Incidental Mutation 'R0239:Plxnd1'
ID |
37196 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnd1
|
Ensembl Gene |
ENSMUSG00000030123 |
Gene Name |
plexin D1 |
Synonyms |
b2b553Clo, 6230425C21Rik, b2b1863Clo |
MMRRC Submission |
038477-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0239 (G1)
|
Quality Score |
218 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115954811-115995005 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 115968793 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 906
(D906E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015511]
|
AlphaFold |
Q3UH93 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015511
AA Change: D906E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000015511 Gene: ENSMUSG00000030123 AA Change: D906E
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 |
|
SMART Domains |
Protein: ENSMUSP00000115650 Gene: ENSMUSG00000030123 AA Change: D48E
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 |
|
Meta Mutation Damage Score |
0.0964  |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
Validation Efficiency |
100% (3/3) |
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 |
1110002E22Rik |
TTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCC |
3: 138,065,834 (GRCm38) |
|
probably benign |
Het |
Adra1d |
C |
A |
2: 131,546,214 (GRCm38) |
V474F |
probably benign |
Het |
Alg8 |
A |
T |
7: 97,383,684 (GRCm38) |
|
probably null |
Het |
Ash1l |
A |
G |
3: 89,067,222 (GRCm38) |
D2618G |
possibly damaging |
Het |
Atp6v1c2 |
C |
A |
12: 17,294,675 (GRCm38) |
|
probably null |
Het |
Cacna1d |
A |
G |
14: 30,123,496 (GRCm38) |
V572A |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,143,730 (GRCm38) |
W882R |
probably damaging |
Het |
Cd72 |
A |
G |
4: 43,453,163 (GRCm38) |
V91A |
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,586,407 (GRCm38) |
W771R |
probably damaging |
Het |
Cdx2 |
G |
T |
5: 147,303,287 (GRCm38) |
T193K |
probably damaging |
Het |
Cfap70 |
A |
C |
14: 20,448,605 (GRCm38) |
S5A |
probably benign |
Het |
Chmp7 |
A |
G |
14: 69,720,997 (GRCm38) |
V241A |
probably damaging |
Het |
D3Ertd751e |
A |
G |
3: 41,753,878 (GRCm38) |
Y150C |
probably damaging |
Het |
Depdc5 |
T |
C |
5: 32,943,240 (GRCm38) |
S832P |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,721,531 (GRCm38) |
S4673G |
probably benign |
Het |
Dock4 |
G |
T |
12: 40,737,540 (GRCm38) |
S818I |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,064,479 (GRCm38) |
Q156* |
probably null |
Het |
Espnl |
T |
C |
1: 91,322,287 (GRCm38) |
V52A |
probably damaging |
Het |
Flcn |
T |
C |
11: 59,801,076 (GRCm38) |
N249S |
probably benign |
Het |
Gemin6 |
C |
A |
17: 80,225,710 (GRCm38) |
A24D |
probably damaging |
Het |
Gm5773 |
A |
G |
3: 93,774,032 (GRCm38) |
H337R |
probably benign |
Het |
Gm9733 |
A |
G |
3: 15,296,601 (GRCm38) |
L163P |
probably damaging |
Het |
Hal |
T |
C |
10: 93,503,482 (GRCm38) |
S478P |
possibly damaging |
Het |
Hectd1 |
T |
A |
12: 51,769,318 (GRCm38) |
M1324L |
possibly damaging |
Het |
Hyal5 |
T |
A |
6: 24,876,344 (GRCm38) |
L72Q |
probably damaging |
Het |
Ift140 |
C |
A |
17: 25,045,523 (GRCm38) |
C557* |
probably null |
Het |
Ikbkap |
C |
A |
4: 56,784,596 (GRCm38) |
V466L |
probably benign |
Het |
Kbtbd3 |
G |
T |
9: 4,330,144 (GRCm38) |
V173L |
possibly damaging |
Het |
Kif14 |
A |
G |
1: 136,527,393 (GRCm38) |
E1551G |
probably damaging |
Het |
Krt17 |
G |
A |
11: 100,260,878 (GRCm38) |
R30* |
probably null |
Het |
Lamb3 |
A |
T |
1: 193,321,053 (GRCm38) |
D100V |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,416,106 (GRCm38) |
D1385G |
probably damaging |
Het |
Mettl25 |
C |
T |
10: 105,826,525 (GRCm38) |
V195I |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,301,692 (GRCm38) |
T1466A |
probably benign |
Het |
Myo3b |
T |
A |
2: 70,105,425 (GRCm38) |
C61S |
probably benign |
Het |
Nacc2 |
T |
G |
2: 26,062,261 (GRCm38) |
N361T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,418,574 (GRCm38) |
K438M |
possibly damaging |
Het |
Nipal4 |
A |
G |
11: 46,150,441 (GRCm38) |
V309A |
possibly damaging |
Het |
Nomo1 |
T |
C |
7: 46,079,594 (GRCm38) |
|
probably null |
Het |
Nubp2 |
T |
C |
17: 24,884,471 (GRCm38) |
E144G |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,800,124 (GRCm38) |
I266F |
probably benign |
Het |
Olfr1126 |
T |
C |
2: 87,458,037 (GRCm38) |
F291L |
probably benign |
Het |
Olfr593 |
G |
A |
7: 103,212,726 (GRCm38) |
V289M |
possibly damaging |
Het |
Olfr694 |
A |
G |
7: 106,689,255 (GRCm38) |
Y159H |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,595,646 (GRCm38) |
|
probably null |
Het |
Otogl |
T |
A |
10: 107,806,696 (GRCm38) |
N1291I |
probably damaging |
Het |
Pah |
C |
T |
10: 87,567,281 (GRCm38) |
P173S |
possibly damaging |
Het |
Pga5 |
A |
G |
19: 10,669,453 (GRCm38) |
Y305H |
probably damaging |
Het |
Plekha4 |
A |
G |
7: 45,532,358 (GRCm38) |
H62R |
probably damaging |
Het |
Ppfia4 |
T |
C |
1: 134,329,189 (GRCm38) |
E98G |
possibly damaging |
Het |
Ptk2 |
A |
T |
15: 73,343,283 (GRCm38) |
|
probably null |
Het |
Raet1e |
C |
A |
10: 22,180,862 (GRCm38) |
H112Q |
possibly damaging |
Het |
Scai |
T |
A |
2: 39,075,042 (GRCm38) |
I597F |
probably benign |
Het |
Slc35c2 |
C |
T |
2: 165,280,837 (GRCm38) |
G176S |
probably damaging |
Het |
Slc35f4 |
A |
T |
14: 49,304,256 (GRCm38) |
I347N |
possibly damaging |
Het |
Slc52a3 |
T |
C |
2: 152,008,156 (GRCm38) |
*461Q |
probably null |
Het |
Slc6a1 |
G |
A |
6: 114,302,800 (GRCm38) |
V142I |
probably benign |
Het |
Tbc1d31 |
C |
A |
15: 57,940,753 (GRCm38) |
T388N |
probably benign |
Het |
Tmem63c |
T |
C |
12: 87,075,639 (GRCm38) |
W404R |
probably damaging |
Het |
Tmem79 |
A |
G |
3: 88,333,321 (GRCm38) |
S107P |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,884,728 (GRCm38) |
E741K |
probably damaging |
Het |
Trpm5 |
G |
T |
7: 143,082,958 (GRCm38) |
T414N |
probably damaging |
Het |
Tsnaxip1 |
T |
A |
8: 105,844,488 (GRCm38) |
I660N |
possibly damaging |
Het |
Ube2q2 |
T |
C |
9: 55,163,007 (GRCm38) |
S78P |
probably damaging |
Het |
Vac14 |
A |
T |
8: 110,635,375 (GRCm38) |
|
probably null |
Het |
Vps51 |
G |
T |
19: 6,071,437 (GRCm38) |
S185* |
probably null |
Het |
Zfp11 |
C |
T |
5: 129,658,238 (GRCm38) |
G53E |
possibly damaging |
Het |
Zfp532 |
A |
T |
18: 65,682,985 (GRCm38) |
I810F |
possibly damaging |
Het |
Zfp599 |
C |
T |
9: 22,249,759 (GRCm38) |
C370Y |
probably damaging |
Het |
|
Other mutations in Plxnd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00764:Plxnd1
|
APN |
6 |
115,967,972 (GRCm38) |
missense |
possibly damaging |
0.51 |
IGL01099:Plxnd1
|
APN |
6 |
115,969,945 (GRCm38) |
missense |
probably benign |
|
IGL01323:Plxnd1
|
APN |
6 |
115,966,799 (GRCm38) |
missense |
possibly damaging |
0.81 |
IGL01382:Plxnd1
|
APN |
6 |
115,960,527 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01786:Plxnd1
|
APN |
6 |
115,959,935 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02244:Plxnd1
|
APN |
6 |
115,978,257 (GRCm38) |
missense |
probably benign |
0.39 |
IGL02272:Plxnd1
|
APN |
6 |
115,993,628 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02293:Plxnd1
|
APN |
6 |
115,963,913 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02465:Plxnd1
|
APN |
6 |
115,955,742 (GRCm38) |
makesense |
probably null |
|
IGL02873:Plxnd1
|
APN |
6 |
115,959,976 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03209:Plxnd1
|
APN |
6 |
115,962,357 (GRCm38) |
missense |
probably damaging |
1.00 |
Hiss
|
UTSW |
6 |
115,969,929 (GRCm38) |
missense |
possibly damaging |
0.94 |
murmer
|
UTSW |
6 |
115,968,793 (GRCm38) |
missense |
probably benign |
0.00 |
mutter
|
UTSW |
6 |
115,968,044 (GRCm38) |
missense |
probably benign |
0.27 |
rattle
|
UTSW |
6 |
115,959,794 (GRCm38) |
missense |
probably damaging |
0.96 |
R0238:Plxnd1
|
UTSW |
6 |
115,968,793 (GRCm38) |
missense |
probably benign |
0.00 |
R0238:Plxnd1
|
UTSW |
6 |
115,968,793 (GRCm38) |
missense |
probably benign |
0.00 |
R0239:Plxnd1
|
UTSW |
6 |
115,968,793 (GRCm38) |
missense |
probably benign |
0.00 |
R0357:Plxnd1
|
UTSW |
6 |
115,969,460 (GRCm38) |
missense |
probably benign |
0.00 |
R0646:Plxnd1
|
UTSW |
6 |
115,958,699 (GRCm38) |
splice site |
probably benign |
|
R0648:Plxnd1
|
UTSW |
6 |
115,994,001 (GRCm38) |
missense |
possibly damaging |
0.86 |
R0718:Plxnd1
|
UTSW |
6 |
115,966,638 (GRCm38) |
missense |
possibly damaging |
0.68 |
R1116:Plxnd1
|
UTSW |
6 |
115,967,005 (GRCm38) |
splice site |
probably null |
|
R1292:Plxnd1
|
UTSW |
6 |
115,962,683 (GRCm38) |
unclassified |
probably benign |
|
R1715:Plxnd1
|
UTSW |
6 |
115,968,681 (GRCm38) |
missense |
probably benign |
0.02 |
R1760:Plxnd1
|
UTSW |
6 |
115,967,779 (GRCm38) |
missense |
possibly damaging |
0.95 |
R1799:Plxnd1
|
UTSW |
6 |
115,994,057 (GRCm38) |
missense |
probably damaging |
1.00 |
R1817:Plxnd1
|
UTSW |
6 |
115,980,601 (GRCm38) |
missense |
possibly damaging |
0.83 |
R1848:Plxnd1
|
UTSW |
6 |
115,966,546 (GRCm38) |
missense |
probably damaging |
1.00 |
R1851:Plxnd1
|
UTSW |
6 |
115,963,914 (GRCm38) |
missense |
probably damaging |
1.00 |
R1864:Plxnd1
|
UTSW |
6 |
115,969,441 (GRCm38) |
splice site |
probably null |
|
R1865:Plxnd1
|
UTSW |
6 |
115,969,441 (GRCm38) |
splice site |
probably null |
|
R1875:Plxnd1
|
UTSW |
6 |
115,978,084 (GRCm38) |
splice site |
probably null |
|
R1899:Plxnd1
|
UTSW |
6 |
115,969,363 (GRCm38) |
missense |
probably benign |
|
R1913:Plxnd1
|
UTSW |
6 |
115,978,017 (GRCm38) |
missense |
possibly damaging |
0.50 |
R1970:Plxnd1
|
UTSW |
6 |
115,962,517 (GRCm38) |
missense |
probably damaging |
1.00 |
R2007:Plxnd1
|
UTSW |
6 |
115,967,255 (GRCm38) |
missense |
probably damaging |
1.00 |
R2134:Plxnd1
|
UTSW |
6 |
115,957,548 (GRCm38) |
missense |
probably damaging |
1.00 |
R2202:Plxnd1
|
UTSW |
6 |
115,962,764 (GRCm38) |
missense |
probably benign |
0.45 |
R2230:Plxnd1
|
UTSW |
6 |
115,964,144 (GRCm38) |
missense |
probably damaging |
1.00 |
R2267:Plxnd1
|
UTSW |
6 |
115,962,743 (GRCm38) |
missense |
probably benign |
0.29 |
R2427:Plxnd1
|
UTSW |
6 |
115,967,748 (GRCm38) |
critical splice donor site |
probably null |
|
R4108:Plxnd1
|
UTSW |
6 |
115,959,315 (GRCm38) |
missense |
probably damaging |
1.00 |
R4233:Plxnd1
|
UTSW |
6 |
115,965,953 (GRCm38) |
missense |
probably benign |
0.30 |
R4280:Plxnd1
|
UTSW |
6 |
115,956,095 (GRCm38) |
splice site |
probably null |
|
R4280:Plxnd1
|
UTSW |
6 |
115,956,094 (GRCm38) |
splice site |
probably benign |
|
R4346:Plxnd1
|
UTSW |
6 |
115,977,980 (GRCm38) |
missense |
probably benign |
0.16 |
R4439:Plxnd1
|
UTSW |
6 |
115,993,976 (GRCm38) |
missense |
probably damaging |
0.99 |
R4572:Plxnd1
|
UTSW |
6 |
115,955,756 (GRCm38) |
missense |
probably damaging |
1.00 |
R4576:Plxnd1
|
UTSW |
6 |
115,968,044 (GRCm38) |
missense |
probably benign |
0.27 |
R4599:Plxnd1
|
UTSW |
6 |
115,994,276 (GRCm38) |
missense |
probably damaging |
1.00 |
R4614:Plxnd1
|
UTSW |
6 |
115,972,525 (GRCm38) |
missense |
possibly damaging |
0.83 |
R4700:Plxnd1
|
UTSW |
6 |
115,958,615 (GRCm38) |
missense |
probably damaging |
1.00 |
R4705:Plxnd1
|
UTSW |
6 |
115,958,620 (GRCm38) |
missense |
probably damaging |
1.00 |
R4806:Plxnd1
|
UTSW |
6 |
115,960,855 (GRCm38) |
missense |
probably damaging |
1.00 |
R4944:Plxnd1
|
UTSW |
6 |
115,955,765 (GRCm38) |
missense |
probably damaging |
1.00 |
R4977:Plxnd1
|
UTSW |
6 |
115,994,376 (GRCm38) |
missense |
probably damaging |
1.00 |
R5069:Plxnd1
|
UTSW |
6 |
115,965,901 (GRCm38) |
missense |
probably damaging |
0.98 |
R5155:Plxnd1
|
UTSW |
6 |
115,958,988 (GRCm38) |
critical splice donor site |
probably null |
|
R5460:Plxnd1
|
UTSW |
6 |
115,957,648 (GRCm38) |
missense |
probably damaging |
1.00 |
R5729:Plxnd1
|
UTSW |
6 |
115,965,877 (GRCm38) |
missense |
probably damaging |
1.00 |
R5909:Plxnd1
|
UTSW |
6 |
115,968,688 (GRCm38) |
missense |
probably benign |
0.00 |
R5992:Plxnd1
|
UTSW |
6 |
115,967,787 (GRCm38) |
critical splice acceptor site |
probably null |
|
R6129:Plxnd1
|
UTSW |
6 |
115,978,174 (GRCm38) |
missense |
probably damaging |
1.00 |
R6254:Plxnd1
|
UTSW |
6 |
115,977,960 (GRCm38) |
missense |
probably benign |
0.01 |
R6273:Plxnd1
|
UTSW |
6 |
115,978,492 (GRCm38) |
missense |
probably damaging |
1.00 |
R6310:Plxnd1
|
UTSW |
6 |
115,976,736 (GRCm38) |
missense |
possibly damaging |
0.94 |
R6732:Plxnd1
|
UTSW |
6 |
115,969,929 (GRCm38) |
missense |
possibly damaging |
0.94 |
R6857:Plxnd1
|
UTSW |
6 |
115,993,763 (GRCm38) |
missense |
probably benign |
0.05 |
R7243:Plxnd1
|
UTSW |
6 |
115,972,507 (GRCm38) |
missense |
probably benign |
0.00 |
R7282:Plxnd1
|
UTSW |
6 |
115,960,837 (GRCm38) |
missense |
probably damaging |
1.00 |
R7632:Plxnd1
|
UTSW |
6 |
115,976,639 (GRCm38) |
missense |
probably benign |
|
R7699:Plxnd1
|
UTSW |
6 |
115,959,794 (GRCm38) |
missense |
probably damaging |
0.96 |
R7915:Plxnd1
|
UTSW |
6 |
115,966,918 (GRCm38) |
missense |
probably benign |
0.00 |
R8090:Plxnd1
|
UTSW |
6 |
115,956,617 (GRCm38) |
missense |
probably damaging |
1.00 |
R8382:Plxnd1
|
UTSW |
6 |
115,972,472 (GRCm38) |
missense |
probably benign |
|
R8507:Plxnd1
|
UTSW |
6 |
115,966,905 (GRCm38) |
missense |
probably damaging |
0.97 |
R8539:Plxnd1
|
UTSW |
6 |
115,962,807 (GRCm38) |
missense |
possibly damaging |
0.94 |
R8548:Plxnd1
|
UTSW |
6 |
115,957,597 (GRCm38) |
missense |
probably damaging |
1.00 |
R8963:Plxnd1
|
UTSW |
6 |
115,972,545 (GRCm38) |
nonsense |
probably null |
|
R9119:Plxnd1
|
UTSW |
6 |
115,955,871 (GRCm38) |
splice site |
probably benign |
|
R9177:Plxnd1
|
UTSW |
6 |
115,966,508 (GRCm38) |
missense |
probably benign |
0.00 |
R9182:Plxnd1
|
UTSW |
6 |
115,993,785 (GRCm38) |
missense |
probably damaging |
0.98 |
R9185:Plxnd1
|
UTSW |
6 |
115,957,565 (GRCm38) |
missense |
probably damaging |
1.00 |
R9226:Plxnd1
|
UTSW |
6 |
115,957,563 (GRCm38) |
missense |
probably damaging |
1.00 |
R9433:Plxnd1
|
UTSW |
6 |
115,968,793 (GRCm38) |
missense |
probably benign |
0.00 |
R9449:Plxnd1
|
UTSW |
6 |
115,955,769 (GRCm38) |
missense |
probably damaging |
1.00 |
R9451:Plxnd1
|
UTSW |
6 |
115,963,316 (GRCm38) |
missense |
possibly damaging |
0.72 |
R9599:Plxnd1
|
UTSW |
6 |
115,963,313 (GRCm38) |
missense |
possibly damaging |
0.78 |
R9627:Plxnd1
|
UTSW |
6 |
115,963,313 (GRCm38) |
missense |
possibly damaging |
0.78 |
R9644:Plxnd1
|
UTSW |
6 |
115,963,313 (GRCm38) |
missense |
possibly damaging |
0.78 |
R9672:Plxnd1
|
UTSW |
6 |
115,963,313 (GRCm38) |
missense |
possibly damaging |
0.78 |
X0024:Plxnd1
|
UTSW |
6 |
115,963,310 (GRCm38) |
missense |
probably benign |
0.02 |
X0026:Plxnd1
|
UTSW |
6 |
115,966,784 (GRCm38) |
missense |
possibly damaging |
0.88 |
Z1088:Plxnd1
|
UTSW |
6 |
115,967,510 (GRCm38) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGCAATGCCTGACACTCACTC -3'
(R):5'- AGCAGCTCAGCAGCCTGATTTG -3'
Sequencing Primer
(F):5'- ACTCCTCTGAAACGGTGTATCTG -3'
(R):5'- cccacccttagcccagtc -3'
|
Posted On |
2013-05-09 |