Incidental Mutation 'R4382:Glrb'
ID 325358
Institutional Source Beutler Lab
Gene Symbol Glrb
Ensembl Gene ENSMUSG00000028020
Gene Name glycine receptor, beta subunit
Synonyms
MMRRC Submission 041679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4382 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 80750906-80820967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80786946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 72 (R72S)
Ref Sequence ENSEMBL: ENSMUSP00000142306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029654] [ENSMUST00000107743] [ENSMUST00000132330] [ENSMUST00000135043] [ENSMUST00000194085]
AlphaFold P48168
Predicted Effect probably damaging
Transcript: ENSMUST00000029654
AA Change: R72S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029654
Gene: ENSMUSG00000028020
AA Change: R72S

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: R72S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103372
Gene: ENSMUSG00000028020
AA Change: R72S

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: ENSMUST00000132330
SMART Domains Protein: ENSMUSP00000115014
Gene: ENSMUSG00000028020

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
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 probably damaging
Transcript: ENSMUST00000194085
AA Change: R72S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142306
Gene: ENSMUSG00000028020
AA Change: R72S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,281,596 (GRCm39) T399S possibly damaging Het
Acp2 T C 2: 91,038,454 (GRCm39) S309P possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
B4galnt4 T C 7: 140,650,449 (GRCm39) V772A probably damaging Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Ccdc92b G A 11: 74,520,842 (GRCm39) S48N probably damaging Het
Ceacam12 C T 7: 17,799,959 (GRCm39) probably benign Het
Clca3a1 T A 3: 144,466,483 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,496,407 (GRCm39) T300A probably damaging Het
Col12a1 A T 9: 79,538,023 (GRCm39) Y2514* probably null Het
Col6a6 G A 9: 105,660,889 (GRCm39) R407W probably damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Cspg4b T C 13: 113,459,288 (GRCm39) I1273T probably benign Het
Ddx60 G A 8: 62,402,012 (GRCm39) probably null Het
Dnajb12 A T 10: 59,733,321 (GRCm39) K372N probably benign Het
Fhl5 A C 4: 25,200,118 (GRCm39) C239G probably benign Het
Gad2 G A 2: 22,575,422 (GRCm39) V509I probably benign Het
Gm6811 T C 17: 21,314,865 (GRCm39) noncoding transcript Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Hk2 A T 6: 82,712,322 (GRCm39) L542Q probably null Het
Iglc1 A T 16: 18,880,508 (GRCm39) C104* probably null Het
Kel T A 6: 41,675,334 (GRCm39) T306S probably benign Het
Lpo T C 11: 87,713,027 (GRCm39) D25G probably benign Het
Mboat7 T A 7: 3,691,545 (GRCm39) Y109F possibly damaging Het
Myh15 T G 16: 48,963,306 (GRCm39) N1082K probably benign Het
Nagk A G 6: 83,774,993 (GRCm39) E90G probably benign Het
Nagpa A T 16: 5,021,819 (GRCm39) F10I possibly damaging Het
Or9a4 T A 6: 40,548,998 (GRCm39) L226H probably damaging Het
Otog T A 7: 45,939,122 (GRCm39) C2051S probably damaging Het
Ptpn6 A G 6: 124,704,361 (GRCm39) V315A possibly damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Rnf41 T C 10: 128,272,392 (GRCm39) S140P probably benign Het
Ros1 C T 10: 51,997,055 (GRCm39) V1206I possibly damaging Het
Scgb2b12 T A 7: 32,024,870 (GRCm39) E112D probably benign Het
Serpinb3b T A 1: 107,083,273 (GRCm39) M210L probably damaging Het
Sipa1l1 A G 12: 82,493,596 (GRCm39) R1672G possibly damaging Het
Smc5 A G 19: 23,246,210 (GRCm39) S70P probably benign Het
Spen C T 4: 141,200,450 (GRCm39) G2703S possibly damaging Het
Stard9 C G 2: 120,464,703 (GRCm39) A56G probably damaging Het
Wtap A G 17: 13,194,307 (GRCm39) S87P probably damaging Het
Zzef1 T G 11: 72,765,938 (GRCm39) S1488R 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
R0003:Glrb UTSW 3 80,763,221 (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
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'- CAGAGACCAGCCTATTAATTCACAG -3'
(R):5'- CTTAAGGGAGCCAAGCCAGTTC -3'

Sequencing Primer
(F):5'- CCCTAAGCACATTTCAGGA -3'
(R):5'- CTTTAGTCAGCAGTCACC -3'
Posted On 2015-07-06