Incidental Mutation 'R6156:Gabbr1'
ID 489621
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 044303-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37356888-37385197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37359319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 98 (I98T)
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
AA Change: I98T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: I98T

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
AA Change: I98T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134580
Gene: ENSMUSG00000024462
AA Change: I98T

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
AA Change: I98T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134409
Gene: ENSMUSG00000024462
AA Change: I98T

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T 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
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
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'- TCTGATAGGAATGTGAATACTGGGG -3'
(R):5'- AACCAAGTCTGAGGCAGGTG -3'

Sequencing Primer
(F):5'- AGGATGCTTGTGAACCCA -3'
(R):5'- GTGGTGTAAAGATAGGTTTCACC -3'
Posted On 2017-10-10