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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |