Incidental Mutation 'IGL03384:Panx2'
ID |
420818 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Panx2
|
Ensembl Gene |
ENSMUSG00000058441 |
Gene Name |
pannexin 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03384
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
88943937-88957770 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 88952322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 271
(A271V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161372]
[ENSMUST00000162424]
|
AlphaFold |
Q6IMP4 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150364
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159412
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159960
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161372
AA Change: A271V
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125514 Gene: ENSMUSG00000058441 AA Change: A271V
Domain | Start | End | E-Value | Type |
Pfam:Innexin
|
48 |
274 |
2.1e-11 |
PFAM |
transmembrane domain
|
302 |
324 |
N/A |
INTRINSIC |
low complexity region
|
429 |
438 |
N/A |
INTRINSIC |
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
low complexity region
|
601 |
617 |
N/A |
INTRINSIC |
low complexity region
|
630 |
648 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161483
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161735
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162424
AA Change: A263V
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124354 Gene: ENSMUSG00000058441 AA Change: A263V
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
Pfam:Innexin
|
49 |
263 |
5.6e-18 |
PFAM |
transmembrane domain
|
294 |
316 |
N/A |
INTRINSIC |
low complexity region
|
421 |
430 |
N/A |
INTRINSIC |
low complexity region
|
490 |
505 |
N/A |
INTRINSIC |
low complexity region
|
593 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162579
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a slight protection from the neurological defects induced by ischemic brain injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
G |
11: 72,086,673 (GRCm39) |
I246T |
possibly damaging |
Het |
Ablim2 |
C |
T |
5: 36,032,216 (GRCm39) |
R614C |
probably damaging |
Het |
B4galt7 |
T |
C |
13: 55,757,102 (GRCm39) |
L265P |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,462,159 (GRCm39) |
C1072Y |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,197,950 (GRCm39) |
V148A |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,573,514 (GRCm39) |
V2942M |
probably benign |
Het |
Fam124b |
T |
A |
1: 80,177,673 (GRCm39) |
H442L |
probably benign |
Het |
Haus6 |
T |
C |
4: 86,501,762 (GRCm39) |
H703R |
probably benign |
Het |
Ice1 |
T |
C |
13: 70,751,368 (GRCm39) |
T1573A |
probably benign |
Het |
Iftap |
G |
T |
2: 101,415,608 (GRCm39) |
T115N |
probably benign |
Het |
Ighv1-31 |
A |
G |
12: 114,793,093 (GRCm39) |
F48L |
probably benign |
Het |
Iws1 |
C |
A |
18: 32,226,203 (GRCm39) |
A697D |
probably damaging |
Het |
Jhy |
T |
A |
9: 40,872,228 (GRCm39) |
N94Y |
probably benign |
Het |
Kank2 |
C |
T |
9: 21,685,874 (GRCm39) |
V667M |
possibly damaging |
Het |
Mcam |
G |
A |
9: 44,051,809 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,366,140 (GRCm39) |
I2099F |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,742,800 (GRCm39) |
I410V |
probably damaging |
Het |
Nub1 |
A |
T |
5: 24,902,425 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
T |
5: 24,902,424 (GRCm39) |
|
probably null |
Het |
Or10g9b |
T |
C |
9: 39,917,766 (GRCm39) |
T160A |
probably benign |
Het |
Papss1 |
T |
A |
3: 131,285,113 (GRCm39) |
H13Q |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,784,871 (GRCm39) |
T438A |
probably benign |
Het |
Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
Ptchd4 |
T |
A |
17: 42,813,481 (GRCm39) |
C461S |
probably damaging |
Het |
Rapgef2 |
A |
G |
3: 78,990,853 (GRCm39) |
F985S |
probably damaging |
Het |
Rbm25 |
T |
C |
12: 83,706,297 (GRCm39) |
I214T |
probably benign |
Het |
Sgpp1 |
T |
C |
12: 75,762,880 (GRCm39) |
|
probably benign |
Het |
Slc22a20 |
A |
T |
19: 6,030,402 (GRCm39) |
C343* |
probably null |
Het |
Slc22a22 |
T |
C |
15: 57,117,612 (GRCm39) |
I310V |
probably benign |
Het |
Slc6a13 |
T |
C |
6: 121,309,350 (GRCm39) |
F287S |
probably damaging |
Het |
Usp30 |
A |
G |
5: 114,259,635 (GRCm39) |
D447G |
probably damaging |
Het |
Vmn1r78 |
A |
T |
7: 11,887,136 (GRCm39) |
Y249F |
possibly damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,488,405 (GRCm39) |
T665A |
probably damaging |
Het |
Vps37b |
A |
G |
5: 124,145,670 (GRCm39) |
|
probably null |
Het |
Wfdc1 |
T |
A |
8: 120,413,016 (GRCm39) |
N198K |
probably benign |
Het |
|
Other mutations in Panx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01951:Panx2
|
APN |
15 |
88,952,970 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02112:Panx2
|
APN |
15 |
88,953,772 (GRCm39) |
missense |
probably benign |
|
F6893:Panx2
|
UTSW |
15 |
88,952,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R0453:Panx2
|
UTSW |
15 |
88,952,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Panx2
|
UTSW |
15 |
88,953,941 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2912:Panx2
|
UTSW |
15 |
88,954,024 (GRCm39) |
missense |
probably benign |
0.01 |
R3826:Panx2
|
UTSW |
15 |
88,952,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R4424:Panx2
|
UTSW |
15 |
88,952,423 (GRCm39) |
missense |
probably benign |
0.02 |
R4593:Panx2
|
UTSW |
15 |
88,952,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5176:Panx2
|
UTSW |
15 |
88,944,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Panx2
|
UTSW |
15 |
88,952,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R5333:Panx2
|
UTSW |
15 |
88,952,742 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5381:Panx2
|
UTSW |
15 |
88,944,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R5412:Panx2
|
UTSW |
15 |
88,953,135 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5450:Panx2
|
UTSW |
15 |
88,953,162 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5989:Panx2
|
UTSW |
15 |
88,944,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R6255:Panx2
|
UTSW |
15 |
88,951,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R7585:Panx2
|
UTSW |
15 |
88,952,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R7685:Panx2
|
UTSW |
15 |
88,951,973 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7899:Panx2
|
UTSW |
15 |
88,952,936 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8030:Panx2
|
UTSW |
15 |
88,952,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R9458:Panx2
|
UTSW |
15 |
88,952,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R9458:Panx2
|
UTSW |
15 |
88,952,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2016-08-02 |