Incidental Mutation 'R7676:Plxdc2'
ID |
592440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxdc2
|
Ensembl Gene |
ENSMUSG00000026748 |
Gene Name |
plexin domain containing 2 |
Synonyms |
1200007L24Rik, Tem7r, 5430431D22Rik |
MMRRC Submission |
045647-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7676 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
16361115-16760650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 16716894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 377
(S377L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028081]
[ENSMUST00000114702]
[ENSMUST00000114703]
|
AlphaFold |
Q9DC11 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028081
AA Change: S377L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000028081 Gene: ENSMUSG00000026748 AA Change: S377L
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: S375L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000110350 Gene: ENSMUSG00000026748 AA Change: S375L
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: S326L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000110351 Gene: ENSMUSG00000026748 AA Change: S326L
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
Adam6a |
G |
A |
12: 113,508,196 (GRCm39) |
G190S |
probably benign |
Het |
Adnp |
G |
A |
2: 168,025,367 (GRCm39) |
R643* |
probably null |
Het |
Akap6 |
A |
G |
12: 52,933,633 (GRCm39) |
D375G |
possibly damaging |
Het |
Aldh1l2 |
G |
T |
10: 83,343,975 (GRCm39) |
A480E |
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,148,821 (GRCm39) |
Q779L |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,273,324 (GRCm39) |
L2484* |
probably null |
Het |
Dnajc21 |
T |
C |
15: 10,462,430 (GRCm39) |
Y65C |
possibly damaging |
Het |
Dnhd1 |
C |
A |
7: 105,333,294 (GRCm39) |
N255K |
probably benign |
Het |
Efhc1 |
G |
T |
1: 21,037,593 (GRCm39) |
G257W |
probably damaging |
Het |
Fars2 |
C |
A |
13: 36,389,026 (GRCm39) |
L172I |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,945,846 (GRCm39) |
Y1580H |
probably damaging |
Het |
Fli1 |
T |
A |
9: 32,339,326 (GRCm39) |
N253Y |
probably benign |
Het |
Foxd3 |
G |
T |
4: 99,545,151 (GRCm39) |
C97F |
probably damaging |
Het |
Gem |
C |
A |
4: 11,711,170 (GRCm39) |
D120E |
possibly damaging |
Het |
Ighv10-3 |
A |
G |
12: 114,487,299 (GRCm39) |
C41R |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,449,549 (GRCm39) |
D897G |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,217,553 (GRCm39) |
S16G |
probably benign |
Het |
Keg1 |
T |
G |
19: 12,693,409 (GRCm39) |
V154G |
probably benign |
Het |
Lrrc45 |
G |
A |
11: 120,611,148 (GRCm39) |
R602H |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,598,292 (GRCm39) |
D591G |
possibly damaging |
Het |
Mmp10 |
T |
A |
9: 7,503,550 (GRCm39) |
V140D |
probably damaging |
Het |
Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
Nckipsd |
T |
C |
9: 108,692,153 (GRCm39) |
F525L |
probably damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,347 (GRCm39) |
S233P |
probably damaging |
Het |
Or10j7 |
T |
A |
1: 173,011,120 (GRCm39) |
K294* |
probably null |
Het |
Or6c6c |
G |
T |
10: 129,541,155 (GRCm39) |
S136I |
possibly damaging |
Het |
P2ry12 |
T |
A |
3: 59,125,178 (GRCm39) |
M166L |
possibly damaging |
Het |
Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
Pdilt |
A |
T |
7: 119,094,220 (GRCm39) |
Y344N |
probably damaging |
Het |
Pip4k2b |
A |
T |
11: 97,611,188 (GRCm39) |
N309K |
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,912,708 (GRCm39) |
V166I |
|
Het |
Rc3h2 |
A |
T |
2: 37,295,344 (GRCm39) |
V224E |
possibly damaging |
Het |
Stk32c |
T |
A |
7: 138,685,220 (GRCm39) |
D428V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,644,951 (GRCm39) |
D12968G |
probably damaging |
Het |
Tulp2 |
G |
T |
7: 45,170,451 (GRCm39) |
V457F |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,839,908 (GRCm39) |
S1879T |
probably damaging |
Het |
Vmn1r51 |
T |
C |
6: 90,106,437 (GRCm39) |
Y118H |
probably benign |
Het |
Zfat |
A |
C |
15: 68,096,693 (GRCm39) |
V40G |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTAAACAGGTGAAGATGATTCCAAG -3'
(R):5'- ATAGGCAAACAATCTTGTGGGTAC -3'
Sequencing Primer
(F):5'- AAAAACATGTTTCATTCTCCCTCTC -3'
(R):5'- CCTTCTGTAGGCAGGCTG -3'
|
Posted On |
2019-11-12 |