Incidental Mutation 'R4572:Plxnd1'
| ID |
342190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnd1
|
| Ensembl Gene |
ENSMUSG00000030123 |
| Gene Name |
plexin D1 |
| Synonyms |
6230425C21Rik, b2b1863Clo, b2b553Clo |
| MMRRC Submission |
041796-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4572 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115931772-115971966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 115932717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 1921
(C1921F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015511]
|
| AlphaFold |
Q3UH93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015511
AA Change: C1921F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: C1921F
| 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 |
0.3156 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (71/71) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,107,374 (GRCm39) |
I747N |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,973,268 (GRCm39) |
Y97C |
probably damaging |
Het |
| Alox12e |
A |
G |
11: 70,212,007 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,414,075 (GRCm39) |
S2014T |
probably damaging |
Het |
| Ankrd36 |
A |
T |
11: 5,639,340 (GRCm39) |
|
probably null |
Het |
| Apobec1 |
T |
C |
6: 122,558,356 (GRCm39) |
D133G |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,283,366 (GRCm39) |
I181N |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,060 (GRCm39) |
V646A |
probably damaging |
Het |
| Clasrp |
A |
G |
7: 19,318,389 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,330,751 (GRCm39) |
T423A |
probably benign |
Het |
| Crtap |
T |
C |
9: 114,213,874 (GRCm39) |
D227G |
probably benign |
Het |
| Cyp17a1 |
A |
G |
19: 46,658,990 (GRCm39) |
F217S |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,440,455 (GRCm39) |
M1036V |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,973,860 (GRCm39) |
I2818N |
probably benign |
Het |
| Dok6 |
T |
A |
18: 89,492,071 (GRCm39) |
I169F |
possibly damaging |
Het |
| Duox2 |
T |
A |
2: 122,112,207 (GRCm39) |
R1326S |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,796,361 (GRCm39) |
T357A |
unknown |
Het |
| Ephb2 |
A |
C |
4: 136,383,251 (GRCm39) |
F942C |
probably damaging |
Het |
| Fscn3 |
T |
A |
6: 28,430,634 (GRCm39) |
|
probably null |
Het |
| Gabrb2 |
A |
G |
11: 42,484,744 (GRCm39) |
N267S |
possibly damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,282,001 (GRCm39) |
Y452F |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,292,419 (GRCm39) |
S457P |
probably damaging |
Het |
| Gm1993 |
C |
T |
X: 25,515,656 (GRCm39) |
R77H |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,865,583 (GRCm39) |
|
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,140,682 (GRCm39) |
|
probably null |
Het |
| Hus1 |
A |
T |
11: 8,957,617 (GRCm39) |
|
probably null |
Het |
| Ino80 |
G |
A |
2: 119,232,839 (GRCm39) |
R1160W |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,212,412 (GRCm39) |
F27L |
probably damaging |
Het |
| Kri1 |
A |
T |
9: 21,191,680 (GRCm39) |
F187L |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,691,336 (GRCm39) |
|
noncoding transcript |
Het |
| Mapk15 |
T |
C |
15: 75,870,599 (GRCm39) |
|
probably benign |
Het |
| Mrgpre |
G |
A |
7: 143,334,841 (GRCm39) |
L221F |
probably damaging |
Het |
| Mrpl50 |
A |
T |
4: 49,514,399 (GRCm39) |
S91T |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Mup15 |
A |
G |
4: 61,356,454 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
G |
9: 27,005,911 (GRCm39) |
D1469G |
probably damaging |
Het |
| Nlrp9b |
G |
A |
7: 19,760,606 (GRCm39) |
|
probably null |
Het |
| Npy6r |
A |
T |
18: 44,408,984 (GRCm39) |
Y135F |
probably benign |
Het |
| Or7e170 |
A |
C |
9: 19,795,275 (GRCm39) |
C109G |
probably benign |
Het |
| Phf14 |
G |
A |
6: 12,006,823 (GRCm39) |
R825Q |
probably damaging |
Het |
| Pigg |
A |
G |
5: 108,480,751 (GRCm39) |
M379V |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,897 (GRCm39) |
Q315L |
probably benign |
Het |
| Ptger4 |
A |
C |
15: 5,272,614 (GRCm39) |
S2A |
probably benign |
Het |
| Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
| Rab4a |
A |
T |
8: 124,560,799 (GRCm39) |
D196V |
probably benign |
Het |
| Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
| Rgs14 |
A |
T |
13: 55,527,875 (GRCm39) |
N266I |
probably damaging |
Het |
| Serpina1c |
A |
T |
12: 103,864,967 (GRCm39) |
|
probably benign |
Het |
| Sesn3 |
G |
A |
9: 14,232,516 (GRCm39) |
R263H |
probably benign |
Het |
| Slfn1 |
A |
T |
11: 83,012,289 (GRCm39) |
D135V |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,926,193 (GRCm39) |
K46E |
possibly damaging |
Het |
| Srcin1 |
A |
C |
11: 97,425,760 (GRCm39) |
D432E |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,713,888 (GRCm39) |
E217G |
probably damaging |
Het |
| Terf2ip |
A |
G |
8: 112,738,649 (GRCm39) |
D179G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,509,343 (GRCm39) |
F556L |
possibly damaging |
Het |
| Tmed4 |
CTCTTTCT |
CTCT |
11: 6,224,461 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
G |
T |
15: 72,808,916 (GRCm39) |
Q537K |
possibly damaging |
Het |
| Trim30a |
G |
T |
7: 104,060,395 (GRCm39) |
C460* |
probably null |
Het |
| Trim35 |
T |
C |
14: 66,545,322 (GRCm39) |
Y298H |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,306,479 (GRCm39) |
H209Q |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,021,830 (GRCm39) |
K627R |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,928,872 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Wnt9b |
G |
A |
11: 103,622,981 (GRCm39) |
R141C |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,580,611 (GRCm39) |
M37V |
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,944,628 (GRCm39) |
N186K |
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 |
|
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 |
|
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 |
2015-09-24 |
Incidental Mutation