Incidental Mutation 'R3885:Gjc3'
ID 308707
Institutional Source Beutler Lab
Gene Symbol Gjc3
Ensembl Gene ENSMUSG00000056966
Gene Name gap junction protein, gamma 3
Synonyms connexin 29, Cx29, Gje1
MMRRC Submission 040905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3885 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137951723-137961360 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137956105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 60 (N60I)
Ref Sequence ENSEMBL: ENSMUSP00000076367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077119]
AlphaFold Q921C1
Predicted Effect possibly damaging
Transcript: ENSMUST00000077119
AA Change: N60I

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076367
Gene: ENSMUSG00000056966
AA Change: N60I

DomainStartEndE-ValueType
Blast:CNX 53 86 7e-11 BLAST
Connexin_CCC 159 225 8.64e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199083
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
PHENOTYPE: Half of homozygotes for a null allele show delayed maturation of hearing thresholds, high-frequency hearing loss, vulnerability to noise damage and demyelination of spiral ganglion neurons. Homozygotes for another null allele show normal sciatic nerve conduction with no auditory or visual deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak8 G A 2: 28,623,897 (GRCm39) V161I possibly damaging Het
Ank3 A T 10: 69,734,866 (GRCm39) I792F probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Boc T C 16: 44,307,976 (GRCm39) probably benign Het
Bptf G A 11: 106,965,339 (GRCm39) T1170M probably damaging Het
Ccdc85a T A 11: 28,526,677 (GRCm39) E310D probably benign Het
Cfap221 A G 1: 119,881,876 (GRCm39) probably null Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Eif2ak1 A T 5: 143,821,479 (GRCm39) Q265L probably benign Het
Eif2s1 T A 12: 78,927,999 (GRCm39) I225N probably damaging Het
Ephb2 C T 4: 136,498,345 (GRCm39) G245S probably damaging Het
Exoc4 T C 6: 33,243,066 (GRCm39) probably null Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Gck T C 11: 5,860,318 (GRCm39) Y108C probably damaging Het
Gm5145 A T 17: 20,791,272 (GRCm39) T217S probably benign Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
Gpr150 T C 13: 76,204,657 (GRCm39) Q96R probably damaging Het
H2ac22 A G 13: 21,971,039 (GRCm39) L117P probably damaging Het
H2ac8 G T 13: 23,755,053 (GRCm39) T77K possibly damaging Het
Itga2 A T 13: 115,005,835 (GRCm39) H448Q probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lrch2 C G X: 146,256,003 (GRCm39) A437P probably damaging Het
Lrriq1 T C 10: 103,051,967 (GRCm39) I262V probably damaging Het
Mgst3 G T 1: 167,200,131 (GRCm39) Q135K probably benign Het
Nrxn1 T A 17: 90,930,899 (GRCm39) T766S probably damaging Het
Or11j4 A T 14: 50,630,326 (GRCm39) I38F probably benign Het
Ovch2 A G 7: 107,395,775 (GRCm39) I81T probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rictor A T 15: 6,789,091 (GRCm39) N236Y probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Senp7 A G 16: 56,006,442 (GRCm39) E922G probably damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Steap4 G T 5: 8,030,494 (GRCm39) R450L probably damaging Het
Usp40 A T 1: 87,894,991 (GRCm39) L843Q probably damaging Het
Vmn2r97 C T 17: 19,148,596 (GRCm39) L164F possibly damaging Het
Wiz G T 17: 32,576,012 (GRCm39) A798E possibly damaging Het
Other mutations in Gjc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Gjc3 APN 5 137,956,120 (GRCm39) missense probably damaging 0.97
IGL01404:Gjc3 APN 5 137,956,120 (GRCm39) missense probably damaging 0.97
IGL02741:Gjc3 APN 5 137,955,726 (GRCm39) nonsense probably null
R0130:Gjc3 UTSW 5 137,956,202 (GRCm39) missense probably benign 0.15
R0322:Gjc3 UTSW 5 137,955,760 (GRCm39) missense possibly damaging 0.87
R2141:Gjc3 UTSW 5 137,955,808 (GRCm39) missense probably damaging 1.00
R3889:Gjc3 UTSW 5 137,956,105 (GRCm39) missense possibly damaging 0.74
R5209:Gjc3 UTSW 5 137,955,533 (GRCm39) missense probably benign 0.43
R5444:Gjc3 UTSW 5 137,955,809 (GRCm39) missense probably damaging 1.00
R6964:Gjc3 UTSW 5 137,955,759 (GRCm39) missense probably benign 0.04
R8514:Gjc3 UTSW 5 137,955,772 (GRCm39) missense probably damaging 1.00
Z1177:Gjc3 UTSW 5 137,955,823 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTAATCTGGGTCTCTTGC -3'
(R):5'- GCAAGTAAGACATCTGCACTG -3'

Sequencing Primer
(F):5'- AATCTGGGTCTCTTGCTCCTTG -3'
(R):5'- GATAATTCTTCTCTGCTTGGTGACAG -3'
Posted On 2015-04-17