Incidental Mutation 'R7693:Gjd2'
ID 593481
Institutional Source Beutler Lab
Gene Symbol Gjd2
Ensembl Gene ENSMUSG00000068615
Gene Name gap junction protein, delta 2
Synonyms Cx36, Gja9, connexin36
MMRRC Submission 045708-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R7693 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 113840082-113844100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113842309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 56 (N56S)
Ref Sequence ENSEMBL: ENSMUSP00000087742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090275]
AlphaFold O54851
Predicted Effect probably damaging
Transcript: ENSMUST00000090275
AA Change: N56S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: N56S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C A 7: 45,827,968 (GRCm39) S63I probably damaging Het
Adcy10 A G 1: 165,398,340 (GRCm39) E1479G probably benign Het
Alpl C T 4: 137,471,120 (GRCm39) G339R probably damaging Het
Anapc1 A G 2: 128,483,457 (GRCm39) S1213P possibly damaging Het
Aoc3 C A 11: 101,223,338 (GRCm39) H525N probably benign Het
Arhgap33 A T 7: 30,225,537 (GRCm39) probably null Het
Arhgef4 A G 1: 34,763,222 (GRCm39) E826G probably benign Het
Art2a A T 7: 101,204,056 (GRCm39) *161R probably null Het
Azi2 A T 9: 117,876,661 (GRCm39) N59I probably damaging Het
Cdhr5 T C 7: 140,851,691 (GRCm39) T538A probably benign Het
Cilk1 A G 9: 78,065,008 (GRCm39) D306G probably benign Het
Csnk2b C A 17: 35,336,972 (GRCm39) G123C probably null Het
Dnaaf10 T C 11: 17,162,064 (GRCm39) V34A probably benign Het
Dnaja2 G T 8: 86,266,939 (GRCm39) P306Q probably damaging Het
Dusp19 A G 2: 80,447,905 (GRCm39) T60A probably benign Het
Epm2aip1 G A 9: 111,101,443 (GRCm39) G139S probably benign Het
Fer1l4 A G 2: 155,862,351 (GRCm39) F1774S possibly damaging Het
Fxyd3 T A 7: 30,770,598 (GRCm39) R66S probably benign Het
Gmcl1 A G 6: 86,691,239 (GRCm39) I252T probably benign Het
Gnl1 T C 17: 36,299,112 (GRCm39) C517R probably damaging Het
Grin1 T A 2: 25,208,679 (GRCm39) M74L possibly damaging Het
Hinfp A G 9: 44,209,642 (GRCm39) M244T probably damaging Het
Iqca1l T C 5: 24,751,626 (GRCm39) I541V probably benign Het
Kcnma1 T A 14: 23,417,680 (GRCm39) I850F probably damaging Het
Kif13a G T 13: 46,904,089 (GRCm39) T1748N probably benign Het
Lama1 C T 17: 68,124,026 (GRCm39) A2817V Het
Map6 C T 7: 98,985,499 (GRCm39) L671F possibly damaging Het
Neb C T 2: 52,189,581 (GRCm39) A770T probably damaging Het
Noc2l T A 4: 156,324,764 (GRCm39) H280Q probably damaging Het
Ntrk1 T C 3: 87,695,733 (GRCm39) D205G probably benign Het
Or5m5 A T 2: 85,814,979 (GRCm39) Y265F probably damaging Het
Or7a37 A T 10: 78,806,137 (GRCm39) Y218F probably damaging Het
Parp9 A G 16: 35,777,282 (GRCm39) S409G possibly damaging Het
Pcnx2 G A 8: 126,613,864 (GRCm39) T529I probably benign Het
Popdc3 A G 10: 45,191,227 (GRCm39) S113G probably benign Het
Rbm8a T C 3: 96,537,624 (GRCm39) I25T probably damaging Het
Rfc4 A G 16: 22,946,163 (GRCm39) W40R probably damaging Het
Rp1 T C 1: 4,417,626 (GRCm39) D1162G probably damaging Het
Slc14a2 G A 18: 78,197,218 (GRCm39) A846V possibly damaging Het
Spx A G 6: 142,360,516 (GRCm39) D56G probably damaging Het
Tanc2 T A 11: 105,814,293 (GRCm39) N1912K probably damaging Het
Tmcc1 T C 6: 116,001,843 (GRCm39) I559V Het
Tnfaip3 A G 10: 18,880,528 (GRCm39) V513A probably benign Het
Ucp3 T C 7: 100,131,799 (GRCm39) F217L probably benign Het
Zc3h11a A T 1: 133,573,475 (GRCm39) M55K probably damaging Het
Zfp316 G A 5: 143,249,167 (GRCm39) T156I unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTAGAGTACCGGCGTTCTC -3'
(R):5'- GTTCAGTACCACTCAAGGGTG -3'

Sequencing Primer
(F):5'- CGTTCTCGCTGCTTGGC -3'
(R):5'- CTGTTCAAGGACTGGTAAGCGC -3'
Posted On 2019-11-12