Incidental Mutation 'R5989:Panx2'
| ID |
481900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Panx2
|
| Ensembl Gene |
ENSMUSG00000058441 |
| Gene Name |
pannexin 2 |
| Synonyms |
|
| MMRRC Submission |
044169-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5989 (G1)
|
| Quality Score |
123.008 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88943937-88957770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88944455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 60
(L60P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161372]
[ENSMUST00000162424]
|
| AlphaFold |
Q6IMP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161372
AA Change: L60P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441
AA Change: L60P
| 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 |
probably damaging
Transcript: ENSMUST00000162424
AA Change: L60P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: L60P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Drgx |
A |
G |
14: 32,330,145 (GRCm39) |
N116S |
probably benign |
Het |
| Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,721 (GRCm39) |
R97G |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
| Ipcef1 |
A |
T |
10: 6,929,532 (GRCm39) |
Y69* |
probably null |
Het |
| Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,536,902 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
| Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
| Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
| Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
| Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
| Tmem200c |
G |
T |
17: 69,144,431 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,699 (GRCm39) |
P556L |
probably damaging |
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 |
|
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 |
|
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'- TTCTGCAAGTCATCGCCAAC -3'
(R):5'- CCCAAGGTCTGTGATGAGAC -3'
Sequencing Primer
(F):5'- GCATCCCCGCTGACATC -3'
(R):5'- TGAGACCTGCGGGCAATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation