Incidental Mutation 'ANU22:Gabrp'
ID 262593
Institutional Source Beutler Lab
Gene Symbol Gabrp
Ensembl Gene ENSMUSG00000020159
Gene Name gamma-aminobutyric acid type A receptor subunit pi
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # ANU22
Quality Score 220
Status Not validated
Chromosome 11
Chromosomal Location 33500781-33528959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33505055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 249 (T249A)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366]
AlphaFold Q8QZW7
Predicted Effect probably damaging
Transcript: ENSMUST00000020366
AA Change: T249A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: T249A

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
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 98.1%
  • 10x: 96.2%
  • 20x: 92.5%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts2 A G 11: 50,628,190 (GRCm39) N297D probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Caln1 A G 5: 130,698,392 (GRCm39) E96G probably damaging Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fasl A G 1: 161,609,407 (GRCm39) V193A probably damaging Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Grm6 A T 11: 50,750,346 (GRCm39) D503V probably benign Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ppil1 C A 17: 29,482,862 (GRCm39) V14F possibly damaging Het
Ptprd C A 4: 76,018,693 (GRCm39) D694Y probably damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Skic8 C A 9: 54,635,470 (GRCm39) V44L probably damaging Het
Sptbn4 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Zfp397 C T 18: 24,093,808 (GRCm39) S431L 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
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
R5290:Gabrp UTSW 11 33,517,310 (GRCm39) missense probably damaging 0.99
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 2015-02-04