Incidental Mutation 'R5211:Gjc2'
| ID |
403143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gjc2
|
| Ensembl Gene |
ENSMUSG00000043448 |
| Gene Name |
gap junction protein, gamma 2 |
| Synonyms |
Gja12, B230382L12Rik, Cx47, connexin 47 |
| MMRRC Submission |
042785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59066394-59074039 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59068284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 66
(V66A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108790]
[ENSMUST00000108793]
|
| AlphaFold |
Q8BQU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108790
AA Change: V66A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: V66A
| 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 |
possibly damaging
Transcript: ENSMUST00000108793
AA Change: V66A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: V66A
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,394,233 (GRCm39) |
S181P |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,733,511 (GRCm39) |
T112S |
probably benign |
Het |
| Ascc2 |
T |
C |
11: 4,623,399 (GRCm39) |
V545A |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,396,550 (GRCm39) |
S69C |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,973,962 (GRCm39) |
I1378K |
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,695 (GRCm39) |
T263I |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 9,704,894 (GRCm39) |
V635D |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,731,648 (GRCm39) |
E1218G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,804,145 (GRCm39) |
I319V |
probably benign |
Het |
| Esd |
T |
C |
14: 74,978,632 (GRCm39) |
S65P |
probably damaging |
Het |
| Exoc1l |
C |
A |
5: 76,664,250 (GRCm39) |
T113K |
possibly damaging |
Het |
| Fstl3 |
A |
T |
10: 79,616,012 (GRCm39) |
Q166L |
probably benign |
Het |
| Garin1a |
A |
T |
6: 29,286,098 (GRCm39) |
K128* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,757,371 (GRCm39) |
S2445T |
probably benign |
Het |
| Gfy |
C |
A |
7: 44,827,282 (GRCm39) |
L271F |
possibly damaging |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Itm2c |
T |
A |
1: 85,834,249 (GRCm39) |
V188E |
probably damaging |
Het |
| Jmjd1c |
C |
G |
10: 67,067,795 (GRCm39) |
S1766C |
probably damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,428,538 (GRCm39) |
T255A |
probably benign |
Het |
| Kdm4d |
A |
C |
9: 14,374,400 (GRCm39) |
V486G |
probably benign |
Het |
| Krt18 |
T |
G |
15: 101,939,888 (GRCm39) |
I362S |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Ly6f |
G |
A |
15: 75,143,652 (GRCm39) |
V120M |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,451,321 (GRCm39) |
V1524A |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,889 (GRCm39) |
V43A |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,348,633 (GRCm39) |
M269L |
probably damaging |
Het |
| Myrfl |
C |
T |
10: 116,634,535 (GRCm39) |
V620I |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,783,381 (GRCm39) |
C908Y |
probably damaging |
Het |
| Nyap2 |
T |
A |
1: 81,064,991 (GRCm39) |
M1K |
probably null |
Het |
| Olfml3 |
A |
T |
3: 103,644,515 (GRCm39) |
H51Q |
probably benign |
Het |
| Or11h6 |
C |
T |
14: 50,880,710 (GRCm39) |
T324I |
possibly damaging |
Het |
| Pcdhb1 |
G |
A |
18: 37,399,704 (GRCm39) |
V552I |
probably benign |
Het |
| Pm20d1 |
T |
A |
1: 131,734,647 (GRCm39) |
I353N |
possibly damaging |
Het |
| Sbk2 |
A |
G |
7: 4,965,966 (GRCm39) |
F73L |
possibly damaging |
Het |
| Scn10a |
A |
C |
9: 119,490,298 (GRCm39) |
L548R |
possibly damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,204,117 (GRCm39) |
Y68C |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,707,093 (GRCm39) |
V611A |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,769,814 (GRCm39) |
M164V |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,041,626 (GRCm39) |
S43G |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,723,651 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,746,257 (GRCm39) |
Y535C |
possibly damaging |
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 |
|
IGL02191:Gjc2
|
APN |
11 |
59,068,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATCCTCCTCTAGAGCCAATATGGG -3'
(R):5'- TGACCAACATGAGCTGGAG -3'
Sequencing Primer
(F):5'- TCTCCCAGATCGGTGGTGTC -3'
(R):5'- TGGAGCTTCCTGACGCG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation