Incidental Mutation 'R5043:Gabrp'
ID 393311
Institutional Source Beutler Lab
Gene Symbol Gabrp
Ensembl Gene ENSMUSG00000020159
Gene Name gamma-aminobutyric acid (GABA) A receptor, pi
MMRRC Submission 042633-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5043 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 33550781-33578959 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33568072 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 79 (N79D)
Ref Sequence ENSEMBL: ENSMUSP00000020366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020366] [ENSMUST00000135350]
AlphaFold Q8QZW7
Predicted Effect probably benign
Transcript: ENSMUST00000020366
AA Change: N79D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: N79D

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
Predicted Effect probably benign
Transcript: ENSMUST00000135350
SMART Domains Protein: ENSMUSP00000120500
Gene: ENSMUSG00000020159

signal peptide 1 23 N/A INTRINSIC
Meta Mutation Damage Score 0.1200 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency 98% (44/45)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 145,044,100 (GRCm38) Y106* probably null Het
1700061G19Rik A G 17: 56,885,198 (GRCm38) Y587C probably damaging Het
Akap12 G C 10: 4,355,047 (GRCm38) G619A probably damaging Het
Arhgap29 A G 3: 121,974,004 (GRCm38) K32E probably benign Het
Capg T A 6: 72,558,254 (GRCm38) Y253* probably null Het
Cntnap3 A T 13: 64,794,348 (GRCm38) F189L probably damaging Het
Cp T C 3: 19,973,917 (GRCm38) S496P probably benign Het
Cxcl11 T C 5: 92,363,152 (GRCm38) probably null Het
Dennd3 T C 15: 73,527,936 (GRCm38) L217P probably benign Het
Dip2c G T 13: 9,551,827 (GRCm38) R274L possibly damaging Het
Dnah12 C T 14: 26,884,190 (GRCm38) S3776L probably damaging Het
Emcn A G 3: 137,391,601 (GRCm38) T94A possibly damaging Het
Fnip2 A T 3: 79,492,867 (GRCm38) Y397* probably null Het
Glmp T G 3: 88,326,676 (GRCm38) probably benign Het
Gm12794 T C 4: 101,940,524 (GRCm38) F40L possibly damaging Het
Gm5921 C T 9: 115,438,019 (GRCm38) noncoding transcript Het
Gm6483 A G 8: 19,693,670 (GRCm38) T104A probably benign Het
Ifi206 A T 1: 173,486,718 (GRCm38) M52K probably damaging Het
Iqcc T C 4: 129,618,277 (GRCm38) probably benign Het
Klra2 T A 6: 131,220,172 (GRCm38) H288L probably benign Het
Myo5b T C 18: 74,638,153 (GRCm38) probably null Het
Nisch A G 14: 31,176,465 (GRCm38) probably benign Het
Nlrp4c A G 7: 6,066,825 (GRCm38) N575S probably benign Het
Olfr354 A C 2: 36,906,965 (GRCm38) R6S probably benign Het
Olfr913 A G 9: 38,594,841 (GRCm38) I207V probably damaging Het
Phlda1 T A 10: 111,507,291 (GRCm38) L296Q unknown Het
Rab36 G A 10: 75,051,005 (GRCm38) E182K probably benign Het
Rasa3 G A 8: 13,570,368 (GRCm38) T767M possibly damaging Het
Serpinb11 G A 1: 107,369,465 (GRCm38) V24M probably damaging Het
Slc7a14 T G 3: 31,237,466 (GRCm38) N221T probably damaging Het
Smg6 T C 11: 74,929,895 (GRCm38) S331P possibly damaging Het
Snx1 C T 9: 66,097,436 (GRCm38) A183T probably benign Het
Srpk2 T C 5: 23,524,517 (GRCm38) T375A probably benign Het
Tecpr1 T C 5: 144,197,854 (GRCm38) probably null Het
Topaz1 A T 9: 122,748,404 (GRCm38) E126D probably benign Het
Ugt2b1 C G 5: 86,917,644 (GRCm38) C512S possibly damaging Het
Ugt2b37 C T 5: 87,251,860 (GRCm38) W263* probably null Het
Utp20 A T 10: 88,798,746 (GRCm38) M750K possibly damaging Het
Yeats2 A T 16: 20,208,465 (GRCm38) Q822L probably damaging Het
Zfp609 T C 9: 65,700,827 (GRCm38) Y1257C probably damaging Het
Other mutations in Gabrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Gabrp APN 11 33,552,644 (GRCm38) missense possibly damaging 0.91
IGL01299:Gabrp APN 11 33,554,476 (GRCm38) missense probably damaging 1.00
IGL01305:Gabrp APN 11 33,555,055 (GRCm38) missense probably damaging 1.00
IGL01686:Gabrp APN 11 33,552,826 (GRCm38) nonsense probably null
IGL01729:Gabrp APN 11 33,552,689 (GRCm38) missense probably damaging 1.00
IGL03031:Gabrp APN 11 33,554,980 (GRCm38) missense probably damaging 1.00
IGL03172:Gabrp APN 11 33,554,388 (GRCm38) missense probably damaging 1.00
IGL03280:Gabrp APN 11 33,552,616 (GRCm38) missense probably benign 0.12
ANU22:Gabrp UTSW 11 33,555,055 (GRCm38) missense probably damaging 1.00
R0265:Gabrp UTSW 11 33,552,614 (GRCm38) missense probably damaging 1.00
R0326:Gabrp UTSW 11 33,554,362 (GRCm38) missense probably damaging 0.99
R1744:Gabrp UTSW 11 33,572,462 (GRCm38) missense probably benign 0.03
R4174:Gabrp UTSW 11 33,568,092 (GRCm38) missense probably damaging 1.00
R5213:Gabrp UTSW 11 33,567,211 (GRCm38) critical splice donor site probably null
R5290:Gabrp UTSW 11 33,567,310 (GRCm38) missense probably damaging 0.99
R5665:Gabrp UTSW 11 33,554,308 (GRCm38) missense possibly damaging 0.56
R6698:Gabrp UTSW 11 33,557,017 (GRCm38) missense probably damaging 1.00
R8711:Gabrp UTSW 11 33,555,023 (GRCm38) missense probably damaging 1.00
R8817:Gabrp UTSW 11 33,554,464 (GRCm38) missense possibly damaging 0.77
R9188:Gabrp UTSW 11 33,567,252 (GRCm38) missense possibly damaging 0.92
R9618:Gabrp UTSW 11 33,554,342 (GRCm38) nonsense probably null
Z1176:Gabrp UTSW 11 33,552,673 (GRCm38) missense probably benign 0.06
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-15