Incidental Mutation 'R2185:Gabrr3'
ID 237846
Institutional Source Beutler Lab
Gene Symbol Gabrr3
Ensembl Gene ENSMUSG00000074991
Gene Name gamma-aminobutyric acid type A receptor subunit rho 3
Synonyms
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 59227745-59282102 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59255031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 239 (S239P)
Ref Sequence ENSEMBL: ENSMUSP00000109980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114341]
AlphaFold B2RXA8
Predicted Effect probably damaging
Transcript: ENSMUST00000114341
AA Change: S239P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: S239P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Neur_chan_LBD 57 264 3.8e-55 PFAM
Pfam:Neur_chan_memb 271 426 8.6e-31 PFAM
transmembrane domain 446 463 N/A INTRINSIC
Meta Mutation Damage Score 0.1027 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Gabrr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02816:Gabrr3 APN 16 59,260,830 (GRCm39) splice site probably benign
IGL02989:Gabrr3 APN 16 59,268,371 (GRCm39) missense probably damaging 0.98
IGL03048:Gabrr3 UTSW 16 59,250,493 (GRCm39) missense probably benign 0.00
PIT4791001:Gabrr3 UTSW 16 59,250,298 (GRCm39) critical splice acceptor site probably null
R0368:Gabrr3 UTSW 16 59,260,959 (GRCm39) missense probably damaging 0.99
R0976:Gabrr3 UTSW 16 59,281,887 (GRCm39) missense probably benign 0.34
R1104:Gabrr3 UTSW 16 59,281,998 (GRCm39) missense probably damaging 0.98
R1231:Gabrr3 UTSW 16 59,281,763 (GRCm39) missense probably benign 0.01
R1556:Gabrr3 UTSW 16 59,281,763 (GRCm39) missense probably benign 0.01
R2181:Gabrr3 UTSW 16 59,268,372 (GRCm39) missense probably damaging 0.98
R2336:Gabrr3 UTSW 16 59,250,313 (GRCm39) missense probably damaging 1.00
R3941:Gabrr3 UTSW 16 59,253,864 (GRCm39) missense probably damaging 1.00
R4572:Gabrr3 UTSW 16 59,282,001 (GRCm39) missense probably benign 0.09
R4747:Gabrr3 UTSW 16 59,268,277 (GRCm39) splice site probably null
R4786:Gabrr3 UTSW 16 59,250,463 (GRCm39) missense probably benign 0.44
R4845:Gabrr3 UTSW 16 59,246,833 (GRCm39) missense probably damaging 0.99
R5539:Gabrr3 UTSW 16 59,281,758 (GRCm39) missense probably benign
R5543:Gabrr3 UTSW 16 59,253,870 (GRCm39) missense probably damaging 1.00
R5979:Gabrr3 UTSW 16 59,254,931 (GRCm39) missense possibly damaging 0.81
R6211:Gabrr3 UTSW 16 59,268,471 (GRCm39) missense probably benign
R7338:Gabrr3 UTSW 16 59,268,439 (GRCm39) missense possibly damaging 0.70
R7456:Gabrr3 UTSW 16 59,227,853 (GRCm39) nonsense probably null
R8673:Gabrr3 UTSW 16 59,235,633 (GRCm39) missense possibly damaging 0.55
R9001:Gabrr3 UTSW 16 59,282,008 (GRCm39) missense probably benign 0.01
R9139:Gabrr3 UTSW 16 59,227,830 (GRCm39) missense probably benign 0.12
R9378:Gabrr3 UTSW 16 59,282,037 (GRCm39) missense possibly damaging 0.78
Z1176:Gabrr3 UTSW 16 59,227,845 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGGTATAAAGCATGGCTACAGC -3'
(R):5'- GCAGTTAGTCATGAGCTGGG -3'

Sequencing Primer
(F):5'- CCCTCACCTAACTTCTAACACGGG -3'
(R):5'- AGACCACTGAAAGGCCTTTGGTC -3'
Posted On 2014-10-02