Incidental Mutation 'R5330:Gabrr2'
ID 423119
Institutional Source Beutler Lab
Gene Symbol Gabrr2
Ensembl Gene ENSMUSG00000023267
Gene Name gamma-aminobutyric acid type A receptor subunit rho 2
Synonyms
MMRRC Submission 042912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5330 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 33062999-33095865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33082583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 236 (K236E)
Ref Sequence ENSEMBL: ENSMUSP00000024035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024035] [ENSMUST00000108162] [ENSMUST00000131920]
AlphaFold P56476
Predicted Effect possibly damaging
Transcript: ENSMUST00000024035
AA Change: K236E

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024035
Gene: ENSMUSG00000023267
AA Change: K236E

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 81 286 3.4e-53 PFAM
Pfam:Neur_chan_memb 293 454 1.9e-32 PFAM
transmembrane domain 472 489 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108162
AA Change: K211E

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103797
Gene: ENSMUSG00000023267
AA Change: K211E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 57 261 9.7e-57 PFAM
Pfam:Neur_chan_memb 268 414 4.2e-36 PFAM
transmembrane domain 447 464 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000131920
AA Change: K112E

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118514
Gene: ENSMUSG00000023267
AA Change: K112E

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 162 3.3e-46 PFAM
Pfam:Neur_chan_memb 169 204 3.5e-14 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000147889
AA Change: K56E
SMART Domains Protein: ENSMUSP00000114337
Gene: ENSMUSG00000023267
AA Change: K56E

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 107 7.1e-28 PFAM
Pfam:Neur_chan_memb 114 219 1.1e-33 PFAM
Meta Mutation Damage Score 0.0738 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (95/96)
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 receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2m A G 6: 121,615,375 (GRCm39) D83G probably benign Het
Abca16 T A 7: 120,102,600 (GRCm39) I833N probably benign Het
Adam6b C A 12: 113,454,200 (GRCm39) P339H possibly damaging Het
Adgrb2 A T 4: 129,915,995 (GRCm39) H1505L possibly damaging Het
Aktip A T 8: 91,853,352 (GRCm39) F122I probably damaging Het
Ankrd27 T A 7: 35,315,351 (GRCm39) L500* probably null Het
Blm T C 7: 80,108,684 (GRCm39) E55G possibly damaging Het
Carmil1 A T 13: 24,209,929 (GRCm39) probably null Het
Cdca7 T C 2: 72,315,042 (GRCm39) C311R probably damaging Het
Cds1 T C 5: 101,946,361 (GRCm39) S187P probably damaging Het
Chuk A T 19: 44,067,394 (GRCm39) V587E probably damaging Het
Commd10 T C 18: 47,093,497 (GRCm39) V19A probably damaging Het
Ctnnd2 C T 15: 30,332,261 (GRCm39) T48I probably damaging Het
Cyp2b10 T A 7: 25,613,414 (GRCm39) Y203* probably null Het
Dchs1 A T 7: 105,403,809 (GRCm39) V2911E probably damaging Het
Dnah12 G A 14: 26,495,787 (GRCm39) E1472K probably damaging Het
Dnah3 T C 7: 119,542,871 (GRCm39) T3514A probably benign Het
Dnah6 T A 6: 73,051,573 (GRCm39) I3074F probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elp1 T C 4: 56,800,001 (GRCm39) T42A probably benign Het
Fam131c A T 4: 141,110,141 (GRCm39) T180S probably benign Het
Fbxo41 T C 6: 85,456,888 (GRCm39) E427G probably benign Het
Gm10152 A T 7: 144,317,283 (GRCm39) noncoding transcript Het
Gm10313 T A 8: 46,708,490 (GRCm39) noncoding transcript Het
Gm5414 C A 15: 101,533,099 (GRCm39) V443F probably damaging Het
Gm7334 T C 17: 51,006,160 (GRCm39) S149P possibly damaging Het
Grik2 G A 10: 49,008,867 (GRCm39) T740M probably damaging Het
Hdac5 T C 11: 102,088,180 (GRCm39) Y930C probably damaging Het
Hepacam2 T C 6: 3,483,377 (GRCm39) T211A probably benign Het
Herc4 G T 10: 63,143,578 (GRCm39) E703* probably null Het
Hivep2 A G 10: 14,007,164 (GRCm39) K1254R probably damaging Het
Hras T C 7: 140,772,853 (GRCm39) M1V probably null Het
Il23r T G 6: 67,400,479 (GRCm39) Q617P probably damaging Het
Kank1 A G 19: 25,388,693 (GRCm39) T789A probably damaging Het
Kcnj12 A G 11: 60,961,012 (GRCm39) K437E probably benign Het
Lct A T 1: 128,226,266 (GRCm39) D1374E probably benign Het
Luc7l C A 17: 26,494,707 (GRCm39) C104* probably null Het
Lurap1 G A 4: 116,001,601 (GRCm39) L31F probably damaging Het
Mark4 G A 7: 19,170,908 (GRCm39) P321S probably damaging Het
Med18 A G 4: 132,190,377 (GRCm39) probably benign Het
Mia2 A G 12: 59,142,598 (GRCm39) S5G probably benign Het
Mrgprb3 T C 7: 48,292,682 (GRCm39) T290A possibly damaging Het
Ms4a20 A G 19: 11,069,222 (GRCm39) probably benign Het
Negr1 A T 3: 156,774,913 (GRCm39) K210* probably null Het
Nktr T C 9: 121,581,834 (GRCm39) probably benign Het
Nob1 T G 8: 108,142,881 (GRCm39) T267P probably damaging Het
Nos3 A G 5: 24,574,902 (GRCm39) E307G probably damaging Het
Nrxn2 A G 19: 6,540,111 (GRCm39) T796A probably damaging Het
Nwd2 C A 5: 63,963,859 (GRCm39) L1148I probably benign Het
Pcdh17 T A 14: 84,770,486 (GRCm39) V988E probably damaging Het
Pcdha4 G A 18: 37,087,755 (GRCm39) R646H probably benign Het
Per3 G T 4: 151,125,759 (GRCm39) L187I probably damaging Het
Phlpp2 A G 8: 110,660,667 (GRCm39) D774G probably damaging Het
Pibf1 T C 14: 99,378,082 (GRCm39) Y403H probably damaging Het
Plcl2 G A 17: 50,816,876 (GRCm39) A81T probably benign Het
Polr2a T C 11: 69,638,101 (GRCm39) N123D probably benign Het
Psma5 T G 3: 108,175,386 (GRCm39) V146G possibly damaging Het
Ptprk A T 10: 28,463,076 (GRCm39) D189V probably damaging Het
Relb C T 7: 19,340,630 (GRCm39) G509S possibly damaging Het
Rgs11 A T 17: 26,421,947 (GRCm39) M1L probably benign Het
Rhbg T A 3: 88,152,775 (GRCm39) T313S probably benign Het
Ripply2 T A 9: 86,897,691 (GRCm39) probably benign Het
Scap T C 9: 110,210,701 (GRCm39) V1011A probably benign Het
Scarf1 G A 11: 75,406,406 (GRCm39) G230D probably damaging Het
Sel1l3 A T 5: 53,343,351 (GRCm39) Y314N possibly damaging Het
Slc17a8 A G 10: 89,425,356 (GRCm39) probably null Het
Slc22a14 A T 9: 119,059,662 (GRCm39) L153Q probably damaging Het
Slc22a27 A G 19: 7,856,820 (GRCm39) I406T probably benign Het
Slc30a6 A G 17: 74,730,190 (GRCm39) D355G probably benign Het
Snta1 C A 2: 154,219,940 (GRCm39) E403* probably null Het
Socs7 A G 11: 97,268,852 (GRCm39) D382G possibly damaging Het
Spata31d1a A T 13: 59,848,217 (GRCm39) C1304S possibly damaging Het
Srebf2 T A 15: 82,080,409 (GRCm39) I834N possibly damaging Het
Steap1 G T 5: 5,790,422 (GRCm39) H175Q probably damaging Het
Sult2a8 T C 7: 14,147,679 (GRCm39) E204G possibly damaging Het
Tacc2 T C 7: 130,335,258 (GRCm39) S524P probably damaging Het
Tbc1d9b C T 11: 50,037,140 (GRCm39) A263V probably benign Het
Tecta A C 9: 42,249,152 (GRCm39) D1903E probably damaging Het
Tmem222 A C 4: 133,004,935 (GRCm39) M34R possibly damaging Het
Tnik A G 3: 28,596,167 (GRCm39) T187A probably damaging Het
Trpv4 A G 5: 114,773,604 (GRCm39) Y253H probably damaging Het
Trpv5 G A 6: 41,637,266 (GRCm39) R358C probably benign Het
Ttll13 T C 7: 79,910,257 (GRCm39) V800A probably benign Het
Ush2a G A 1: 188,460,578 (GRCm39) G2613E probably benign Het
Vmn2r58 G A 7: 41,513,384 (GRCm39) Q420* probably null Het
Zranb3 G A 1: 127,887,457 (GRCm39) P990L probably damaging Het
Zswim9 T A 7: 12,993,912 (GRCm39) D748V probably damaging Het
Other mutations in Gabrr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Gabrr2 APN 4 33,085,626 (GRCm39) missense probably damaging 1.00
IGL02070:Gabrr2 APN 4 33,095,340 (GRCm39) nonsense probably null
IGL03283:Gabrr2 APN 4 33,082,364 (GRCm39) splice site probably benign
D3080:Gabrr2 UTSW 4 33,084,466 (GRCm39) missense probably damaging 1.00
R1250:Gabrr2 UTSW 4 33,063,273 (GRCm39) missense probably benign 0.20
R1381:Gabrr2 UTSW 4 33,081,420 (GRCm39) missense probably damaging 1.00
R1630:Gabrr2 UTSW 4 33,085,647 (GRCm39) missense probably damaging 1.00
R1782:Gabrr2 UTSW 4 33,085,593 (GRCm39) missense probably damaging 1.00
R1830:Gabrr2 UTSW 4 33,077,481 (GRCm39) missense probably damaging 1.00
R2000:Gabrr2 UTSW 4 33,084,400 (GRCm39) missense probably damaging 1.00
R2125:Gabrr2 UTSW 4 33,095,548 (GRCm39) missense probably damaging 1.00
R2679:Gabrr2 UTSW 4 33,071,435 (GRCm39) missense probably damaging 1.00
R3695:Gabrr2 UTSW 4 33,071,430 (GRCm39) missense probably damaging 1.00
R3891:Gabrr2 UTSW 4 33,081,348 (GRCm39) missense probably damaging 1.00
R3892:Gabrr2 UTSW 4 33,081,348 (GRCm39) missense probably damaging 1.00
R4902:Gabrr2 UTSW 4 33,095,512 (GRCm39) missense probably damaging 1.00
R5328:Gabrr2 UTSW 4 33,082,565 (GRCm39) missense probably damaging 1.00
R5331:Gabrr2 UTSW 4 33,082,583 (GRCm39) missense possibly damaging 0.87
R5399:Gabrr2 UTSW 4 33,071,458 (GRCm39) critical splice donor site probably null
R7299:Gabrr2 UTSW 4 33,095,284 (GRCm39) missense probably benign 0.02
R7301:Gabrr2 UTSW 4 33,095,284 (GRCm39) missense probably benign 0.02
R7605:Gabrr2 UTSW 4 33,082,560 (GRCm39) missense probably damaging 1.00
R7697:Gabrr2 UTSW 4 33,071,358 (GRCm39) missense probably benign
R7860:Gabrr2 UTSW 4 33,081,470 (GRCm39) nonsense probably null
R7957:Gabrr2 UTSW 4 33,081,410 (GRCm39) missense probably damaging 0.99
R8161:Gabrr2 UTSW 4 33,082,566 (GRCm39) missense probably damaging 1.00
R8185:Gabrr2 UTSW 4 33,082,330 (GRCm39) missense probably damaging 1.00
R8463:Gabrr2 UTSW 4 33,084,375 (GRCm39) missense probably damaging 1.00
R8700:Gabrr2 UTSW 4 33,095,488 (GRCm39) missense probably damaging 0.97
R8778:Gabrr2 UTSW 4 33,095,517 (GRCm39) missense probably damaging 1.00
R9137:Gabrr2 UTSW 4 33,095,571 (GRCm39) missense probably benign 0.36
R9366:Gabrr2 UTSW 4 33,085,771 (GRCm39) missense
R9484:Gabrr2 UTSW 4 33,071,352 (GRCm39) missense possibly damaging 0.64
R9528:Gabrr2 UTSW 4 33,081,483 (GRCm39) missense probably benign 0.01
R9704:Gabrr2 UTSW 4 33,063,305 (GRCm39) missense possibly damaging 0.58
X0017:Gabrr2 UTSW 4 33,082,328 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAACATGGACTTCAGCCAC -3'
(R):5'- TATTCGGATGGTCCACACCC -3'

Sequencing Primer
(F):5'- CCAGACCTGCTCTTTGGAG -3'
(R):5'- CCCTATGTGTTGGAAGTGGCAAAG -3'
Posted On 2016-08-04