Incidental Mutation 'RF010:Gabre'
ID 603175
Institutional Source Beutler Lab
Gene Symbol Gabre
Ensembl Gene ENSMUSG00000031340
Gene Name gamma-aminobutyric acid (GABA) A receptor, subunit epsilon
Accession Numbers
Essential gene? Not available question?
Stock # RF010 (G1)
Quality Score 119.467
Status Not validated
Chromosome X
Chromosomal Location 71300532-71318433 bp(-) (GRCm39)
Type of Mutation small insertion (2 aa in frame mutation)
DNA Base Change (assembly) GCTC to GCTCCGTCTC at 71313666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064780]
AlphaFold A2AMW3
Predicted Effect probably benign
Transcript: ENSMUST00000064780
SMART Domains Protein: ENSMUSP00000066543
Gene: ENSMUSG00000031340

signal peptide 1 22 N/A INTRINSIC
low complexity region 40 55 N/A INTRINSIC
low complexity region 83 169 N/A INTRINSIC
low complexity region 173 219 N/A INTRINSIC
low complexity region 234 441 N/A INTRINSIC
Pfam:Neur_chan_LBD 482 688 1.4e-47 PFAM
Pfam:Neur_chan_memb 695 856 2.1e-23 PFAM
transmembrane domain 892 914 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Ankrd28 A G 14: 31,500,943 (GRCm39) I16T probably damaging Het
AY761185 GCACTGTGGGC G 8: 21,433,927 (GRCm39) probably null Het
Bend3 T A 10: 43,386,180 (GRCm39) F191Y possibly damaging Het
Calhm1 GTGGC GTGGCTGTGGCTATGGC 19: 47,129,712 (GRCm39) probably benign Het
Camkv CGCTGCTGC CGC 9: 107,825,059 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,662 (GRCm39) probably benign Het
Cngb1 CTCTGGCTCTGGCTCTGGCTCTG C 8: 96,030,278 (GRCm39) probably null Het
Cnot3 T C 7: 3,659,068 (GRCm39) V438A probably benign Het
Cntnap5c T A 17: 58,593,790 (GRCm39) W710R probably damaging Het
Dyrk1a A G 16: 94,478,422 (GRCm39) S404G probably benign Het
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,075 (GRCm39) probably benign Het
Flywch1 GTGT GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT 17: 23,981,149 (GRCm39) probably null Het
Fmn2 T A 1: 174,409,581 (GRCm39) S605T unknown Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gli3 A G 13: 15,900,954 (GRCm39) Y1447C probably damaging Het
Hibch T C 1: 52,952,891 (GRCm39) V297A probably benign Het
Ifi213 C G 1: 173,409,719 (GRCm39) D462H probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lce1m GCTGCTGCC GCTGCTGCCCCCACTGCTGCC 3: 92,925,597 (GRCm39) probably benign Het
Lpo A G 11: 87,711,928 (GRCm39) V43A probably benign Het
Map1a A AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Mapk9 A G 11: 49,745,083 (GRCm39) probably benign Het
Mep1a G A 17: 43,797,126 (GRCm39) H314Y probably damaging Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myh3 AC ACTTCC 11: 66,977,185 (GRCm39) probably null Het
Or10ag56 T A 2: 87,139,184 (GRCm39) V37E possibly damaging Het
Or14a259 T C 7: 86,012,594 (GRCm39) Q317R probably benign Het
Pdcd11 AGGAGG A 19: 47,101,890 (GRCm39) probably null Het
Pfkm T A 15: 98,027,674 (GRCm39) I651N possibly damaging Het
Phldb3 CCCCCGCCCC CCCCC 7: 24,325,920 (GRCm39) probably null Het
Polr1has CACCACCAC CACCACCACCACCACCACCACTACCACCAC 17: 37,275,955 (GRCm39) probably benign Het
Prkce T C 17: 86,795,627 (GRCm39) V288A probably damaging Het
Pxmp4 A G 2: 154,434,183 (GRCm39) S93P probably damaging Het
Rfc4 T C 16: 22,946,232 (GRCm39) T17A probably benign Het
Rfx4 CTCTCTCT CTCTCTCTCTCTCTCTATCTCTCT 10: 84,694,351 (GRCm39) probably benign Het
Ryr3 G T 2: 112,606,015 (GRCm39) A2415E probably damaging Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Sec63 C A 10: 42,682,620 (GRCm39) A437E probably benign Het
Six3 GCG GCGTCG 17: 85,928,783 (GRCm39) probably benign Het
Slco5a1 G A 1: 12,942,171 (GRCm39) T825I probably damaging Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCGAG 5: 77,164,274 (GRCm39) probably benign Het
Stard8 GGA GGAAGA X: 98,110,123 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,711,927 (GRCm39) V30A probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Syne1 T A 10: 5,196,386 (GRCm39) D3882V possibly damaging Het
T A G 17: 8,660,540 (GRCm39) T384A probably benign Het
Tbc1d12 CGGGGCGG CG 19: 38,825,384 (GRCm39) probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,816 (GRCm39) probably benign Het
Tcstv5 A T 13: 120,411,582 (GRCm39) V8E probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tfeb CAG CAGAAG 17: 48,097,032 (GRCm39) probably benign Het
Thumpd3 C T 6: 113,033,006 (GRCm39) A248V probably damaging Het
Tlcd4 T A 3: 121,022,533 (GRCm39) I103L probably benign Het
Tmem181a T C 17: 6,330,978 (GRCm39) probably null Het
Trim41 A T 11: 48,698,165 (GRCm39) H600Q probably damaging Het
Ttbk2 A T 2: 120,620,820 (GRCm39) C147* probably null Het
Ttll2 C T 17: 7,618,737 (GRCm39) A397T probably benign Het
Unc79 T A 12: 103,079,046 (GRCm39) L1737Q probably benign Het
Usp47 T A 7: 111,692,145 (GRCm39) V869E probably damaging Het
Vmn1r231 T A 17: 21,110,255 (GRCm39) Q220L probably damaging Het
Vmn2r26 C T 6: 124,016,448 (GRCm39) T304I possibly damaging Het
Wrn T C 8: 33,778,793 (GRCm39) N839S probably benign Het
Zfp384 GGCCCAGG GGCCCAGGAGCACGCCCAGG 6: 125,013,451 (GRCm39) probably benign Het
Zfyve26 C T 12: 79,302,112 (GRCm39) C1828Y probably damaging Het
Other mutations in Gabre
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02176:Gabre APN X 71,318,259 (GRCm39) nonsense probably null
FR4304:Gabre UTSW X 71,313,648 (GRCm39) small insertion probably benign
FR4589:Gabre UTSW X 71,313,648 (GRCm39) small insertion probably benign
FR4589:Gabre UTSW X 71,313,636 (GRCm39) small insertion probably benign
FR4976:Gabre UTSW X 71,314,028 (GRCm39) small insertion probably benign
FR4976:Gabre UTSW X 71,314,024 (GRCm39) small insertion probably benign
R7620:Gabre UTSW X 71,313,865 (GRCm39) missense unknown
RF002:Gabre UTSW X 71,313,663 (GRCm39) nonsense probably null
RF005:Gabre UTSW X 71,313,651 (GRCm39) nonsense probably null
RF009:Gabre UTSW X 71,314,319 (GRCm39) small insertion probably benign
RF009:Gabre UTSW X 71,314,318 (GRCm39) small deletion probably benign
RF013:Gabre UTSW X 71,314,022 (GRCm39) small insertion probably benign
RF023:Gabre UTSW X 71,313,660 (GRCm39) small insertion probably benign
RF024:Gabre UTSW X 71,313,783 (GRCm39) frame shift probably null
RF028:Gabre UTSW X 71,314,369 (GRCm39) small insertion probably benign
RF029:Gabre UTSW X 71,313,665 (GRCm39) small insertion probably benign
RF034:Gabre UTSW X 71,314,368 (GRCm39) small insertion probably benign
RF037:Gabre UTSW X 71,313,667 (GRCm39) small insertion probably benign
RF041:Gabre UTSW X 71,313,655 (GRCm39) small insertion probably benign
RF042:Gabre UTSW X 71,313,653 (GRCm39) small insertion probably benign
RF043:Gabre UTSW X 71,313,654 (GRCm39) small insertion probably benign
RF044:Gabre UTSW X 71,313,667 (GRCm39) small insertion probably benign
RF045:Gabre UTSW X 71,313,787 (GRCm39) frame shift probably null
RF045:Gabre UTSW X 71,313,651 (GRCm39) small insertion probably benign
RF047:Gabre UTSW X 71,314,371 (GRCm39) nonsense probably null
RF047:Gabre UTSW X 71,313,659 (GRCm39) small insertion probably benign
RF049:Gabre UTSW X 71,313,883 (GRCm39) frame shift probably null
RF050:Gabre UTSW X 71,314,347 (GRCm39) nonsense probably null
RF051:Gabre UTSW X 71,313,655 (GRCm39) small insertion probably benign
RF052:Gabre UTSW X 71,313,653 (GRCm39) small insertion probably benign
RF054:Gabre UTSW X 71,314,022 (GRCm39) small insertion probably benign
RF055:Gabre UTSW X 71,313,783 (GRCm39) frame shift probably null
RF058:Gabre UTSW X 71,313,669 (GRCm39) small insertion probably benign
RF059:Gabre UTSW X 71,314,370 (GRCm39) small insertion probably benign
RF061:Gabre UTSW X 71,313,654 (GRCm39) small insertion probably benign
RF064:Gabre UTSW X 71,313,777 (GRCm39) frame shift probably null
RF064:Gabre UTSW X 71,313,669 (GRCm39) nonsense probably null
X0018:Gabre UTSW X 71,313,944 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-12-04