Incidental Mutation 'F6893:Panx2'
| ID |
223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Panx2
|
| Ensembl Gene |
ENSMUSG00000058441 |
| Gene Name |
pannexin 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
F6893 (G3)
of strain
busy
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88943937-88957770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88952213 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 227
(Y227H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124354
(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 |
probably damaging
Transcript: ENSMUST00000161372
AA Change: Y235H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441
AA Change: Y235H
| 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 |
probably damaging
Transcript: ENSMUST00000162424
AA Change: Y227H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: Y227H
| 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
|
| Meta Mutation Damage Score |
0.9512 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (165/188) |
| 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 |
|---|
| Abca14 |
G |
A |
7: 119,924,261 (GRCm39) |
V1638M |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,258,636 (GRCm39) |
R972Q |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,972,853 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
G |
T |
2: 153,829,078 (GRCm39) |
D202Y |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,936 (GRCm39) |
T346I |
probably damaging |
Homo |
| Celsr3 |
G |
A |
9: 108,712,266 (GRCm39) |
R1731H |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,873,859 (GRCm39) |
R443G |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,157,620 (GRCm39) |
Q175R |
possibly damaging |
Het |
| Dpyd |
T |
A |
3: 118,597,783 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
T |
16: 96,857,660 (GRCm39) |
H117N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,155,999 (GRCm39) |
Y205H |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,918,085 (GRCm39) |
L1446R |
probably damaging |
Homo |
| Golga4 |
T |
C |
9: 118,382,525 (GRCm39) |
L515S |
probably damaging |
Het |
| Hoxb1 |
A |
T |
11: 96,256,728 (GRCm39) |
T26S |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,481 (GRCm39) |
T567P |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,359,755 (GRCm39) |
V365A |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,242 (GRCm39) |
I127M |
possibly damaging |
Het |
| Mpi |
A |
T |
9: 57,453,832 (GRCm39) |
M230K |
probably benign |
Homo |
| Myh4 |
A |
G |
11: 67,146,283 (GRCm39) |
D1447G |
probably null |
Homo |
| Or1f19 |
A |
G |
16: 3,411,027 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,819 (GRCm39) |
T254A |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,173 (GRCm39) |
W441R |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,410,020 (GRCm39) |
I267M |
probably damaging |
Homo |
| Pros1 |
T |
A |
16: 62,745,002 (GRCm39) |
V539E |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,450,425 (GRCm39) |
M4157T |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,909,075 (GRCm39) |
E424G |
probably benign |
Homo |
| Slc9a1 |
A |
G |
4: 133,149,457 (GRCm39) |
E761G |
probably benign |
Homo |
| Stab2 |
G |
A |
10: 86,691,035 (GRCm39) |
P2178L |
probably damaging |
Het |
| Syt4 |
C |
T |
18: 31,577,274 (GRCm39) |
V27I |
possibly damaging |
Homo |
| Thumpd1 |
T |
A |
7: 119,319,799 (GRCm39) |
K56* |
probably null |
Het |
| Tpr |
A |
G |
1: 150,269,313 (GRCm39) |
K19E |
possibly damaging |
Homo |
| Ttll10 |
A |
G |
4: 156,132,775 (GRCm39) |
I74T |
probably benign |
Het |
| Txnrd1 |
C |
T |
10: 82,702,823 (GRCm39) |
Q95* |
probably null |
Homo |
| Zc3h7b |
A |
G |
15: 81,662,872 (GRCm39) |
E421G |
possibly damaging |
Homo |
| Zc3hc1 |
G |
T |
6: 30,387,525 (GRCm39) |
D51E |
probably benign |
Homo |
|
| 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 |
|
|
IGL03384:Panx2
|
APN |
15 |
88,952,322 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to C transition at position 1027 of the Panx2 transcript in exon 2 of 3 total exons. Two transcripts of the Panx2 gene are displayed at Ensembl. The mutated nucleotide causes a tyrosine to histidine substitution at amino acid 227 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Panx2 gene encodes a 677 amino acid structural component of gap junctions known as Pannexin-2. Pannexin-2 forms heteromeric channels with Pannexin-1 (Uniprot Q6IMP4).
The Y227H change is predicted to be possibly damaging by the PolyPhen program. |
| Posted On |
2010-05-06 |
Incidental Mutation