Incidental Mutation 'R4845:Gabrr3'
ID 372133
Institutional Source Beutler Lab
Gene Symbol Gabrr3
Ensembl Gene ENSMUSG00000074991
Gene Name gamma-aminobutyric acid type A receptor subunit rho 3
Synonyms
MMRRC Submission 042458-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4845 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 59227745-59282102 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59246833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 94 (I94T)
Ref Sequence ENSEMBL: ENSMUSP00000109980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114341]
AlphaFold B2RXA8
Predicted Effect probably damaging
Transcript: ENSMUST00000114341
AA Change: I94T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: I94T

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,333,057 (GRCm39) S600F possibly damaging Het
Arhgap21 T A 2: 20,885,998 (GRCm39) N393I probably damaging Het
Atp5pf T A 16: 84,628,365 (GRCm39) I6F possibly damaging Het
B4galt6 A G 18: 20,821,517 (GRCm39) L337S probably benign Het
C8b G T 4: 104,649,009 (GRCm39) V308F possibly damaging Het
Cables1 A G 18: 12,077,545 (GRCm39) R558G probably damaging Het
Chmp2b T A 16: 65,347,862 (GRCm39) Q38L probably damaging Het
Clca3b A T 3: 144,531,031 (GRCm39) I773K probably benign Het
Cnmd T C 14: 79,899,448 (GRCm39) T2A probably benign Het
Crb1 C T 1: 139,170,772 (GRCm39) D812N probably benign Het
Dnah7c T A 1: 46,832,692 (GRCm39) D3901E probably damaging Het
Dst T C 1: 34,232,208 (GRCm39) V3445A probably benign Het
Epn1 T A 7: 5,096,908 (GRCm39) I230N possibly damaging Het
Exoc6b G T 6: 84,812,119 (GRCm39) D627E probably benign Het
Exosc1 T C 19: 41,919,797 (GRCm39) K74E possibly damaging Het
Extl3 T C 14: 65,315,024 (GRCm39) T53A probably benign Het
Fam227a C T 15: 79,533,912 (GRCm39) R17H probably damaging Het
Faxc G T 4: 21,993,358 (GRCm39) W334L probably damaging Het
Ifi203 A T 1: 173,754,595 (GRCm39) M298K probably benign Het
Igkv4-78 A T 6: 69,037,207 (GRCm39) M1K probably null Het
Iqcm G T 8: 76,472,980 (GRCm39) R273I probably damaging Het
Itga1 G T 13: 115,110,708 (GRCm39) S961* probably null Het
Jmy T A 13: 93,576,246 (GRCm39) M886L possibly damaging Het
Lrp2 T C 2: 69,339,585 (GRCm39) T1109A possibly damaging Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Mettl14 T A 3: 123,165,004 (GRCm39) E112V probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Musk A G 4: 58,296,679 (GRCm39) D93G probably damaging Het
Myoc C T 1: 162,475,034 (GRCm39) T195M possibly damaging Het
Ncapg2 A G 12: 116,404,208 (GRCm39) D893G probably damaging Het
Nrap C T 19: 56,339,902 (GRCm39) V908M probably benign Het
Or4a79 T C 2: 89,552,120 (GRCm39) I112V probably benign Het
Or52n5 T C 7: 104,588,570 (GRCm39) V279A possibly damaging Het
Or5g9 T A 2: 85,551,836 (GRCm39) L29* probably null Het
Orc4 T C 2: 48,799,478 (GRCm39) N333S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 G A 18: 37,489,771 (GRCm39) G483D probably benign Het
Pclo A T 5: 14,729,132 (GRCm39) probably benign Het
Ppm1k A T 6: 57,499,753 (GRCm39) Y174* probably null Het
Ptprq A T 10: 107,489,393 (GRCm39) S911T probably benign Het
Rp1 C A 1: 4,419,451 (GRCm39) A554S probably benign Het
Sema3f T C 9: 107,562,700 (GRCm39) Y427C probably damaging Het
Slc12a1 A T 2: 125,030,146 (GRCm39) I573F probably damaging Het
Slc17a1 A T 13: 24,060,601 (GRCm39) Y201F probably damaging Het
Slc4a7 A T 14: 14,733,803 (GRCm38) H71L probably damaging Het
Spata6l G T 19: 28,905,148 (GRCm39) D305E probably benign Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tab1 C T 15: 80,036,964 (GRCm39) R217W probably damaging Het
Taf6 T A 5: 138,180,909 (GRCm39) Y224F possibly damaging Het
Tmc5 C G 7: 118,241,604 (GRCm39) F432L probably damaging Het
Trbc1 A T 6: 41,516,169 (GRCm39) probably benign Het
Trbv21 A G 6: 41,179,879 (GRCm39) N65S probably benign Het
Trim15 G A 17: 37,177,875 (GRCm39) P40L probably benign Het
Txnip T C 3: 96,466,916 (GRCm39) S197P probably benign Het
Vmn1r167 T A 7: 23,204,158 (GRCm39) Q286L probably benign Het
Wnt9a A G 11: 59,222,067 (GRCm39) I322V probably benign Het
Zfp879 T C 11: 50,724,672 (GRCm39) E128G probably 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
R2185:Gabrr3 UTSW 16 59,255,031 (GRCm39) missense probably damaging 1.00
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
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'- GCCATGATGATTGGAGCACC -3'
(R):5'- AGGGTGTTTTACTGGAAGCC -3'

Sequencing Primer
(F):5'- GGAGCACCATTTATTATCACCTGAGC -3'
(R):5'- GGTGTTTTACTGGAAGCCATAAAAG -3'
Posted On 2016-03-01