Incidental Mutation 'R6033:Glra1'
ID480525
Institutional Source Beutler Lab
Gene Symbol Glra1
Ensembl Gene ENSMUSG00000000263
Gene Nameglycine receptor, alpha 1 subunit
SynonymsB230397M16Rik, ot, nmf11, oscillator
MMRRC Submission 044205-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.301) question?
Stock #R6033 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location55514238-55608198 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55527419 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 250 (Y250H)
Ref Sequence ENSEMBL: ENSMUSP00000099777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075603] [ENSMUST00000102716] [ENSMUST00000108853]
Predicted Effect probably damaging
Transcript: ENSMUST00000075603
AA Change: Y250H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: Y250H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Neur_chan_LBD 38 248 1.2e-55 PFAM
Pfam:Neur_chan_memb 255 400 2.8e-35 PFAM
PDB:2M6I|E 416 453 5e-17 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000102716
AA Change: Y250H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: Y250H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Neur_chan_LBD 39 248 7e-58 PFAM
Pfam:Neur_chan_memb 255 355 3.7e-38 PFAM
Pfam:Neur_chan_memb 344 435 1.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108853
AA Change: Y167H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: Y167H

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 1 165 1.6e-46 PFAM
Pfam:Neur_chan_memb 172 270 3.9e-38 PFAM
Pfam:Neur_chan_memb 254 352 7.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152968
Meta Mutation Damage Score 0.5821 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.9%
  • 20x: 89.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mutations in this gene result in neurological defects for all alleles reported. Specific alleles also show affects on viability, reproductive performance, and/or eye and respiratory physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700125H20Rik A G 11: 85,178,372 E72G probably damaging Het
Adgrl1 T A 8: 83,918,922 V58E probably damaging Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Alas1 A G 9: 106,241,204 S240P probably damaging Het
Alox12e C T 11: 70,316,013 G616D probably benign Het
Arhgap8 A G 15: 84,741,925 E67G probably damaging Het
Ash1l T C 3: 88,985,019 Y1402H probably damaging Het
Ccdc150 G T 1: 54,285,628 probably null Het
Cmtm8 T C 9: 114,796,073 T97A probably damaging Het
Cnmd T C 14: 79,661,505 S36G probably benign Het
Dnah3 A C 7: 120,071,647 N609K probably benign Het
Dph1 C T 11: 75,191,197 probably benign Het
Drosha G A 15: 12,925,999 A1225T probably benign Het
Eid3 T A 10: 82,867,653 I316K probably damaging Het
Erich6 A G 3: 58,623,201 L449S probably benign Het
Fhod1 T C 8: 105,336,434 probably benign Het
Gm6768 A G 12: 119,261,740 noncoding transcript Het
Hivep1 A G 13: 42,157,107 E941G probably benign Het
Homer2 A C 7: 81,618,679 S78A possibly damaging Het
Ica1 T A 6: 8,630,799 probably null Het
Ifna12 T C 4: 88,602,917 E131G possibly damaging Het
Igbp1b T C 6: 138,658,209 Y79C probably damaging Het
Incenp C T 19: 9,872,697 V871I probably damaging Het
Jaml G A 9: 45,088,710 G60D probably damaging Het
Kcp C T 6: 29,493,194 C110Y probably damaging Het
Manba T C 3: 135,549,261 V460A probably benign Het
Myrfl A T 10: 116,849,101 C125S probably benign Het
Ncan T C 8: 70,112,590 D229G probably damaging Het
Nlrp10 A T 7: 108,924,577 D565E probably benign Het
Npas2 T C 1: 39,338,180 V541A probably damaging Het
Nsg2 G A 11: 32,055,058 V87M possibly damaging Het
Olfr1040 A T 2: 86,146,269 V155E probably damaging Het
Prkd2 C T 7: 16,865,714 R701C probably damaging Het
Prss36 T C 7: 127,934,567 R22G probably benign Het
Psmd1 T C 1: 86,137,095 Y950H probably damaging Het
Slc45a4 G A 15: 73,581,976 A716V probably damaging Het
Slc46a1 T C 11: 78,466,007 probably null Het
Slc6a5 T C 7: 49,959,351 I768T probably benign Het
Slco6c1 C T 1: 97,081,316 probably null Het
Taar2 A T 10: 23,940,976 H138L probably benign Het
Taf2 A C 15: 55,058,901 L330R probably damaging Het
Tgm5 T C 2: 121,070,729 probably null Het
Tmed4 A T 11: 6,274,491 Y56* probably null Het
Tmem156 A T 5: 65,075,621 F135L probably benign Het
Ttll6 T C 11: 96,134,887 S65P probably damaging Het
Ttn C T 2: 76,726,827 G28199R probably damaging Het
Ubn2 T A 6: 38,470,224 probably null Het
Unc80 A T 1: 66,473,260 T110S possibly damaging Het
Vmn2r72 A T 7: 85,737,929 V809E probably damaging Het
Zbtb2 A G 10: 4,368,599 F476L probably damaging Het
Zbtb24 T C 10: 41,464,401 F498L probably damaging Het
Zfp280d T A 9: 72,329,137 L494Q probably damaging Het
Zfp281 T C 1: 136,626,726 S481P probably benign Het
Other mutations in Glra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Glra1 APN 11 55514889 missense possibly damaging 0.89
IGL02792:Glra1 APN 11 55536400 missense probably damaging 0.99
IGL03151:Glra1 APN 11 55527380 missense probably damaging 1.00
Adagio UTSW 11 55527419 missense probably damaging 1.00
R1331:Glra1 UTSW 11 55515070 missense probably benign
R1666:Glra1 UTSW 11 55574399 missense probably damaging 0.98
R4734:Glra1 UTSW 11 55536384 missense probably damaging 1.00
R4749:Glra1 UTSW 11 55536384 missense probably damaging 1.00
R4957:Glra1 UTSW 11 55527398 missense probably damaging 1.00
R5025:Glra1 UTSW 11 55536505 critical splice acceptor site probably null
R5496:Glra1 UTSW 11 55527415 missense probably damaging 1.00
R5533:Glra1 UTSW 11 55532382 missense possibly damaging 0.91
R5837:Glra1 UTSW 11 55536507 splice site probably null
R6023:Glra1 UTSW 11 55533853 missense probably damaging 1.00
R6033:Glra1 UTSW 11 55527419 missense probably damaging 1.00
R6575:Glra1 UTSW 11 55520996 missense probably damaging 0.99
R6971:Glra1 UTSW 11 55536499 nonsense probably null
R7166:Glra1 UTSW 11 55515078 missense probably benign 0.16
R7912:Glra1 UTSW 11 55520995 missense probably damaging 1.00
R7993:Glra1 UTSW 11 55520995 missense probably damaging 1.00
R8043:Glra1 UTSW 11 55533862 missense probably damaging 1.00
R8046:Glra1 UTSW 11 55536399 missense probably damaging 0.99
Predicted Primers
Posted On2017-06-26