Incidental Mutation 'R5797:Gja3'
ID 447292
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 043209-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R5797 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 57271917-57295487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57273170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 401 (R401G)
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: R401G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059587
Gene: ENSMUSG00000048582
AA Change: R401G

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T C 3: 40,887,986 (GRCm39) F277L probably benign Het
Acsf2 A G 11: 94,462,505 (GRCm39) V170A probably damaging Het
Amz2 G T 11: 109,317,905 (GRCm39) probably benign Het
Atp4a A G 7: 30,412,074 (GRCm39) Y65C probably damaging Het
Canx T C 11: 50,191,844 (GRCm39) I356V probably benign Het
Cfap54 T A 10: 92,803,438 (GRCm39) T1535S probably benign Het
Cts3 A T 13: 61,716,206 (GRCm39) W52R probably damaging Het
Cyb5rl A T 4: 106,941,404 (GRCm39) E276D possibly damaging Het
Dhx30 T C 9: 109,927,888 (GRCm39) N78S probably damaging Het
Dmap1 A T 4: 117,532,677 (GRCm39) V333E possibly damaging Het
Dnah10 A G 5: 124,898,450 (GRCm39) E3744G probably benign Het
Efcab6 C T 15: 83,808,478 (GRCm39) C828Y possibly damaging Het
Fam227b A C 2: 125,849,254 (GRCm39) I326S probably benign Het
Fbrs C A 7: 127,086,463 (GRCm39) H604Q probably damaging Het
Fshr T G 17: 89,318,503 (GRCm39) N129T probably damaging Het
Gm572 G A 4: 148,751,255 (GRCm39) M209I probably benign Het
Gne G A 4: 44,060,030 (GRCm39) T121M probably damaging Het
Gnmt T C 17: 47,037,305 (GRCm39) N160D probably damaging Het
Kalrn T C 16: 34,032,619 (GRCm39) Y1125C probably damaging Het
Kif2a A T 13: 107,111,884 (GRCm39) C524S probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lrrtm2 C T 18: 35,346,759 (GRCm39) R181H probably damaging Het
Mkln1 A G 6: 31,410,004 (GRCm39) D214G probably benign Het
Muc5b C A 7: 141,405,319 (GRCm39) T909N unknown Het
Myh13 T A 11: 67,225,828 (GRCm39) D335E possibly damaging Het
Myo5b A G 18: 74,834,592 (GRCm39) E884G probably benign Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nxpe4 T A 9: 48,307,838 (GRCm39) I314N possibly damaging Het
Pcnt T C 10: 76,228,590 (GRCm39) E1525G probably benign Het
Pkd1 T A 17: 24,811,615 (GRCm39) H153Q possibly damaging Het
Prkdc T A 16: 15,555,698 (GRCm39) Y2157* probably null Het
Scd3 T C 19: 44,203,950 (GRCm39) I46T probably benign Het
Sdha A T 13: 74,482,476 (GRCm39) M279K probably damaging Het
Slco4c1 A G 1: 96,746,829 (GRCm39) V671A probably benign Het
Slitrk3 T A 3: 72,955,962 (GRCm39) T937S probably damaging Het
Sncaip A T 18: 53,031,276 (GRCm39) T442S probably benign Het
Sptb T C 12: 76,650,473 (GRCm39) D1748G possibly damaging Het
Trmt9b A T 8: 36,965,569 (GRCm39) K30* probably null Het
Vmn2r12 A T 5: 109,233,736 (GRCm39) C825* probably null 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
R1455:Gja3 UTSW 14 57,273,842 (GRCm39) missense probably damaging 1.00
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
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'- AAACCAGACTGATCCAGTTTGCTC -3'
(R):5'- AAGCCCTCTTCAGCAGCATC -3'

Sequencing Primer
(F):5'- AATCCAGCACTGTCAGGTTTTTG -3'
(R):5'- GCATCCAGCCCTGATGG -3'
Posted On 2016-12-15