Incidental Mutation 'PIT4498001:Gabrr1'
ID 556055
Institutional Source Beutler Lab
Gene Symbol Gabrr1
Ensembl Gene ENSMUSG00000028280
Gene Name gamma-aminobutyric acid type A receptor subunit rho 1
Synonyms GABA-C
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # PIT4498001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 33132556-33163606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33160225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 303 (S303F)
Ref Sequence ENSEMBL: ENSMUSP00000029947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029947]
AlphaFold P56475
Predicted Effect probably damaging
Transcript: ENSMUST00000029947
AA Change: S303F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: S303F

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 69 276 4.8e-53 PFAM
Pfam:Neur_chan_memb 283 402 3.1e-33 PFAM
transmembrane domain 453 472 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.0%
  • 10x: 86.1%
  • 20x: 75.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display altered visual processing in the retina. Mice homozygous for a different knock-out allele exhibit alterations of mechanical pain sensitivity, GABA-inhibited spinal cord responses, and olfactory function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 T C 19: 40,562,800 (GRCm39) N191S probably benign Het
Cacnb2 T A 2: 14,879,630 (GRCm39) L84* probably null Het
Cdhr2 C T 13: 54,866,052 (GRCm39) T284M possibly damaging Het
Defb45 T C 2: 152,438,394 (GRCm39) probably benign Het
Dkk3 C T 7: 111,718,679 (GRCm39) V236M probably benign Het
Dscc1 A T 15: 54,945,711 (GRCm39) V328D probably benign Het
Epha3 T C 16: 63,372,889 (GRCm39) Y938C probably damaging Het
Erc1 A T 6: 119,756,452 (GRCm39) F435I possibly damaging Het
Fbxl5 T C 5: 43,908,323 (GRCm39) Y626C possibly damaging Het
Fmn2 A G 1: 174,440,170 (GRCm39) R1196G probably damaging Het
Ggt1 T C 10: 75,414,689 (GRCm39) V169A possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm3182 T A 14: 4,481,832 (GRCm38) C9S probably damaging Het
Gpr88 A C 3: 116,046,264 (GRCm39) S16A unknown Het
Kalrn A T 16: 33,851,952 (GRCm39) M2076K possibly damaging Het
Katnip A G 7: 125,412,768 (GRCm39) T371A probably benign Het
Kcnd3 T C 3: 105,566,025 (GRCm39) I402T probably damaging Het
Mink1 A G 11: 70,489,714 (GRCm39) D57G probably benign Het
Ncl T C 1: 86,279,162 (GRCm39) T584A possibly damaging Het
Nfx1 A T 4: 40,977,244 (GRCm39) Q306L probably benign Het
Ogdh A T 11: 6,290,504 (GRCm39) D374V probably benign Het
Or5d39 T A 2: 87,980,259 (GRCm39) T35S probably benign Het
Pak5 T A 2: 135,925,211 (GRCm39) H697L probably damaging Het
Pappa T C 4: 65,234,469 (GRCm39) C1425R probably damaging Het
Pramel26 T C 4: 143,539,406 (GRCm39) E29G possibly damaging Het
Rab3gap2 T A 1: 185,013,882 (GRCm39) I1196N probably damaging Het
Ralyl A T 3: 14,172,299 (GRCm39) D56V probably damaging Het
Scin C T 12: 40,119,446 (GRCm39) probably null Het
Slc25a19 T C 11: 115,514,781 (GRCm39) I69V possibly damaging Het
Slc8a1 G T 17: 81,956,269 (GRCm39) Y256* probably null Het
Smyd1 T C 6: 71,196,272 (GRCm39) H372R probably benign Het
St8sia1 T C 6: 142,859,848 (GRCm39) T94A probably damaging Het
Stard9 T A 2: 120,527,916 (GRCm39) M1391K possibly damaging Het
Tlr9 G A 9: 106,100,721 (GRCm39) R4H probably benign Het
Trim50 A G 5: 135,382,331 (GRCm39) D61G probably damaging Het
Ttn G A 2: 76,597,295 (GRCm39) P19873S probably damaging Het
Vmn1r228 G T 17: 20,996,772 (GRCm39) H249N probably benign Het
Vmn2r108 C T 17: 20,683,279 (GRCm39) G642S probably damaging Het
Wdr27 A G 17: 15,154,831 (GRCm39) S29P probably benign Het
Zan A G 5: 137,415,298 (GRCm39) probably null Het
Other mutations in Gabrr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Gabrr1 APN 4 33,162,634 (GRCm39) missense probably benign
IGL02052:Gabrr1 APN 4 33,152,567 (GRCm39) missense probably damaging 0.98
IGL02169:Gabrr1 APN 4 33,160,261 (GRCm39) missense probably damaging 1.00
IGL02834:Gabrr1 APN 4 33,151,426 (GRCm39) missense probably damaging 1.00
R0135:Gabrr1 UTSW 4 33,160,224 (GRCm39) missense probably damaging 1.00
R0606:Gabrr1 UTSW 4 33,132,696 (GRCm39) missense probably benign 0.30
R0739:Gabrr1 UTSW 4 33,162,781 (GRCm39) missense probably benign 0.08
R0843:Gabrr1 UTSW 4 33,161,717 (GRCm39) missense possibly damaging 0.93
R1182:Gabrr1 UTSW 4 33,132,680 (GRCm39) missense probably benign
R1628:Gabrr1 UTSW 4 33,152,432 (GRCm39) missense probably damaging 1.00
R1724:Gabrr1 UTSW 4 33,161,651 (GRCm39) missense probably damaging 0.98
R2300:Gabrr1 UTSW 4 33,152,449 (GRCm39) missense probably benign 0.01
R2405:Gabrr1 UTSW 4 33,157,110 (GRCm39) missense probably damaging 1.00
R3424:Gabrr1 UTSW 4 33,158,058 (GRCm39) missense probably damaging 1.00
R3500:Gabrr1 UTSW 4 33,158,184 (GRCm39) splice site probably benign
R4575:Gabrr1 UTSW 4 33,158,175 (GRCm39) missense possibly damaging 0.94
R4923:Gabrr1 UTSW 4 33,162,820 (GRCm39) missense possibly damaging 0.59
R5686:Gabrr1 UTSW 4 33,161,684 (GRCm39) missense probably damaging 0.98
R5941:Gabrr1 UTSW 4 33,162,676 (GRCm39) missense probably benign 0.01
R6122:Gabrr1 UTSW 4 33,161,695 (GRCm39) missense probably damaging 1.00
R6217:Gabrr1 UTSW 4 33,149,026 (GRCm39) splice site probably null
R6232:Gabrr1 UTSW 4 33,161,632 (GRCm39) missense probably benign 0.41
R6489:Gabrr1 UTSW 4 33,162,855 (GRCm39) missense probably benign 0.02
R6793:Gabrr1 UTSW 4 33,162,712 (GRCm39) missense possibly damaging 0.66
R6996:Gabrr1 UTSW 4 33,158,157 (GRCm39) missense probably damaging 0.96
R7396:Gabrr1 UTSW 4 33,160,207 (GRCm39) missense probably damaging 1.00
R7465:Gabrr1 UTSW 4 33,146,970 (GRCm39) missense probably benign
R7597:Gabrr1 UTSW 4 33,148,964 (GRCm39) missense probably benign 0.17
R8170:Gabrr1 UTSW 4 33,162,718 (GRCm39) missense probably damaging 1.00
R8418:Gabrr1 UTSW 4 33,162,615 (GRCm39) nonsense probably null
R8795:Gabrr1 UTSW 4 33,161,756 (GRCm39) missense probably damaging 0.98
R8933:Gabrr1 UTSW 4 33,146,972 (GRCm39) missense probably benign
R8966:Gabrr1 UTSW 4 33,152,411 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TTGTTTTCTGAAGGAGCCAAGCC -3'
(R):5'- GAGCTGTTTGGGTGGACAAC -3'

Sequencing Primer
(F):5'- AAGCCGCTATGTTGCATGCAC -3'
(R):5'- CCTGGACAGATTTACATGTGGCAC -3'
Posted On 2019-06-07