Incidental Mutation 'R9451:Plxnd1'
ID |
714251 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnd1
|
Ensembl Gene |
ENSMUSG00000030123 |
Gene Name |
plexin D1 |
Synonyms |
6230425C21Rik, b2b1863Clo, b2b553Clo |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9451 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
115931772-115971966 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115940277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1369
(E1369G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015511]
|
AlphaFold |
Q3UH93 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015511
AA Change: E1369G
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000015511 Gene: ENSMUSG00000030123 AA Change: E1369G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131590
|
SMART Domains |
Protein: ENSMUSP00000115650 Gene: ENSMUSG00000030123
Domain | Start | End | E-Value | Type |
Blast:PSI
|
2 |
34 |
1e-13 |
BLAST |
IPT
|
35 |
124 |
4.43e-20 |
SMART |
Blast:IPT
|
125 |
177 |
3e-30 |
BLAST |
Pfam:TIG
|
180 |
233 |
4.6e-6 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (73/73) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh8a1 |
T |
A |
10: 21,265,032 (GRCm39) |
S220T |
probably benign |
Het |
Ankrd66 |
A |
G |
17: 43,845,811 (GRCm39) |
V192A |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,965,774 (GRCm39) |
Y594C |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,103,494 (GRCm39) |
Y1009H |
probably benign |
Het |
Bptf |
A |
C |
11: 106,935,411 (GRCm39) |
M142R |
probably damaging |
Het |
Brwd1 |
C |
T |
16: 95,845,703 (GRCm39) |
R740Q |
probably damaging |
Het |
C3 |
A |
G |
17: 57,531,169 (GRCm39) |
M339T |
probably benign |
Het |
Catsperg1 |
A |
G |
7: 28,897,772 (GRCm39) |
|
probably null |
Het |
Cep295nl |
T |
A |
11: 118,224,446 (GRCm39) |
K133* |
probably null |
Het |
Copg2 |
A |
T |
6: 30,793,786 (GRCm39) |
|
probably benign |
Het |
Coro7 |
A |
T |
16: 4,488,402 (GRCm39) |
D89E |
probably damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Ddx54 |
G |
T |
5: 120,765,209 (GRCm39) |
R826L |
probably damaging |
Het |
Dlg4 |
G |
T |
11: 69,922,065 (GRCm39) |
K162N |
probably damaging |
Het |
Dna2 |
T |
A |
10: 62,790,072 (GRCm39) |
L185H |
probably benign |
Het |
Dock9 |
C |
T |
14: 121,787,601 (GRCm39) |
|
probably benign |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Etl4 |
A |
G |
2: 20,813,926 (GRCm39) |
I1322V |
probably benign |
Het |
Exd1 |
T |
C |
2: 119,355,064 (GRCm39) |
K284E |
possibly damaging |
Het |
Flnc |
A |
G |
6: 29,445,462 (GRCm39) |
T786A |
probably damaging |
Het |
Gm29106 |
A |
C |
1: 118,127,644 (GRCm39) |
E445D |
possibly damaging |
Het |
Gm5592 |
T |
C |
7: 40,935,876 (GRCm39) |
L126P |
probably damaging |
Het |
Grep1 |
A |
G |
17: 23,936,187 (GRCm39) |
Y19H |
unknown |
Het |
Gtf3c2 |
T |
G |
5: 31,325,773 (GRCm39) |
T389P |
probably damaging |
Het |
Hhipl1 |
C |
A |
12: 108,294,100 (GRCm39) |
R669S |
probably benign |
Het |
Hivep1 |
A |
G |
13: 42,337,252 (GRCm39) |
T2444A |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,238,380 (GRCm39) |
E289G |
probably damaging |
Het |
Htatip2 |
C |
A |
7: 49,408,987 (GRCm39) |
T9K |
unknown |
Het |
Ifngr1 |
T |
C |
10: 19,483,041 (GRCm39) |
V265A |
possibly damaging |
Het |
Ift140 |
A |
G |
17: 25,252,925 (GRCm39) |
N359D |
probably benign |
Het |
Mat1a |
A |
G |
14: 40,836,803 (GRCm39) |
R178G |
probably damaging |
Het |
Mknk2 |
C |
T |
10: 80,505,496 (GRCm39) |
R154H |
probably benign |
Het |
Myh14 |
C |
T |
7: 44,273,743 (GRCm39) |
|
probably null |
Het |
Myof |
A |
G |
19: 37,966,096 (GRCm39) |
|
probably null |
Het |
Nfe2l1 |
G |
T |
11: 96,718,453 (GRCm39) |
D27E |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
Or4a15 |
A |
T |
2: 89,193,243 (GRCm39) |
C177S |
probably damaging |
Het |
Or4k51 |
T |
C |
2: 111,585,218 (GRCm39) |
V208A |
probably benign |
Het |
Or5p61 |
A |
G |
7: 107,758,468 (GRCm39) |
V204A |
probably benign |
Het |
Or8s5 |
A |
G |
15: 98,238,144 (GRCm39) |
V242A |
possibly damaging |
Het |
Plec |
C |
A |
15: 76,067,987 (GRCm39) |
Q1139H |
unknown |
Het |
Plxna2 |
T |
A |
1: 194,326,692 (GRCm39) |
S209T |
probably benign |
Het |
Psd3 |
T |
C |
8: 68,363,487 (GRCm39) |
I3V |
unknown |
Het |
Pwp1 |
T |
A |
10: 85,714,428 (GRCm39) |
F195L |
probably damaging |
Het |
Rab3ip |
C |
T |
10: 116,775,354 (GRCm39) |
M1I |
probably null |
Het |
Rad54l2 |
T |
C |
9: 106,585,488 (GRCm39) |
K759R |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,300,724 (GRCm39) |
V344L |
probably damaging |
Het |
Robo1 |
G |
A |
16: 72,803,718 (GRCm39) |
R1088Q |
probably benign |
Het |
Rtf2 |
A |
G |
2: 172,282,745 (GRCm39) |
|
probably benign |
Het |
Serhl |
A |
C |
15: 82,987,167 (GRCm39) |
K131N |
possibly damaging |
Het |
Sidt1 |
T |
A |
16: 44,075,392 (GRCm39) |
|
probably null |
Het |
Slc27a1 |
T |
A |
8: 72,032,808 (GRCm39) |
Y248* |
probably null |
Het |
Slitrk3 |
T |
A |
3: 72,958,616 (GRCm39) |
E52V |
possibly damaging |
Het |
Snx2 |
T |
C |
18: 53,343,415 (GRCm39) |
V271A |
probably benign |
Het |
Snx9 |
C |
A |
17: 5,949,768 (GRCm39) |
P156Q |
probably damaging |
Het |
Spag6 |
C |
A |
2: 18,715,369 (GRCm39) |
Y71* |
probably null |
Het |
Speer4a3 |
T |
A |
5: 26,156,569 (GRCm39) |
K137* |
probably null |
Het |
Speg |
A |
G |
1: 75,394,377 (GRCm39) |
D1724G |
probably damaging |
Het |
Syt7 |
A |
G |
19: 10,421,532 (GRCm39) |
N572S |
probably damaging |
Het |
Thoc2l |
C |
A |
5: 104,668,644 (GRCm39) |
S1055R |
probably benign |
Het |
Ticam2 |
A |
G |
18: 46,693,766 (GRCm39) |
I107T |
probably damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tmem268 |
G |
A |
4: 63,488,256 (GRCm39) |
V135M |
probably benign |
Het |
Toporsl |
A |
G |
4: 52,611,663 (GRCm39) |
T519A |
possibly damaging |
Het |
Trim43b |
G |
A |
9: 88,973,608 (GRCm39) |
L42F |
possibly damaging |
Het |
Ttf2 |
A |
C |
3: 100,852,089 (GRCm39) |
V1019G |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,292,158 (GRCm39) |
D97G |
probably benign |
Het |
Uncx |
A |
G |
5: 139,532,475 (GRCm39) |
N180S |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,710,352 (GRCm39) |
T552A |
probably damaging |
Het |
Vmn2r51 |
A |
T |
7: 9,833,816 (GRCm39) |
H407Q |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,855,518 (GRCm39) |
E699K |
|
Het |
Wdr95 |
A |
G |
5: 149,504,165 (GRCm39) |
T324A |
probably benign |
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 |
R4599:Plxnd1
|
UTSW |
6 |
115,971,237 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AACGGCTGAGTGAATGCCTC -3'
(R):5'- GCTTTTCTCAACCTCAGAACAC -3'
Sequencing Primer
(F):5'- CTGAGTGAATGCCTCCTAGAAG -3'
(R):5'- GAACACAGCAGCTTGCCTG -3'
|
Posted On |
2022-06-15 |