Incidental Mutation 'IGL03206:Gjd2'
| ID |
413148 |
| 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 # |
IGL03206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
113840082-113844100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113842204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 91
(L91P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090275]
|
| AlphaFold |
O54851 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090275
AA Change: L91P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: L91P
| 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: ENSMUST00000141209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143993
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,239 (GRCm39) |
E939D |
possibly damaging |
Het |
| Aloxe3 |
C |
A |
11: 69,020,472 (GRCm39) |
A172D |
possibly damaging |
Het |
| Bscl2 |
G |
A |
19: 8,820,453 (GRCm39) |
R158Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,414,602 (GRCm39) |
D1159G |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,714,023 (GRCm39) |
V203A |
probably benign |
Het |
| Chml |
T |
C |
1: 175,515,303 (GRCm39) |
D206G |
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,872,090 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,752,719 (GRCm39) |
Y77F |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,394,430 (GRCm39) |
N128K |
possibly damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,314 (GRCm39) |
|
probably benign |
Het |
| Gpr161 |
T |
A |
1: 165,149,218 (GRCm39) |
L529Q |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,522,776 (GRCm39) |
Y151* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,846,546 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,800 (GRCm39) |
V1241A |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,055 (GRCm39) |
N1321S |
probably benign |
Het |
| Lrat |
T |
A |
3: 82,810,656 (GRCm39) |
I122F |
probably damaging |
Het |
| Myl10 |
C |
T |
5: 136,726,796 (GRCm39) |
Q106* |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,148,660 (GRCm39) |
Y1018N |
possibly damaging |
Het |
| Ndrg1 |
C |
T |
15: 66,814,936 (GRCm39) |
W172* |
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,153,701 (GRCm39) |
M264T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,227,278 (GRCm39) |
R677S |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,314,667 (GRCm39) |
T306A |
probably benign |
Het |
| Numb |
A |
G |
12: 83,872,070 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,487,725 (GRCm39) |
I9K |
possibly damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,536 (GRCm39) |
M59L |
probably benign |
Het |
| Or5p58 |
C |
T |
7: 107,694,261 (GRCm39) |
C172Y |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,883,261 (GRCm39) |
D94E |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,345 (GRCm39) |
Q397K |
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,024,878 (GRCm39) |
L207H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,301,369 (GRCm39) |
I674N |
probably damaging |
Het |
| Retnlg |
G |
T |
16: 48,694,655 (GRCm39) |
C101F |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,993,634 (GRCm39) |
I849N |
probably damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,382,014 (GRCm39) |
I161T |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,315,771 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
A |
C |
11: 86,976,814 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
C |
A |
13: 65,183,407 (GRCm39) |
N316K |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,082,400 (GRCm39) |
S726P |
probably damaging |
Het |
| Trim69 |
A |
C |
2: 122,003,636 (GRCm39) |
D195A |
probably benign |
Het |
| Ttc16 |
T |
G |
2: 32,661,897 (GRCm39) |
|
probably null |
Het |
| Usp53 |
T |
A |
3: 122,746,832 (GRCm39) |
M405L |
probably benign |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
| Zfp335 |
G |
T |
2: 164,734,601 (GRCm39) |
|
probably benign |
Het |
| Zfp607a |
T |
C |
7: 27,577,248 (GRCm39) |
I106T |
possibly damaging |
Het |
| Zfp959 |
T |
C |
17: 56,204,613 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,546,406 (GRCm39) |
M868V |
possibly 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 |
|
IGL02862:Gjd2
|
APN |
2 |
113,843,624 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation