Incidental Mutation 'R5665:Gabrp'
ID 444359
Institutional Source Beutler Lab
Gene Symbol Gabrp
Ensembl Gene ENSMUSG00000020159
Gene Name gamma-aminobutyric acid type A receptor subunit pi
MMRRC Submission 043308-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5665 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 33500781-33528959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 33504308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 336 (A336P)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366]
AlphaFold Q8QZW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000020366
AA Change: A336P

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: A336P

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acaca G T 11: 84,136,120 (GRCm39) E492* probably null Het
Acp7 T A 7: 28,315,968 (GRCm39) K206M probably benign Het
Agbl1 T A 7: 76,239,251 (GRCm39) F584I probably damaging Het
Ahi1 A G 10: 20,930,946 (GRCm39) I929V possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arhgef40 A G 14: 52,238,357 (GRCm39) I1279V possibly damaging Het
Arl14 A C 3: 69,130,371 (GRCm39) T173P probably damaging Het
Asap1 A G 15: 64,184,302 (GRCm39) S44P probably damaging Het
Btbd7 C A 12: 102,751,456 (GRCm39) A1103S probably benign Het
Capn10 T A 1: 92,865,653 (GRCm39) probably null Het
Capn7 T C 14: 31,091,759 (GRCm39) F719L probably benign Het
Casp7 G A 19: 56,429,414 (GRCm39) D267N probably benign Het
Ccdc13 C A 9: 121,643,356 (GRCm39) K348N probably damaging Het
Chchd1 T C 14: 20,753,178 (GRCm39) F13L probably benign Het
Clcn6 T A 4: 148,099,018 (GRCm39) M442L possibly damaging Het
Col6a3 T C 1: 90,755,602 (GRCm39) E229G probably benign Het
Cyb5r3 A G 15: 83,038,755 (GRCm39) F278S probably damaging Het
Dhx16 C T 17: 36,201,978 (GRCm39) Q1002* probably null Het
Dppa4 T C 16: 48,111,378 (GRCm39) L121P probably benign Het
Dpyd A G 3: 118,710,741 (GRCm39) E383G probably damaging Het
Eif4g3 A G 4: 137,853,900 (GRCm39) T489A probably benign Het
Elovl1 G T 4: 118,288,832 (GRCm39) V174L probably damaging Het
Elp3 T C 14: 65,788,851 (GRCm39) K392E possibly damaging Het
Fancd2os C A 6: 113,574,985 (GRCm39) W7L probably damaging Het
Fchsd2 A G 7: 100,759,991 (GRCm39) T23A possibly damaging Het
Gcm2 T A 13: 41,263,387 (GRCm39) Y15F possibly damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Herc1 A G 9: 66,372,717 (GRCm39) E3091G probably damaging Het
Homer1 A T 13: 93,492,610 (GRCm39) M184L probably benign Het
Izumo1r T C 9: 14,812,145 (GRCm39) E117G probably damaging Het
Kcnt1 C T 2: 25,791,921 (GRCm39) Q590* probably null Het
Lama1 G T 17: 68,077,982 (GRCm39) C1139F probably damaging Het
Med29 C T 7: 28,086,239 (GRCm39) A190T probably benign Het
Muc4 T C 16: 32,569,600 (GRCm39) V220A probably benign Het
Mxra8 G T 4: 155,927,378 (GRCm39) V388L probably benign Het
Myo5a T C 9: 75,051,463 (GRCm39) probably null Het
Myrip A G 9: 120,290,499 (GRCm39) Y706C probably damaging Het
Nphp4 T C 4: 152,590,942 (GRCm39) V313A probably benign Het
Oga A C 19: 45,765,436 (GRCm39) S124A probably benign Het
Olfm2 T G 9: 20,579,840 (GRCm39) probably null Het
Or10ag52 T A 2: 87,044,072 (GRCm39) S279T probably benign Het
Or10x4 T C 1: 174,218,941 (GRCm39) F102S probably damaging Het
Pcdh15 C T 10: 74,462,620 (GRCm39) P1398L probably damaging Het
Pdpr A G 8: 111,841,443 (GRCm39) E225G possibly damaging Het
Pigs C A 11: 78,219,595 (GRCm39) probably null Het
Pkhd1 T A 1: 20,658,755 (GRCm39) T159S probably damaging Het
Plk4 A G 3: 40,768,021 (GRCm39) T87A possibly damaging Het
Plxna4 T C 6: 32,192,657 (GRCm39) Y768C probably damaging Het
Prl3d3 T A 13: 27,343,064 (GRCm39) probably null Het
Pygb T C 2: 150,662,808 (GRCm39) probably null Het
Rnf114 T C 2: 167,352,854 (GRCm39) I118T possibly damaging Het
Sbno2 A G 10: 79,894,287 (GRCm39) L1099P probably benign Het
Scaper T C 9: 55,714,916 (GRCm39) K791E probably damaging Het
Serping1 T C 2: 84,601,889 (GRCm39) T194A probably damaging Het
Slc12a9 A G 5: 137,319,665 (GRCm39) S617P possibly damaging Het
Slk G A 19: 47,624,896 (GRCm39) R1039H probably damaging Het
Sntb1 T A 15: 55,655,535 (GRCm39) E227V probably benign Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Spred1 C T 2: 116,983,486 (GRCm39) R16* probably null Het
Srpk2 A G 5: 23,723,475 (GRCm39) I547T probably damaging Het
Stt3a A G 9: 36,670,610 (GRCm39) Y54H probably damaging Het
Stt3b A T 9: 115,095,215 (GRCm39) L272H probably damaging Het
Syne2 T A 12: 76,154,991 (GRCm39) probably null Het
Uso1 A T 5: 92,346,196 (GRCm39) E793V possibly damaging Het
Usp15 A T 10: 122,966,892 (GRCm39) L476* probably null Het
Vmn1r189 T C 13: 22,286,336 (GRCm39) Y167C probably damaging Het
Vmn2r24 A G 6: 123,763,938 (GRCm39) T272A possibly damaging Het
Vps13a A T 19: 16,646,054 (GRCm39) H1994Q probably damaging Het
Zbtb10 T C 3: 9,330,252 (GRCm39) S537P probably damaging Het
Zbtb12 T C 17: 35,114,859 (GRCm39) S215P possibly damaging Het
Zfp346 T C 13: 55,260,915 (GRCm39) M81T probably benign Het
Zfp800 T C 6: 28,244,512 (GRCm39) D151G probably null 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
R5290:Gabrp UTSW 11 33,517,310 (GRCm39) missense probably damaging 0.99
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 2016-11-09