Incidental Mutation 'R4593:Panx2'
| ID |
344235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Panx2
|
| Ensembl Gene |
ENSMUSG00000058441 |
| Gene Name |
pannexin 2 |
| Synonyms |
|
| MMRRC Submission |
041809-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4593 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88943937-88957770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88952118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 195
(I195T)
|
| 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: I203T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441
AA Change: I203T
| 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: I195T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: I195T
| 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 |
0.3477 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (45/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Atm |
G |
T |
9: 53,364,894 (GRCm39) |
A8E |
possibly damaging |
Het |
| Atxn3 |
A |
T |
12: 101,889,436 (GRCm39) |
M333K |
probably benign |
Het |
| Cd86 |
A |
G |
16: 36,426,918 (GRCm39) |
*310R |
probably null |
Het |
| Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
| Dgat1 |
C |
A |
15: 76,388,889 (GRCm39) |
R111S |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,673,449 (GRCm39) |
M1V |
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,364,653 (GRCm39) |
D4240N |
probably benign |
Het |
| Emp3 |
A |
G |
7: 45,568,777 (GRCm39) |
L27P |
probably damaging |
Het |
| Glra3 |
G |
T |
8: 56,393,916 (GRCm39) |
G9V |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,510,151 (GRCm39) |
|
probably benign |
Het |
| Ighv1-9 |
T |
C |
12: 114,547,224 (GRCm39) |
T105A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,355,996 (GRCm39) |
D129G |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,389,795 (GRCm39) |
Y1877H |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,880,625 (GRCm39) |
L1239P |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,768,191 (GRCm39) |
L480S |
possibly damaging |
Het |
| Mkrn3 |
C |
T |
7: 62,068,552 (GRCm39) |
W413* |
probably null |
Het |
| Myo7b |
A |
G |
18: 32,146,428 (GRCm39) |
V119A |
possibly damaging |
Het |
| Nexn |
T |
A |
3: 151,958,553 (GRCm39) |
R113S |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,115,280 (GRCm39) |
Q703L |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,647,323 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
G |
5: 24,914,119 (GRCm39) |
Y624C |
probably damaging |
Het |
| Obscn |
A |
C |
11: 59,024,075 (GRCm39) |
S532A |
probably damaging |
Het |
| Or1e33 |
T |
A |
11: 73,738,140 (GRCm39) |
K270N |
probably benign |
Het |
| Or9g20 |
A |
G |
2: 85,630,008 (GRCm39) |
L202P |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,451,262 (GRCm39) |
I104T |
probably benign |
Het |
| Pkd1l1 |
G |
T |
11: 8,851,253 (GRCm39) |
D726E |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,168,623 (GRCm39) |
R965W |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,525,101 (GRCm39) |
K502E |
probably damaging |
Het |
| Rasa1 |
T |
C |
13: 85,386,340 (GRCm39) |
|
probably null |
Het |
| Sva |
T |
C |
6: 42,019,592 (GRCm39) |
S151P |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,944 (GRCm39) |
N1564D |
possibly damaging |
Het |
| Unk |
T |
C |
11: 115,939,882 (GRCm39) |
I129T |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,584,332 (GRCm39) |
D550G |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,461 (GRCm39) |
M26K |
possibly damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,686 (GRCm39) |
F25I |
possibly damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,911,769 (GRCm39) |
K42E |
probably damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,327,953 (GRCm39) |
R280G |
possibly 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 |
|
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'- TTGAGCACAAGTTCCTGCCC -3'
(R):5'- GAACTCGTTCTGCTTCTGGG -3'
Sequencing Primer
(F):5'- ATCATGTATGTGCCCGCG -3'
(R):5'- GTGGCGTAGTATGTGCATAGGTAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation