Incidental Mutation 'R0006:Gabrd'
ID 43632
Institutional Source Beutler Lab
Gene Symbol Gabrd
Ensembl Gene ENSMUSG00000029054
Gene Name gamma-aminobutyric acid (GABA) A receptor, subunit delta
Synonyms
MMRRC Submission 041980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0006 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155469436-155482549 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 155473058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 72 (V72L)
Ref Sequence ENSEMBL: ENSMUSP00000030925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030925]
AlphaFold P22933
Predicted Effect probably damaging
Transcript: ENSMUST00000030925
AA Change: V72L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030925
Gene: ENSMUSG00000029054
AA Change: V72L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Neur_chan_LBD 43 247 9.8e-48 PFAM
Pfam:Neur_chan_memb 254 402 6.5e-34 PFAM
transmembrane domain 426 448 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150423
Meta Mutation Damage Score 0.1567 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.3%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased postpartum depression and anxiety behaviors, lethality of pups due to materal neglect, and increased cued and contextual conditional freezing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,813,935 (GRCm39) probably benign Het
Aldh3a1 G A 11: 61,107,927 (GRCm39) V324M probably damaging Het
Als2cl T A 9: 110,723,686 (GRCm39) L694Q possibly damaging Het
Appl2 A G 10: 83,438,762 (GRCm39) F556L probably damaging Het
Atad2b T A 12: 4,992,030 (GRCm39) S210T possibly damaging Het
Aurka A G 2: 172,201,673 (GRCm39) probably null Het
Boc C T 16: 44,316,812 (GRCm39) V444I probably benign Het
Cfap61 G A 2: 145,919,232 (GRCm39) V655I probably benign Het
Chd8 A G 14: 52,472,750 (GRCm39) I351T possibly damaging Het
Chid1 T A 7: 141,076,339 (GRCm39) probably benign Het
Cyp3a41a T A 5: 145,641,606 (GRCm39) H288L probably benign Het
Dnase2b T A 3: 146,288,244 (GRCm39) I284F probably damaging Het
Dock2 A G 11: 34,262,453 (GRCm39) probably benign Het
Dst C T 1: 34,267,999 (GRCm39) T5325I probably benign Het
Erbb3 A G 10: 128,409,279 (GRCm39) probably null Het
Fancl A G 11: 26,419,695 (GRCm39) N316S possibly damaging Het
Farsa G T 8: 85,587,934 (GRCm39) probably benign Het
Fibcd1 T G 2: 31,728,599 (GRCm39) D86A probably damaging Het
Gab1 A T 8: 81,496,359 (GRCm39) M617K possibly damaging Het
Ggh C A 4: 20,054,155 (GRCm39) T150K possibly damaging Het
Gnb3 G A 6: 124,812,767 (GRCm39) probably benign Het
Hephl1 T A 9: 14,988,060 (GRCm39) T683S probably benign Het
Hmcn1 G A 1: 150,684,427 (GRCm39) P381L probably damaging Het
Hspa8 T G 9: 40,715,925 (GRCm39) N544K probably benign Het
Hspg2 C T 4: 137,247,242 (GRCm39) T1155I probably damaging Het
Igdcc4 C T 9: 65,042,382 (GRCm39) probably benign Het
Jazf1 A G 6: 52,871,071 (GRCm39) probably benign Het
Kntc1 T A 5: 123,927,201 (GRCm39) S1219T probably benign Het
L3mbtl1 A T 2: 162,806,489 (GRCm39) Y460F possibly damaging Het
Lcor A G 19: 41,573,338 (GRCm39) T698A probably benign Het
Lyrm7 T A 11: 54,739,423 (GRCm39) T76S probably benign Het
Map1b C T 13: 99,571,810 (GRCm39) V304M probably damaging Het
Mcub A C 3: 129,727,414 (GRCm39) probably benign Het
Muc13 T C 16: 33,623,518 (GRCm39) S271P probably damaging Het
Myo16 A G 8: 10,525,988 (GRCm39) K843E probably damaging Het
Nav2 A G 7: 49,102,978 (GRCm39) E531G possibly damaging Het
Niban3 A G 8: 72,057,688 (GRCm39) probably benign Het
Nup188 T C 2: 30,212,035 (GRCm39) V553A probably benign Het
Or1e16 A G 11: 73,286,314 (GRCm39) F178S probably damaging Het
Or1e1c A G 11: 73,266,414 (GRCm39) M283V possibly damaging Het
Or52d1 A G 7: 103,755,527 (GRCm39) I14V probably benign Het
Or6z1 A G 7: 6,504,610 (GRCm39) I205T possibly damaging Het
Or8b9 T A 9: 37,766,516 (GRCm39) V134D possibly damaging Het
P4ha3 C T 7: 99,968,155 (GRCm39) R378* probably null Het
Rap1gds1 G T 3: 138,689,632 (GRCm39) probably null Het
Rbfox1 T A 16: 7,148,284 (GRCm39) S244R probably benign Het
Rpp40 G A 13: 36,080,718 (GRCm39) P339S probably damaging Het
Rsph4a T C 10: 33,785,144 (GRCm39) C148R probably damaging Het
Skint5 T C 4: 113,751,059 (GRCm39) probably benign Het
Sptbn1 A G 11: 30,073,855 (GRCm39) S1405P probably damaging Het
Tex35 T C 1: 156,927,314 (GRCm39) K154E possibly damaging Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tle4 A G 19: 14,444,078 (GRCm39) probably benign Het
Tnxb T C 17: 34,901,266 (GRCm39) S1027P probably benign Het
Tpm3 T A 3: 89,994,968 (GRCm39) probably benign Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Uggt2 A T 14: 119,287,075 (GRCm39) F640L probably benign Het
Vmn1r20 T G 6: 57,409,290 (GRCm39) H205Q probably damaging Het
Wbp2 T C 11: 115,970,614 (GRCm39) probably null Het
Xirp1 T C 9: 119,846,520 (GRCm39) I788V probably benign Het
Zc3hav1 A G 6: 38,296,637 (GRCm39) probably null Het
Zfp687 A G 3: 94,918,767 (GRCm39) I335T probably damaging Het
Zfpm1 A G 8: 123,061,227 (GRCm39) Y264C probably damaging Het
Other mutations in Gabrd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0006:Gabrd UTSW 4 155,473,058 (GRCm39) missense probably damaging 1.00
R0569:Gabrd UTSW 4 155,469,880 (GRCm39) missense probably damaging 1.00
R1826:Gabrd UTSW 4 155,470,943 (GRCm39) missense probably damaging 1.00
R4387:Gabrd UTSW 4 155,473,389 (GRCm39) critical splice donor site probably null
R5071:Gabrd UTSW 4 155,471,619 (GRCm39) missense probably damaging 1.00
R5650:Gabrd UTSW 4 155,473,081 (GRCm39) missense probably damaging 1.00
R5818:Gabrd UTSW 4 155,472,818 (GRCm39) missense probably damaging 1.00
R6045:Gabrd UTSW 4 155,470,931 (GRCm39) missense possibly damaging 0.82
R6301:Gabrd UTSW 4 155,471,724 (GRCm39) missense probably damaging 0.96
R7064:Gabrd UTSW 4 155,472,803 (GRCm39) missense probably damaging 1.00
R7146:Gabrd UTSW 4 155,469,863 (GRCm39) missense probably benign
R7426:Gabrd UTSW 4 155,469,970 (GRCm39) missense possibly damaging 0.81
R7451:Gabrd UTSW 4 155,472,916 (GRCm39) missense possibly damaging 0.72
R7732:Gabrd UTSW 4 155,470,075 (GRCm39) missense probably benign 0.00
R7784:Gabrd UTSW 4 155,473,389 (GRCm39) critical splice donor site probably null
R8500:Gabrd UTSW 4 155,470,148 (GRCm39) missense probably benign 0.00
R9118:Gabrd UTSW 4 155,470,475 (GRCm39) missense possibly damaging 0.51
R9153:Gabrd UTSW 4 155,470,496 (GRCm39) missense probably damaging 1.00
R9449:Gabrd UTSW 4 155,472,803 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCATTCACGATGAAGGTGTCAGG -3'
(R):5'- ACTGAGGCAAATATGTAACGGCTCC -3'

Sequencing Primer
(F):5'- TAGCTTGTCCACAAAGCGG -3'
(R):5'- ATATGTAACGGCTCCAAGTTCC -3'
Posted On 2013-05-29