Incidental Mutation 'R3817:Gjb2'
ID 274759
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 040771-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3817 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appbp2 G T 11: 85,088,934 (GRCm39) P369T probably damaging Het
Atp1b1 C T 1: 164,270,874 (GRCm39) R35H probably benign Het
B3galt2 G T 1: 143,522,811 (GRCm39) G316C probably damaging Het
Chd9 T C 8: 91,710,893 (GRCm39) probably benign Het
Clec4a4 A C 6: 122,967,366 (GRCm39) N14T probably damaging Het
Crb1 T A 1: 139,175,835 (GRCm39) Q716L probably benign Het
Cts7 T C 13: 61,504,350 (GRCm39) N71S probably damaging Het
Cyb561a3 T C 19: 10,559,728 (GRCm39) S18P possibly damaging Het
Cyp2c67 A T 19: 39,627,127 (GRCm39) F234L probably benign Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Exph5 C T 9: 53,286,794 (GRCm39) Q1292* probably null Het
Hivep2 T C 10: 14,019,685 (GRCm39) V2152A possibly damaging Het
Lig3 G A 11: 82,686,941 (GRCm39) V695M possibly damaging Het
Lrp1b T C 2: 40,766,670 (GRCm39) E2735G probably damaging Het
Lrrtm4 A G 6: 79,999,044 (GRCm39) E152G probably benign Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Nav2 A G 7: 49,114,310 (GRCm39) T765A probably benign Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Or8g52 A G 9: 39,631,404 (GRCm39) N294D possibly damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Ppp2r5c T C 12: 110,510,621 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Slc27a1 T C 8: 72,037,122 (GRCm39) V422A probably damaging Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Tns3 G C 11: 8,384,619 (GRCm39) R1400G probably damaging Het
Vmn2r19 A T 6: 123,286,601 (GRCm39) Y78F probably damaging Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign Het
Zfp672 G T 11: 58,207,462 (GRCm39) H286Q possibly damaging 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
R3818: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'- CAGGCATAGAATTGGGCCTTTG -3'
(R):5'- TGAAATGCAACGCTTGGCC -3'

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