Incidental Mutation 'R1763:Gabbr1'
ID 193236
Institutional Source Beutler Lab
Gene Symbol Gabbr1
Ensembl Gene ENSMUSG00000024462
Gene Name gamma-aminobutyric acid (GABA) B receptor, 1
Synonyms GABAB1, GABAbR1
MMRRC Submission 039795-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37045966-37075067 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37054767 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 158 (S158A)
Ref Sequence ENSEMBL: ENSMUSP00000134268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025338] [ENSMUST00000172792] [ENSMUST00000173823] [ENSMUST00000174347]
AlphaFold Q9WV18
Predicted Effect probably damaging
Transcript: ENSMUST00000025338
AA Change: S274A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: S274A

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: S158A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: S158A

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: S113A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462
AA Change: S113A

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 0.4625 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 122,110,681 (GRCm38) V794M probably benign Het
Abca4 A T 3: 122,163,830 (GRCm38) T772S probably damaging Het
Acox3 G A 5: 35,608,339 (GRCm38) probably null Het
Adamts17 A G 7: 67,147,715 (GRCm38) N1060S probably damaging Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Als2 T C 1: 59,174,991 (GRCm38) Y1346C probably benign Het
Apol10b A T 15: 77,585,015 (GRCm38) F321I probably benign Het
Atp5f1 A G 3: 105,951,589 (GRCm38) probably null Het
Bloc1s5 A G 13: 38,619,084 (GRCm38) probably benign Het
Btbd9 T C 17: 30,334,297 (GRCm38) N397S possibly damaging Het
Cacna1d A G 14: 30,099,196 (GRCm38) V1121A probably benign Het
Cad G A 5: 31,060,951 (GRCm38) V460I probably damaging Het
Caprin2 A T 6: 148,843,121 (GRCm38) D935E probably damaging Het
Ccdc150 A T 1: 54,354,636 (GRCm38) K686N probably benign Het
Ccnt2 T C 1: 127,799,406 (GRCm38) F186L possibly damaging Het
Cd5l G A 3: 87,367,880 (GRCm38) probably null Het
Chrna7 A G 7: 63,099,252 (GRCm38) V494A probably benign Het
Clec2i T G 6: 128,895,425 (GRCm38) Y198* probably null Het
Col22a1 A G 15: 72,007,176 (GRCm38) V44A probably damaging Het
Cspg4 T A 9: 56,886,979 (GRCm38) I666N probably damaging Het
Cyp3a16 A T 5: 145,465,031 (GRCm38) probably null Het
Dlk1 G T 12: 109,458,119 (GRCm38) C102F probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 55,080,176 (GRCm38) probably benign Het
Dscc1 T A 15: 55,084,139 (GRCm38) H215L probably damaging Het
Dus1l C G 11: 120,795,671 (GRCm38) G15R probably benign Het
Eps8l1 G T 7: 4,471,823 (GRCm38) V268L probably benign Het
F2 A C 2: 91,634,906 (GRCm38) C104W probably damaging Het
F5 C A 1: 164,192,535 (GRCm38) Q860K probably benign Het
Fmn2 T C 1: 174,502,266 (GRCm38) L74P unknown Het
Frmd6 G A 12: 70,893,622 (GRCm38) R347Q possibly damaging Het
Galc T C 12: 98,234,266 (GRCm38) N295S probably damaging Het
Gm436 A G 4: 144,669,959 (GRCm38) V401A probably benign Het
Gm6408 A T 5: 146,482,322 (GRCm38) N49I probably damaging Het
Grm1 T A 10: 11,079,866 (GRCm38) T225S possibly damaging Het
Grm8 C T 6: 27,285,867 (GRCm38) V849I possibly damaging Het
Hmcn2 A G 2: 31,314,590 (GRCm38) D59G probably damaging Het
Iars G A 13: 49,723,077 (GRCm38) probably null Het
Ifi27 C T 12: 103,437,682 (GRCm38) A127V possibly damaging Het
Ikbip A G 10: 91,096,481 (GRCm38) N329S probably damaging Het
Ikbke T C 1: 131,265,877 (GRCm38) T479A probably benign Het
Krt12 T A 11: 99,416,060 (GRCm38) N472I probably damaging Het
Lmnb2 A T 10: 80,907,191 (GRCm38) L193Q probably damaging Het
Lrriq4 T C 3: 30,650,252 (GRCm38) V128A probably benign Het
Map4k4 C A 1: 40,000,757 (GRCm38) probably benign Het
Mtmr7 T C 8: 40,551,811 (GRCm38) T575A probably benign Het
Myh13 G A 11: 67,334,576 (GRCm38) A256T probably benign Het
Napepld A G 5: 21,683,410 (GRCm38) Y14H probably benign Het
Npr1 T C 3: 90,459,337 (GRCm38) T552A probably damaging Het
Nudt15 A G 14: 73,521,647 (GRCm38) F127S probably benign Het
Nwd2 T A 5: 63,808,271 (GRCm38) S1733T probably benign Het
Olfr1189 A G 2: 88,592,436 (GRCm38) I211V probably benign Het
Olfr1257 G A 2: 89,881,129 (GRCm38) G101E probably damaging Het
Olfr1348 T G 7: 6,501,441 (GRCm38) I262L probably benign Het
Olfr907 A G 9: 38,499,038 (GRCm38) Y123C probably damaging Het
Olfr96 T C 17: 37,225,430 (GRCm38) F102L probably benign Het
Paqr7 A T 4: 134,507,098 (GRCm38) I89F probably benign Het
Pidd1 C A 7: 141,439,630 (GRCm38) V706L probably benign Het
Polr3c A T 3: 96,713,595 (GRCm38) I469N probably damaging Het
Ppip5k1 A G 2: 121,348,547 (GRCm38) Y233H probably damaging Het
Psmc3 A G 2: 91,055,995 (GRCm38) T166A possibly damaging Het
Ptchd3 A T 11: 121,842,542 (GRCm38) I753L probably benign Het
Rad21 T C 15: 51,978,170 (GRCm38) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm38) E479G possibly damaging Het
Rfwd3 C T 8: 111,288,242 (GRCm38) R326Q probably damaging Het
Rgs20 C T 1: 4,910,640 (GRCm38) R154Q probably damaging Het
Sbf1 T C 15: 89,294,425 (GRCm38) D1449G probably damaging Het
Sema4g C T 19: 45,001,605 (GRCm38) R708* probably null Het
Sept9 T C 11: 117,290,428 (GRCm38) I18T probably benign Het
Serpinb6b A G 13: 32,978,058 (GRCm38) E280G probably damaging Het
Slamf6 T C 1: 171,942,587 (GRCm38) probably benign Het
Slc6a21 G A 7: 45,287,734 (GRCm38) W554* probably null Het
Slco1a4 A C 6: 141,812,731 (GRCm38) I518R probably benign Het
Stab1 T A 14: 31,168,416 (GRCm38) Q26L probably benign Het
Stox1 A G 10: 62,667,965 (GRCm38) F104L probably damaging Het
Suco T C 1: 161,834,949 (GRCm38) K638E possibly damaging Het
Synpo T C 18: 60,602,784 (GRCm38) K458E probably damaging Het
Szt2 A T 4: 118,372,368 (GRCm38) W2820R unknown Het
Tmtc1 C A 6: 148,294,618 (GRCm38) G499W probably damaging Het
Tonsl A C 15: 76,638,066 (GRCm38) S242R probably damaging Het
Trpc4 G T 3: 54,194,822 (GRCm38) S47I possibly damaging Het
Zfp106 G A 2: 120,520,428 (GRCm38) R1581C probably benign Het
Zfp27 A G 7: 29,895,376 (GRCm38) L388P possibly damaging Het
Other mutations in Gabbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Gabbr1 APN 17 37,048,443 (GRCm38) nonsense probably null
IGL01309:Gabbr1 APN 17 37,048,607 (GRCm38) critical splice donor site probably null
IGL01413:Gabbr1 APN 17 37,062,706 (GRCm38) missense possibly damaging 0.93
IGL01568:Gabbr1 APN 17 37,070,669 (GRCm38) missense probably damaging 1.00
IGL01845:Gabbr1 APN 17 37,048,414 (GRCm38) splice site probably benign
IGL02083:Gabbr1 APN 17 37,070,065 (GRCm38) missense possibly damaging 0.84
IGL02302:Gabbr1 APN 17 37,054,797 (GRCm38) missense probably damaging 1.00
IGL02430:Gabbr1 APN 17 37,056,308 (GRCm38) nonsense probably null
IGL02533:Gabbr1 APN 17 37,072,147 (GRCm38) missense probably damaging 1.00
IGL02810:Gabbr1 APN 17 37,062,762 (GRCm38) missense probably damaging 1.00
H8562:Gabbr1 UTSW 17 37,071,949 (GRCm38) missense probably damaging 1.00
PIT4449001:Gabbr1 UTSW 17 37,056,350 (GRCm38) missense probably damaging 1.00
R0025:Gabbr1 UTSW 17 37,067,210 (GRCm38) intron probably benign
R0420:Gabbr1 UTSW 17 37,046,762 (GRCm38) missense possibly damaging 0.68
R0464:Gabbr1 UTSW 17 37,050,834 (GRCm38) unclassified probably benign
R1306:Gabbr1 UTSW 17 37,055,990 (GRCm38) splice site probably null
R1412:Gabbr1 UTSW 17 37,054,913 (GRCm38) splice site probably null
R1495:Gabbr1 UTSW 17 37,055,940 (GRCm38) missense possibly damaging 0.68
R1612:Gabbr1 UTSW 17 37,070,669 (GRCm38) missense probably damaging 1.00
R1658:Gabbr1 UTSW 17 37,047,507 (GRCm38) missense probably damaging 0.96
R1779:Gabbr1 UTSW 17 37,054,879 (GRCm38) missense probably damaging 1.00
R1964:Gabbr1 UTSW 17 37,048,459 (GRCm38) missense probably damaging 1.00
R1996:Gabbr1 UTSW 17 37,069,220 (GRCm38) missense probably damaging 1.00
R2014:Gabbr1 UTSW 17 37,056,782 (GRCm38) splice site probably null
R2255:Gabbr1 UTSW 17 37,071,866 (GRCm38) missense probably damaging 1.00
R4299:Gabbr1 UTSW 17 37,055,900 (GRCm38) nonsense probably null
R4458:Gabbr1 UTSW 17 37,067,775 (GRCm38) critical splice acceptor site probably null
R4510:Gabbr1 UTSW 17 37,069,211 (GRCm38) missense probably damaging 1.00
R4511:Gabbr1 UTSW 17 37,069,211 (GRCm38) missense probably damaging 1.00
R4571:Gabbr1 UTSW 17 37,054,236 (GRCm38) nonsense probably null
R4597:Gabbr1 UTSW 17 37,056,899 (GRCm38) missense possibly damaging 0.74
R5109:Gabbr1 UTSW 17 37,072,028 (GRCm38) intron probably benign
R5119:Gabbr1 UTSW 17 37,048,438 (GRCm38) missense probably damaging 0.99
R5227:Gabbr1 UTSW 17 37,070,066 (GRCm38) missense possibly damaging 0.93
R5253:Gabbr1 UTSW 17 37,055,913 (GRCm38) missense possibly damaging 0.87
R5443:Gabbr1 UTSW 17 37,070,756 (GRCm38) missense probably damaging 1.00
R5485:Gabbr1 UTSW 17 37,056,875 (GRCm38) missense possibly damaging 0.83
R5839:Gabbr1 UTSW 17 37,067,868 (GRCm38) missense probably damaging 1.00
R5976:Gabbr1 UTSW 17 37,067,862 (GRCm38) missense probably damaging 1.00
R6156:Gabbr1 UTSW 17 37,048,427 (GRCm38) missense probably benign 0.01
R6167:Gabbr1 UTSW 17 37,063,379 (GRCm38) missense probably damaging 1.00
R6214:Gabbr1 UTSW 17 37,069,365 (GRCm38) missense probably damaging 1.00
R6215:Gabbr1 UTSW 17 37,069,365 (GRCm38) missense probably damaging 1.00
R6348:Gabbr1 UTSW 17 37,056,899 (GRCm38) missense possibly damaging 0.94
R6721:Gabbr1 UTSW 17 37,054,192 (GRCm38) missense probably damaging 0.98
R7028:Gabbr1 UTSW 17 37,064,737 (GRCm38) nonsense probably null
R7317:Gabbr1 UTSW 17 37,069,413 (GRCm38) missense probably damaging 1.00
R7786:Gabbr1 UTSW 17 37,070,063 (GRCm38) missense probably damaging 0.98
R7793:Gabbr1 UTSW 17 37,047,501 (GRCm38) missense probably benign 0.13
R7833:Gabbr1 UTSW 17 37,056,969 (GRCm38) missense possibly damaging 0.88
R8110:Gabbr1 UTSW 17 37,048,583 (GRCm38) missense probably benign 0.10
R8318:Gabbr1 UTSW 17 37,062,543 (GRCm38) missense probably benign 0.23
R8774:Gabbr1 UTSW 17 37,071,857 (GRCm38) missense probably damaging 1.00
R8774-TAIL:Gabbr1 UTSW 17 37,071,857 (GRCm38) missense probably damaging 1.00
R8890:Gabbr1 UTSW 17 37,047,544 (GRCm38) missense probably benign 0.02
R9144:Gabbr1 UTSW 17 37,051,157 (GRCm38) missense probably benign
R9292:Gabbr1 UTSW 17 37,055,892 (GRCm38) missense possibly damaging 0.94
R9359:Gabbr1 UTSW 17 37,070,713 (GRCm38) missense probably damaging 1.00
X0010:Gabbr1 UTSW 17 37,070,780 (GRCm38) missense probably damaging 0.99
Z1177:Gabbr1 UTSW 17 37,048,424 (GRCm38) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- CTGGGTTGAGTAGAAAGCTCATGGC -3'
(R):5'- ATCCAATTCGTGTGTTCCCCAGG -3'

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