Incidental Mutation 'R5238:Plxdc2'
| ID |
400472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxdc2
|
| Ensembl Gene |
ENSMUSG00000026748 |
| Gene Name |
plexin domain containing 2 |
| Synonyms |
1200007L24Rik, Tem7r, 5430431D22Rik |
| MMRRC Submission |
042809-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5238 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
16361115-16760650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16655026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 208
(F208L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028081]
[ENSMUST00000114702]
[ENSMUST00000114703]
|
| AlphaFold |
Q9DC11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028081
AA Change: F257L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: F257L
| 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 damaging
Transcript: ENSMUST00000114702
AA Change: F257L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: F257L
| 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 damaging
Transcript: ENSMUST00000114703
AA Change: F208L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: F208L
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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 |
|---|
| Abhd12b |
T |
A |
12: 70,210,142 (GRCm39) |
|
probably null |
Het |
| Adamtsl5 |
C |
T |
10: 80,181,192 (GRCm39) |
G63D |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,127,569 (GRCm39) |
M68K |
probably benign |
Het |
| Atad2 |
A |
C |
15: 57,971,733 (GRCm39) |
H381Q |
possibly damaging |
Het |
| Bclaf1 |
T |
G |
10: 20,208,130 (GRCm39) |
|
probably benign |
Het |
| Ccdc188 |
A |
G |
16: 18,037,038 (GRCm39) |
E238G |
probably damaging |
Het |
| Cldn19 |
G |
T |
4: 119,112,930 (GRCm39) |
C54F |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,640,379 (GRCm39) |
V512A |
probably damaging |
Het |
| Cyfip1 |
G |
T |
7: 55,541,779 (GRCm39) |
A355S |
probably benign |
Het |
| Dffa |
T |
G |
4: 149,188,760 (GRCm39) |
L18R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,009,891 (GRCm39) |
E3761K |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,210 (GRCm39) |
T59A |
possibly damaging |
Het |
| Eed |
T |
C |
7: 89,626,173 (GRCm39) |
S67G |
probably benign |
Het |
| Fam181a |
C |
T |
12: 103,282,392 (GRCm39) |
A99V |
probably benign |
Het |
| Gm12185 |
G |
A |
11: 48,799,044 (GRCm39) |
T483I |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,848,542 (GRCm39) |
C234* |
probably null |
Het |
| Kidins220 |
C |
A |
12: 25,053,009 (GRCm39) |
T433K |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,943,502 (GRCm39) |
Y186H |
probably damaging |
Het |
| Mcm9 |
G |
T |
10: 53,506,093 (GRCm39) |
S60R |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,784,773 (GRCm39) |
C144S |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,461 (GRCm39) |
C364R |
probably damaging |
Het |
| Nptx2 |
T |
C |
5: 144,493,041 (GRCm39) |
I376T |
probably damaging |
Het |
| Or2a14 |
T |
C |
6: 43,130,961 (GRCm39) |
S241P |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,604,834 (GRCm39) |
C2191S |
probably damaging |
Het |
| Robo3 |
A |
C |
9: 37,328,175 (GRCm39) |
Y1339D |
probably damaging |
Het |
| Rsph9 |
G |
T |
17: 46,446,008 (GRCm39) |
Y42* |
probably null |
Het |
| Slc39a1 |
T |
A |
3: 90,156,702 (GRCm39) |
L86Q |
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,904,214 (GRCm39) |
D392G |
probably damaging |
Het |
| Tiprl |
A |
G |
1: 165,043,337 (GRCm39) |
V263A |
probably benign |
Het |
| Tmub2 |
A |
G |
11: 102,175,820 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,918,702 (GRCm39) |
F681I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uba3 |
A |
T |
6: 97,178,896 (GRCm39) |
C68* |
probably null |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,799 (GRCm39) |
M137L |
probably benign |
Het |
| Vmn1r50 |
C |
T |
6: 90,084,465 (GRCm39) |
A70V |
possibly damaging |
Het |
| Wwc1 |
T |
C |
11: 35,766,723 (GRCm39) |
K511E |
probably benign |
Het |
| Zfp600 |
T |
C |
4: 146,131,741 (GRCm39) |
|
probably null |
Het |
| Zng1 |
G |
T |
19: 24,897,994 (GRCm39) |
T382K |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCTCTTCCAGAATTGAGG -3'
(R):5'- TAGGCATTACTTTCCTGAAACTCAG -3'
Sequencing Primer
(F):5'- GCTCTTCCAGAATTGAGGCATCTAG -3'
(R):5'- TCCTGAAACTCAGTATTAAACTCAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation