Incidental Mutation 'R6234:Gabrg1'
ID 504813
Institutional Source Beutler Lab
Gene Symbol Gabrg1
Ensembl Gene ENSMUSG00000001260
Gene Name gamma-aminobutyric acid type A receptor subunit gamma 1
Synonyms GabaA
MMRRC Submission 044399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6234 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 70908390-70999960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70999484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 22 (L22I)
Ref Sequence ENSEMBL: ENSMUSP00000142454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031119] [ENSMUST00000199705]
AlphaFold Q9R0Y8
Predicted Effect probably benign
Transcript: ENSMUST00000031119
AA Change: L27I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000031119
Gene: ENSMUSG00000001260
AA Change: L27I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 40 46 N/A INTRINSIC
Pfam:Neur_chan_LBD 64 270 7e-51 PFAM
Pfam:Neur_chan_memb 277 378 2.3e-36 PFAM
low complexity region 411 422 N/A INTRINSIC
transmembrane domain 441 463 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197068
Predicted Effect probably benign
Transcript: ENSMUST00000199705
AA Change: L22I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142454
Gene: ENSMUSG00000001260
AA Change: L22I

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 35 41 N/A INTRINSIC
Pfam:Neur_chan_LBD 59 265 1.7e-50 PFAM
Pfam:Neur_chan_memb 272 304 9.5e-12 PFAM
low complexity region 365 376 N/A INTRINSIC
transmembrane domain 395 417 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200126
Meta Mutation Damage Score 0.2467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgb A C 10: 10,228,824 (GRCm39) probably null Het
Aldoart1 A G 4: 72,770,409 (GRCm39) I78T probably damaging Het
Bcl2l2 A G 14: 55,122,245 (GRCm39) D136G probably benign Het
Bltp1 A G 3: 37,037,620 (GRCm39) T2475A probably benign Het
Cd34 A T 1: 194,630,308 (GRCm39) I81F probably damaging Het
Chmp1b T A 18: 67,339,169 (GRCm39) *200R probably null Het
Clic6 T C 16: 92,296,110 (GRCm39) S257P probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Eef1akmt2 T C 7: 132,429,585 (GRCm39) T215A probably damaging Het
Fbrsl1 G A 5: 110,525,917 (GRCm39) T95I probably damaging Het
Fer1l6 T C 15: 58,432,488 (GRCm39) I345T probably damaging Het
Fmn1 T C 2: 113,196,000 (GRCm39) F567L unknown Het
Ftdc1 T A 16: 58,435,034 (GRCm39) D97V probably benign Het
Gfm1 A G 3: 67,342,847 (GRCm39) D127G probably damaging Het
Gm5114 T A 7: 39,058,768 (GRCm39) T284S probably benign Het
Gm9925 A T 18: 74,198,308 (GRCm39) probably benign Het
Hc T C 2: 34,918,058 (GRCm39) I742V probably benign Het
Heatr5a A T 12: 51,924,237 (GRCm39) M1992K possibly damaging Het
Homer3 T C 8: 70,743,815 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Il21r A G 7: 125,231,757 (GRCm39) D395G probably damaging Het
Kctd14 T A 7: 97,107,219 (GRCm39) V190E probably damaging Het
Mamdc4 C G 2: 25,460,092 (GRCm39) G57A probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mtch1 A T 17: 29,559,485 (GRCm39) probably null Het
Nasp G A 4: 116,479,979 (GRCm39) A31V possibly damaging Het
Neil3 G T 8: 54,061,774 (GRCm39) D202E probably damaging Het
Nfkb1 C T 3: 135,332,471 (GRCm39) V95I possibly damaging Het
Ptpra T A 2: 130,379,508 (GRCm39) M327K probably damaging Het
Ptprg C A 14: 12,213,747 (GRCm38) F263L probably damaging Het
Sap30 A G 8: 57,938,152 (GRCm39) V155A probably damaging Het
Serpinb2 G A 1: 107,452,501 (GRCm39) V360M probably damaging Het
Stradb A G 1: 59,027,707 (GRCm39) H79R probably damaging Het
Svep1 A T 4: 58,113,458 (GRCm39) probably null Het
Tcaf2 A T 6: 42,607,308 (GRCm39) H215Q probably benign Het
Tdrd5 A T 1: 156,120,947 (GRCm39) S227T possibly damaging Het
Timmdc1 A T 16: 38,338,861 (GRCm39) Y76* probably null Het
Tmbim4 T A 10: 120,057,628 (GRCm39) probably null Het
Tpr A G 1: 150,293,790 (GRCm39) K854R probably benign Het
Trav6-5 A G 14: 53,728,832 (GRCm39) T30A probably benign Het
Trrap T A 5: 144,776,523 (GRCm39) probably null Het
Ube2o A T 11: 116,430,316 (GRCm39) S1141T probably benign Het
Usp54 T A 14: 20,633,518 (GRCm39) K339I probably damaging Het
Vwf T G 6: 125,634,128 (GRCm39) V202G unknown Het
Wdr7 T C 18: 63,857,203 (GRCm39) L93P probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null Het
Other mutations in Gabrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Gabrg1 APN 5 70,973,298 (GRCm39) critical splice donor site probably null
IGL00798:Gabrg1 APN 5 70,939,626 (GRCm39) missense probably damaging 1.00
IGL01012:Gabrg1 APN 5 70,935,512 (GRCm39) missense probably benign 0.03
IGL01597:Gabrg1 APN 5 70,939,691 (GRCm39) missense probably damaging 1.00
IGL01637:Gabrg1 APN 5 70,934,548 (GRCm39) missense probably damaging 1.00
IGL02589:Gabrg1 APN 5 70,999,495 (GRCm39) nonsense probably null
IGL03031:Gabrg1 APN 5 70,952,025 (GRCm39) nonsense probably null
IGL03346:Gabrg1 APN 5 70,935,474 (GRCm39) missense possibly damaging 0.89
PIT4260001:Gabrg1 UTSW 5 70,939,623 (GRCm39) missense probably benign 0.01
R0197:Gabrg1 UTSW 5 70,931,732 (GRCm39) missense probably damaging 1.00
R1271:Gabrg1 UTSW 5 70,934,487 (GRCm39) missense probably damaging 0.98
R1795:Gabrg1 UTSW 5 70,939,596 (GRCm39) missense possibly damaging 0.83
R1817:Gabrg1 UTSW 5 70,911,594 (GRCm39) missense probably benign 0.08
R1820:Gabrg1 UTSW 5 70,931,756 (GRCm39) missense probably damaging 1.00
R2254:Gabrg1 UTSW 5 70,939,707 (GRCm39) nonsense probably null
R4566:Gabrg1 UTSW 5 70,999,484 (GRCm39) missense probably benign 0.01
R4768:Gabrg1 UTSW 5 70,911,516 (GRCm39) missense probably damaging 0.99
R4976:Gabrg1 UTSW 5 70,931,754 (GRCm39) missense possibly damaging 0.95
R5104:Gabrg1 UTSW 5 70,931,775 (GRCm39) missense probably damaging 1.00
R6062:Gabrg1 UTSW 5 70,938,056 (GRCm39) missense probably damaging 1.00
R6086:Gabrg1 UTSW 5 70,911,396 (GRCm39) missense probably damaging 1.00
R6148:Gabrg1 UTSW 5 70,931,804 (GRCm39) missense probably damaging 1.00
R6724:Gabrg1 UTSW 5 70,911,552 (GRCm39) missense possibly damaging 0.80
R6786:Gabrg1 UTSW 5 70,911,610 (GRCm39) missense probably benign 0.00
R6794:Gabrg1 UTSW 5 70,973,314 (GRCm39) missense probably damaging 1.00
R7209:Gabrg1 UTSW 5 70,911,513 (GRCm39) missense probably damaging 0.98
R7654:Gabrg1 UTSW 5 70,935,504 (GRCm39) missense probably benign 0.44
R7671:Gabrg1 UTSW 5 70,973,323 (GRCm39) missense probably damaging 1.00
R7844:Gabrg1 UTSW 5 70,931,675 (GRCm39) missense probably damaging 1.00
R7877:Gabrg1 UTSW 5 70,973,415 (GRCm39) missense probably damaging 0.99
R8219:Gabrg1 UTSW 5 70,931,643 (GRCm39) nonsense probably null
R8998:Gabrg1 UTSW 5 70,973,378 (GRCm39) missense probably benign 0.01
R8999:Gabrg1 UTSW 5 70,973,378 (GRCm39) missense probably benign 0.01
R9132:Gabrg1 UTSW 5 70,939,622 (GRCm39) missense possibly damaging 0.90
R9279:Gabrg1 UTSW 5 70,934,599 (GRCm39) missense probably benign 0.00
R9358:Gabrg1 UTSW 5 70,935,422 (GRCm39) missense possibly damaging 0.93
R9483:Gabrg1 UTSW 5 70,999,558 (GRCm39) missense possibly damaging 0.74
R9506:Gabrg1 UTSW 5 70,939,713 (GRCm39) missense probably damaging 0.97
R9593:Gabrg1 UTSW 5 70,939,808 (GRCm39) missense probably damaging 1.00
R9747:Gabrg1 UTSW 5 70,938,029 (GRCm39) missense probably damaging 1.00
X0027:Gabrg1 UTSW 5 70,911,604 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATGCCGTCTCCAAGTAAGC -3'
(R):5'- TCCGTAGCTCAGTTCTGCTG -3'

Sequencing Primer
(F):5'- TGCCGTCTCCAAGTAAGCAGAATC -3'
(R):5'- GAGGTGTACTGCCTATCCAC -3'
Posted On 2018-02-28