Incidental Mutation 'R5596:Gjd2'
ID |
437809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gjd2
|
Ensembl Gene |
ENSMUSG00000068615 |
Gene Name |
gap junction protein, delta 2 |
Synonyms |
Cx36, Gja9, connexin36 |
MMRRC Submission |
043148-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R5596 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
113840082-113844100 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 113841965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 171
(V171F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090275]
|
AlphaFold |
O54851 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090275
AA Change: V171F
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087742 Gene: ENSMUSG00000068615 AA Change: V171F
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: ENSMUST00000152254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143993
|
Meta Mutation Damage Score |
0.0937 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
Validation Efficiency |
100% (40/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
Capzb |
T |
G |
4: 139,006,738 (GRCm39) |
|
probably benign |
Het |
Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,676,020 (GRCm39) |
L225P |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
Impg1 |
A |
T |
9: 80,252,500 (GRCm39) |
V483E |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,415,799 (GRCm39) |
N196S |
probably damaging |
Het |
Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
Musk |
T |
C |
4: 58,373,036 (GRCm39) |
C654R |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tmcc2 |
T |
C |
1: 132,288,221 (GRCm39) |
N489D |
probably damaging |
Het |
Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTTGATGCAGGGGTAACG -3'
(R):5'- AGAACGCCGGTACTCTACTGTC -3'
Sequencing Primer
(F):5'- GGGTAACGGTTGCACTCATAC -3'
(R):5'- TCTTCCTAGCCCTGGACAGAGAC -3'
|
Posted On |
2016-10-26 |