Incidental Mutation 'IGL02555:Plxdc2'
ID |
298465 |
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 # |
IGL02555
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
16361115-16760650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16734152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 417
(I417M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028081]
[ENSMUST00000114702]
[ENSMUST00000114703]
|
AlphaFold |
Q9DC11 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028081
AA Change: I468M
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000028081 Gene: ENSMUSG00000026748 AA Change: I468M
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: I466M
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000110350 Gene: ENSMUSG00000026748 AA Change: I466M
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: I417M
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000110351 Gene: ENSMUSG00000026748 AA Change: I417M
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126173
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
G |
A |
1: 36,740,828 (GRCm39) |
R199C |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,078,305 (GRCm39) |
C640S |
probably damaging |
Het |
Adam9 |
T |
C |
8: 25,456,752 (GRCm39) |
N661D |
probably damaging |
Het |
Amy1 |
C |
T |
3: 113,358,541 (GRCm39) |
E164K |
probably benign |
Het |
Arid5b |
A |
C |
10: 67,937,734 (GRCm39) |
D221E |
probably benign |
Het |
B3galt1 |
G |
T |
2: 67,948,905 (GRCm39) |
V207F |
probably benign |
Het |
Begain |
A |
G |
12: 109,000,115 (GRCm39) |
S219P |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,759,857 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
G |
1: 67,253,180 (GRCm39) |
K1224R |
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,218,050 (GRCm39) |
Y449H |
probably damaging |
Het |
Epas1 |
A |
T |
17: 87,136,492 (GRCm39) |
M755L |
probably benign |
Het |
F13b |
T |
C |
1: 139,444,924 (GRCm39) |
C525R |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 53,016,863 (GRCm39) |
|
probably null |
Het |
Ighv5-15 |
A |
G |
12: 113,790,735 (GRCm39) |
F3L |
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,419,049 (GRCm39) |
Q538R |
possibly damaging |
Het |
Insrr |
A |
T |
3: 87,721,124 (GRCm39) |
M1092L |
probably damaging |
Het |
Itgb8 |
C |
T |
12: 119,153,616 (GRCm39) |
V300M |
probably damaging |
Het |
Kcnk5 |
A |
T |
14: 20,192,053 (GRCm39) |
H369Q |
probably benign |
Het |
Ly6m |
G |
T |
15: 74,753,457 (GRCm39) |
|
probably benign |
Het |
Or1m1 |
T |
A |
9: 18,666,769 (GRCm39) |
H54L |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,460,547 (GRCm39) |
R232C |
probably damaging |
Het |
Or4k44 |
A |
G |
2: 111,368,262 (GRCm39) |
V124A |
probably damaging |
Het |
Or5m10 |
G |
A |
2: 85,717,742 (GRCm39) |
M199I |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,897,441 (GRCm39) |
E186K |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,581,021 (GRCm39) |
F134L |
probably damaging |
Het |
Prox2 |
C |
T |
12: 85,142,034 (GRCm39) |
W56* |
probably null |
Het |
Scaf4 |
C |
T |
16: 90,047,193 (GRCm39) |
A395T |
unknown |
Het |
Sh3tc2 |
G |
T |
18: 62,123,308 (GRCm39) |
A690S |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 55,548,981 (GRCm39) |
S144P |
possibly damaging |
Het |
Slc6a6 |
C |
T |
6: 91,725,311 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
A |
T |
8: 12,689,595 (GRCm39) |
M557K |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,031,873 (GRCm39) |
D549V |
probably damaging |
Het |
Washc2 |
T |
A |
6: 116,186,061 (GRCm39) |
N90K |
probably damaging |
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 |
IGL01700:Plxdc2
|
APN |
2 |
16,516,926 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02306:Plxdc2
|
APN |
2 |
16,665,585 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
2015-04-16 |