRCm39) V491I possibly damaging Het
Adamts2 T G 11: 50,647,524 (GRCm39) V299G probably damaging Het
Adh7 A G 3: 137,929,752 (GRCm39) T143A probably damaging Het
Ahcyl1 A G 3: 107,581,419 (GRCm39) S81P probably benign Het
Arhgap20 C A 9: 51,761,215 (GRCm39) T986K probably benign Het
Atp13a5 A T 16: 29,133,478 (GRCm39) I391N possibly damaging Het
Atp6v0a1 C A 11: 100,917,511 (GRCm39) A143E probably benign Het
Calcrl A G 2: 84,181,629 (GRCm39) I173T probably damaging Het
Casz1 A G 4: 149,017,394 (GRCm39) T228A probably benign Het
Cckar A G 5: 53,857,321 (GRCm39) I292T probably damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cfhr2 T A 1: 139,786,383 (GRCm39) probably null Het
Chkb T C 15: 89,313,260 (GRCm39) I109V possibly damaging Het
Clec2i T C 6: 128,865,069 (GRCm39) probably null Het
Clec4a4 T A 6: 123,000,934 (GRCm39) W216R probably damaging Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cp C A 3: 20,011,549 (GRCm39) D34E possibly damaging Het
Cse1l T C 2: 166,782,044 (GRCm39) probably null Het
Dennd3 T C 15: 73,394,357 (GRCm39) probably null Het
Dnah7a A G 1: 53,616,382 (GRCm39) V1193A probably benign Het
Eaf2 A G 16: 36,630,832 (GRCm39) probably null Het
Efcab3 T A 11: 104,611,765 (GRCm39) S536T probably benign Het
Ephb2 T C 4: 136,421,136 (GRCm39) T405A possibly damaging Het
Fam117a G A 11: 95,269,779 (GRCm39) V348M probably damaging Het
Fh1 T C 1: 175,428,990 (GRCm39) *167W probably null Het
Fmo9 T A 1: 166,490,868 (GRCm39) I486F probably benign Het
Gfpt1 T C 6: 87,054,179 (GRCm39) V478A possibly damaging Het
Gm2663 A T 6: 40,974,894 (GRCm39) V59E probably damaging Het
Gm4868 T A 5: 125,925,176 (GRCm39) noncoding transcript Het
Heatr4 T A 12: 84,026,934 (GRCm39) T108S probably benign Het
Hells G T 19: 38,935,286 (GRCm39) A319S probably benign Het
Helz2 A G 2: 180,876,780 (GRCm39) V1238A probably benign Het
Helz2 T A 2: 180,880,252 (GRCm39) Q488L possibly damaging Het
Hkdc1 A G 10: 62,227,162 (GRCm39) F765S probably damaging Het
Hspg2 T A 4: 137,245,820 (GRCm39) W938R probably damaging Het
Itpr2 G A 6: 146,060,399 (GRCm39) R2473* probably null Het
Kctd1 C T 18: 15,194,839 (GRCm39) V595I probably benign Het
Krt7 A G 15: 101,321,290 (GRCm39) Y369C probably damaging Het
Krt72 T C 15: 101,689,364 (GRCm39) T323A probably benign Het
Krt76 A G 15: 101,801,122 (GRCm39) L58P unknown Het
Liph C A 16: 21,786,800 (GRCm39) R272L probably benign Het
Lrrc9 A T 12: 72,502,772 (GRCm39) K248* probably null Het
Mei4 T A 9: 81,809,195 (GRCm39) S93T probably damaging Het
Mgll T A 6: 88,790,930 (GRCm39) Y183* probably null Het
Myo5b A G 18: 74,875,218 (GRCm39) M1541V probably benign Het
Napg A G 18: 63,115,762 (GRCm39) E66G probably benign Het
Npr3 T C 15: 11,851,572 (GRCm39) D406G probably damaging Het
Nr2c2 A G 6: 92,136,224 (GRCm39) T355A possibly damaging Het
Or13j1 G A 4: 43,706,041 (GRCm39) H176Y probably damaging Het
Or4a71 A T 2: 89,357,989 (GRCm39) I255K probably benign Het
Or51m1 G T 7: 103,578,668 (GRCm39) V213L probably benign Het
Or51v8 A G 7: 103,319,845 (GRCm39) I131T probably benign Het
Or52z13 A T 7: 103,247,107 (GRCm39) I195F probably damaging Het
Or5b107 T C 19: 13,142,404 (GRCm39) Y9H probably benign Het
Or8d1 A G 9: 38,766,846 (GRCm39) M163V possibly damaging Het
Orai2 T C 5: 136,179,793 (GRCm39) E80G probably damaging Het
Pcdhb14 T A 18: 37,582,535 (GRCm39) V547E probably damaging Het
Pcdhb15 T C 18: 37,609,084 (GRCm39) I772T possibly damaging Het
Pcnt T C 10: 76,244,630 (GRCm39) Q1150R probably damaging Het
Pdcd6 A G 13: 74,453,700 (GRCm39) I146T probably damaging Het
Phldb2 T A 16: 45,621,988 (GRCm39) D664V probably damaging Het
Pik3ap1 A T 19: 41,320,673 (GRCm39) V182E probably damaging Het
Pip4k2a A G 2: 18,852,433 (GRCm39) V283A probably benign Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Pnpla6 T C 8: 3,591,404 (GRCm39) W1151R probably damaging Het
Ppp1r14c A G 10: 3,316,890 (GRCm39) Y75C probably damaging Het
Prl2b1 C T 13: 27,567,452 (GRCm39) D224N probably benign Het
Ptgis A G 2: 167,056,778 (GRCm39) S270P probably benign Het
Rgs11 C A 17: 26,429,640 (GRCm39) A446D probably damaging Het
Rims2 A G 15: 39,545,098 (GRCm39) T1531A probably damaging Het
Sbno1 A T 5: 124,526,580 (GRCm39) probably benign Het
Scarb2 C G 5: 92,596,416 (GRCm39) M409I probably benign Het
Scube3 C T 17: 28,387,353 (GRCm39) probably benign Het
Slc44a4 T C 17: 35,140,901 (GRCm39) I180T probably damaging Het
Slc9a2 T C 1: 40,781,803 (GRCm39) M344T probably damaging Het
Smc3 A T 19: 53,627,800 (GRCm39) T860S probably benign Het
Snrpa A G 7: 26,891,174 (GRCm39) I99T probably benign Het
Sorcs1 A G 19: 50,163,481 (GRCm39) probably benign Het
Sorl1 C T 9: 41,902,778 (GRCm39) probably null Het
Suds3 T C 5: 117,243,309 (GRCm39) K143R probably benign Het
Supt20 A T 3: 54,622,164 (GRCm39) M424L probably benign Het
Tgtp2 T C 11: 48,949,751 (GRCm39) M274V probably benign Het
Tmem158 T A 9: 123,088,974 (GRCm39) M213L probably benign Het
Tnks C A 8: 35,324,672 (GRCm39) R639L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt10c A C 16: 55,854,938 (GRCm39) N232K possibly damaging Het
Trpm6 C T 19: 18,833,581 (GRCm39) R1587W probably damaging Het
Trrap G A 5: 144,765,400 (GRCm39) V2539I probably benign Het
Tsg101 A G 7: 46,556,835 (GRCm39) S115P probably benign Het
Ttll13 G T 7: 79,910,256 (GRCm39) V800L probably benign Het
Vmn1r57 A G 7: 5,223,576 (GRCm39) T34A possibly damaging Het
Vmn2r118 T A 17: 55,918,530 (GRCm39) T121S probably benign Het
Wdr35 A G 12: 9,035,772 (GRCm39) I238M possibly damaging Het
Zfp81 T A 17: 33,554,080 (GRCm39) T245S probably benign Het
Zfyve26 G T 12: 79,325,237 (GRCm39) P824Q 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
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
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
Predicted Primers PCR Primer
(F):5'- TCAGTTTGCACGGACACTTCCC -3'
(R):5'- AGGCACTGGAATCCACTACTTCCC -3'

Sequencing Primer
(F):5'- GGACACTTCCCCTTCTTCTG -3'
(R):5'- GTCCTATCTGTCTGGGGAACAAATC -3'
Posted On 2014-05-23