Incidental Mutation 'R4944:Plxnd1'
| ID |
383342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnd1
|
| Ensembl Gene |
ENSMUSG00000030123 |
| Gene Name |
plexin D1 |
| Synonyms |
6230425C21Rik, b2b1863Clo, b2b553Clo |
| MMRRC Submission |
042541-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115931772-115971966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115932726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1918
(I1918T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015511]
|
| AlphaFold |
Q3UH93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015511
AA Change: I1918T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: I1918T
| 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 |
noncoding transcript
Transcript: ENSMUST00000123165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205003
|
| Meta Mutation Damage Score |
0.2902 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
A |
5: 8,984,327 (GRCm39) |
|
probably null |
Het |
| Angptl7 |
C |
G |
4: 148,584,534 (GRCm39) |
Q71H |
probably damaging |
Het |
| Arhgap30 |
A |
T |
1: 171,229,822 (GRCm39) |
N176Y |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,202,256 (GRCm39) |
S805T |
probably damaging |
Het |
| Atxn1 |
T |
G |
13: 45,720,407 (GRCm39) |
H496P |
probably damaging |
Het |
| Cabin1 |
C |
T |
10: 75,557,197 (GRCm39) |
G1147D |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,575,255 (GRCm39) |
S597P |
probably damaging |
Het |
| Catsperd |
T |
C |
17: 56,969,744 (GRCm39) |
S613P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Cntn1 |
C |
A |
15: 92,126,549 (GRCm39) |
P47Q |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,261,164 (GRCm39) |
L38P |
possibly damaging |
Het |
| Col5a2 |
T |
G |
1: 45,415,855 (GRCm39) |
I1431L |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,048,772 (GRCm39) |
G2310D |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,391,528 (GRCm39) |
I39N |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,044,586 (GRCm39) |
|
probably benign |
Het |
| Drgx |
G |
T |
14: 32,330,206 (GRCm39) |
Q136H |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,489,497 (GRCm39) |
|
probably null |
Het |
| Galnt11 |
T |
C |
5: 25,470,336 (GRCm39) |
I595T |
probably damaging |
Het |
| Gp5 |
G |
A |
16: 30,128,326 (GRCm39) |
A116V |
possibly damaging |
Het |
| Gpn3 |
T |
C |
5: 122,520,303 (GRCm39) |
|
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,331,644 (GRCm39) |
N221S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,022,079 (GRCm39) |
E989G |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,743,847 (GRCm39) |
|
probably null |
Het |
| Josd2 |
T |
C |
7: 44,120,592 (GRCm39) |
S110P |
probably damaging |
Het |
| Kat14 |
C |
A |
2: 144,217,873 (GRCm39) |
T123K |
probably damaging |
Het |
| Lamtor1 |
C |
T |
7: 101,558,971 (GRCm39) |
T48I |
probably damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,546 (GRCm39) |
L113P |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,504,286 (GRCm39) |
T2561A |
possibly damaging |
Het |
| Mog |
T |
C |
17: 37,331,433 (GRCm39) |
E89G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
| Mtx1 |
T |
C |
3: 89,121,205 (GRCm39) |
Y143C |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,548,507 (GRCm39) |
E1409G |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,400,676 (GRCm39) |
H410R |
probably damaging |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,486 (GRCm39) |
E233G |
possibly damaging |
Het |
| Oas1h |
A |
G |
5: 121,000,846 (GRCm39) |
E152G |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,158 (GRCm39) |
S186P |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,887,269 (GRCm39) |
F222L |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,358,429 (GRCm39) |
S2716G |
probably null |
Het |
| Pla2g4e |
T |
C |
2: 120,001,718 (GRCm39) |
T644A |
probably benign |
Het |
| Psmg1 |
A |
T |
16: 95,790,812 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,047,136 (GRCm39) |
R364C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,026,088 (GRCm39) |
I945V |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,088,072 (GRCm39) |
N234S |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,004,010 (GRCm39) |
|
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,193 (GRCm39) |
R177* |
probably null |
Het |
| Sema4c |
C |
A |
1: 36,589,392 (GRCm39) |
C578F |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,531,668 (GRCm39) |
|
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,875,571 (GRCm39) |
T543A |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,687 (GRCm39) |
F123I |
probably benign |
Het |
| Smtn |
C |
T |
11: 3,472,916 (GRCm39) |
R737H |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,866,300 (GRCm39) |
I14T |
possibly damaging |
Het |
| Stradb |
T |
C |
1: 59,019,599 (GRCm39) |
F43L |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,245,866 (GRCm39) |
D1029G |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,860,613 (GRCm39) |
Y311C |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 135,995,404 (GRCm39) |
N249I |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,241,573 (GRCm39) |
M2134T |
probably benign |
Het |
| Tg |
G |
A |
15: 66,636,186 (GRCm39) |
G591D |
probably damaging |
Het |
| Tm4sf20 |
T |
A |
1: 82,746,084 (GRCm39) |
I19F |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,888,676 (GRCm39) |
K1262E |
probably benign |
Het |
| Ube2r2 |
A |
G |
4: 41,190,742 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,927 (GRCm39) |
S257P |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,880,077 (GRCm39) |
N1038S |
probably benign |
Het |
| Utp25 |
A |
T |
1: 192,797,262 (GRCm39) |
M530K |
probably damaging |
Het |
| Vmn1r121 |
C |
T |
7: 20,831,538 (GRCm39) |
E301K |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,722,959 (GRCm39) |
H105L |
probably benign |
Het |
| Zgrf1 |
C |
T |
3: 127,355,517 (GRCm39) |
Q248* |
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 |
|
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 |
|
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'- GCCTTCATCCTAGAGTTGGGTC -3'
(R):5'- CACTTTGATGAGGTCTCTGGC -3'
Sequencing Primer
(F):5'- ACAAGGCCAAGAGCTCGGC -3'
(R):5'- ATGAGGTCTCTGGCGGGTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation