Incidental Mutation 'R4599:Plxnd1'
| ID |
345434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnd1
|
| Ensembl Gene |
ENSMUSG00000030123 |
| Gene Name |
plexin D1 |
| Synonyms |
6230425C21Rik, b2b1863Clo, b2b553Clo |
| MMRRC Submission |
041815-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4599 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
115931772-115971966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115971237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 177
(V177E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015511]
|
| AlphaFold |
Q3UH93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015511
AA Change: V177E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: V177E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
48 |
N/A |
INTRINSIC |
|
Sema
|
61 |
531 |
6.52e-90 |
SMART |
|
PSI
|
550 |
603 |
6.06e-12 |
SMART |
|
PSI
|
703 |
755 |
1.06e-2 |
SMART |
|
Blast:PSI
|
850 |
891 |
9e-20 |
BLAST |
|
IPT
|
892 |
981 |
4.43e-20 |
SMART |
|
IPT
|
982 |
1068 |
6.61e-19 |
SMART |
|
IPT
|
1070 |
1149 |
6.13e-14 |
SMART |
|
transmembrane domain
|
1271 |
1293 |
N/A |
INTRINSIC |
|
Pfam:Plexin_cytopl
|
1345 |
1888 |
5e-238 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract abnormalities, and reduced vascular smooth muscle around some vessels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
| Ankrd13b |
T |
C |
11: 77,362,494 (GRCm39) |
R677G |
probably benign |
Het |
| Apc |
T |
A |
18: 34,451,040 (GRCm39) |
Y2611* |
probably null |
Het |
| Apold1 |
A |
G |
6: 134,961,032 (GRCm39) |
Y162C |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,055,737 (GRCm39) |
I325V |
probably benign |
Het |
| Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,325 (GRCm39) |
H239L |
probably damaging |
Het |
| Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,427,574 (GRCm39) |
H250R |
possibly damaging |
Het |
| Clock |
T |
C |
5: 76,383,657 (GRCm39) |
M499V |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,475,253 (GRCm39) |
E1002G |
probably benign |
Het |
| Clta |
C |
T |
4: 44,012,819 (GRCm39) |
P10S |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 127,881,921 (GRCm39) |
R20L |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
| Dapk1 |
C |
T |
13: 60,865,861 (GRCm39) |
P153S |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
| Dpp6 |
G |
T |
5: 27,839,546 (GRCm39) |
G354C |
probably damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,881,856 (GRCm39) |
L105P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
| Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
| Galnt4 |
T |
A |
10: 98,945,355 (GRCm39) |
V360E |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,419,833 (GRCm39) |
C24* |
probably null |
Het |
| Gcnt2 |
G |
T |
13: 41,040,966 (GRCm39) |
V42L |
probably benign |
Het |
| Herc6 |
A |
G |
6: 57,636,698 (GRCm39) |
I805V |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,108,232 (GRCm39) |
R150L |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,358,024 (GRCm39) |
Y45C |
unknown |
Het |
| Krt35 |
T |
C |
11: 99,984,834 (GRCm39) |
T275A |
probably damaging |
Het |
| Laptm5 |
G |
T |
4: 130,643,316 (GRCm39) |
|
probably benign |
Het |
| Lin7a |
T |
C |
10: 107,248,027 (GRCm39) |
S111P |
unknown |
Het |
| Med27 |
A |
G |
2: 29,414,470 (GRCm39) |
D159G |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
| Myo1a |
A |
T |
10: 127,556,020 (GRCm39) |
|
probably null |
Het |
| Myo1c |
T |
C |
11: 75,559,019 (GRCm39) |
F604L |
probably damaging |
Het |
| Myrip |
A |
G |
9: 120,293,850 (GRCm39) |
K782E |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,505,282 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,280 (GRCm39) |
I292V |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,525,422 (GRCm39) |
H187R |
probably damaging |
Het |
| Pcdhgb1 |
A |
T |
18: 37,814,610 (GRCm39) |
N367I |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,854,310 (GRCm39) |
I77V |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,881,895 (GRCm39) |
E930G |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,943,817 (GRCm39) |
R662Q |
probably benign |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,976,961 (GRCm39) |
S558G |
possibly damaging |
Het |
| Pspc1 |
A |
C |
14: 57,015,246 (GRCm39) |
|
probably null |
Het |
| Rilp |
T |
C |
11: 75,403,586 (GRCm39) |
S343P |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,265,107 (GRCm39) |
M194V |
probably damaging |
Het |
| Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
| Rundc1 |
A |
G |
11: 101,324,752 (GRCm39) |
N486S |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,496,151 (GRCm39) |
I65N |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,857,601 (GRCm39) |
E230G |
probably benign |
Het |
| Spint1 |
T |
C |
2: 119,076,941 (GRCm39) |
S342P |
probably damaging |
Het |
| Stard3nl |
A |
G |
13: 19,551,923 (GRCm39) |
S214P |
probably damaging |
Het |
| Tcp10a |
A |
C |
17: 7,604,323 (GRCm39) |
T271P |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,329,831 (GRCm39) |
Y1091H |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,511,125 (GRCm39) |
Y375C |
probably benign |
Het |
| Tmem107 |
T |
A |
11: 68,962,274 (GRCm39) |
M77K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,481,747 (GRCm39) |
K202E |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,670,347 (GRCm39) |
P1634L |
probably damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,844 (GRCm39) |
N4402S |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,322 (GRCm39) |
I703N |
probably damaging |
Het |
| Xrcc4 |
A |
G |
13: 90,210,126 (GRCm39) |
|
probably null |
Het |
| Zp3 |
A |
T |
5: 136,013,089 (GRCm39) |
K168* |
probably null |
Het |
|
| Other mutations in Plxnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00764:Plxnd1
|
APN |
6 |
115,944,933 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01099:Plxnd1
|
APN |
6 |
115,946,906 (GRCm39) |
missense |
probably benign |
|
|
IGL01323:Plxnd1
|
APN |
6 |
115,943,760 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01382:Plxnd1
|
APN |
6 |
115,937,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01786:Plxnd1
|
APN |
6 |
115,936,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Plxnd1
|
APN |
6 |
115,955,218 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02272:Plxnd1
|
APN |
6 |
115,970,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02293:Plxnd1
|
APN |
6 |
115,940,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02465:Plxnd1
|
APN |
6 |
115,932,703 (GRCm39) |
makesense |
probably null |
|
|
IGL02873:Plxnd1
|
APN |
6 |
115,936,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Plxnd1
|
APN |
6 |
115,939,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hiss
|
UTSW |
6 |
115,946,890 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
murmer
|
UTSW |
6 |
115,945,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
mutter
|
UTSW |
6 |
115,945,005 (GRCm39) |
missense |
probably benign |
0.27 |
|
rattle
|
UTSW |
6 |
115,936,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0238:Plxnd1
|
UTSW |
6 |
115,945,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Plxnd1
|
UTSW |
6 |
115,945,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Plxnd1
|
UTSW |
6 |
115,945,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Plxnd1
|
UTSW |
6 |
115,945,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0357:Plxnd1
|
UTSW |
6 |
115,946,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0646:Plxnd1
|
UTSW |
6 |
115,935,660 (GRCm39) |
splice site |
probably benign |
|
|
R0648:Plxnd1
|
UTSW |
6 |
115,970,962 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0718:Plxnd1
|
UTSW |
6 |
115,943,599 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1116:Plxnd1
|
UTSW |
6 |
115,943,966 (GRCm39) |
splice site |
probably null |
|
|
R1292:Plxnd1
|
UTSW |
6 |
115,939,644 (GRCm39) |
unclassified |
probably benign |
|
|
R1715:Plxnd1
|
UTSW |
6 |
115,945,642 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1760:Plxnd1
|
UTSW |
6 |
115,944,740 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1799:Plxnd1
|
UTSW |
6 |
115,971,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Plxnd1
|
UTSW |
6 |
115,957,562 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1848:Plxnd1
|
UTSW |
6 |
115,943,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Plxnd1
|
UTSW |
6 |
115,940,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Plxnd1
|
UTSW |
6 |
115,946,402 (GRCm39) |
splice site |
probably null |
|
|
R1865:Plxnd1
|
UTSW |
6 |
115,946,402 (GRCm39) |
splice site |
probably null |
|
|
R1875:Plxnd1
|
UTSW |
6 |
115,955,045 (GRCm39) |
splice site |
probably null |
|
|
R1899:Plxnd1
|
UTSW |
6 |
115,946,324 (GRCm39) |
missense |
probably benign |
|
|
R1913:Plxnd1
|
UTSW |
6 |
115,954,978 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1970:Plxnd1
|
UTSW |
6 |
115,939,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Plxnd1
|
UTSW |
6 |
115,944,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Plxnd1
|
UTSW |
6 |
115,934,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Plxnd1
|
UTSW |
6 |
115,939,725 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2230:Plxnd1
|
UTSW |
6 |
115,941,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Plxnd1
|
UTSW |
6 |
115,939,704 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2427:Plxnd1
|
UTSW |
6 |
115,944,709 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4108:Plxnd1
|
UTSW |
6 |
115,936,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Plxnd1
|
UTSW |
6 |
115,942,914 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4280:Plxnd1
|
UTSW |
6 |
115,933,056 (GRCm39) |
splice site |
probably null |
|
|
R4280:Plxnd1
|
UTSW |
6 |
115,933,055 (GRCm39) |
splice site |
probably benign |
|
|
R4346:Plxnd1
|
UTSW |
6 |
115,954,941 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4439:Plxnd1
|
UTSW |
6 |
115,970,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4572:Plxnd1
|
UTSW |
6 |
115,932,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Plxnd1
|
UTSW |
6 |
115,945,005 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4614:Plxnd1
|
UTSW |
6 |
115,949,486 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4700:Plxnd1
|
UTSW |
6 |
115,935,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Plxnd1
|
UTSW |
6 |
115,935,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Plxnd1
|
UTSW |
6 |
115,937,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4944:Plxnd1
|
UTSW |
6 |
115,932,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Plxnd1
|
UTSW |
6 |
115,971,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Plxnd1
|
UTSW |
6 |
115,942,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5155:Plxnd1
|
UTSW |
6 |
115,935,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5460:Plxnd1
|
UTSW |
6 |
115,934,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Plxnd1
|
UTSW |
6 |
115,942,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Plxnd1
|
UTSW |
6 |
115,945,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5992:Plxnd1
|
UTSW |
6 |
115,944,748 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6129:Plxnd1
|
UTSW |
6 |
115,955,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Plxnd1
|
UTSW |
6 |
115,954,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6273:Plxnd1
|
UTSW |
6 |
115,955,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Plxnd1
|
UTSW |
6 |
115,953,697 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6732:Plxnd1
|
UTSW |
6 |
115,946,890 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6857:Plxnd1
|
UTSW |
6 |
115,970,724 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7243:Plxnd1
|
UTSW |
6 |
115,949,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Plxnd1
|
UTSW |
6 |
115,937,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Plxnd1
|
UTSW |
6 |
115,953,600 (GRCm39) |
missense |
probably benign |
|
|
R7699:Plxnd1
|
UTSW |
6 |
115,936,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7915:Plxnd1
|
UTSW |
6 |
115,943,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8090:Plxnd1
|
UTSW |
6 |
115,933,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8382:Plxnd1
|
UTSW |
6 |
115,949,433 (GRCm39) |
missense |
probably benign |
|
|
R8507:Plxnd1
|
UTSW |
6 |
115,943,866 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8539:Plxnd1
|
UTSW |
6 |
115,939,768 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8548:Plxnd1
|
UTSW |
6 |
115,934,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Plxnd1
|
UTSW |
6 |
115,949,506 (GRCm39) |
nonsense |
probably null |
|
|
R9119:Plxnd1
|
UTSW |
6 |
115,932,832 (GRCm39) |
splice site |
probably benign |
|
|
R9177:Plxnd1
|
UTSW |
6 |
115,943,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9182:Plxnd1
|
UTSW |
6 |
115,970,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9185:Plxnd1
|
UTSW |
6 |
115,934,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9226:Plxnd1
|
UTSW |
6 |
115,934,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Plxnd1
|
UTSW |
6 |
115,945,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9449:Plxnd1
|
UTSW |
6 |
115,932,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Plxnd1
|
UTSW |
6 |
115,940,277 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9599:Plxnd1
|
UTSW |
6 |
115,940,274 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9627:Plxnd1
|
UTSW |
6 |
115,940,274 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9644:Plxnd1
|
UTSW |
6 |
115,940,274 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9672:Plxnd1
|
UTSW |
6 |
115,940,274 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
X0024:Plxnd1
|
UTSW |
6 |
115,940,271 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0026:Plxnd1
|
UTSW |
6 |
115,943,745 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1088:Plxnd1
|
UTSW |
6 |
115,944,471 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCGGTGGTCTTCTAGGCTAC -3'
(R):5'- CTGTCGAGTGCCAACTTGAG -3'
Sequencing Primer
(F):5'- CTTCTAGGCTACGGTTGCGC -3'
(R):5'- TGCCAACTTGAGCCTGGAAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation