Incidental Mutation 'IGL00424:Gjd2'
ID 7084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjd2
Ensembl Gene ENSMUSG00000068615
Gene Name gap junction protein, delta 2
Synonyms Cx36, Gja9, connexin36
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL00424
Quality Score
Status
Chromosome 2
Chromosomal Location 113840082-113844100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113842258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 73 (I73T)
Ref Sequence ENSEMBL: ENSMUSP00000087742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090275]
AlphaFold O54851
Predicted Effect probably damaging
Transcript: ENSMUST00000090275
AA Change: I73T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: I73T

DomainStartEndE-ValueType
CNX 44 77 1.01e-15 SMART
low complexity region 125 137 N/A INTRINSIC
Connexin_CCC 209 275 4.72e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147411
Coding Region Coverage
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 connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]
PHENOTYPE: Nullizygous mutations can cause loss of electrical synapses, impaired synchronous activity of inhibitory networks, altered spike synchrony in OB glomeruli, absent coupling of alpha-ganglion cells in retina, and abnormal cued conditioning, nerve fiber andsingle cell responses, and insulin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 137,988,260 (GRCm39) E108G probably benign Het
Afap1l2 A G 19: 56,990,740 (GRCm39) probably benign Het
Als2cl T C 9: 110,715,607 (GRCm39) probably null Het
Bpifb1 A G 2: 154,059,087 (GRCm39) probably benign Het
Cux2 G A 5: 122,006,601 (GRCm39) R890W possibly damaging Het
Fancb A C X: 163,766,334 (GRCm39) Q272P probably damaging Het
Fmnl1 G A 11: 103,088,166 (GRCm39) W1008* probably null Het
Gfra2 T A 14: 71,205,679 (GRCm39) probably benign Het
Itgae T C 11: 73,036,461 (GRCm39) I1133T probably benign Het
Kcnh1 T A 1: 192,101,190 (GRCm39) V594E probably damaging Het
Maml2 T A 9: 13,532,208 (GRCm39) V474E probably damaging Het
Mysm1 G A 4: 94,861,146 (GRCm39) probably benign Het
Ntrk3 C T 7: 77,900,621 (GRCm39) A573T probably benign Het
Pi4kb A G 3: 94,911,574 (GRCm39) D348G probably damaging Het
Prol1 A G 5: 88,475,718 (GRCm39) Y36C probably benign Het
Rfx6 T A 10: 51,557,982 (GRCm39) C152S probably damaging Het
Rpp14 G A 14: 8,083,934 (GRCm38) G30E possibly damaging Het
Tnxb T G 17: 34,933,666 (GRCm39) F2362C probably damaging Het
Tpr T A 1: 150,274,346 (GRCm39) probably benign Het
Trf G A 9: 103,104,135 (GRCm39) A76V probably damaging Het
Tubgcp3 C T 8: 12,671,809 (GRCm39) R811H probably benign Het
Zfp820 A T 17: 22,038,292 (GRCm39) H345Q probably damaging Het
Other mutations in Gjd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Gjd2 APN 2 113,841,587 (GRCm39) missense probably benign 0.00
IGL02307:Gjd2 APN 2 113,842,394 (GRCm39) missense possibly damaging 0.95
IGL02862:Gjd2 APN 2 113,843,624 (GRCm39) utr 5 prime probably benign
IGL03206:Gjd2 APN 2 113,842,204 (GRCm39) missense probably damaging 1.00
R0212:Gjd2 UTSW 2 113,841,953 (GRCm39) missense probably benign 0.00
R1306:Gjd2 UTSW 2 113,842,346 (GRCm39) missense probably damaging 0.97
R1637:Gjd2 UTSW 2 113,841,789 (GRCm39) nonsense probably null
R1719:Gjd2 UTSW 2 113,843,614 (GRCm39) start codon destroyed probably null 1.00
R2051:Gjd2 UTSW 2 113,841,539 (GRCm39) missense probably damaging 1.00
R4809:Gjd2 UTSW 2 113,842,022 (GRCm39) missense probably damaging 1.00
R5596:Gjd2 UTSW 2 113,841,965 (GRCm39) missense possibly damaging 0.93
R6891:Gjd2 UTSW 2 113,843,575 (GRCm39) missense possibly damaging 0.85
R7338:Gjd2 UTSW 2 113,841,583 (GRCm39) missense probably damaging 1.00
R7461:Gjd2 UTSW 2 113,841,599 (GRCm39) missense possibly damaging 0.94
R7693:Gjd2 UTSW 2 113,842,309 (GRCm39) missense probably damaging 1.00
R8463:Gjd2 UTSW 2 113,842,053 (GRCm39) missense probably benign 0.00
R9133:Gjd2 UTSW 2 113,842,039 (GRCm39) missense probably benign
R9688:Gjd2 UTSW 2 113,842,109 (GRCm39) missense probably benign 0.34
R9785:Gjd2 UTSW 2 113,841,747 (GRCm39) nonsense probably null
X0065:Gjd2 UTSW 2 113,842,118 (GRCm39) missense probably benign 0.02
Posted On 2012-04-20