Incidental Mutation 'R0739:Gabrr1'
ID 70615
Institutional Source Beutler Lab
Gene Symbol Gabrr1
Ensembl Gene ENSMUSG00000028280
Gene Name gamma-aminobutyric acid type A receptor subunit rho 1
Synonyms GABA-C
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 33132556-33163606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33162781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 449 (M449T)
Ref Sequence ENSEMBL: ENSMUSP00000029947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029947]
AlphaFold P56475
Predicted Effect probably benign
Transcript: ENSMUST00000029947
AA Change: M449T

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029947
Gene: ENSMUSG00000028280
AA Change: M449T

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
Meta Mutation Damage Score 0.1047 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S probably damaging 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
PIT4498001:Gabrr1 UTSW 4 33,160,225 (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
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'- TGCTGGACAGCAGCTACAGTGATG -3'
(R):5'- ACCCCTCAATGTGAACAGAGTCAGG -3'

Sequencing Primer
(F):5'- CTACAGTGATGGAGAGGTGAAC -3'
(R):5'- GTCAGGTACTATCATGGCAACTTC -3'
Posted On 2013-09-30