Incidental Mutation 'R8546:Gjc2'
ID |
659645 |
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 |
068511-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8546 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
59066394-59074039 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 59067182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 433
(D433E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108790]
[ENSMUST00000108793]
|
AlphaFold |
Q8BQU6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000108790
AA Change: D433E
|
SMART Domains |
Protein: ENSMUSP00000104418 Gene: ENSMUSG00000043448 AA Change: D433E
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 |
unknown
Transcript: ENSMUST00000108793
AA Change: D433E
|
SMART Domains |
Protein: ENSMUSP00000104421 Gene: ENSMUSG00000043448 AA Change: D433E
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot1 |
T |
C |
12: 84,064,139 (GRCm39) |
S416P |
probably benign |
Het |
Adcy9 |
G |
T |
16: 4,236,769 (GRCm39) |
A214E |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,901,083 (GRCm39) |
W971R |
probably damaging |
Het |
Axl |
C |
T |
7: 25,473,588 (GRCm39) |
R346H |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,630,397 (GRCm39) |
N399S |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,578,101 (GRCm39) |
D532G |
probably damaging |
Het |
Cdh20 |
A |
G |
1: 104,861,769 (GRCm39) |
|
probably benign |
Het |
Cfap97d1 |
A |
G |
11: 101,881,687 (GRCm39) |
R77G |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,533,158 (GRCm39) |
S625C |
probably damaging |
Het |
Col3a1 |
G |
A |
1: 45,380,099 (GRCm39) |
|
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,206,102 (GRCm39) |
L281P |
probably damaging |
Het |
Cyb5a |
G |
A |
18: 84,889,759 (GRCm39) |
|
probably null |
Het |
Cyb5rl |
T |
A |
4: 106,925,923 (GRCm39) |
V35D |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 118,015,101 (GRCm39) |
F381S |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,755,208 (GRCm39) |
N991K |
unknown |
Het |
Eif6 |
A |
G |
2: 155,668,420 (GRCm39) |
|
probably benign |
Het |
Fahd1 |
T |
C |
17: 25,069,057 (GRCm39) |
M7V |
possibly damaging |
Het |
Fam171b |
A |
G |
2: 83,685,795 (GRCm39) |
T160A |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,857,825 (GRCm39) |
V2040I |
probably benign |
Het |
H2bc13 |
G |
A |
13: 21,900,042 (GRCm39) |
T91M |
probably damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
Irx6 |
A |
T |
8: 93,405,264 (GRCm39) |
R377S |
probably benign |
Het |
Khnyn |
A |
G |
14: 56,123,275 (GRCm39) |
T10A |
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,686,242 (GRCm39) |
H389L |
probably damaging |
Het |
Lin7c |
A |
G |
2: 109,726,716 (GRCm39) |
I122V |
probably null |
Het |
Lonp1 |
G |
A |
17: 56,933,702 (GRCm39) |
P58S |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,596,027 (GRCm39) |
H142R |
probably benign |
Het |
Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
Mettl2 |
T |
A |
11: 105,022,399 (GRCm39) |
N196K |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,123,201 (GRCm39) |
E712G |
probably benign |
Het |
Ncam2 |
C |
T |
16: 81,314,419 (GRCm39) |
T465I |
probably benign |
Het |
Or7e169 |
T |
A |
9: 19,757,685 (GRCm39) |
T77S |
probably damaging |
Het |
Padi4 |
T |
C |
4: 140,484,841 (GRCm39) |
E340G |
probably damaging |
Het |
Patj |
T |
A |
4: 98,325,634 (GRCm39) |
S490R |
probably benign |
Het |
Pkd1l3 |
G |
A |
8: 110,393,615 (GRCm39) |
S1981N |
possibly damaging |
Het |
Poll |
T |
A |
19: 45,546,416 (GRCm39) |
D208V |
probably damaging |
Het |
Polr3f |
A |
G |
2: 144,374,284 (GRCm39) |
D64G |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,480,899 (GRCm39) |
Y340C |
probably damaging |
Het |
Prmt6 |
C |
T |
3: 110,158,034 (GRCm39) |
R85Q |
possibly damaging |
Het |
Rgl3 |
T |
C |
9: 21,899,156 (GRCm39) |
K140R |
probably benign |
Het |
Rhoj |
A |
G |
12: 75,422,124 (GRCm39) |
T61A |
probably benign |
Het |
Skor1 |
T |
C |
9: 63,049,570 (GRCm39) |
D795G |
probably damaging |
Het |
Slc28a2b |
A |
T |
2: 122,353,235 (GRCm39) |
M472L |
probably benign |
Het |
Tekt5 |
A |
G |
16: 10,175,877 (GRCm39) |
V556A |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,084,374 (GRCm39) |
I68F |
probably damaging |
Het |
Tnni3k |
G |
T |
3: 154,498,444 (GRCm39) |
N798K |
probably benign |
Het |
Tuft1 |
T |
A |
3: 94,529,420 (GRCm39) |
E227D |
probably benign |
Het |
Tulp1 |
T |
C |
17: 28,582,710 (GRCm39) |
K146R |
probably benign |
Het |
Usp24 |
G |
A |
4: 106,259,326 (GRCm39) |
A1616T |
probably benign |
Het |
Ythdc1 |
A |
T |
5: 86,974,607 (GRCm39) |
K452N |
possibly damaging |
Het |
Zscan4-ps3 |
T |
A |
7: 11,346,697 (GRCm39) |
H244Q |
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 |
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 |
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'- AGTCAATTCCTAGGACACAGC -3'
(R):5'- TGGGCTCAATGCAACCTCTC -3'
Sequencing Primer
(F):5'- GGTCACATATAAGACCCTGGTC -3'
(R):5'- TCAATGCAACCTCTCGGGGG -3'
|
Posted On |
2021-01-18 |