Incidental Mutation 'R4597:Gabbr1'
ID 344475
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 041813-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R4597 (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 37367791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 414 (M414V)
Ref Sequence ENSEMBL: ENSMUSP00000025338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025338] [ENSMUST00000172792] [ENSMUST00000173823] [ENSMUST00000174347]
AlphaFold Q9WV18
Predicted Effect possibly damaging
Transcript: ENSMUST00000025338
AA Change: M414V

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: M414V

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 possibly damaging
Transcript: ENSMUST00000172792
AA Change: M298V

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: M298V

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 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 noncoding transcript
Transcript: ENSMUST00000174866
Meta Mutation Damage Score 0.2005 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (67/70)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik T A 2: 103,856,500 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,214 (GRCm39) M229K possibly damaging Het
Adh5 T C 3: 138,151,118 (GRCm39) V27A probably damaging Het
Ank2 A T 3: 126,781,800 (GRCm39) D843E probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arid2 A G 15: 96,268,737 (GRCm39) N950S probably damaging Het
Arl1 A T 10: 88,566,608 (GRCm39) probably benign Het
Bcl3 T G 7: 19,546,428 (GRCm39) I136L probably damaging Het
Car9 T A 4: 43,509,138 (GRCm39) S235R probably damaging Het
Carnmt1 G T 19: 18,648,451 (GRCm39) G30W probably damaging Het
Casp12 C T 9: 5,348,941 (GRCm39) T101I possibly damaging Het
Cdh23 A G 10: 60,244,823 (GRCm39) L1026P probably damaging Het
Clec10a A T 11: 70,060,806 (GRCm39) Y186F probably damaging Het
Col22a1 G T 15: 71,836,511 (GRCm39) A508E possibly damaging Het
Crocc G C 4: 140,747,088 (GRCm39) S1573R probably damaging Het
Cttnbp2nl G T 3: 104,913,191 (GRCm39) T231K possibly damaging Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Ehbp1l1 T C 19: 5,767,955 (GRCm39) E1116G possibly damaging Het
Fam83d T C 2: 158,627,142 (GRCm39) V277A possibly damaging Het
Fga G T 3: 82,938,542 (GRCm39) G306* probably null Het
Fkbp9 A G 6: 56,809,367 (GRCm39) Y59C probably damaging Het
Frmpd1 A G 4: 45,274,441 (GRCm39) T450A probably benign Het
Gm16506 A G 14: 43,962,572 (GRCm39) F112L unknown Het
Gm27047 T C 6: 130,607,299 (GRCm39) noncoding transcript Het
Gm4353 T A 7: 115,682,847 (GRCm39) K245* probably null Het
Gm4950 A T 18: 51,998,865 (GRCm39) I30N probably benign Het
H1f5 A T 13: 21,964,681 (GRCm39) V15E probably damaging Het
H2-M10.2 T C 17: 36,596,285 (GRCm39) T187A probably benign Het
H60c A T 10: 3,209,968 (GRCm39) N106K possibly damaging Het
Hoxa6 T C 6: 52,185,387 (GRCm39) probably null Het
Ighv1-74 A G 12: 115,766,276 (GRCm39) C115R probably damaging Het
Il17a G A 1: 20,801,217 (GRCm39) probably null Het
Itga9 T C 9: 118,672,582 (GRCm39) Y199H probably damaging Het
Itpr3 C T 17: 27,312,257 (GRCm39) R554C probably damaging Het
Kcnc3 T A 7: 44,245,240 (GRCm39) M510K probably damaging Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kif26b A T 1: 178,744,358 (GRCm39) S1485C probably damaging Het
Klhl2 C A 8: 65,207,421 (GRCm39) G313W probably damaging Het
Klhl32 C T 4: 24,629,339 (GRCm39) S476N probably benign Het
Krt1 C T 15: 101,756,063 (GRCm39) E386K possibly damaging Het
Lats1 T C 10: 7,567,510 (GRCm39) S94P probably benign Het
Ltf G A 9: 110,852,001 (GRCm39) C146Y probably damaging Het
Mars1 A G 10: 127,136,322 (GRCm39) L501P probably damaging Het
Myh2 A C 11: 67,080,244 (GRCm39) I1153L probably benign Het
Ncstn A T 1: 171,895,823 (GRCm39) Y522* probably null Het
Nipal4 A G 11: 46,042,156 (GRCm39) V175A probably damaging Het
Or7e169 T C 9: 19,756,987 (GRCm39) I309M probably benign Het
Pcdha1 C G 18: 37,064,959 (GRCm39) A541G possibly damaging Het
Pex11g A G 8: 3,514,043 (GRCm39) Y40H probably damaging Het
Pira13 T A 7: 3,825,154 (GRCm39) Y496F possibly damaging Het
Qrfprl T C 6: 65,424,408 (GRCm39) probably null Het
Rin2 G T 2: 145,702,825 (GRCm39) R507L probably benign Het
Sh2b2 T C 5: 136,260,616 (GRCm39) D200G probably damaging Het
Smg7 C A 1: 152,716,052 (GRCm39) probably null Het
Snx17 T C 5: 31,355,857 (GRCm39) probably benign Het
Sos1 T C 17: 80,741,255 (GRCm39) Y510C probably benign Het
Spata31d1c T A 13: 65,183,427 (GRCm39) L323* probably null Het
Supt16 C T 14: 52,411,046 (GRCm39) G686D probably damaging Het
Szt2 C T 4: 118,229,878 (GRCm39) R2751H unknown Het
Tnfsf8 A G 4: 63,755,337 (GRCm39) L95P probably damaging Het
Vmn2r17 A G 5: 109,577,428 (GRCm39) H493R probably benign Het
Zfp770 C T 2: 114,027,251 (GRCm39) A273T possibly 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
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
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'- TAATGAGCTAACACTACTTGCCC -3'
(R):5'- CTCTCTCGCCCAAGGAAATC -3'

Sequencing Primer
(F):5'- GCTAACACTACTTGCCCCAGAAC -3'
(R):5'- TGACGCAAACAAGCTCAAGATG -3'
Posted On 2015-09-25