Incidental Mutation 'R5533:Glra1'
ID 433764
Institutional Source Beutler Lab
Gene Symbol Glra1
Ensembl Gene ENSMUSG00000000263
Gene Name glycine receptor, alpha 1 subunit
Synonyms nmf11, B230397M16Rik, ot, oscillator
MMRRC Submission 043091-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.277) question?
Stock # R5533 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 55405065-55499024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55423208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 117 (E117G)
Ref Sequence ENSEMBL: ENSMUSP00000104481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075603] [ENSMUST00000102716] [ENSMUST00000108853]
AlphaFold Q64018
Predicted Effect possibly damaging
Transcript: ENSMUST00000075603
AA Change: E200G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: E200G

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 possibly damaging
Transcript: ENSMUST00000102716
AA Change: E200G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: E200G

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 possibly damaging
Transcript: ENSMUST00000108853
AA Change: E117G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: E117G

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
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.1%
  • 10x: 94.5%
  • 20x: 88.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 A G 10: 126,918,911 (GRCm39) E429G probably damaging Het
Akap12 T A 10: 4,307,405 (GRCm39) V1405D probably damaging Het
Akap7 C T 10: 25,159,880 (GRCm39) D107N possibly damaging Het
Arfgef1 A G 1: 10,269,952 (GRCm39) probably null Het
Cacna1s T A 1: 136,026,113 (GRCm39) probably null Het
Ctsd T C 7: 141,931,070 (GRCm39) Q274R probably benign Het
Dysf G A 6: 84,163,453 (GRCm39) R1575Q probably damaging Het
Erich6b A T 14: 75,896,274 (GRCm39) L53F possibly damaging Het
Exoc6 A C 19: 37,582,218 (GRCm39) probably null Het
Fbxw19 A T 9: 109,315,133 (GRCm39) V143E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fndc1 A G 17: 7,991,608 (GRCm39) F696S unknown Het
Foxa3 G T 7: 18,748,940 (GRCm39) Y102* probably null Het
Foxn1 A G 11: 78,256,792 (GRCm39) M301T probably damaging Het
Foxp2 C T 6: 15,197,119 (GRCm39) Q54* probably null Het
Glt1d1 A T 5: 127,768,095 (GRCm39) D234V probably damaging Het
Golm2 AGATGGTGATGGTG AGATGGTG 2: 121,756,178 (GRCm39) probably benign Het
Gulp1 T C 1: 44,812,441 (GRCm39) I137T probably damaging Het
Itga8 A G 2: 12,165,161 (GRCm39) V816A possibly damaging Het
Kdm4c G A 4: 74,233,886 (GRCm39) probably benign Het
Krtap19-2 A G 16: 88,670,996 (GRCm39) probably benign Het
Lcorl T C 5: 45,891,219 (GRCm39) N378S possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mocos T C 18: 24,807,357 (GRCm39) L363P probably damaging Het
Mycbp2 G T 14: 103,520,081 (GRCm39) Y745* probably null Het
Nav3 A C 10: 109,719,539 (GRCm39) N141K possibly damaging Het
Ncor1 T C 11: 62,233,837 (GRCm39) N779S probably benign Het
Nebl G T 2: 17,398,079 (GRCm39) Y414* probably null Het
Nf1 T G 11: 79,336,615 (GRCm39) C1065G probably damaging Het
Nfib A G 4: 82,278,004 (GRCm39) V216A probably damaging Het
Nub1 A T 5: 24,907,379 (GRCm39) N354I possibly damaging Het
Nyap1 C T 5: 137,733,726 (GRCm39) V436I probably benign Het
Or5m11b A G 2: 85,805,797 (GRCm39) D70G possibly damaging Het
Or5p73 T C 7: 108,065,469 (GRCm39) F313L probably benign Het
Pde2a T A 7: 101,155,187 (GRCm39) M570K probably damaging Het
Pfas T C 11: 68,882,296 (GRCm39) S856G probably benign Het
Pkd1l2 T C 8: 117,794,855 (GRCm39) E368G probably benign Het
Ptf1a G A 2: 19,451,969 (GRCm39) V323M probably damaging Het
Ptprh T C 7: 4,552,504 (GRCm39) Y920C probably damaging Het
Sergef T A 7: 46,264,200 (GRCm39) D229V possibly damaging Het
Slc1a4 T C 11: 20,254,417 (GRCm39) K483R probably benign Het
Slc26a6 G A 9: 108,735,155 (GRCm39) R351H probably damaging Het
Slc6a19 G A 13: 73,833,948 (GRCm39) T370I possibly damaging Het
Smpd5 T C 15: 76,178,757 (GRCm39) S42P possibly damaging Het
Snx13 G A 12: 35,173,025 (GRCm39) probably null Het
Sox10 G A 15: 79,040,502 (GRCm39) S185L probably benign Het
Spata31e5 T A 1: 28,817,163 (GRCm39) I290F probably damaging Het
Srpk1 T C 17: 28,821,733 (GRCm39) Y227C probably damaging Het
Stambpl1 T A 19: 34,211,316 (GRCm39) probably null Het
Stk36 A G 1: 74,665,750 (GRCm39) R698G possibly damaging Het
Tas2r122 T A 6: 132,688,393 (GRCm39) T167S probably damaging Het
Tlr12 A G 4: 128,509,656 (GRCm39) S865P probably damaging Het
Trp53bp1 A G 2: 121,038,227 (GRCm39) L1537P probably damaging Het
Vstm2a C A 11: 16,213,125 (GRCm39) T170K possibly damaging Het
Xpo7 A T 14: 70,931,407 (GRCm39) F304I probably damaging Het
Zfp286 T C 11: 62,671,796 (GRCm39) probably benign Het
Zfp985 A T 4: 147,667,440 (GRCm39) K103* probably null Het
Other mutations in Glra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Glra1 APN 11 55,405,715 (GRCm39) missense possibly damaging 0.89
IGL02792:Glra1 APN 11 55,427,226 (GRCm39) missense probably damaging 0.99
IGL03151:Glra1 APN 11 55,418,206 (GRCm39) missense probably damaging 1.00
Adagio UTSW 11 55,418,245 (GRCm39) missense probably damaging 1.00
R1331:Glra1 UTSW 11 55,405,896 (GRCm39) missense probably benign
R1666:Glra1 UTSW 11 55,465,225 (GRCm39) missense probably damaging 0.98
R4734:Glra1 UTSW 11 55,427,210 (GRCm39) missense probably damaging 1.00
R4749:Glra1 UTSW 11 55,427,210 (GRCm39) missense probably damaging 1.00
R4957:Glra1 UTSW 11 55,418,224 (GRCm39) missense probably damaging 1.00
R5025:Glra1 UTSW 11 55,427,331 (GRCm39) critical splice acceptor site probably null
R5496:Glra1 UTSW 11 55,418,241 (GRCm39) missense probably damaging 1.00
R5837:Glra1 UTSW 11 55,427,333 (GRCm39) splice site probably null
R6023:Glra1 UTSW 11 55,424,679 (GRCm39) missense probably damaging 1.00
R6033:Glra1 UTSW 11 55,418,245 (GRCm39) missense probably damaging 1.00
R6033:Glra1 UTSW 11 55,418,245 (GRCm39) missense probably damaging 1.00
R6575:Glra1 UTSW 11 55,411,822 (GRCm39) missense probably damaging 0.99
R6971:Glra1 UTSW 11 55,427,325 (GRCm39) nonsense probably null
R7166:Glra1 UTSW 11 55,405,904 (GRCm39) missense probably benign 0.16
R7912:Glra1 UTSW 11 55,411,821 (GRCm39) missense probably damaging 1.00
R7953:Glra1 UTSW 11 55,424,688 (GRCm39) missense probably damaging 1.00
R8043:Glra1 UTSW 11 55,424,688 (GRCm39) missense probably damaging 1.00
R8046:Glra1 UTSW 11 55,427,225 (GRCm39) missense probably damaging 0.99
R8758:Glra1 UTSW 11 55,418,191 (GRCm39) missense possibly damaging 0.80
R9520:Glra1 UTSW 11 55,405,897 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CACAGACCCATGCCATTCTG -3'
(R):5'- CAATCATTCTTTGCCATGGGG -3'

Sequencing Primer
(F):5'- CATTCTGTGGCTGGATGACCC -3'
(R):5'- AGGGCTGGGGAATTAATTTAAAC -3'
Posted On 2016-10-06