Incidental Mutation 'R3847:Plxna1'
ID |
277427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxna1
|
Ensembl Gene |
ENSMUSG00000030084 |
Gene Name |
plexin A1 |
Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
MMRRC Submission |
040895-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.895)
|
Stock # |
R3847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
89293295-89339595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 89333501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 376
(R376L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049845]
[ENSMUST00000163139]
|
AlphaFold |
P70206 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049845
AA Change: R376L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000063066 Gene: ENSMUSG00000030084 AA Change: R376L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Sema
|
49 |
494 |
7.43e-126 |
SMART |
PSI
|
512 |
562 |
6.4e-11 |
SMART |
PSI
|
658 |
705 |
9.78e-7 |
SMART |
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
PSI
|
806 |
860 |
7.24e-10 |
SMART |
IPT
|
861 |
957 |
3.2e-26 |
SMART |
IPT
|
958 |
1043 |
1.59e-21 |
SMART |
IPT
|
1045 |
1145 |
6.86e-26 |
SMART |
IPT
|
1147 |
1242 |
1.64e-5 |
SMART |
transmembrane domain
|
1243 |
1265 |
N/A |
INTRINSIC |
Pfam:Plexin_cytopl
|
1316 |
1864 |
8.8e-263 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163139
AA Change: R376L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131840 Gene: ENSMUSG00000030084 AA Change: R376L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Sema
|
49 |
494 |
7.43e-126 |
SMART |
PSI
|
512 |
562 |
6.4e-11 |
SMART |
PSI
|
658 |
705 |
9.78e-7 |
SMART |
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
PSI
|
806 |
860 |
7.24e-10 |
SMART |
IPT
|
861 |
957 |
3.2e-26 |
SMART |
IPT
|
958 |
1043 |
1.59e-21 |
SMART |
IPT
|
1045 |
1145 |
6.86e-26 |
SMART |
IPT
|
1147 |
1242 |
1.64e-5 |
SMART |
transmembrane domain
|
1243 |
1265 |
N/A |
INTRINSIC |
Pfam:Plexin_cytopl
|
1315 |
1864 |
2.5e-264 |
PFAM |
|
Meta Mutation Damage Score |
0.2730 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (66/66) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit bone cellularity abnormalities, altered dendritic cell physiology, abnormal proprioceptive and oligodendrocyte morphology, and increased lymphatic branching complexity and LEC numbers. [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 |
4930522L14Rik |
T |
C |
5: 109,884,190 (GRCm39) |
|
probably null |
Het |
Abcc12 |
C |
T |
8: 87,280,020 (GRCm39) |
E338K |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,190,906 (GRCm39) |
S815T |
probably benign |
Het |
Ankrd16 |
G |
A |
2: 11,794,619 (GRCm39) |
E335K |
probably benign |
Het |
Atm |
A |
G |
9: 53,414,375 (GRCm39) |
F905S |
possibly damaging |
Het |
Bckdha |
C |
T |
7: 25,331,077 (GRCm39) |
R281H |
probably damaging |
Het |
Blvra |
C |
T |
2: 126,937,111 (GRCm39) |
T188I |
probably damaging |
Het |
Bmp8b |
C |
A |
4: 123,009,961 (GRCm39) |
|
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
Cacng8 |
T |
C |
7: 3,442,990 (GRCm39) |
S84P |
probably damaging |
Het |
Cad |
T |
A |
5: 31,218,994 (GRCm39) |
V605E |
probably damaging |
Het |
Ccny |
A |
G |
18: 9,449,641 (GRCm39) |
S11P |
probably benign |
Het |
Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
Corin |
T |
C |
5: 72,579,508 (GRCm39) |
E155G |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,836,061 (GRCm39) |
Y1195C |
probably damaging |
Het |
Cyp27a1 |
A |
G |
1: 74,776,718 (GRCm39) |
E501G |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,414,581 (GRCm39) |
N457K |
possibly damaging |
Het |
Dnah7a |
T |
G |
1: 53,540,815 (GRCm39) |
I2520L |
probably benign |
Het |
Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
Fgf14 |
A |
C |
14: 124,217,801 (GRCm39) |
I234R |
probably benign |
Het |
Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
Gad2 |
T |
G |
2: 22,575,000 (GRCm39) |
D472E |
probably benign |
Het |
Garnl3 |
G |
T |
2: 32,882,240 (GRCm39) |
H832N |
probably benign |
Het |
Gm13941 |
T |
C |
2: 110,935,198 (GRCm39) |
M11V |
unknown |
Het |
Gnptab |
T |
A |
10: 88,269,439 (GRCm39) |
L714* |
probably null |
Het |
Golgb1 |
C |
A |
16: 36,719,095 (GRCm39) |
Q334K |
probably benign |
Het |
Gp9 |
A |
G |
6: 87,756,133 (GRCm39) |
I49M |
probably benign |
Het |
Guf1 |
A |
G |
5: 69,718,500 (GRCm39) |
N213S |
probably damaging |
Het |
H2-K2 |
T |
G |
17: 34,216,303 (GRCm39) |
H281P |
probably damaging |
Het |
Hhip |
T |
A |
8: 80,724,124 (GRCm39) |
M373L |
probably benign |
Het |
Ifi203 |
C |
T |
1: 173,761,362 (GRCm39) |
C229Y |
possibly damaging |
Het |
Ighv13-2 |
A |
G |
12: 114,321,418 (GRCm39) |
L88S |
probably damaging |
Het |
Kcna3 |
T |
C |
3: 106,944,012 (GRCm39) |
Y92H |
possibly damaging |
Het |
Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
Lrguk |
A |
G |
6: 34,050,703 (GRCm39) |
D387G |
probably damaging |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Mknk2 |
C |
T |
10: 80,503,809 (GRCm39) |
W367* |
probably null |
Het |
Mocos |
A |
G |
18: 24,809,719 (GRCm39) |
K441E |
probably damaging |
Het |
Mpnd |
T |
C |
17: 56,318,692 (GRCm39) |
S150P |
probably damaging |
Het |
Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
Neurod4 |
C |
T |
10: 130,106,351 (GRCm39) |
V308I |
probably benign |
Het |
Nxf3 |
C |
T |
X: 134,974,732 (GRCm39) |
V474I |
probably benign |
Het |
Or10d5j |
A |
T |
9: 39,867,877 (GRCm39) |
M118K |
probably damaging |
Het |
Or8u10 |
A |
T |
2: 85,915,751 (GRCm39) |
Y123* |
probably null |
Het |
Pam |
T |
A |
1: 97,782,481 (GRCm39) |
|
probably benign |
Het |
Pde5a |
T |
C |
3: 122,596,809 (GRCm39) |
Y467H |
probably damaging |
Het |
Pibf1 |
T |
A |
14: 99,374,557 (GRCm39) |
V332E |
possibly damaging |
Het |
Proz |
A |
G |
8: 13,123,533 (GRCm39) |
E268G |
probably benign |
Het |
Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
Rnf103 |
C |
G |
6: 71,485,859 (GRCm39) |
C163W |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
Septin11 |
G |
T |
5: 93,310,026 (GRCm39) |
M276I |
probably damaging |
Het |
Slc30a4 |
A |
G |
2: 122,544,192 (GRCm39) |
V50A |
probably damaging |
Het |
Sorbs1 |
A |
G |
19: 40,302,887 (GRCm39) |
V570A |
probably damaging |
Het |
Spout1 |
T |
C |
2: 30,067,419 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
C |
12: 76,095,396 (GRCm39) |
L5241P |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
Thsd1 |
A |
G |
8: 22,749,427 (GRCm39) |
H713R |
probably damaging |
Het |
Ttc21b |
A |
G |
2: 66,073,023 (GRCm39) |
L221S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r105 |
A |
G |
17: 20,428,952 (GRCm39) |
I708T |
possibly damaging |
Het |
Vmn2r117 |
G |
T |
17: 23,679,389 (GRCm39) |
H612N |
probably damaging |
Het |
Wnk1 |
C |
T |
6: 119,946,315 (GRCm39) |
G613S |
possibly damaging |
Het |
Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
probably benign |
Het |
Zfp335 |
C |
A |
2: 164,742,026 (GRCm39) |
|
probably null |
Het |
Zmym2 |
T |
A |
14: 57,158,956 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Plxna1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Plxna1
|
APN |
6 |
89,297,980 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01358:Plxna1
|
APN |
6 |
89,299,732 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01475:Plxna1
|
APN |
6 |
89,331,870 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01480:Plxna1
|
APN |
6 |
89,321,078 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01585:Plxna1
|
APN |
6 |
89,306,538 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01804:Plxna1
|
APN |
6 |
89,306,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01909:Plxna1
|
APN |
6 |
89,309,066 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01989:Plxna1
|
APN |
6 |
89,306,396 (GRCm39) |
nonsense |
probably null |
|
IGL02015:Plxna1
|
APN |
6 |
89,319,433 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02023:Plxna1
|
APN |
6 |
89,334,314 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02668:Plxna1
|
APN |
6 |
89,334,251 (GRCm39) |
nonsense |
probably null |
|
IGL02703:Plxna1
|
APN |
6 |
89,333,925 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02954:Plxna1
|
APN |
6 |
89,301,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03212:Plxna1
|
APN |
6 |
89,308,885 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4544001:Plxna1
|
UTSW |
6 |
89,334,411 (GRCm39) |
missense |
probably benign |
0.14 |
R0055:Plxna1
|
UTSW |
6 |
89,306,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0055:Plxna1
|
UTSW |
6 |
89,306,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0147:Plxna1
|
UTSW |
6 |
89,297,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0149:Plxna1
|
UTSW |
6 |
89,297,595 (GRCm39) |
missense |
probably null |
0.95 |
R0166:Plxna1
|
UTSW |
6 |
89,310,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Plxna1
|
UTSW |
6 |
89,300,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R0415:Plxna1
|
UTSW |
6 |
89,334,318 (GRCm39) |
missense |
probably benign |
0.12 |
R0841:Plxna1
|
UTSW |
6 |
89,309,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R1018:Plxna1
|
UTSW |
6 |
89,319,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R1240:Plxna1
|
UTSW |
6 |
89,298,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R1355:Plxna1
|
UTSW |
6 |
89,297,748 (GRCm39) |
unclassified |
probably benign |
|
R1700:Plxna1
|
UTSW |
6 |
89,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Plxna1
|
UTSW |
6 |
89,312,446 (GRCm39) |
missense |
probably benign |
0.00 |
R1957:Plxna1
|
UTSW |
6 |
89,308,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R2314:Plxna1
|
UTSW |
6 |
89,301,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R2968:Plxna1
|
UTSW |
6 |
89,319,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R3118:Plxna1
|
UTSW |
6 |
89,333,958 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3522:Plxna1
|
UTSW |
6 |
89,314,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3619:Plxna1
|
UTSW |
6 |
89,334,435 (GRCm39) |
missense |
probably damaging |
0.97 |
R3766:Plxna1
|
UTSW |
6 |
89,311,757 (GRCm39) |
unclassified |
probably benign |
|
R3849:Plxna1
|
UTSW |
6 |
89,333,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R3872:Plxna1
|
UTSW |
6 |
89,309,674 (GRCm39) |
nonsense |
probably null |
|
R4555:Plxna1
|
UTSW |
6 |
89,300,310 (GRCm39) |
missense |
probably damaging |
0.99 |
R4709:Plxna1
|
UTSW |
6 |
89,311,733 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4726:Plxna1
|
UTSW |
6 |
89,299,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Plxna1
|
UTSW |
6 |
89,309,657 (GRCm39) |
splice site |
probably null |
|
R5053:Plxna1
|
UTSW |
6 |
89,299,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R5221:Plxna1
|
UTSW |
6 |
89,297,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R5449:Plxna1
|
UTSW |
6 |
89,300,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R5480:Plxna1
|
UTSW |
6 |
89,301,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R5575:Plxna1
|
UTSW |
6 |
89,301,523 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5743:Plxna1
|
UTSW |
6 |
89,333,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R5744:Plxna1
|
UTSW |
6 |
89,311,664 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5754:Plxna1
|
UTSW |
6 |
89,310,087 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5868:Plxna1
|
UTSW |
6 |
89,299,704 (GRCm39) |
splice site |
probably benign |
|
R5988:Plxna1
|
UTSW |
6 |
89,334,522 (GRCm39) |
nonsense |
probably null |
|
R6190:Plxna1
|
UTSW |
6 |
89,333,586 (GRCm39) |
nonsense |
probably null |
|
R6425:Plxna1
|
UTSW |
6 |
89,311,647 (GRCm39) |
missense |
probably benign |
0.00 |
R6561:Plxna1
|
UTSW |
6 |
89,333,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R6623:Plxna1
|
UTSW |
6 |
89,299,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R6638:Plxna1
|
UTSW |
6 |
89,301,382 (GRCm39) |
missense |
probably damaging |
0.97 |
R6701:Plxna1
|
UTSW |
6 |
89,296,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R6825:Plxna1
|
UTSW |
6 |
89,297,597 (GRCm39) |
missense |
probably benign |
0.01 |
R6911:Plxna1
|
UTSW |
6 |
89,297,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R7073:Plxna1
|
UTSW |
6 |
89,334,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R7177:Plxna1
|
UTSW |
6 |
89,300,311 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7235:Plxna1
|
UTSW |
6 |
89,317,573 (GRCm39) |
missense |
probably damaging |
0.97 |
R7419:Plxna1
|
UTSW |
6 |
89,334,584 (GRCm39) |
missense |
unknown |
|
R7511:Plxna1
|
UTSW |
6 |
89,318,889 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7543:Plxna1
|
UTSW |
6 |
89,299,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R7665:Plxna1
|
UTSW |
6 |
89,301,520 (GRCm39) |
critical splice donor site |
probably null |
|
R7678:Plxna1
|
UTSW |
6 |
89,308,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R7748:Plxna1
|
UTSW |
6 |
89,314,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7748:Plxna1
|
UTSW |
6 |
89,314,334 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7877:Plxna1
|
UTSW |
6 |
89,300,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R8025:Plxna1
|
UTSW |
6 |
89,308,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Plxna1
|
UTSW |
6 |
89,334,102 (GRCm39) |
missense |
probably benign |
0.20 |
R8277:Plxna1
|
UTSW |
6 |
89,334,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R8782:Plxna1
|
UTSW |
6 |
89,300,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R8867:Plxna1
|
UTSW |
6 |
89,310,079 (GRCm39) |
missense |
probably benign |
0.00 |
R9245:Plxna1
|
UTSW |
6 |
89,314,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Plxna1
|
UTSW |
6 |
89,334,522 (GRCm39) |
nonsense |
probably null |
|
R9269:Plxna1
|
UTSW |
6 |
89,306,541 (GRCm39) |
missense |
probably null |
1.00 |
R9273:Plxna1
|
UTSW |
6 |
89,296,364 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9281:Plxna1
|
UTSW |
6 |
89,300,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Plxna1
|
UTSW |
6 |
89,314,138 (GRCm39) |
missense |
probably benign |
|
R9440:Plxna1
|
UTSW |
6 |
89,318,912 (GRCm39) |
missense |
probably benign |
0.00 |
R9526:Plxna1
|
UTSW |
6 |
89,319,633 (GRCm39) |
missense |
probably benign |
|
R9601:Plxna1
|
UTSW |
6 |
89,308,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R9714:Plxna1
|
UTSW |
6 |
89,296,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R9782:Plxna1
|
UTSW |
6 |
89,333,817 (GRCm39) |
missense |
probably benign |
0.01 |
S24628:Plxna1
|
UTSW |
6 |
89,334,318 (GRCm39) |
missense |
probably benign |
0.12 |
V8831:Plxna1
|
UTSW |
6 |
89,334,119 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Plxna1
|
UTSW |
6 |
89,298,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGGTCCTGCCTCACAAG -3'
(R):5'- TTACGTGGAGTTCCCCATTGG -3'
Sequencing Primer
(F):5'- TCCTGCCTCACAAGGTTGG -3'
(R):5'- AGTTCCCCATTGGCTGCGAG -3'
|
Posted On |
2015-04-06 |