Incidental Mutation 'R5922:Gjb2'
ID 461653
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 043240-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5922 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 57336059-57342159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57337755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 151 (M151T)
Ref Sequence ENSEMBL: ENSMUSP00000054343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055698]
AlphaFold Q00977
Predicted Effect probably benign
Transcript: ENSMUST00000055698
AA Change: M151T

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000054343
Gene: ENSMUSG00000046352
AA Change: M151T

DomainStartEndE-ValueType
CNX 42 75 3.78e-20 SMART
Connexin_CCC 146 213 8.35e-40 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Atr A G 9: 95,785,735 (GRCm39) D1429G probably benign Het
Brinp2 A T 1: 158,076,925 (GRCm39) V390D possibly damaging Het
Cpn1 T C 19: 43,974,532 (GRCm39) S66G probably damaging Het
Dnal1 C A 12: 84,173,746 (GRCm39) L55M probably damaging Het
Dus2 G A 8: 106,780,037 (GRCm39) R453Q possibly damaging Het
Efcab5 T C 11: 77,079,570 (GRCm39) T59A probably benign Het
Elmo1 A G 13: 20,789,339 (GRCm39) D685G probably damaging Het
Ern1 T C 11: 106,312,556 (GRCm39) E275G probably damaging Het
Etnk2 A G 1: 133,291,623 (GRCm39) probably null Het
Fign T C 2: 63,809,404 (GRCm39) D622G probably damaging Het
Heatr9 C T 11: 83,403,193 (GRCm39) probably null Het
Herpud2 G A 9: 25,020,280 (GRCm39) L359F probably benign Het
Hpx C T 7: 105,244,831 (GRCm39) R118H probably damaging Het
Hyal2 A G 9: 107,448,106 (GRCm39) Y253C probably damaging Het
Igkv14-130 T C 6: 67,768,206 (GRCm39) C22R probably damaging Het
Ms4a6b T A 19: 11,497,743 (GRCm39) I14N possibly damaging Het
Myb T A 10: 21,028,826 (GRCm39) I91F probably damaging Het
Myh6 C T 14: 55,183,931 (GRCm39) D1668N probably damaging Het
Noc2l C T 4: 156,325,770 (GRCm39) Q182* probably null Het
Nsd1 A G 13: 55,395,288 (GRCm39) N1066S probably benign Het
Nup98 A G 7: 101,803,224 (GRCm39) Y659H probably damaging Het
Nutm1 T C 2: 112,079,659 (GRCm39) E752G possibly damaging Het
Paqr6 G T 3: 88,273,544 (GRCm39) A154S probably benign Het
Pdlim7 G T 13: 55,656,768 (GRCm39) T62K probably damaging Het
Pibf1 A G 14: 99,374,524 (GRCm39) D321G probably benign Het
Plrg1 T A 3: 82,964,155 (GRCm39) N29K possibly damaging Het
Scimp A C 11: 70,691,642 (GRCm39) probably null Het
Sec16a T C 2: 26,305,651 (GRCm39) N2251S probably benign Het
Sec61a2 A T 2: 5,879,134 (GRCm39) D291E possibly damaging Het
Serpina3i A G 12: 104,232,766 (GRCm39) K224E probably benign Het
Spz1 A T 13: 92,712,106 (GRCm39) D123E possibly damaging Het
St14 A T 9: 31,041,200 (GRCm39) probably benign Het
Ush1c A T 7: 45,853,552 (GRCm39) probably null Het
Usp54 T C 14: 20,602,139 (GRCm39) probably null Het
Zfhx3 C T 8: 109,673,330 (GRCm39) T1460M probably damaging Het
Zfp712 G T 13: 67,189,668 (GRCm39) N286K 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
R3816:Gjb2 UTSW 14 57,337,530 (GRCm39) missense probably benign
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
R7823:Gjb2 UTSW 14 57,337,963 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGGACTTTCCTGAGCAATACC -3'
(R):5'- CTCCTGGTAGCTATGCATGTGG -3'

Sequencing Primer
(F):5'- TGGACTTTCCTGAGCAATACCTAACG -3'
(R):5'- AGCTATGCATGTGGCCTAC -3'
Posted On 2017-02-28