Incidental Mutation 'R5290:Gabrp'
ID 424668
Institutional Source Beutler Lab
Gene Symbol Gabrp
Ensembl Gene ENSMUSG00000020159
Gene Name gamma-aminobutyric acid type A receptor subunit pi
MMRRC Submission 042873-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5290 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 33500781-33528959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33517310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 121 (Y121N)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366]
AlphaFold Q8QZW7
Predicted Effect probably damaging
Transcript: ENSMUST00000020366
AA Change: Y121N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: Y121N

signal peptide 1 23 N/A INTRINSIC
Pfam:Neur_chan_LBD 40 242 1.3e-49 PFAM
Pfam:Neur_chan_memb 249 353 5.2e-23 PFAM
transmembrane domain 420 437 N/A INTRINSIC
Meta Mutation Damage Score 0.6407 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik A T 16: 90,351,098 (GRCm39) noncoding transcript Het
2700049A03Rik C A 12: 71,235,565 (GRCm39) P1172T probably benign Het
Abi3bp T A 16: 56,462,838 (GRCm39) probably null Het
Apod T A 16: 31,129,884 (GRCm39) H24L probably damaging Het
Arfgef3 T C 10: 18,476,208 (GRCm39) E1537G probably damaging Het
B020004C17Rik T C 14: 57,254,036 (GRCm39) V53A possibly damaging Het
Ccdc113 C A 8: 96,267,424 (GRCm39) probably null Het
Cd7 T G 11: 120,928,936 (GRCm39) D105A probably damaging Het
Celsr3 C T 9: 108,720,357 (GRCm39) T2550M probably benign Het
Cibar1 T C 4: 12,171,195 (GRCm39) Q86R probably benign Het
Col6a5 C T 9: 105,823,282 (GRCm39) G25D unknown Het
Cps1 A G 1: 67,211,868 (GRCm39) M679V probably benign Het
Dnai4 A T 4: 102,906,730 (GRCm39) D694E probably benign Het
Dync1h1 A T 12: 110,581,502 (GRCm39) T316S probably benign Het
Edrf1 T C 7: 133,252,295 (GRCm39) Y449H probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Flg2 A T 3: 93,127,873 (GRCm39) I2262L unknown Het
Flnc T C 6: 29,457,553 (GRCm39) L2417P probably damaging Het
Gdpd4 A G 7: 97,615,543 (GRCm39) T123A possibly damaging Het
Gpr162 C A 6: 124,838,232 (GRCm39) M139I probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Gsn G A 2: 35,186,484 (GRCm39) S410N probably benign Het
Gtf2f2 T C 14: 76,135,089 (GRCm39) Y212C probably damaging Het
Hao2 C T 3: 98,784,493 (GRCm39) A291T probably damaging Het
Igkv1-133 A G 6: 67,702,563 (GRCm39) T94A possibly damaging Het
Irf2bp1 G A 7: 18,738,923 (GRCm39) A188T possibly damaging Het
Itpr1 T C 6: 108,383,106 (GRCm39) V1478A possibly damaging Het
Kdm5b T C 1: 134,549,837 (GRCm39) probably null Het
Kif5b A T 18: 6,234,882 (GRCm39) D49E probably damaging Het
Lmbr1l A G 15: 98,810,123 (GRCm39) W113R probably damaging Het
Lrp2 T C 2: 69,343,698 (GRCm39) D887G probably damaging Het
Lrrc14 T A 15: 76,598,143 (GRCm39) M291K probably benign Het
Lypd11 T C 7: 24,422,836 (GRCm39) E79G probably benign Het
Mgarp G A 3: 51,296,387 (GRCm39) A205V possibly damaging Het
Msl2 T C 9: 100,978,606 (GRCm39) probably null Het
Nfix G A 8: 85,440,406 (GRCm39) Q487* probably null Het
Notch4 T C 17: 34,784,263 (GRCm39) V22A probably benign Het
Npc1l1 T A 11: 6,172,221 (GRCm39) Q823L probably benign Het
Obox3 T C 7: 15,360,774 (GRCm39) K122E probably benign Het
Or10ab5 C T 7: 108,245,755 (GRCm39) M9I probably benign Het
Or2a12 A G 6: 42,904,972 (GRCm39) K269R probably damaging Het
Or8s10 T C 15: 98,336,213 (GRCm39) Y288H probably damaging Het
Plekhh3 T A 11: 101,057,397 (GRCm39) M287L possibly damaging Het
Prpf3 A T 3: 95,760,857 (GRCm39) I15K probably benign Het
Rpl12-ps1 G T 1: 36,997,423 (GRCm39) noncoding transcript Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Setd2 T C 9: 110,446,899 (GRCm39) V2489A probably damaging Het
Slfn10-ps T A 11: 82,919,851 (GRCm39) noncoding transcript Het
Smad2 C T 18: 76,395,795 (GRCm39) P78L probably damaging Het
Spen G A 4: 141,201,127 (GRCm39) T2500I probably damaging Het
Stmnd1 A G 13: 46,453,074 (GRCm39) D250G probably benign Het
Tjp2 T G 19: 24,108,568 (GRCm39) E181D probably benign Het
Tmem131l T C 3: 83,806,572 (GRCm39) D1478G probably benign Het
Trim72 G T 7: 127,609,176 (GRCm39) R326L probably benign Het
Ttn A T 2: 76,727,584 (GRCm39) probably benign Het
Vmn1r177 A T 7: 23,565,498 (GRCm39) M126K probably damaging Het
Vmn1r57 A G 7: 5,224,319 (GRCm39) I281M probably damaging Het
Vmn2r108 C A 17: 20,691,665 (GRCm39) R286L probably benign Het
Wdr25 T C 12: 108,863,968 (GRCm39) S38P probably benign Het
Zfp937 T A 2: 150,080,229 (GRCm39) Y86* probably null Het
Zfr2 CTCAGACTGGTGTCAGAC CTCAGAC 10: 81,082,544 (GRCm39) probably null Het
Zswim1 C T 2: 164,667,845 (GRCm39) H366Y probably damaging Het
Other mutations in Gabrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Gabrp APN 11 33,502,644 (GRCm39) missense possibly damaging 0.91
IGL01299:Gabrp APN 11 33,504,476 (GRCm39) missense probably damaging 1.00
IGL01305:Gabrp APN 11 33,505,055 (GRCm39) missense probably damaging 1.00
IGL01686:Gabrp APN 11 33,502,826 (GRCm39) nonsense probably null
IGL01729:Gabrp APN 11 33,502,689 (GRCm39) missense probably damaging 1.00
IGL03031:Gabrp APN 11 33,504,980 (GRCm39) missense probably damaging 1.00
IGL03172:Gabrp APN 11 33,504,388 (GRCm39) missense probably damaging 1.00
IGL03280:Gabrp APN 11 33,502,616 (GRCm39) missense probably benign 0.12
ANU22:Gabrp UTSW 11 33,505,055 (GRCm39) missense probably damaging 1.00
R0265:Gabrp UTSW 11 33,502,614 (GRCm39) missense probably damaging 1.00
R0326:Gabrp UTSW 11 33,504,362 (GRCm39) missense probably damaging 0.99
R1744:Gabrp UTSW 11 33,522,462 (GRCm39) missense probably benign 0.03
R4174:Gabrp UTSW 11 33,518,092 (GRCm39) missense probably damaging 1.00
R5043:Gabrp UTSW 11 33,518,072 (GRCm39) missense probably benign 0.00
R5213:Gabrp UTSW 11 33,517,211 (GRCm39) critical splice donor site probably null
R5665:Gabrp UTSW 11 33,504,308 (GRCm39) missense possibly damaging 0.56
R6698:Gabrp UTSW 11 33,507,017 (GRCm39) missense probably damaging 1.00
R8711:Gabrp UTSW 11 33,505,023 (GRCm39) missense probably damaging 1.00
R8817:Gabrp UTSW 11 33,504,464 (GRCm39) missense possibly damaging 0.77
R9188:Gabrp UTSW 11 33,517,252 (GRCm39) missense possibly damaging 0.92
R9618:Gabrp UTSW 11 33,504,342 (GRCm39) nonsense probably null
Z1176:Gabrp UTSW 11 33,502,673 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04