Incidental Mutation 'R0003:Glrb'
ID 32297
Institutional Source Beutler Lab
Gene Symbol Glrb
Ensembl Gene ENSMUSG00000028020
Gene Name glycine receptor, beta subunit
Synonyms
MMRRC Submission 038299-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0003 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 80750906-80820967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80763221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 259 (I259F)
Ref Sequence ENSEMBL: ENSMUSP00000103372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029654] [ENSMUST00000107743] [ENSMUST00000135043] [ENSMUST00000194085]
AlphaFold P48168
Predicted Effect probably damaging
Transcript: ENSMUST00000029654
AA Change: I259F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029654
Gene: ENSMUSG00000028020
AA Change: I259F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
Pfam:Neur_chan_LBD 56 266 6.9e-55 PFAM
Pfam:Neur_chan_memb 273 492 4.2e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107743
AA Change: I259F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103372
Gene: ENSMUSG00000028020
AA Change: I259F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
Pfam:Neur_chan_LBD 56 266 5.7e-58 PFAM
Pfam:Neur_chan_memb 273 302 9.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135043
SMART Domains Protein: ENSMUSP00000116604
Gene: ENSMUSG00000028020

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193031
Predicted Effect probably benign
Transcript: ENSMUST00000194085
SMART Domains Protein: ENSMUSP00000142306
Gene: ENSMUSG00000028020

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
Pfam:Neur_chan_LBD 56 264 6.9e-55 PFAM
Pfam:Neur_chan_memb 248 441 1.1e-22 PFAM
Meta Mutation Damage Score 0.1239 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.7%
Validation Efficiency 94% (82/87)
MGI Phenotype FUNCTION: This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. This gene is transcribed throughout the central nervous system of neonatal and adult mice. In humans, mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mutations in this gene result in a neurological disorder and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T A 11: 46,019,616 (GRCm39) C439S probably damaging Het
Adnp2 T C 18: 80,174,205 (GRCm39) Y68C probably damaging Het
Ahctf1 A T 1: 179,591,038 (GRCm39) D1247E probably benign Het
Alms1 T A 6: 85,606,192 (GRCm39) M2614K possibly damaging Het
Alx3 A G 3: 107,512,292 (GRCm39) H310R probably damaging Het
Ambra1 C T 2: 91,741,773 (GRCm39) T1016M probably damaging Het
Ankrd35 A G 3: 96,591,331 (GRCm39) E539G probably damaging Het
Aptx A G 4: 40,695,145 (GRCm39) probably benign Het
Arsi C T 18: 61,050,058 (GRCm39) R314C probably benign Het
Atp1a3 T C 7: 24,688,989 (GRCm39) probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bicra G T 7: 15,705,812 (GRCm39) T1543K probably benign Het
Bltp2 T A 11: 78,177,404 (GRCm39) V1903E possibly damaging Het
Bzw2 A C 12: 36,180,014 (GRCm39) I71S probably damaging Het
Camk2a C T 18: 61,093,079 (GRCm39) A302V probably damaging Het
Ccdc12 A G 9: 110,485,665 (GRCm39) E12G possibly damaging Het
Cd300lb A T 11: 114,819,164 (GRCm39) F19Y probably benign Het
Clcn3 A T 8: 61,380,330 (GRCm39) C535* probably null Het
Cntnap5c A G 17: 58,506,012 (GRCm39) T679A probably benign Het
Cpsf7 G A 19: 10,516,993 (GRCm39) S365N possibly damaging Het
Cspg4b T A 13: 113,505,310 (GRCm39) S2146R probably benign Het
Cyp20a1 T C 1: 60,426,285 (GRCm39) probably benign Het
Decr2 A T 17: 26,302,027 (GRCm39) N234K probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dnah12 T C 14: 26,494,601 (GRCm39) F1300L probably damaging Het
Dock1 T C 7: 134,331,793 (GRCm39) probably benign Het
Dpy19l4 A T 4: 11,267,619 (GRCm39) N440K probably damaging Het
Eprs1 T C 1: 185,146,588 (GRCm39) V1206A probably damaging Het
Exoc6b A G 6: 84,831,681 (GRCm39) probably null Het
Fam184b A G 5: 45,712,536 (GRCm39) probably benign Het
Fcho1 A T 8: 72,161,597 (GRCm39) S858T probably damaging Het
Fgfr1 A G 8: 26,058,214 (GRCm39) D430G possibly damaging Het
Fmnl3 T C 15: 99,219,013 (GRCm39) T807A probably damaging Het
Gabra5 T C 7: 57,063,476 (GRCm39) Y316C probably damaging Het
Gh A G 11: 106,192,346 (GRCm39) L16P probably damaging Het
Glipr2 A T 4: 43,970,532 (GRCm39) I87F probably damaging Het
Gpr63 T C 4: 25,007,651 (GRCm39) L125P probably damaging Het
Grb2 A G 11: 115,546,251 (GRCm39) Y37H probably damaging Het
Haus2 G A 2: 120,449,449 (GRCm39) probably benign Het
Hmgcr T C 13: 96,788,653 (GRCm39) N749S probably damaging Het
Igf1r T C 7: 67,814,990 (GRCm39) V297A probably damaging Het
Il12rb2 G T 6: 67,293,270 (GRCm39) P69H probably damaging Het
Ints3 C A 3: 90,315,818 (GRCm39) M315I probably benign Het
Izumo2 C T 7: 44,364,833 (GRCm39) T116I probably benign Het
Kctd19 A C 8: 106,121,993 (GRCm39) Y185D probably damaging Het
Lama4 A G 10: 38,936,218 (GRCm39) N631S possibly damaging Het
Lama5 T G 2: 179,819,872 (GRCm39) probably null Het
Lamc1 A C 1: 153,138,185 (GRCm39) L223R probably damaging Het
Lgr4 G A 2: 109,828,010 (GRCm39) probably null Het
Loxhd1 T C 18: 77,427,196 (GRCm39) L398P probably damaging Het
Mapk9 T A 11: 49,757,866 (GRCm39) D103E possibly damaging Het
Marchf6 T C 15: 31,469,678 (GRCm39) probably benign Het
Mlxipl G A 5: 135,162,043 (GRCm39) probably benign Het
Mrgbp C A 2: 180,225,231 (GRCm39) D62E probably benign Het
Mtap A T 4: 89,070,235 (GRCm39) probably benign Het
Myt1 G A 2: 181,443,664 (GRCm39) G497S probably damaging Het
Naa25 T G 5: 121,545,247 (GRCm39) probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nkpd1 T C 7: 19,253,852 (GRCm39) C73R probably benign Het
Nup210l T C 3: 90,027,218 (GRCm39) I200T probably damaging Het
Nvl C A 1: 180,941,698 (GRCm39) D581Y probably damaging Het
Or51a6 T C 7: 102,604,185 (GRCm39) M208V probably benign Het
Or51f2 T C 7: 102,527,068 (GRCm39) V247A probably benign Het
Or5t17 T A 2: 86,832,710 (GRCm39) Y132* probably null Het
Or8b1c A G 9: 38,384,612 (GRCm39) T190A probably benign Het
Or9q1 T C 19: 13,805,050 (GRCm39) T237A probably damaging Het
Pcdh7 G T 5: 58,070,590 (GRCm39) E1089D probably benign Het
Pik3cd A G 4: 149,740,836 (GRCm39) probably null Het
Plekhh2 A T 17: 84,864,820 (GRCm39) K69N probably damaging Het
Ptgdr2 G A 19: 10,917,792 (GRCm39) C103Y probably damaging Het
Rrad A C 8: 105,355,299 (GRCm39) H236Q probably benign Het
Rslcan18 C T 13: 67,246,533 (GRCm39) A236T probably benign Het
Ryr2 C A 13: 11,839,265 (GRCm39) D503Y probably damaging Het
Siglec1 T C 2: 130,916,980 (GRCm39) T1092A probably benign Het
Siglecf A G 7: 43,005,350 (GRCm39) T437A probably benign Het
Spta1 A T 1: 174,032,839 (GRCm39) Q965H probably damaging Het
Stk10 A T 11: 32,539,460 (GRCm39) E280V probably benign Het
Tfg T C 16: 56,511,351 (GRCm39) Y326C possibly damaging Het
Tpp2 T A 1: 43,999,299 (GRCm39) S358T possibly damaging Het
Trim25 G T 11: 88,906,598 (GRCm39) V437L probably benign Het
Ttn T C 2: 76,574,027 (GRCm39) D25622G probably damaging Het
Ube3b T A 5: 114,536,912 (GRCm39) S303R probably benign Het
Ush2a T A 1: 188,310,688 (GRCm39) V2088D probably damaging Het
Vmn2r103 A G 17: 20,032,241 (GRCm39) T672A probably damaging Het
Wdr11 G T 7: 129,200,785 (GRCm39) G79C probably damaging Het
Wdr89 T A 12: 75,679,367 (GRCm39) T296S probably benign Het
Zdhhc24 T A 19: 4,930,402 (GRCm39) L179M possibly damaging Het
Zfp981 T C 4: 146,622,217 (GRCm39) C381R probably damaging Het
Zim1 A G 7: 6,679,947 (GRCm39) I572T probably benign Het
Other mutations in Glrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Glrb APN 3 80,769,262 (GRCm39) missense probably damaging 1.00
IGL00850:Glrb APN 3 80,769,088 (GRCm39) missense probably damaging 1.00
IGL01970:Glrb APN 3 80,769,232 (GRCm39) missense possibly damaging 0.92
IGL02023:Glrb APN 3 80,758,262 (GRCm39) missense probably benign 0.22
IGL02494:Glrb APN 3 80,752,539 (GRCm39) missense probably benign 0.01
IGL02703:Glrb APN 3 80,758,300 (GRCm39) missense probably benign 0.19
I1329:Glrb UTSW 3 80,769,381 (GRCm39) missense probably damaging 1.00
R0010:Glrb UTSW 3 80,767,622 (GRCm39) splice site probably benign
R0010:Glrb UTSW 3 80,767,622 (GRCm39) splice site probably benign
R0743:Glrb UTSW 3 80,786,987 (GRCm39) missense probably damaging 1.00
R1367:Glrb UTSW 3 80,769,311 (GRCm39) missense probably damaging 1.00
R1491:Glrb UTSW 3 80,819,282 (GRCm39) missense possibly damaging 0.81
R1699:Glrb UTSW 3 80,769,081 (GRCm39) missense probably damaging 1.00
R1791:Glrb UTSW 3 80,767,482 (GRCm39) missense probably damaging 1.00
R1802:Glrb UTSW 3 80,769,264 (GRCm39) missense probably damaging 1.00
R2420:Glrb UTSW 3 80,767,542 (GRCm39) missense probably damaging 0.97
R2422:Glrb UTSW 3 80,767,542 (GRCm39) missense probably damaging 0.97
R2517:Glrb UTSW 3 80,769,054 (GRCm39) missense probably damaging 1.00
R3612:Glrb UTSW 3 80,769,337 (GRCm39) missense possibly damaging 0.89
R4287:Glrb UTSW 3 80,752,539 (GRCm39) missense possibly damaging 0.84
R4382:Glrb UTSW 3 80,786,946 (GRCm39) missense probably damaging 1.00
R4546:Glrb UTSW 3 80,786,993 (GRCm39) missense probably damaging 0.99
R4874:Glrb UTSW 3 80,758,349 (GRCm39) missense possibly damaging 0.84
R5816:Glrb UTSW 3 80,769,286 (GRCm39) missense probably damaging 1.00
R5826:Glrb UTSW 3 80,752,449 (GRCm39) missense probably damaging 0.99
R6711:Glrb UTSW 3 80,752,281 (GRCm39) missense probably benign 0.02
R7738:Glrb UTSW 3 80,767,491 (GRCm39) missense probably damaging 0.98
R8206:Glrb UTSW 3 80,758,373 (GRCm39) missense probably damaging 1.00
R8902:Glrb UTSW 3 80,769,285 (GRCm39) missense probably damaging 1.00
R8976:Glrb UTSW 3 80,758,363 (GRCm39) missense probably damaging 1.00
R9077:Glrb UTSW 3 80,763,217 (GRCm39) missense probably damaging 1.00
R9411:Glrb UTSW 3 80,767,610 (GRCm39) critical splice acceptor site probably null
Z1088:Glrb UTSW 3 80,752,541 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TCAGGATAGGATGCTCAACCAGGC -3'
(R):5'- ATGTGAGGTTGTCCAGTCAGAGGC -3'

Sequencing Primer
(F):5'- GCCCCACAGTCATGGTAGAC -3'
(R):5'- CAGTCAGAGGCAGCAGGTTC -3'
Posted On 2013-05-09