Incidental Mutation 'R1382:Gjb3'
ID 163084
Institutional Source Beutler Lab
Gene Symbol Gjb3
Ensembl Gene ENSMUSG00000042367
Gene Name gap junction protein, beta 3
Synonyms Gjb-3, D4Wsu144e, Cx31, connexin 31, Cnx31
MMRRC Submission 039444-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1382 (G1)
Quality Score 218
Status Not validated
Chromosome 4
Chromosomal Location 127219028-127224633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127220224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 103 (R103W)
Ref Sequence ENSEMBL: ENSMUSP00000101697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046532] [ENSMUST00000106091]
AlphaFold P28231
Predicted Effect probably damaging
Transcript: ENSMUST00000046532
AA Change: R103W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046755
Gene: ENSMUSG00000042367
AA Change: R103W

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 3.47e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 209 3.05e-33 SMART
low complexity region 219 237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106091
AA Change: R103W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101697
Gene: ENSMUSG00000042367
AA Change: R103W

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 3.47e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 209 3.05e-33 SMART
low complexity region 219 237 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit partial lethality and transient placental dysmorphogenesis but no impairment in hearing or skin differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C T 15: 72,998,889 (GRCm39) C236Y probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Asap2 A G 12: 21,315,955 (GRCm39) T916A probably damaging Het
Ceacam5 T C 7: 17,486,090 (GRCm39) V529A probably benign Het
Cep192 G A 18: 67,989,370 (GRCm39) R1839Q possibly damaging Het
Cope A G 8: 70,765,513 (GRCm39) N295S probably benign Het
Crocc2 G A 1: 93,144,815 (GRCm39) probably null Het
Cuedc1 C T 11: 88,068,189 (GRCm39) P146S probably benign Het
Ddc T C 11: 11,774,856 (GRCm39) D345G possibly damaging Het
Dsg4 T A 18: 20,598,181 (GRCm39) C700S probably benign Het
Dst A T 1: 34,307,914 (GRCm39) E6224D probably damaging Het
Exo1 A G 1: 175,721,362 (GRCm39) T334A probably damaging Het
Glyr1 GCTGCC G 16: 4,839,209 (GRCm39) probably null Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lemd3 A T 10: 120,767,641 (GRCm39) I711K probably damaging Het
Lrrc8b A G 5: 105,628,749 (GRCm39) D365G probably damaging Het
Mdga2 A T 12: 66,517,690 (GRCm39) I48K possibly damaging Het
Or51q1c G T 7: 103,652,927 (GRCm39) L148F probably benign Het
Pate7 T A 9: 35,689,390 (GRCm39) probably benign Het
Pdzph1 A G 17: 59,281,742 (GRCm39) V180A probably benign Het
Phactr1 T C 13: 43,286,451 (GRCm39) F584S probably damaging Het
Ppan A G 9: 20,803,214 (GRCm39) K429E probably benign Het
Prkd3 A G 17: 79,264,674 (GRCm39) V647A probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptpru A G 4: 131,535,540 (GRCm39) F407S probably damaging Het
Rab3gap1 A T 1: 127,870,333 (GRCm39) T985S probably damaging Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Tet2 C T 3: 133,182,376 (GRCm39) G1196D probably damaging Het
Tub G A 7: 108,629,360 (GRCm39) V426I probably damaging Het
Wdr75 A G 1: 45,856,471 (GRCm39) Y498C probably damaging Het
Other mutations in Gjb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Gjb3 APN 4 127,219,914 (GRCm39) missense probably damaging 0.99
IGL02398:Gjb3 APN 4 127,219,855 (GRCm39) missense probably benign 0.00
IGL02501:Gjb3 APN 4 127,220,157 (GRCm39) missense probably damaging 1.00
IGL02680:Gjb3 APN 4 127,219,815 (GRCm39) missense probably damaging 0.98
R0118:Gjb3 UTSW 4 127,220,451 (GRCm39) missense probably damaging 1.00
R0481:Gjb3 UTSW 4 127,220,125 (GRCm39) missense probably benign 0.00
R1142:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1250:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1279:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1280:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1281:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1282:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1322:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1324:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1325:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1341:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1799:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1834:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R1836:Gjb3 UTSW 4 127,220,224 (GRCm39) missense probably damaging 1.00
R4650:Gjb3 UTSW 4 127,220,484 (GRCm39) missense probably damaging 1.00
R5026:Gjb3 UTSW 4 127,220,280 (GRCm39) missense probably damaging 1.00
R6310:Gjb3 UTSW 4 127,220,433 (GRCm39) missense probably damaging 0.99
R6357:Gjb3 UTSW 4 127,220,423 (GRCm39) nonsense probably null
R9092:Gjb3 UTSW 4 127,220,471 (GRCm39) frame shift probably null
R9092:Gjb3 UTSW 4 127,220,458 (GRCm39) frame shift probably null
R9093:Gjb3 UTSW 4 127,220,458 (GRCm39) frame shift probably null
R9094:Gjb3 UTSW 4 127,220,458 (GRCm39) frame shift probably null
R9145:Gjb3 UTSW 4 127,220,140 (GRCm39) missense probably damaging 1.00
R9511:Gjb3 UTSW 4 127,220,131 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTAGCAATCCACGGTGTTGGGG -3'
(R):5'- CGCATCTGGCTGTCAGTAGTGTTC -3'

Sequencing Primer
(F):5'- TGGCGCACTGTACCAGAC -3'
(R):5'- TCAGTAGTGTTCGTCTTCCG -3'
Posted On 2014-03-17