Incidental Mutation 'R3816:Gjb2'
ID 274327
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 040881-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3816 (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: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Abca2 A G 2: 25,336,083 (GRCm39) Y2151C probably damaging Het
Adamts3 T A 5: 89,853,123 (GRCm39) H509L probably damaging Het
Agfg2 T C 5: 137,652,036 (GRCm39) D441G probably benign Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
As3mt A T 19: 46,696,216 (GRCm39) D8V probably benign Het
Ass1 G T 2: 31,400,117 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,972,451 (GRCm39) I634V possibly damaging Het
Cflar T C 1: 58,791,582 (GRCm39) V298A probably benign 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
Dlec1 C T 9: 118,953,911 (GRCm39) A610V probably damaging Het
Dock1 C T 7: 134,346,015 (GRCm39) R186* probably null Het
E130018O15Rik T C 5: 35,540,110 (GRCm39) noncoding transcript Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gipc2 T C 3: 151,871,481 (GRCm39) K15R probably benign Het
Glipr2 G T 4: 43,977,522 (GRCm39) A51S possibly damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
H2-M10.2 A T 17: 36,597,254 (GRCm39) Y20* probably null Het
Hapstr1 T A 16: 8,648,358 (GRCm39) I12N probably damaging Het
Hlcs A G 16: 93,933,947 (GRCm39) V242A probably benign Het
Ifi44 T C 3: 151,454,894 (GRCm39) I110M possibly damaging Het
Il18r1 T C 1: 40,526,132 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Khk T C 5: 31,084,060 (GRCm39) S80P probably damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo1g A G 11: 6,460,926 (GRCm39) V706A probably benign Het
Npat T C 9: 53,481,216 (GRCm39) S1008P probably damaging Het
Or2ag18 A G 7: 106,405,027 (GRCm39) I214T probably damaging 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
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pdgfrb A G 18: 61,212,017 (GRCm39) D844G probably damaging Het
Phf3 T C 1: 30,844,834 (GRCm39) D1375G probably damaging Het
Pigu A T 2: 155,141,063 (GRCm39) F276I probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rac2 T C 15: 78,450,199 (GRCm39) D47G possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall1 G T 8: 89,759,303 (GRCm39) A267E probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpina3k A G 12: 104,307,221 (GRCm39) E151G probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Slc51b A G 9: 65,321,300 (GRCm39) probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Star G A 8: 26,299,905 (GRCm39) M82I 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
Usp32 A G 11: 84,885,210 (GRCm39) probably null Het
Vmn2r18 T C 5: 151,485,148 (GRCm39) N782S probably benign Het
Vwa3a A G 7: 120,399,602 (GRCm39) T1028A probably benign Het
Xrn2 G A 2: 146,870,120 (GRCm39) G270R probably damaging Het
Zbbx G T 3: 74,992,802 (GRCm39) Q231K probably benign 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
R3817: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'- AGGCATAGAATTGGGCCTTTG -3'
(R):5'- GGTGAAATGCAACGCTTGGC -3'

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