Incidental Mutation 'IGL01700:Plxdc2'
| ID |
104452 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plxdc2
|
| Ensembl Gene |
ENSMUSG00000026748 |
| Gene Name |
plexin domain containing 2 |
| Synonyms |
1200007L24Rik, Tem7r, 5430431D22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01700
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
16361115-16760650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16516926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 69
(V69A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028081]
[ENSMUST00000114702]
[ENSMUST00000114703]
|
| AlphaFold |
Q9DC11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028081
AA Change: V69A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: V69A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
PSI
|
327 |
372 |
1.52e-3 |
SMART |
|
low complexity region
|
390 |
401 |
N/A |
INTRINSIC |
|
transmembrane domain
|
455 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114702
AA Change: V69A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: V69A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
PSI
|
327 |
372 |
1.52e-3 |
SMART |
|
low complexity region
|
388 |
399 |
N/A |
INTRINSIC |
|
transmembrane domain
|
453 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114703
AA Change: V69A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: V69A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
PSI
|
278 |
323 |
1.52e-3 |
SMART |
|
low complexity region
|
339 |
350 |
N/A |
INTRINSIC |
|
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,319,549 (GRCm39) |
M1778L |
probably benign |
Het |
| Aldh6a1 |
C |
T |
12: 84,486,312 (GRCm39) |
C202Y |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,582,198 (GRCm39) |
T276A |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,517,702 (GRCm39) |
I556T |
probably benign |
Het |
| Aqp4 |
A |
G |
18: 15,532,922 (GRCm39) |
I57T |
probably benign |
Het |
| Atp1a1 |
T |
C |
3: 101,501,574 (GRCm39) |
D43G |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,433,727 (GRCm39) |
R172H |
probably damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,716 (GRCm39) |
R125* |
probably null |
Het |
| Efcab9 |
T |
C |
11: 32,477,451 (GRCm39) |
R24G |
probably damaging |
Het |
| F7 |
C |
A |
8: 13,078,685 (GRCm39) |
Q39K |
probably benign |
Het |
| Galntl6 |
A |
T |
8: 58,411,494 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,233,925 (GRCm39) |
V130A |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,574 (GRCm39) |
I359T |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,102,238 (GRCm39) |
I843S |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,762 (GRCm39) |
M98K |
probably damaging |
Het |
| Nrip3 |
T |
A |
7: 109,361,074 (GRCm39) |
N200I |
possibly damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,810 (GRCm39) |
N40K |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,744,094 (GRCm39) |
Q581L |
probably benign |
Het |
| Pou3f1 |
G |
T |
4: 124,552,650 (GRCm39) |
W384L |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,369,643 (GRCm39) |
S1890L |
possibly damaging |
Het |
| Psmc1 |
C |
A |
12: 100,079,337 (GRCm39) |
P27H |
probably damaging |
Het |
| Pvr |
C |
A |
7: 19,643,157 (GRCm39) |
A359S |
probably benign |
Het |
| Rasal1 |
A |
T |
5: 120,814,882 (GRCm39) |
I711F |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,266,968 (GRCm39) |
A223V |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,479,904 (GRCm39) |
I638L |
unknown |
Het |
| Slfn10-ps |
C |
T |
11: 82,919,938 (GRCm39) |
|
noncoding transcript |
Het |
| Sptbn4 |
A |
G |
7: 27,103,693 (GRCm39) |
L1176P |
probably damaging |
Het |
| Usp21 |
A |
T |
1: 171,110,975 (GRCm39) |
F421I |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,800,573 (GRCm39) |
P416S |
probably damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,614,202 (GRCm39) |
R37S |
possibly damaging |
Het |
| Vps13a |
G |
A |
19: 16,722,221 (GRCm39) |
R364* |
probably null |
Het |
| Vps29 |
A |
G |
5: 122,500,930 (GRCm39) |
Y165C |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,742,195 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,044,802 (GRCm39) |
D219G |
probably damaging |
Het |
| Xpo1 |
T |
C |
11: 23,226,422 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
C |
A |
2: 174,486,711 (GRCm39) |
T462K |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,843,658 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Plxdc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Plxdc2
|
APN |
2 |
16,654,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02306:Plxdc2
|
APN |
2 |
16,665,585 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02555:Plxdc2
|
APN |
2 |
16,734,152 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02558:Plxdc2
|
APN |
2 |
16,674,409 (GRCm39) |
splice site |
probably benign |
|
|
IGL03031:Plxdc2
|
APN |
2 |
16,655,043 (GRCm39) |
splice site |
probably null |
|
|
IGL03114:Plxdc2
|
APN |
2 |
16,654,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Plxdc2
|
UTSW |
2 |
16,716,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1449:Plxdc2
|
UTSW |
2 |
16,665,592 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1840:Plxdc2
|
UTSW |
2 |
16,674,667 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2091:Plxdc2
|
UTSW |
2 |
16,718,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Plxdc2
|
UTSW |
2 |
16,516,902 (GRCm39) |
missense |
probably benign |
|
|
R2192:Plxdc2
|
UTSW |
2 |
16,570,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2287:Plxdc2
|
UTSW |
2 |
16,517,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2567:Plxdc2
|
UTSW |
2 |
16,716,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3964:Plxdc2
|
UTSW |
2 |
16,665,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4167:Plxdc2
|
UTSW |
2 |
16,570,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4496:Plxdc2
|
UTSW |
2 |
16,517,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Plxdc2
|
UTSW |
2 |
16,708,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4891:Plxdc2
|
UTSW |
2 |
16,716,957 (GRCm39) |
missense |
probably benign |
|
|
R5238:Plxdc2
|
UTSW |
2 |
16,655,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Plxdc2
|
UTSW |
2 |
16,654,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Plxdc2
|
UTSW |
2 |
16,665,666 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6675:Plxdc2
|
UTSW |
2 |
16,716,932 (GRCm39) |
missense |
probably benign |
|
|
R6751:Plxdc2
|
UTSW |
2 |
16,552,952 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7676:Plxdc2
|
UTSW |
2 |
16,716,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7757:Plxdc2
|
UTSW |
2 |
16,734,187 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7813:Plxdc2
|
UTSW |
2 |
16,665,678 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7919:Plxdc2
|
UTSW |
2 |
16,553,036 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9783:Plxdc2
|
UTSW |
2 |
16,674,349 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Plxdc2
|
UTSW |
2 |
16,570,214 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2014-01-21 |
Incidental Mutation