Incidental Mutation 'IGL02225:Gjb2'
ID285301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb2
Ensembl Gene ENSMUSG00000046352
Gene Namegap junction protein, beta 2
SynonymsGjb-2, Cx26, connexin 26
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02225
Quality Score
Status
Chromosome14
Chromosomal Location57098600-57104702 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57100188 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 188 (K188E)
Ref Sequence ENSEMBL: ENSMUSP00000054343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055698]
Predicted Effect probably damaging
Transcript: ENSMUST00000055698
AA Change: K188E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054343
Gene: ENSMUSG00000046352
AA Change: K188E

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 8.35e-40 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mutant homozygotes are developmentally retarded with impaired transplacental nutrient/glucose uptake and die about embryonic day 11. Conditional mutants in inner ear are hearing impaired with cell death in cochlear epithelial network and inner hair cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,256,741 probably null Het
Adgrf4 C A 17: 42,663,378 probably null Het
Aqp9 A T 9: 71,130,547 probably benign Het
C1s1 A G 6: 124,541,334 W8R probably benign Het
Cfap43 A G 19: 47,812,177 I345T probably benign Het
Cwh43 T C 5: 73,421,567 Y306H probably damaging Het
Cyp4a32 A T 4: 115,610,503 H228L probably benign Het
Ddx24 A G 12: 103,417,371 L607P probably damaging Het
Dlg3 A G X: 100,807,188 K232R probably benign Het
Fgfr1op T G 17: 8,182,419 D257E probably damaging Het
Fig4 A G 10: 41,256,452 S453P probably benign Het
Frem1 A G 4: 82,940,506 L1556P probably damaging Het
Gp1bb C A 16: 18,620,900 W148L possibly damaging Het
Grip1 C T 10: 120,049,453 T375M probably damaging Het
Hnf1b T C 11: 83,861,785 L82P probably damaging Het
Jakmip1 T C 5: 37,104,856 V333A probably damaging Het
Magi1 G T 6: 93,694,026 R1069S probably damaging Het
Myh15 A T 16: 49,091,163 E319D probably benign Het
Myl4 A G 11: 104,580,402 I42V probably benign Het
Obsl1 A T 1: 75,503,798 V394E probably damaging Het
Olfr1137 C T 2: 87,711,399 C169Y possibly damaging Het
Olfr376 T A 11: 73,375,078 F110I probably damaging Het
Olfr598 A T 7: 103,329,166 I227F probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Pkd1l3 T C 8: 109,638,678 Y1144H probably damaging Het
Pogz A G 3: 94,879,016 K972E probably damaging Het
Sccpdh A G 1: 179,679,699 T227A probably benign Het
Sec16b A G 1: 157,532,044 probably benign Het
Slain2 T A 5: 72,941,390 V163E probably damaging Het
Snx1 G A 9: 66,109,621 P56L probably benign Het
Snx14 G A 9: 88,413,524 T196I probably damaging Het
Sspo T C 6: 48,484,334 F3570L probably benign Het
Tbrg4 C A 11: 6,624,094 V43F probably damaging Het
Traf3ip3 A G 1: 193,195,100 I176T probably benign Het
Trbv20 T A 6: 41,188,307 probably benign Het
Ubc A T 5: 125,386,133 V710D probably benign Het
Ugt2b35 T C 5: 87,007,405 probably benign Het
Zbed5 C T 5: 129,902,133 probably null Het
Zc3hav1 T C 6: 38,340,341 Y108C probably damaging Het
Other mutations in Gjb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Gjb2 APN 14 57100172 missense possibly damaging 0.84
IGL01325:Gjb2 APN 14 57100221 missense probably benign 0.07
IGL01528:Gjb2 APN 14 57100668 missense probably damaging 0.99
IGL02696:Gjb2 APN 14 57100312 missense probably damaging 1.00
R0143:Gjb2 UTSW 14 57100069 synonymous silent
R3816:Gjb2 UTSW 14 57100073 missense probably benign
R3817:Gjb2 UTSW 14 57100073 missense probably benign
R3818:Gjb2 UTSW 14 57100073 missense probably benign
R3819:Gjb2 UTSW 14 57100073 missense probably benign
R4569:Gjb2 UTSW 14 57100305 missense probably benign 0.03
R5922:Gjb2 UTSW 14 57100298 missense probably benign 0.15
Posted On2015-04-16