Incidental Mutation 'R2007:Plxnd1'
ID |
222487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxnd1
|
Ensembl Gene |
ENSMUSG00000030123 |
Gene Name |
plexin D1 |
Synonyms |
6230425C21Rik, b2b1863Clo, b2b553Clo |
MMRRC Submission |
040016-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2007 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
115931772-115971966 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115944216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1091
(V1091E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015511]
|
AlphaFold |
Q3UH93 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015511
AA Change: V1091E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000015511 Gene: ENSMUSG00000030123 AA Change: V1091E
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 |
unknown
Transcript: ENSMUST00000131590
AA Change: V199E
|
SMART Domains |
Protein: ENSMUSP00000115650 Gene: ENSMUSG00000030123 AA Change: V199E
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 |
0.8204 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
96% (66/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,519,855 (GRCm39) |
N1387K |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,141,987 (GRCm39) |
F8L |
probably benign |
Het |
Abcg5 |
G |
T |
17: 84,977,348 (GRCm39) |
L270M |
probably damaging |
Het |
Acad10 |
A |
G |
5: 121,772,814 (GRCm39) |
L489S |
probably damaging |
Het |
Acsf2 |
G |
A |
11: 94,462,466 (GRCm39) |
T183I |
possibly damaging |
Het |
Adamts7 |
A |
T |
9: 90,059,909 (GRCm39) |
E282V |
probably damaging |
Het |
Adcy4 |
C |
T |
14: 56,015,770 (GRCm39) |
G440R |
possibly damaging |
Het |
AI429214 |
G |
A |
8: 37,460,923 (GRCm39) |
V24I |
probably benign |
Het |
Angptl3 |
T |
C |
4: 98,925,634 (GRCm39) |
I320T |
probably damaging |
Het |
Apoa5 |
A |
T |
9: 46,181,665 (GRCm39) |
Q247L |
possibly damaging |
Het |
Astn1 |
T |
G |
1: 158,436,875 (GRCm39) |
V811G |
probably damaging |
Het |
Bard1 |
C |
T |
1: 71,070,562 (GRCm39) |
V641I |
probably benign |
Het |
Calb2 |
T |
C |
8: 110,894,702 (GRCm39) |
E23G |
probably benign |
Het |
Cdkl4 |
A |
G |
17: 80,863,730 (GRCm39) |
|
probably benign |
Het |
Cep85l |
A |
G |
10: 53,154,171 (GRCm39) |
|
probably benign |
Het |
Cfap91 |
T |
C |
16: 38,118,616 (GRCm39) |
I728V |
probably benign |
Het |
Chd1 |
G |
T |
17: 15,951,268 (GRCm39) |
G281V |
probably damaging |
Het |
Col17a1 |
C |
T |
19: 47,656,141 (GRCm39) |
G586E |
probably damaging |
Het |
Cpne3 |
T |
A |
4: 19,553,833 (GRCm39) |
D66V |
probably damaging |
Het |
Csde1 |
A |
T |
3: 102,952,107 (GRCm39) |
I204L |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,404,532 (GRCm39) |
V2670E |
probably damaging |
Het |
Ddx10 |
A |
G |
9: 53,124,578 (GRCm39) |
V428A |
probably benign |
Het |
Dgkh |
T |
A |
14: 78,840,489 (GRCm39) |
D530V |
probably benign |
Het |
Dis3l |
A |
T |
9: 64,215,558 (GRCm39) |
|
probably null |
Het |
Dst |
T |
G |
1: 34,265,093 (GRCm39) |
|
probably benign |
Het |
Eml6 |
C |
T |
11: 29,798,814 (GRCm39) |
|
probably null |
Het |
En1 |
A |
T |
1: 120,531,133 (GRCm39) |
E124D |
probably benign |
Het |
Exo1 |
G |
A |
1: 175,736,096 (GRCm39) |
E827K |
probably damaging |
Het |
Fktn |
T |
C |
4: 53,735,099 (GRCm39) |
F246L |
possibly damaging |
Het |
Fndc1 |
G |
A |
17: 7,997,580 (GRCm39) |
|
probably benign |
Het |
Foxp2 |
G |
A |
6: 15,396,818 (GRCm39) |
C381Y |
probably damaging |
Het |
Galnt6 |
A |
T |
15: 100,595,047 (GRCm39) |
Y485N |
probably damaging |
Het |
Gemin4 |
G |
A |
11: 76,103,444 (GRCm39) |
A439V |
possibly damaging |
Het |
Gpatch8 |
A |
G |
11: 102,391,657 (GRCm39) |
I155T |
unknown |
Het |
Hmcn2 |
A |
G |
2: 31,328,267 (GRCm39) |
D4316G |
possibly damaging |
Het |
Hnrnpr |
T |
A |
4: 136,046,824 (GRCm39) |
|
probably benign |
Het |
Hpx |
G |
A |
7: 105,244,781 (GRCm39) |
R135C |
probably damaging |
Het |
Khdrbs2 |
T |
G |
1: 32,559,629 (GRCm39) |
E151A |
probably benign |
Het |
Krt6b |
A |
T |
15: 101,586,562 (GRCm39) |
L309H |
probably damaging |
Het |
Lce1c |
G |
T |
3: 92,587,765 (GRCm39) |
C64F |
unknown |
Het |
Marchf6 |
C |
T |
15: 31,462,087 (GRCm39) |
|
probably null |
Het |
Myt1 |
C |
A |
2: 181,437,552 (GRCm39) |
R88S |
probably benign |
Het |
Nemp1 |
A |
G |
10: 127,529,446 (GRCm39) |
S194G |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,639,111 (GRCm39) |
K914R |
probably damaging |
Het |
Or3a1 |
T |
A |
11: 74,225,212 (GRCm39) |
T282S |
possibly damaging |
Het |
Osbp |
T |
C |
19: 11,951,265 (GRCm39) |
M270T |
probably benign |
Het |
Parg |
T |
C |
14: 31,932,531 (GRCm39) |
M457T |
possibly damaging |
Het |
Phf20 |
T |
C |
2: 156,129,874 (GRCm39) |
M482T |
probably benign |
Het |
Pik3c2a |
G |
A |
7: 115,941,472 (GRCm39) |
T1598I |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,798,759 (GRCm39) |
M2689T |
probably damaging |
Het |
Ptcd2 |
A |
T |
13: 99,456,744 (GRCm39) |
L360Q |
probably damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Serpinc1 |
A |
T |
1: 160,821,110 (GRCm39) |
T65S |
probably benign |
Het |
Sipa1l2 |
G |
A |
8: 126,166,176 (GRCm39) |
T1486I |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,068,968 (GRCm39) |
L949P |
probably damaging |
Het |
Ssc5d |
T |
G |
7: 4,931,628 (GRCm39) |
C278W |
probably damaging |
Het |
Tbc1d14 |
T |
G |
5: 36,728,718 (GRCm39) |
H216P |
possibly damaging |
Het |
Tmem183a |
A |
G |
1: 134,277,861 (GRCm39) |
F301S |
probably damaging |
Het |
Tmem233 |
A |
C |
5: 116,189,496 (GRCm39) |
N94K |
possibly damaging |
Het |
Tmprss13 |
A |
G |
9: 45,243,843 (GRCm39) |
D193G |
probably damaging |
Het |
Tprkb |
T |
C |
6: 85,910,030 (GRCm39) |
|
probably benign |
Het |
Tram1l1 |
A |
G |
3: 124,115,488 (GRCm39) |
H216R |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,564,484 (GRCm39) |
V28551A |
probably damaging |
Het |
Ubtfl1 |
A |
G |
9: 18,320,547 (GRCm39) |
N25S |
possibly damaging |
Het |
Unc80 |
C |
A |
1: 66,542,935 (GRCm39) |
N396K |
probably damaging |
Het |
Vmn1r171 |
T |
C |
7: 23,332,012 (GRCm39) |
L79P |
probably damaging |
Het |
Vmn2r115 |
G |
T |
17: 23,566,927 (GRCm39) |
V480F |
possibly damaging |
Het |
Xpo4 |
T |
C |
14: 57,824,101 (GRCm39) |
I995V |
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 |
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 |
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'- GAGTTGAGAACCTTGCAGAACTG -3'
(R):5'- AACCTCACCTTCTGGTACATGC -3'
Sequencing Primer
(F):5'- CAGGGTACGATGAGGCCAC -3'
(R):5'- TTCTGGTACATGCAGAACCCAGTC -3'
|
Posted On |
2014-08-25 |