Incidental Mutation 'R1455:Gja3'
ID 161745
Institutional Source Beutler Lab
Gene Symbol Gja3
Ensembl Gene ENSMUSG00000048582
Gene Name gap junction protein, alpha 3
Synonyms Cx46, alpha 3 connexin, connexin 46, Gja-3
MMRRC Submission 039510-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R1455 (G1)
Quality Score 157
Status Not validated
Chromosome 14
Chromosomal Location 57271917-57295487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57273842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 177 (Y177H)
Ref Sequence ENSEMBL: ENSMUSP00000059587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061614] [ENSMUST00000223792]
AlphaFold Q64448
Predicted Effect probably damaging
Transcript: ENSMUST00000061614
AA Change: Y177H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059587
Gene: ENSMUSG00000048582
AA Change: Y177H

DomainStartEndE-ValueType
CNX 43 76 4.4e-21 SMART
low complexity region 103 116 N/A INTRINSIC
Connexin_CCC 165 231 3.36e-44 SMART
low complexity region 342 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223792
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous mutants exhibit lens nuclear cataracts associated with breakdown of gamma crystallin. Severity of the defect is influenced by genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,824 (GRCm39) N285D possibly damaging Het
Adam9 T G 8: 25,483,125 (GRCm39) M227L probably benign Het
Ankrd35 A G 3: 96,585,471 (GRCm39) D21G probably damaging Het
Arhgap32 C T 9: 32,171,381 (GRCm39) A1387V probably benign Het
Atg4d T A 9: 21,182,097 (GRCm39) V306E probably damaging Het
Brsk1 G A 7: 4,707,250 (GRCm39) V268M probably damaging Het
Cfap300 T G 9: 8,022,457 (GRCm39) N255T probably benign Het
Clec4a4 A G 6: 122,989,758 (GRCm39) E133G possibly damaging Het
Col24a1 T A 3: 145,166,593 (GRCm39) L1076H probably damaging Het
Ddah1 G T 3: 145,594,864 (GRCm39) R208L probably benign Het
Dysf A G 6: 84,090,368 (GRCm39) N960S probably benign Het
Egln2 A G 7: 26,859,796 (GRCm39) Y306H probably damaging Het
Fgfr1 T C 8: 26,052,292 (GRCm39) V293A possibly damaging Het
Glul T A 1: 153,782,845 (GRCm39) probably null Het
Gprc5a G A 6: 135,056,245 (GRCm39) V231I probably benign Het
Kdm4d C A 9: 14,375,691 (GRCm39) A56S probably damaging Het
Lingo4 G A 3: 94,306,699 (GRCm39) probably benign Het
Map6 A G 7: 98,917,421 (GRCm39) T65A probably damaging Het
Mmrn2 T C 14: 34,121,089 (GRCm39) I653T probably benign Het
Ndufa12 A G 10: 94,039,176 (GRCm39) T70A probably benign Het
Nfe2l3 C A 6: 51,434,744 (GRCm39) P435T possibly damaging Het
Npc1l1 A T 11: 6,178,174 (GRCm39) V412E possibly damaging Het
Or51a39 A T 7: 102,363,205 (GRCm39) Y138* probably null Het
Or6aa1 A T 7: 86,043,803 (GRCm39) F301Y probably damaging Het
Pcnx1 T C 12: 82,020,008 (GRCm39) F1344L probably damaging Het
Pi4ka A G 16: 17,181,818 (GRCm39) V297A probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel7 T C 2: 87,320,067 (GRCm39) T409A probably benign Het
Proc C G 18: 32,256,451 (GRCm39) M405I probably damaging Het
Serinc2 C A 4: 130,158,133 (GRCm39) A105S probably damaging Het
Slc4a10 G T 2: 62,117,274 (GRCm39) K744N probably damaging Het
Spdye4c A T 2: 128,438,478 (GRCm39) I279F probably damaging Het
Srcap G T 7: 127,129,822 (GRCm39) R568L probably damaging Het
Stag3 T A 5: 138,309,997 (GRCm39) M1215K probably benign Het
Tenm3 C T 8: 48,732,083 (GRCm39) A1274T possibly damaging Het
Tet2 A G 3: 133,179,406 (GRCm39) V1253A possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trip12 T C 1: 84,736,821 (GRCm39) I800V probably benign Het
Zfc3h1 T C 10: 115,248,013 (GRCm39) I1072T probably benign Het
Zfp148 T A 16: 33,315,835 (GRCm39) probably null Het
Zfp941 A G 7: 140,392,687 (GRCm39) V224A probably benign Het
Other mutations in Gja3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02023:Gja3 APN 14 57,273,136 (GRCm39) missense probably damaging 1.00
R0470:Gja3 UTSW 14 57,273,884 (GRCm39) missense probably damaging 1.00
R0631:Gja3 UTSW 14 57,274,219 (GRCm39) missense possibly damaging 0.95
R1687:Gja3 UTSW 14 57,274,333 (GRCm39) missense probably damaging 0.99
R2229:Gja3 UTSW 14 57,274,171 (GRCm39) missense probably damaging 1.00
R3846:Gja3 UTSW 14 57,273,161 (GRCm39) nonsense probably null
R5337:Gja3 UTSW 14 57,273,289 (GRCm39) missense probably benign 0.22
R5797:Gja3 UTSW 14 57,273,170 (GRCm39) missense probably damaging 0.98
R5940:Gja3 UTSW 14 57,273,317 (GRCm39) missense probably damaging 0.99
R7226:Gja3 UTSW 14 57,273,350 (GRCm39) missense probably benign 0.01
R8066:Gja3 UTSW 14 57,273,263 (GRCm39) missense probably benign 0.00
R9142:Gja3 UTSW 14 57,274,048 (GRCm39) missense probably benign 0.19
Z1088:Gja3 UTSW 14 57,273,272 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- CATGTTGAGTACCAGTGACGCACAG -3'
(R):5'- GCAAATCATCTTCGTGTCTACGCCC -3'

Sequencing Primer
(F):5'- TGACGCACAGGCCACAG -3'
(R):5'- ACGTGCTACACATCGTGC -3'
Posted On 2014-03-14