Incidental Mutation 'IGL02862:Gjd2'
ID 362204
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 # IGL02862
Quality Score
Status
Chromosome 2
Chromosomal Location 113840082-113844100 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 113843624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090275]
AlphaFold O54851
Predicted Effect probably benign
Transcript: ENSMUST00000090275
SMART Domains Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615

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: ENSMUST00000147411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143993
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A G 7: 28,611,659 (GRCm39) probably benign Het
Adhfe1 T C 1: 9,624,036 (GRCm39) L170P probably damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akr1e1 T C 13: 4,659,092 (GRCm39) T11A possibly damaging Het
Arhgap23 A G 11: 97,347,306 (GRCm39) E668G probably damaging Het
Ccdc163 G A 4: 116,569,910 (GRCm39) probably null Het
Egfr A T 11: 16,833,562 (GRCm39) Y610F probably benign Het
Ercc3 T C 18: 32,376,255 (GRCm39) probably null Het
Fasn G T 11: 120,709,805 (GRCm39) H417Q possibly damaging Het
Grip2 C T 6: 91,765,085 (GRCm39) R59H probably damaging Het
H2bc11 C T 13: 22,227,515 (GRCm39) S39L possibly damaging Het
Ighv1-43 A G 12: 114,909,859 (GRCm39) V21A probably damaging Het
Ltbp1 G A 17: 75,697,466 (GRCm39) G1368D probably damaging Het
Mogs G T 6: 83,092,871 (GRCm39) G104C probably damaging Het
Nfix T A 8: 85,440,475 (GRCm39) T472S probably benign Het
Or5m9 T C 2: 85,877,648 (GRCm39) V274A probably benign Het
Ovch2 A T 7: 107,394,138 (GRCm39) V105E probably damaging Het
Pex1 G T 5: 3,655,424 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Prl7a1 T C 13: 27,823,872 (GRCm39) T70A probably benign Het
Shmt2 C T 10: 127,354,743 (GRCm39) R311Q probably benign Het
St3gal4 A G 9: 34,963,543 (GRCm39) I255T probably benign Het
Taf8 C T 17: 47,805,339 (GRCm39) A187T probably damaging Het
Tm6sf1 T A 7: 81,520,504 (GRCm39) V62D probably damaging Het
Trpm5 A T 7: 142,636,262 (GRCm39) W537R probably damaging Het
Vmn2r101 T A 17: 19,831,867 (GRCm39) L621H probably damaging Het
Other mutations in Gjd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Gjd2 APN 2 113,842,258 (GRCm39) missense probably damaging 1.00
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
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 2015-12-18