Incidental Mutation 'IGL02191:Gjc2'
| ID |
283876 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gjc2
|
| Ensembl Gene |
ENSMUSG00000043448 |
| Gene Name |
gap junction protein, gamma 2 |
| Synonyms |
Gja12, B230382L12Rik, Cx47, connexin 47 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02191
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59066394-59074039 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59068386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 32
(V32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108790]
[ENSMUST00000108793]
|
| AlphaFold |
Q8BQU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108790
AA Change: V32A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: V32A
| Domain | Start | End | E-Value | Type |
|---|
|
CNX
|
45 |
78 |
3.37e-17 |
SMART |
|
low complexity region
|
101 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
193 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
222 |
288 |
9.88e-42 |
SMART |
|
low complexity region
|
298 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108793
AA Change: V32A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: V32A
| Domain | Start | End | E-Value | Type |
|---|
|
CNX
|
45 |
78 |
3.37e-17 |
SMART |
|
low complexity region
|
101 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
193 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
222 |
288 |
9.88e-42 |
SMART |
|
low complexity region
|
298 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
405 |
N/A |
INTRINSIC |
|
| 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 gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele are viable and behaviorally normal with no CNS demyelination detected in the spinal cord. In contrast, mice homozygous for a different null allele display a conspicuous vacuolation of CNS nerve fibers, especially in the myelinated region of the optic nerve. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
| Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
| C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
| Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
| Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
| Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
| Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
| Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
| Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
| Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
| Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
| Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
| Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
| Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Gjc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01667:Gjc2
|
APN |
11 |
59,068,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4342:Gjc2
|
UTSW |
11 |
59,073,569 (GRCm39) |
unclassified |
probably benign |
|
|
R0086:Gjc2
|
UTSW |
11 |
59,067,672 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0201:Gjc2
|
UTSW |
11 |
59,068,416 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1478:Gjc2
|
UTSW |
11 |
59,068,434 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5211:Gjc2
|
UTSW |
11 |
59,068,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5395:Gjc2
|
UTSW |
11 |
59,068,315 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5560:Gjc2
|
UTSW |
11 |
59,068,185 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5906:Gjc2
|
UTSW |
11 |
59,067,667 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6909:Gjc2
|
UTSW |
11 |
59,067,918 (GRCm39) |
missense |
unknown |
|
|
R7055:Gjc2
|
UTSW |
11 |
59,067,856 (GRCm39) |
missense |
unknown |
|
|
R7241:Gjc2
|
UTSW |
11 |
59,067,960 (GRCm39) |
missense |
unknown |
|
|
R8353:Gjc2
|
UTSW |
11 |
59,067,840 (GRCm39) |
missense |
unknown |
|
|
R8416:Gjc2
|
UTSW |
11 |
59,068,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8546:Gjc2
|
UTSW |
11 |
59,067,182 (GRCm39) |
missense |
unknown |
|
|
R9276:Gjc2
|
UTSW |
11 |
59,068,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gjc2
|
UTSW |
11 |
59,068,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1186:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
Z1187:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1187:Gjc2
|
UTSW |
11 |
59,067,259 (GRCm39) |
missense |
unknown |
|
|
Z1188:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1188:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
Z1188:Gjc2
|
UTSW |
11 |
59,067,259 (GRCm39) |
missense |
unknown |
|
|
Z1189:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1189:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
Z1190:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1191:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1191:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
Z1191:Gjc2
|
UTSW |
11 |
59,067,259 (GRCm39) |
missense |
unknown |
|
|
Z1192:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1192:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation