Incidental Mutation 'R6086:Gabrg1'
ID 482470
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 044427-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6086 (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 70911396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 410 (L410Q)
Ref Sequence ENSEMBL: ENSMUSP00000142454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031119] [ENSMUST00000199705]
AlphaFold Q9R0Y8
Predicted Effect probably damaging
Transcript: ENSMUST00000031119
AA Change: L456Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031119
Gene: ENSMUSG00000001260
AA Change: L456Q

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 probably damaging
Transcript: ENSMUST00000199705
AA Change: L410Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142454
Gene: ENSMUSG00000001260
AA Change: L410Q

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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (65/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 8,065,164 (GRCm39) K4044N probably benign Het
Asic4 G A 1: 75,449,887 (GRCm39) V468I possibly damaging Het
Atf4 T A 15: 80,141,654 (GRCm39) V348D probably benign Het
Bcl9 A G 3: 97,112,840 (GRCm39) V1205A possibly damaging Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Cap2 C A 13: 46,789,188 (GRCm39) P131Q probably damaging Het
Cdyl2 A G 8: 117,316,035 (GRCm39) S318P probably damaging Het
Ces1a T G 8: 93,753,981 (GRCm39) N341H probably benign Het
Cimap2 T C 4: 106,470,403 (GRCm39) E218G probably damaging Het
Crlf3 C T 11: 79,939,436 (GRCm39) V352M possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyren A G 6: 34,851,555 (GRCm39) S127P probably damaging Het
Dnah2 T C 11: 69,406,834 (GRCm39) T529A probably benign Het
Dnah9 C T 11: 65,880,741 (GRCm39) D2619N probably damaging Het
Dnah9 A C 11: 65,976,000 (GRCm39) S1350A probably benign Het
Dnajc6 C T 4: 101,455,004 (GRCm39) S65L probably benign Het
Dnm3 C A 1: 162,148,602 (GRCm39) R256S probably damaging Het
Enpp2 T C 15: 54,709,230 (GRCm39) D795G probably damaging Het
Fah A T 7: 84,238,120 (GRCm39) W367R probably damaging Het
Fam220a T A 5: 143,548,796 (GRCm39) H69Q probably benign Het
Fgd3 T A 13: 49,440,772 (GRCm39) T220S probably benign Het
Furin G T 7: 80,045,179 (GRCm39) H248Q probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Gm9742 T C 13: 8,080,069 (GRCm39) noncoding transcript Het
Gpcpd1 A G 2: 132,380,034 (GRCm39) S252P probably damaging Het
Hnrnpdl C T 5: 100,184,340 (GRCm39) G398S probably null Het
Hspa1l T C 17: 35,197,131 (GRCm39) V390A possibly damaging Het
Htr3b T C 9: 48,858,598 (GRCm39) S94G probably benign Het
Klf10 G T 15: 38,297,181 (GRCm39) S271R probably benign Het
Klk1b3 T A 7: 43,851,158 (GRCm39) L197Q probably damaging Het
Knl1 A G 2: 118,924,549 (GRCm39) R1861G probably damaging Het
Myo9a C T 9: 59,697,340 (GRCm39) Q374* probably null Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Ncapg T C 5: 45,850,578 (GRCm39) L728P probably damaging Het
Nfxl1 A C 5: 72,698,362 (GRCm39) F228V probably benign Het
Ntaq1 C A 15: 58,014,024 (GRCm39) A71E probably damaging Het
Oc90 A G 15: 65,761,560 (GRCm39) S153P probably damaging Het
Or4c123 A G 2: 89,127,198 (GRCm39) C139R probably damaging Het
Or5b105 A G 19: 13,079,745 (GRCm39) *308Q probably null Het
Pbk A T 14: 66,052,702 (GRCm39) K182* probably null Het
Piezo1 A G 8: 123,228,396 (GRCm39) F296S possibly damaging Het
Psmg1 T A 16: 95,781,244 (GRCm39) Y288F probably damaging Het
Rab11fip4 G A 11: 79,574,306 (GRCm39) D132N probably damaging Het
Recql4 T C 15: 76,588,787 (GRCm39) D1051G probably damaging Het
Reep5 A C 18: 34,490,184 (GRCm39) D104E probably damaging Het
Rnpepl1 T C 1: 92,845,403 (GRCm39) Y441H probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Sema3b T C 9: 107,478,047 (GRCm39) D446G probably damaging Het
Sema4d C T 13: 51,867,781 (GRCm39) R190Q probably damaging Het
Slco3a1 G A 7: 73,968,338 (GRCm39) R461C possibly damaging Het
Spmap2l T A 5: 77,209,152 (GRCm39) V458E probably benign Het
Tenm2 T A 11: 35,899,473 (GRCm39) I2562F possibly damaging Het
Tmem40 G T 6: 115,710,628 (GRCm39) N120K possibly damaging Het
Tmod3 T C 9: 75,407,405 (GRCm39) H351R probably benign Het
Tnn C T 1: 159,913,690 (GRCm39) V1268M probably damaging Het
Tpmt T A 13: 47,188,506 (GRCm39) D132V probably damaging Het
Trgc3 T C 13: 19,447,454 (GRCm39) S136P probably damaging Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Tsen2 A G 6: 115,537,036 (GRCm39) E264G probably benign Het
Urah A G 7: 140,416,711 (GRCm39) I60M probably benign Het
Vmn2r26 T A 6: 124,016,519 (GRCm39) S328T possibly damaging Het
Vmn2r27 G C 6: 124,168,958 (GRCm39) T724R probably damaging Het
Washc2 A G 6: 116,233,177 (GRCm39) probably null Het
Zfp955b T A 17: 33,521,478 (GRCm39) W316R probably benign Het
Zranb2 T C 3: 157,248,883 (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
R6148:Gabrg1 UTSW 5 70,931,804 (GRCm39) missense probably damaging 1.00
R6234:Gabrg1 UTSW 5 70,999,484 (GRCm39) missense probably benign 0.01
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'- TTATGAAAGCCCTAGTCACATAACC -3'
(R):5'- ATTTACTCAGGCTTCCCCAGG -3'

Posted On 2017-07-14