Incidental Mutation 'R1612:Gabbr1'
ID 176896
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 039649-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R1612 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37356888-37385197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37381561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 775 (Y775C)
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: Y775C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: Y775C

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: ENSMUST00000172792
AA Change: Y659C

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: Y659C

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 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 noncoding transcript
Transcript: ENSMUST00000174071
Meta Mutation Damage Score 0.4358 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (69/71)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
Actb A G 5: 142,891,350 (GRCm39) F31S probably damaging Het
Adamts7 T C 9: 90,070,750 (GRCm39) S624P possibly damaging Het
Adh7 T C 3: 137,934,642 (GRCm39) I355T possibly damaging Het
Arhgef40 A G 14: 52,241,538 (GRCm39) E106G probably damaging Het
Brd10 A G 19: 29,695,245 (GRCm39) V1483A possibly damaging Het
Cabp7 T C 11: 4,689,198 (GRCm39) D149G probably damaging Het
Cass4 A T 2: 172,268,998 (GRCm39) Q362L possibly damaging Het
Cd14 G A 18: 36,858,718 (GRCm39) Q246* probably null Het
Cdr2l A C 11: 115,284,232 (GRCm39) E189D probably benign Het
Col6a6 A G 9: 105,654,748 (GRCm39) V991A probably damaging Het
Coq7 A G 7: 118,109,134 (GRCm39) W305R unknown Het
Cracr2a G T 6: 127,580,892 (GRCm39) G23* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Epcam T C 17: 87,947,366 (GRCm39) L40P possibly damaging Het
Eps8 G A 6: 137,477,616 (GRCm39) P531S probably benign Het
Faap100 C A 11: 120,267,914 (GRCm39) L286F probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbn2 A T 18: 58,194,824 (GRCm39) C1446S probably damaging Het
Fmo3 A G 1: 162,795,454 (GRCm39) V127A probably damaging Het
Frem3 A G 8: 81,341,490 (GRCm39) D1261G probably damaging Het
Gbp11 G T 5: 105,474,462 (GRCm39) Q405K possibly damaging Het
Gdi2 T A 13: 3,610,051 (GRCm39) V260E probably benign Het
Glp2r C T 11: 67,633,033 (GRCm39) V98M possibly damaging Het
Gm13741 T C 2: 87,486,431 (GRCm39) Y278C probably damaging Het
Gm7732 G A 17: 21,350,177 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,264,344 (GRCm39) probably null Het
Hbs1l T G 10: 21,234,734 (GRCm39) F596V probably damaging Het
Krt78 A T 15: 101,860,279 (GRCm39) probably null Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Lcmt2 T C 2: 120,969,601 (GRCm39) Y274C probably damaging Het
Limd1 A G 9: 123,347,219 (GRCm39) Y620C probably damaging Het
Lvrn G T 18: 47,027,770 (GRCm39) A862S probably damaging Het
Map4k2 A G 19: 6,393,371 (GRCm39) E206G probably damaging Het
Med16 A G 10: 79,735,079 (GRCm39) S461P probably damaging Het
Mrfap1 C A 5: 36,953,706 (GRCm39) A78S probably damaging Het
Nav2 T A 7: 49,220,959 (GRCm39) N1715K probably damaging Het
Ndc1 A G 4: 107,252,265 (GRCm39) probably benign Het
Ngly1 G T 14: 16,290,867 (GRCm38) G450* probably null Het
Or13c25 T A 4: 52,911,501 (GRCm39) M98L probably benign Het
Or5k3 T C 16: 58,969,987 (GRCm39) M258T probably benign Het
Pde3b T A 7: 114,118,791 (GRCm39) Y643* probably null Het
Pdilt T G 7: 119,086,198 (GRCm39) N506H possibly damaging Het
Pear1 C T 3: 87,659,160 (GRCm39) probably null Het
Pfkp A T 13: 6,638,625 (GRCm39) M582K probably damaging Het
Pigl T A 11: 62,403,820 (GRCm39) F251I probably benign Het
Plk3 A G 4: 116,989,004 (GRCm39) Y252H probably damaging Het
Prdx3 A G 19: 60,862,872 (GRCm39) S12P possibly damaging Het
Prkag2 T C 5: 25,082,026 (GRCm39) I96V probably benign Het
Pwwp3a T A 10: 80,068,889 (GRCm39) probably benign Het
Rgs3 G A 4: 62,544,172 (GRCm39) V146M probably damaging Het
Serpinh1 T C 7: 98,998,138 (GRCm39) D164G probably damaging Het
Slc35d2 T C 13: 64,259,324 (GRCm39) probably benign Het
Slc6a6 A G 6: 91,718,008 (GRCm39) N316D probably damaging Het
Snx14 A T 9: 88,258,958 (GRCm39) M973K possibly damaging Het
Sptan1 C G 2: 29,893,348 (GRCm39) R1126G probably damaging Het
Stpg3 T C 2: 25,103,866 (GRCm39) T157A probably benign Het
Tmem39b A T 4: 129,580,715 (GRCm39) M259K possibly damaging Het
Tomm40l A T 1: 171,049,471 (GRCm39) probably null Het
Tsen34 G T 7: 3,698,395 (GRCm39) G180W probably damaging Het
Ube2l6 C T 2: 84,636,717 (GRCm39) R54W probably damaging Het
Vdac1 A T 11: 52,274,897 (GRCm39) T182S probably benign Het
Wdr3 T C 3: 100,058,515 (GRCm39) probably benign Het
Wsb1 T A 11: 79,139,411 (GRCm39) Q95L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGCCAGCTCCTGAAAGTAAGTGAC -3'
(R):5'- ATGGCCCATTTCCAGGACCAAC -3'

Sequencing Primer
(F):5'- TTCTAGCCGCTCCATAGGAAG -3'
(R):5'- CCAACGCCAGGTGTCAAG -3'
Posted On 2014-04-24