Incidental Mutation 'R2912:Panx2'
ID |
261321 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Panx2
|
Ensembl Gene |
ENSMUSG00000058441 |
Gene Name |
pannexin 2 |
Synonyms |
|
MMRRC Submission |
040499-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2912 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
88943937-88957770 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88954024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 660
(I660V)
|
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 |
unknown
Transcript: ENSMUST00000159960
AA Change: I50V
|
Predicted Effect |
silent
Transcript: ENSMUST00000161372
|
SMART Domains |
Protein: ENSMUSP00000125514 Gene: ENSMUSG00000058441
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 benign
Transcript: ENSMUST00000162424
AA Change: I660V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000124354 Gene: ENSMUSG00000058441 AA Change: I660V
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aloxe3 |
A |
T |
11: 69,020,866 (GRCm39) |
K197M |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,524,517 (GRCm39) |
K182E |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,999,201 (GRCm39) |
D4643G |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,586,139 (GRCm39) |
D41G |
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
T |
C |
2: 91,817,398 (GRCm39) |
T372A |
possibly damaging |
Het |
Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,072,109 (GRCm39) |
E251G |
probably damaging |
Het |
Dnajc27 |
C |
T |
12: 4,146,280 (GRCm39) |
S103L |
probably damaging |
Het |
Dync1li1 |
T |
G |
9: 114,544,743 (GRCm39) |
N348K |
probably benign |
Het |
Emc1 |
T |
C |
4: 139,092,571 (GRCm39) |
S504P |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,021,488 (GRCm39) |
D1321G |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,895,425 (GRCm39) |
N406S |
probably benign |
Het |
Gpr157 |
G |
A |
4: 150,183,222 (GRCm39) |
V131I |
probably benign |
Het |
Hprt1 |
T |
C |
X: 52,109,016 (GRCm39) |
Y174H |
probably damaging |
Het |
Kcnq2 |
A |
G |
2: 180,723,567 (GRCm39) |
V603A |
probably damaging |
Het |
Lama2 |
T |
C |
10: 26,876,799 (GRCm39) |
S2716G |
probably benign |
Het |
Lax1 |
A |
G |
1: 133,611,791 (GRCm39) |
V48A |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Med17 |
A |
G |
9: 15,187,210 (GRCm39) |
L188P |
probably damaging |
Het |
Mfsd5 |
A |
G |
15: 102,189,743 (GRCm39) |
T372A |
probably benign |
Het |
Mrgprb5 |
T |
C |
7: 47,817,815 (GRCm39) |
S307G |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,871,572 (GRCm39) |
Y637C |
probably damaging |
Het |
Nherf2 |
C |
T |
17: 24,861,215 (GRCm39) |
G71S |
probably damaging |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
A |
G |
8: 32,308,595 (GRCm39) |
S474P |
probably damaging |
Het |
Nup210 |
T |
G |
6: 91,003,956 (GRCm39) |
D644A |
probably damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,898 (GRCm39) |
I47T |
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,458 (GRCm39) |
N170Y |
probably benign |
Het |
Or5j3 |
A |
G |
2: 86,128,733 (GRCm39) |
D191G |
probably damaging |
Het |
Or8g34 |
T |
C |
9: 39,373,512 (GRCm39) |
Y259H |
probably damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,304 (GRCm39) |
E421G |
probably damaging |
Het |
Prx |
C |
T |
7: 27,215,654 (GRCm39) |
P52S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,106,177 (GRCm39) |
S206P |
probably damaging |
Het |
Rbm45 |
C |
T |
2: 76,205,798 (GRCm39) |
P217S |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,594,226 (GRCm39) |
D382G |
probably damaging |
Het |
Ric3 |
A |
G |
7: 108,653,660 (GRCm39) |
F144L |
possibly damaging |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,221,551 (GRCm39) |
S2763P |
probably damaging |
Het |
Vmn1r42 |
T |
C |
6: 89,821,688 (GRCm39) |
M294V |
probably benign |
Het |
Zfp467 |
C |
A |
6: 48,416,010 (GRCm39) |
R214L |
possibly damaging |
Het |
Zfp750 |
C |
A |
11: 121,403,153 (GRCm39) |
A532S |
probably benign |
Het |
Zscan4d |
G |
A |
7: 10,896,614 (GRCm39) |
P252L |
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 |
|
IGL03384:Panx2
|
APN |
15 |
88,952,322 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGATCATTCCATGTCTGCTCAC -3'
(R):5'- CACTTGTGGATGCCATGGTG -3'
Sequencing Primer
(F):5'- GCCGCTGCTTCCCTGTC -3'
(R):5'- CGTGGCATGCAGACAGG -3'
|
Posted On |
2015-01-23 |