Incidental Mutation 'R1637:Gjd2'
| ID |
173224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gjd2
|
| Ensembl Gene |
ENSMUSG00000068615 |
| Gene Name |
gap junction protein, delta 2 |
| Synonyms |
Cx36, Gja9, connexin36 |
| MMRRC Submission |
039673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R1637 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
113840082-113844100 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 113841789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 229
(Y229*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090275]
|
| AlphaFold |
O54851 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090275
AA Change: Y229*
|
| SMART Domains |
Protein: ENSMUSP00000087742
Gene: ENSMUSG00000068615
AA Change: Y229*
| 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: ENSMUST00000143993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152254
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
A |
5: 109,886,858 (GRCm39) |
H50L |
probably benign |
Het |
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,931,827 (GRCm39) |
R316G |
probably benign |
Het |
| Ankrd39 |
G |
A |
1: 36,578,573 (GRCm39) |
Q151* |
probably null |
Het |
| Arl13b |
T |
C |
16: 62,651,147 (GRCm39) |
D30G |
probably damaging |
Het |
| Atpaf1 |
A |
G |
4: 115,645,499 (GRCm39) |
S123G |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,614 (GRCm39) |
S1276P |
probably benign |
Het |
| Car1 |
T |
C |
3: 14,842,846 (GRCm39) |
I60V |
possibly damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,215,644 (GRCm39) |
I411V |
probably damaging |
Het |
| Cyp2c37 |
A |
T |
19: 39,990,426 (GRCm39) |
K375* |
probably null |
Het |
| Cysrt1 |
T |
C |
2: 25,129,297 (GRCm39) |
I72V |
probably benign |
Het |
| Dock9 |
T |
A |
14: 121,889,187 (GRCm39) |
D312V |
possibly damaging |
Het |
| Ecd |
T |
C |
14: 20,396,760 (GRCm39) |
I42V |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,694 (GRCm39) |
T536A |
probably benign |
Het |
| Gramd1b |
A |
T |
9: 40,215,834 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,140,281 (GRCm39) |
T336A |
probably benign |
Het |
| Hjurp |
G |
A |
1: 88,193,843 (GRCm39) |
S279F |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,244,608 (GRCm39) |
L152F |
probably benign |
Het |
| Izumo1r |
A |
G |
9: 14,813,105 (GRCm39) |
C56R |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,352,585 (GRCm39) |
E850G |
probably damaging |
Het |
| Larp4b |
C |
G |
13: 9,201,133 (GRCm39) |
T335S |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,118,268 (GRCm39) |
R42S |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,618,261 (GRCm39) |
L920R |
probably benign |
Het |
| Mapk8 |
G |
A |
14: 33,132,919 (GRCm39) |
R6C |
probably benign |
Het |
| Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
| Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,474 (GRCm39) |
M66I |
probably benign |
Het |
| Nkpd1 |
T |
C |
7: 19,257,904 (GRCm39) |
I411T |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 89,321,238 (GRCm39) |
N382S |
possibly damaging |
Het |
| Or2t47 |
A |
T |
11: 58,442,246 (GRCm39) |
V273E |
possibly damaging |
Het |
| Or4c114 |
A |
T |
2: 88,905,396 (GRCm39) |
L13Q |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,664,060 (GRCm39) |
E303G |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,413 (GRCm39) |
M1047K |
probably benign |
Het |
| Pofut1 |
T |
G |
2: 153,107,709 (GRCm39) |
F268C |
probably damaging |
Het |
| Psrc1 |
G |
T |
3: 108,292,609 (GRCm39) |
S134I |
probably damaging |
Het |
| Slc6a2 |
A |
T |
8: 93,708,618 (GRCm39) |
I245F |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,149,534 (GRCm39) |
S787P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,736,798 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
A |
12: 76,042,776 (GRCm39) |
H3916N |
probably damaging |
Het |
| Taar6 |
A |
G |
10: 23,861,079 (GRCm39) |
S156P |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,975,170 (GRCm39) |
F86L |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Ttll8 |
A |
G |
15: 88,798,647 (GRCm39) |
V696A |
probably benign |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,222 (GRCm39) |
C301S |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,207,573 (GRCm39) |
Y928C |
probably benign |
Het |
| Zfand1 |
G |
A |
3: 10,411,042 (GRCm39) |
A104V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCCGAAATTGGGAACACTGAC -3'
(R):5'- AGAGCTGACTCCACATCCATCTGG -3'
Sequencing Primer
(F):5'- CGAGGCAGATCTTTGTTACGTATC -3'
(R):5'- CACATCCATCTGGGCTGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation