Incidental Mutation 'R7877:Gabrg1'
ID 608487
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 045929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7877 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 70908390-70999960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70973415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 46 (D46E)
Ref Sequence ENSEMBL: ENSMUSP00000031119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031119] [ENSMUST00000199705]
AlphaFold Q9R0Y8
Predicted Effect probably damaging
Transcript: ENSMUST00000031119
AA Change: D46E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031119
Gene: ENSMUSG00000001260
AA Change: D46E

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: D41E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142454
Gene: ENSMUSG00000001260
AA Change: D41E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,220,665 (GRCm39) C388Y probably damaging Het
4930522L14Rik G A 5: 109,884,230 (GRCm39) H543Y probably damaging Het
Abca1 A T 4: 53,046,135 (GRCm39) V1711E possibly damaging Het
Abca3 A T 17: 24,602,997 (GRCm39) K531* probably null Het
Adgrf5 A T 17: 43,752,729 (GRCm39) D557V possibly damaging Het
Adgrl3 A G 5: 81,842,467 (GRCm39) E865G probably benign Het
Adprhl1 T A 8: 13,275,316 (GRCm39) R481* probably null Het
Afap1l1 T A 18: 61,879,853 (GRCm39) D339V probably damaging Het
Atp9b T A 18: 80,890,412 (GRCm39) H309L Het
Baiap3 A G 17: 25,470,112 (GRCm39) V122A probably damaging Het
Btg4 T C 9: 51,029,240 (GRCm39) S142P probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdca2 T A 14: 67,914,665 (GRCm39) T865S probably benign Het
Cdk12 A G 11: 98,131,661 (GRCm39) Y964C unknown Het
Cenpo A T 12: 4,264,573 (GRCm39) F273Y probably damaging Het
Cfap96 T A 8: 46,423,436 (GRCm39) K92M probably damaging Het
Chac1 T A 2: 119,183,987 (GRCm39) D196E probably damaging Het
Clec4n T C 6: 123,209,063 (GRCm39) F43L probably benign Het
Colgalt1 T A 8: 72,074,508 (GRCm39) C407S probably damaging Het
Csnk1g1 T A 9: 65,906,830 (GRCm39) probably null Het
Cyp2b23 T A 7: 26,385,851 (GRCm39) E2V probably damaging Het
Cyp51 T A 5: 4,152,929 (GRCm39) K91M probably damaging Het
Cyria A C 12: 12,414,798 (GRCm39) Y263S probably benign Het
Dnah8 G T 17: 30,882,348 (GRCm39) G640V probably benign Het
Dnajc2 G T 5: 21,965,637 (GRCm39) S505R possibly damaging Het
Fam124b A T 1: 80,191,053 (GRCm39) L110H probably damaging Het
Fem1b T A 9: 62,703,844 (GRCm39) Y472F probably benign Het
Frem1 A G 4: 82,932,049 (GRCm39) probably null Het
Gbp4 T C 5: 105,266,161 (GRCm39) K627E probably benign Het
Glis1 A G 4: 107,491,900 (GRCm39) D776G probably damaging Het
Gm4847 A G 1: 166,467,575 (GRCm39) V207A possibly damaging Het
Gm7298 T A 6: 121,759,741 (GRCm39) Y1213* probably null Het
Gm8229 T A 14: 44,604,033 (GRCm39) L74* probably null Het
Hc A T 2: 34,887,411 (GRCm39) Y1364* probably null Het
Hnrnpa2b1 A T 6: 51,443,302 (GRCm39) S186R unknown Het
Hrh4 A G 18: 13,155,582 (GRCm39) I374V possibly damaging Het
Ighmbp2 A G 19: 3,311,490 (GRCm39) L975P probably damaging Het
Intu G A 3: 40,654,222 (GRCm39) V905I probably benign Het
Large1 T A 8: 73,843,071 (GRCm39) R151W probably damaging Het
Limd2 G A 11: 106,050,004 (GRCm39) T24M probably benign Het
Med16 A T 10: 79,734,206 (GRCm39) C569* probably null Het
Mettl1 T G 10: 126,880,390 (GRCm39) V104G possibly damaging Het
Mgat4c A G 10: 102,220,900 (GRCm39) T61A probably benign Het
Mrps31 T A 8: 22,914,367 (GRCm39) Y238N probably benign Het
Mrs2 T C 13: 25,181,113 (GRCm39) E236G probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Noxred1 G A 12: 87,271,761 (GRCm39) A136V probably benign Het
Obscn T A 11: 59,024,588 (GRCm39) D484V probably damaging Het
Picalm C A 7: 89,779,876 (GRCm39) H32Q probably benign Het
Pik3r5 G A 11: 68,381,431 (GRCm39) G206R probably damaging Het
Plekhh2 G A 17: 84,882,434 (GRCm39) C680Y probably benign Het
Plxna1 A G 6: 89,300,241 (GRCm39) F1614S probably damaging Het
Ppip5k1 T C 2: 121,147,235 (GRCm39) M1129V probably benign Het
Prp2 C T 6: 132,572,928 (GRCm39) T7I unknown Het
Rrbp1 A T 2: 143,789,815 (GRCm39) probably benign Het
Sdhaf3 C T 6: 7,038,855 (GRCm39) T59M probably benign Het
Slc17a6 T A 7: 51,275,253 (GRCm39) I104N probably benign Het
Slc35c1 A T 2: 92,289,402 (GRCm39) W48R probably damaging Het
Slc5a4b A T 10: 75,910,886 (GRCm39) C317S probably damaging Het
Smim13 G T 13: 41,403,650 (GRCm39) probably benign Het
Snrpg T C 6: 86,355,761 (GRCm39) V76A probably benign Het
Sntb2 C T 8: 107,738,164 (GRCm39) T509I probably benign Het
Sptbn1 T C 11: 30,079,601 (GRCm39) D1276G possibly damaging Het
Sptbn2 A G 19: 4,794,290 (GRCm39) E1498G possibly damaging Het
Stau1 T A 2: 166,792,787 (GRCm39) N393Y possibly damaging Het
Tars2 A T 3: 95,653,401 (GRCm39) S500T probably damaging Het
Tbc1d23 A T 16: 56,993,488 (GRCm39) D559E probably benign Het
Trav14-2 T C 14: 53,878,508 (GRCm39) Y64H possibly damaging Het
Trpm3 A C 19: 22,882,148 (GRCm39) E838D probably benign Het
Vmn1r23 G A 6: 57,903,541 (GRCm39) A79V probably benign Het
Vmn1r48 G T 6: 90,013,431 (GRCm39) N131K probably benign Het
Vmn2r18 A T 5: 151,508,437 (GRCm39) M229K probably damaging Het
Zbtb4 G A 11: 69,666,863 (GRCm39) R56K probably benign Het
Zfp616 G T 11: 73,975,188 (GRCm39) G486W probably damaging Het
Zkscan8 A T 13: 21,704,580 (GRCm39) F453Y possibly damaging 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
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
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'- TCGGGAACATTCTTTGGATATGAG -3'
(R):5'- GAACAAGTCTAGGGAGCAATATTC -3'

Sequencing Primer
(F):5'- CGCCTATATCTGGACGAA -3'
(R):5'- GACATTCAGTATTTGGTTTAGCATGC -3'
Posted On 2019-12-20