Incidental Mutation 'IGL02307:Gjd2'
ID 287640
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 # IGL02307
Quality Score
Status
Chromosome 2
Chromosomal Location 113840082-113844100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113842394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 28 (T28A)
Ref Sequence ENSEMBL: ENSMUSP00000087742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090275]
AlphaFold O54851
Predicted Effect possibly damaging
Transcript: ENSMUST00000090275
AA Change: T28A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: T28A

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: ENSMUST00000141209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152254
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Ankrd28 A G 14: 31,455,665 (GRCm39) C417R probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Bdp1 C A 13: 100,229,946 (GRCm39) G256V probably damaging Het
Cald1 A G 6: 34,730,390 (GRCm39) K252E probably damaging Het
Ccdc141 T C 2: 76,859,686 (GRCm39) E985G probably damaging Het
Cdc23 A G 18: 34,774,442 (GRCm39) I279T possibly damaging Het
Col16a1 C T 4: 129,952,802 (GRCm39) P416L probably damaging Het
Coro1a T C 7: 126,300,736 (GRCm39) D197G probably damaging Het
Ctnnd2 C T 15: 30,647,357 (GRCm39) T351I possibly damaging Het
Fam76b A G 9: 13,755,332 (GRCm39) N313S probably damaging Het
Fbxw20 C A 9: 109,062,601 (GRCm39) W75L possibly damaging Het
Glyctk A C 9: 106,032,963 (GRCm39) L350R possibly damaging Het
Gm20726 A T 14: 54,870,060 (GRCm39) V237D probably damaging Het
Gm57858 T C 3: 36,073,016 (GRCm39) K422R possibly damaging Het
Gpr22 C A 12: 31,758,739 (GRCm39) C461F possibly damaging Het
Grhl2 A G 15: 37,288,532 (GRCm39) T279A probably damaging Het
Gstm3 G A 3: 107,874,929 (GRCm39) R108C probably damaging Het
Haus6 T C 4: 86,502,072 (GRCm39) T600A possibly damaging Het
Htra4 G A 8: 25,523,710 (GRCm39) A285V probably damaging Het
Igkv14-100 C T 6: 68,496,349 (GRCm39) P81S probably damaging Het
Kif24 T G 4: 41,395,274 (GRCm39) Q533P probably benign Het
Klhl1 A T 14: 96,438,809 (GRCm39) N496K possibly damaging Het
Lama3 G T 18: 12,714,840 (GRCm39) R1667L probably benign Het
Lct T A 1: 128,214,327 (GRCm39) H1815L possibly damaging Het
Mrgprb2 T A 7: 48,202,644 (GRCm39) Y27F probably benign Het
Mrpl15 A T 1: 4,854,176 (GRCm39) H86Q possibly damaging Het
Myo10 C T 15: 25,776,401 (GRCm39) probably benign Het
Nrp1 T C 8: 129,229,201 (GRCm39) L893P probably damaging Het
Or4n4b A C 14: 50,536,295 (GRCm39) I157S probably damaging Het
Or51a8 A T 7: 102,550,086 (GRCm39) N171Y probably benign Het
Ovol1 T A 19: 5,603,643 (GRCm39) D86V possibly damaging Het
Pacs2 T A 12: 113,034,393 (GRCm39) M851K probably damaging Het
Pde1a A T 2: 79,736,412 (GRCm39) M39K possibly damaging Het
Pdpn T C 4: 143,000,550 (GRCm39) H94R possibly damaging Het
Plcg2 T A 8: 118,306,635 (GRCm39) probably null Het
Pzp A T 6: 128,466,049 (GRCm39) Y1210* probably null Het
Rnf148 G T 6: 23,654,890 (GRCm39) S35R probably benign Het
Ros1 A T 10: 52,004,534 (GRCm39) S1008T possibly damaging Het
Rps18-ps6 G T 13: 97,896,871 (GRCm39) Q76K probably benign Het
Sis A T 3: 72,819,167 (GRCm39) probably benign Het
Spag9 T A 11: 93,992,986 (GRCm39) probably null Het
Srbd1 A G 17: 86,433,616 (GRCm39) L327P probably damaging Het
Steap3 A T 1: 120,169,390 (GRCm39) Y264* probably null Het
Swap70 A G 7: 109,880,501 (GRCm39) E572G probably benign Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trmt11 T C 10: 30,470,150 (GRCm39) D58G possibly damaging Het
Tsc22d1 T C 14: 76,653,901 (GRCm39) S127P probably damaging Het
Usf1 T A 1: 171,243,314 (GRCm39) S30R probably damaging Het
Ush1c A G 7: 45,846,612 (GRCm39) probably benign Het
Utrn A T 10: 12,625,809 (GRCm39) L124* probably null Het
Vmn2r75 T C 7: 85,814,974 (GRCm39) N173S probably benign Het
Zic2 T C 14: 122,714,046 (GRCm39) V320A possibly 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
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 2015-04-16