Incidental Mutation 'IGL02862:Gjd2'
ID362204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjd2
Ensembl Gene ENSMUSG00000068615
Gene Namegap junction protein, delta 2
Synonymsconnexin36, Cx36, Gja9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #IGL02862
Quality Score
Status
Chromosome2
Chromosomal Location114009601-114013619 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 114013143 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090275]
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: ENSMUST00000141209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152254
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: 28,912,234 probably benign Het
Adhfe1 T C 1: 9,553,811 L170P probably damaging Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Akr1e1 T C 13: 4,609,093 T11A possibly damaging Het
Arhgap23 A G 11: 97,456,480 E668G probably damaging Het
Ccdc163 G A 4: 116,712,713 probably null Het
Egfr A T 11: 16,883,562 Y610F probably benign Het
Ercc3 T C 18: 32,243,202 probably null Het
Fasn G T 11: 120,818,979 H417Q possibly damaging Het
Grip2 C T 6: 91,788,104 R59H probably damaging Het
Hist1h2bj C T 13: 22,043,345 S39L possibly damaging Het
Ighv1-43 A G 12: 114,946,239 V21A probably damaging Het
Ltbp1 G A 17: 75,390,471 G1368D probably damaging Het
Mogs G T 6: 83,115,890 G104C probably damaging Het
Nfix T A 8: 84,713,846 T472S probably benign Het
Olfr1034 T C 2: 86,047,304 V274A probably benign Het
Ovch2 A T 7: 107,794,931 V105E probably damaging Het
Pex1 G T 5: 3,605,424 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Prl7a1 T C 13: 27,639,889 T70A probably benign Het
Shmt2 C T 10: 127,518,874 R311Q probably benign Het
St3gal4 A G 9: 35,052,247 I255T probably benign Het
Taf8 C T 17: 47,494,414 A187T probably damaging Het
Tm6sf1 T A 7: 81,870,756 V62D probably damaging Het
Trpm5 A T 7: 143,082,525 W537R probably damaging Het
Vmn2r101 T A 17: 19,611,605 L621H probably damaging Het
Other mutations in Gjd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Gjd2 APN 2 114011777 missense probably damaging 1.00
IGL01759:Gjd2 APN 2 114011106 missense probably benign 0.00
IGL02307:Gjd2 APN 2 114011913 missense possibly damaging 0.95
IGL03206:Gjd2 APN 2 114011723 missense probably damaging 1.00
R0212:Gjd2 UTSW 2 114011472 missense probably benign 0.00
R1306:Gjd2 UTSW 2 114011865 missense probably damaging 0.97
R1637:Gjd2 UTSW 2 114011308 nonsense probably null
R1719:Gjd2 UTSW 2 114013133 start codon destroyed probably null 1.00
R2051:Gjd2 UTSW 2 114011058 missense probably damaging 1.00
R4809:Gjd2 UTSW 2 114011541 missense probably damaging 1.00
R5596:Gjd2 UTSW 2 114011484 missense possibly damaging 0.93
R6891:Gjd2 UTSW 2 114013094 missense possibly damaging 0.85
R7338:Gjd2 UTSW 2 114011102 missense probably damaging 1.00
R7461:Gjd2 UTSW 2 114011118 missense possibly damaging 0.94
R7693:Gjd2 UTSW 2 114011828 missense probably damaging 1.00
X0065:Gjd2 UTSW 2 114011637 missense probably benign 0.02
Posted On2015-12-18