Incidental Mutation 'R7953:Glra1'
ID 649676
Institutional Source Beutler Lab
Gene Symbol Glra1
Ensembl Gene ENSMUSG00000000263
Gene Name glycine receptor, alpha 1 subunit
Synonyms nmf11, B230397M16Rik, ot, oscillator
MMRRC Submission 045997-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.277) question?
Stock # R7953 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 55405065-55499024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55424688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 174 (P174L)
Ref Sequence ENSEMBL: ENSMUSP00000075032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075603] [ENSMUST00000102716] [ENSMUST00000108853]
AlphaFold Q64018
Predicted Effect probably damaging
Transcript: ENSMUST00000075603
AA Change: P174L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: P174L

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: P174L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: P174L

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: P91L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: P91L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
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
4933430I17Rik A G 4: 62,450,896 (GRCm39) R120G probably null Het
Abcb9 T C 5: 124,211,665 (GRCm39) Y628C probably damaging Het
Adrm1b A T 3: 92,336,637 (GRCm39) Y22N probably benign Het
Alpk2 C T 18: 65,482,901 (GRCm39) C369Y probably damaging Het
Caskin1 T G 17: 24,723,195 (GRCm39) L661R probably damaging Het
Cep83 A C 10: 94,573,804 (GRCm39) N231T probably damaging Het
Cfap44 G A 16: 44,234,054 (GRCm39) G338D probably benign Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Col4a4 A G 1: 82,431,689 (GRCm39) S1532P unknown Het
Cplx4 A T 18: 66,090,190 (GRCm39) probably null Het
Csf1r G C 18: 61,257,947 (GRCm39) G639R probably damaging Het
Dnajc27 T C 12: 4,147,270 (GRCm39) L151P possibly damaging Het
Epha5 A G 5: 84,381,513 (GRCm39) V446A probably benign Het
Esam T C 9: 37,448,317 (GRCm39) V252A probably damaging Het
Flnc C A 6: 29,447,828 (GRCm39) D1210E probably damaging Het
Fmn1 G A 2: 113,426,689 (GRCm39) M1233I probably benign Het
Fstl4 T C 11: 52,891,050 (GRCm39) S63P probably benign Het
Gas2l2 A G 11: 83,314,070 (GRCm39) V414A possibly damaging Het
Gm16485 A T 9: 8,972,196 (GRCm39) N21Y unknown Het
Golga7 A T 8: 23,746,731 (GRCm39) C24S possibly damaging Het
Ints8 T C 4: 11,227,128 (GRCm39) T582A probably benign Het
Irx2 A T 13: 72,777,343 (GRCm39) T55S probably benign Het
Lce1j A T 3: 92,696,390 (GRCm39) C129* probably null Het
Mettl25b T C 3: 87,834,955 (GRCm39) N115S possibly damaging Het
Mocs1 G A 17: 49,761,799 (GRCm39) G631E possibly damaging Het
Mpi A T 9: 57,457,881 (GRCm39) L107Q probably damaging Het
Msrb2 A G 2: 19,399,166 (GRCm39) *176W probably null Het
Myh13 T A 11: 67,231,206 (GRCm39) L401Q probably damaging Het
Npffr2 G A 5: 89,730,513 (GRCm39) V148I probably benign Het
Oas1a T C 5: 121,035,080 (GRCm39) E360G probably benign Het
Or4k15c A T 14: 50,321,367 (GRCm39) I257N possibly damaging Het
Or5b96 A C 19: 12,867,095 (GRCm39) V282G probably damaging Het
Or9g20 A T 2: 85,630,239 (GRCm39) I125N probably damaging Het
Pcdha2 A G 18: 37,072,579 (GRCm39) D70G probably benign Het
Phf11b T C 14: 59,568,722 (GRCm39) S64G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plpp2 A C 10: 79,366,374 (GRCm39) L146R possibly damaging Het
Poc5 T A 13: 96,539,408 (GRCm39) N316K probably benign Het
Rad51ap2 A T 12: 11,512,593 (GRCm39) R947* probably null Het
Ralgapb A G 2: 158,307,803 (GRCm39) H1037R probably benign Het
Rpl21 T C 5: 146,772,702 (GRCm39) V141A probably benign Het
Rufy3 C A 5: 88,790,851 (GRCm39) D517E probably benign Het
Scn7a A G 2: 66,587,670 (GRCm39) V11A possibly damaging Het
Sipa1l1 A C 12: 82,496,700 (GRCm39) Q1744P probably damaging Het
Smc2 T C 4: 52,470,911 (GRCm39) probably null Het
Sorcs3 T A 19: 48,752,734 (GRCm39) L843Q possibly damaging Het
Strc A T 2: 121,207,844 (GRCm39) F509Y probably damaging Het
Tas2r117 A C 6: 132,780,281 (GRCm39) T140P probably damaging Het
Tnxb T A 17: 34,928,509 (GRCm39) I2641N possibly damaging Het
Tnxb C A 17: 34,929,077 (GRCm39) P2707T probably benign Het
Vmn1r4 T A 6: 56,933,515 (GRCm39) N6K probably benign Het
Vmn1r91 T A 7: 19,835,218 (GRCm39) S46T possibly damaging Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A probably benign 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
R5533:Glra1 UTSW 11 55,423,208 (GRCm39) missense possibly damaging 0.91
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
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'- AATGCAAGCCCCTCACTTG -3'
(R):5'- CCTCTGACTGGTGACTTTGG -3'

Sequencing Primer
(F):5'- CCTCACTTGGCACGTTGAG -3'
(R):5'- ACTGGTGACTTTGGGCCAC -3'
Posted On 2020-09-15