Incidental Mutation 'R3818:Gjb2'
ID 274794
Institutional Source Beutler Lab
Gene Symbol Gjb2
Ensembl Gene ENSMUSG00000046352
Gene Name gap junction protein, beta 2
Synonyms connexin 26, Cx26, Gjb-2
MMRRC Submission 040772-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3818 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 57336059-57342159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57337530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 226 (V226A)
Ref Sequence ENSEMBL: ENSMUSP00000054343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055698]
AlphaFold Q00977
Predicted Effect probably benign
Transcript: ENSMUST00000055698
AA Change: V226A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054343
Gene: ENSMUSG00000046352
AA Change: V226A

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 8.35e-40 SMART
Meta Mutation Damage Score 0.4609 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (34/34)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310011J03Rik T C 10: 80,155,351 (GRCm39) D54G probably damaging Het
Adra2b G T 2: 127,205,755 (GRCm39) E86* probably null Het
Cachd1 A T 4: 100,848,062 (GRCm39) D1059V probably damaging Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Col25a1 A G 3: 130,343,720 (GRCm39) K396R possibly damaging Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Cyp4a30b G T 4: 115,316,206 (GRCm39) A311S probably damaging Het
Dse T C 10: 34,029,429 (GRCm39) I554V probably benign Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gpr21 C A 2: 37,408,324 (GRCm39) T290N probably damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
Hivep2 T C 10: 14,019,685 (GRCm39) V2152A possibly damaging Het
Mamdc4 C T 2: 25,455,785 (GRCm39) S840N probably benign Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8i2 G A 2: 86,852,054 (GRCm39) T278I probably benign Het
Pah A G 10: 87,357,866 (GRCm39) probably benign Het
Pikfyve T A 1: 65,284,917 (GRCm39) S794T probably damaging Het
Plekhn1 T C 4: 156,309,990 (GRCm39) H108R probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Prkd1 A T 12: 50,466,667 (GRCm39) probably benign Het
Pwp1 C T 10: 85,723,993 (GRCm39) P498L possibly damaging Het
Rasa4 A G 5: 136,131,147 (GRCm39) T414A possibly damaging Het
Rbm26 A T 14: 105,378,706 (GRCm39) L594I probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Sorcs3 A G 19: 48,592,343 (GRCm39) N336S probably benign Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Tlr4 A G 4: 66,759,553 (GRCm39) E782G probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttl T C 2: 128,934,914 (GRCm39) V358A probably damaging Het
Wdhd1 A G 14: 47,481,258 (GRCm39) probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign Het
Zfp939 T C 7: 39,122,792 (GRCm39) noncoding transcript Het
Other mutations in Gjb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Gjb2 APN 14 57,337,629 (GRCm39) missense possibly damaging 0.84
IGL01325:Gjb2 APN 14 57,337,678 (GRCm39) missense probably benign 0.07
IGL01528:Gjb2 APN 14 57,338,125 (GRCm39) missense probably damaging 0.99
IGL02225:Gjb2 APN 14 57,337,645 (GRCm39) missense probably damaging 1.00
IGL02696:Gjb2 APN 14 57,337,769 (GRCm39) missense probably damaging 1.00
R0143:Gjb2 UTSW 14 57,337,526 (GRCm39) synonymous silent
R3816:Gjb2 UTSW 14 57,337,530 (GRCm39) missense probably benign
R3817:Gjb2 UTSW 14 57,337,530 (GRCm39) missense probably benign
R3819:Gjb2 UTSW 14 57,337,530 (GRCm39) missense probably benign
R4569:Gjb2 UTSW 14 57,337,762 (GRCm39) missense probably benign 0.03
R5922:Gjb2 UTSW 14 57,337,755 (GRCm39) missense probably benign 0.15
R7823:Gjb2 UTSW 14 57,337,963 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- AGGCATAGAATTGGGCCTTTG -3'
(R):5'- GTGAAATGCAACGCTTGGC -3'

Sequencing Primer
(F):5'- CTTTGGGGGAAGGGAGGCC -3'
(R):5'- CCCTGCCCCAATACAGTGG -3'
Posted On 2015-04-02