Incidental Mutation 'R7543:Plxna1'
ID |
584008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxna1
|
Ensembl Gene |
ENSMUSG00000030084 |
Gene Name |
plexin A1 |
Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
MMRRC Submission |
045615-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
R7543 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
89293295-89339595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89299837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1644
(D1644G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063066
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049845]
[ENSMUST00000163139]
|
AlphaFold |
P70206 |
PDB Structure |
The Plexin A1 intracellular region in complex with Rac1 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049845
AA Change: D1644G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063066 Gene: ENSMUSG00000030084 AA Change: D1644G
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: D1644G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131840 Gene: ENSMUSG00000030084 AA Change: D1644G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204468
|
Meta Mutation Damage Score |
0.8576 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (71/71) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
A |
5: 125,559,920 (GRCm39) |
S54T |
probably damaging |
Het |
Acsl5 |
G |
A |
19: 55,266,615 (GRCm39) |
V59I |
|
Het |
Acss2 |
A |
T |
2: 155,391,755 (GRCm39) |
I203F |
probably damaging |
Het |
Add2 |
A |
G |
6: 86,083,207 (GRCm39) |
N435S |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,889,972 (GRCm39) |
D88G |
probably benign |
Het |
Ajm1 |
C |
A |
2: 25,467,410 (GRCm39) |
A834S |
possibly damaging |
Het |
Ank3 |
C |
T |
10: 69,786,846 (GRCm39) |
T970M |
possibly damaging |
Het |
Ap3b2 |
A |
T |
7: 81,115,894 (GRCm39) |
|
probably null |
Het |
Apc2 |
A |
G |
10: 80,150,720 (GRCm39) |
K1925E |
possibly damaging |
Het |
Aspscr1 |
A |
G |
11: 120,600,249 (GRCm39) |
N130D |
unknown |
Het |
B3glct |
A |
G |
5: 149,677,604 (GRCm39) |
D411G |
probably damaging |
Het |
Bard1 |
T |
C |
1: 71,114,589 (GRCm39) |
K131E |
probably damaging |
Het |
Bche |
T |
C |
3: 73,609,066 (GRCm39) |
D120G |
probably damaging |
Het |
Brms1l |
A |
T |
12: 55,914,997 (GRCm39) |
D302V |
probably damaging |
Het |
Ccdc191 |
T |
A |
16: 43,718,572 (GRCm39) |
Y56* |
probably null |
Het |
Cela3a |
T |
A |
4: 137,129,883 (GRCm39) |
H246L |
probably damaging |
Het |
Col11a2 |
A |
T |
17: 34,269,430 (GRCm39) |
D440V |
unknown |
Het |
Cplane1 |
T |
C |
15: 8,254,876 (GRCm39) |
I21T |
unknown |
Het |
Dag1 |
C |
T |
9: 108,095,280 (GRCm39) |
V71I |
probably benign |
Het |
Ddx23 |
A |
G |
15: 98,556,139 (GRCm39) |
S60P |
unknown |
Het |
Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
Dync1i1 |
T |
C |
6: 5,784,464 (GRCm39) |
S103P |
possibly damaging |
Het |
Erap1 |
T |
A |
13: 74,822,753 (GRCm39) |
D755E |
probably damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,669 (GRCm39) |
T221A |
probably benign |
Het |
Fbxo4 |
T |
C |
15: 4,007,385 (GRCm39) |
D93G |
probably damaging |
Het |
Fzd5 |
A |
G |
1: 64,774,999 (GRCm39) |
V254A |
probably damaging |
Het |
Gbp3 |
T |
C |
3: 142,272,341 (GRCm39) |
V281A |
probably damaging |
Het |
Gcc2 |
T |
A |
10: 58,107,086 (GRCm39) |
I774K |
probably benign |
Het |
Gpr132 |
A |
C |
12: 112,815,822 (GRCm39) |
C335G |
probably benign |
Het |
Gpr162 |
G |
T |
6: 124,838,355 (GRCm39) |
Y98* |
probably null |
Het |
H2-T24 |
T |
C |
17: 36,325,743 (GRCm39) |
T283A |
possibly damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,186 (GRCm39) |
Y50C |
probably damaging |
Het |
Il4i1 |
A |
G |
7: 44,486,199 (GRCm39) |
N53S |
possibly damaging |
Het |
Iqcf3 |
T |
C |
9: 106,431,425 (GRCm39) |
K60R |
possibly damaging |
Het |
Kif24 |
A |
T |
4: 41,413,993 (GRCm39) |
Y316* |
probably null |
Het |
Krt18 |
A |
G |
15: 101,939,896 (GRCm39) |
K365E |
probably damaging |
Het |
Lrguk |
T |
A |
6: 34,025,870 (GRCm39) |
L222* |
probably null |
Het |
Mbd1 |
T |
G |
18: 74,407,520 (GRCm39) |
V210G |
probably damaging |
Het |
Ms4a6b |
A |
G |
19: 11,499,155 (GRCm39) |
I90V |
not run |
Het |
Muc16 |
A |
G |
9: 18,556,028 (GRCm39) |
S3422P |
unknown |
Het |
Mynn |
G |
A |
3: 30,661,188 (GRCm39) |
W90* |
probably null |
Het |
Or5p5 |
T |
A |
7: 107,414,308 (GRCm39) |
N172K |
probably damaging |
Het |
Pdpr |
T |
A |
8: 111,859,520 (GRCm39) |
H687Q |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,814,227 (GRCm39) |
E4199G |
probably damaging |
Het |
Plekhg5 |
A |
G |
4: 152,192,491 (GRCm39) |
E517G |
probably damaging |
Het |
Pon1 |
C |
T |
6: 5,168,400 (GRCm39) |
V336M |
possibly damaging |
Het |
Pop1 |
T |
A |
15: 34,530,593 (GRCm39) |
L1027Q |
probably damaging |
Het |
Pramel1 |
T |
C |
4: 143,124,993 (GRCm39) |
S306P |
probably damaging |
Het |
Prpsap2 |
A |
T |
11: 61,635,797 (GRCm39) |
F168I |
possibly damaging |
Het |
Rabgap1 |
T |
A |
2: 37,359,444 (GRCm39) |
D2E |
probably damaging |
Het |
Rgmb |
A |
T |
17: 16,027,777 (GRCm39) |
L314Q |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,653,317 (GRCm39) |
|
probably null |
Het |
Samd4b |
A |
T |
7: 28,113,711 (GRCm39) |
S85T |
probably benign |
Het |
Sfrp5 |
T |
C |
19: 42,187,302 (GRCm39) |
D256G |
possibly damaging |
Het |
Slc25a23 |
A |
G |
17: 57,365,106 (GRCm39) |
|
probably null |
Het |
Sox5 |
A |
G |
6: 143,786,905 (GRCm39) |
I589T |
probably damaging |
Het |
Sybu |
T |
A |
15: 44,546,848 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 75,953,616 (GRCm39) |
E515G |
possibly damaging |
Het |
Tbc1d17 |
G |
A |
7: 44,495,503 (GRCm39) |
A107V |
probably benign |
Het |
Tcstv2c |
A |
C |
13: 120,616,290 (GRCm39) |
E43A |
probably damaging |
Het |
Tex50 |
G |
T |
1: 160,984,817 (GRCm39) |
T141K |
possibly damaging |
Het |
Tmc7 |
A |
G |
7: 118,144,979 (GRCm39) |
L527P |
probably benign |
Het |
Tns4 |
T |
A |
11: 98,963,079 (GRCm39) |
D547V |
probably benign |
Het |
Topors |
A |
G |
4: 40,268,312 (GRCm39) |
S65P |
probably damaging |
Het |
Trdc |
T |
A |
14: 54,381,692 (GRCm39) |
S126T |
|
Het |
Ttc27 |
A |
T |
17: 75,024,745 (GRCm39) |
|
probably benign |
Het |
Wdfy3 |
A |
C |
5: 102,083,925 (GRCm39) |
I787S |
probably benign |
Het |
Zc3h11a |
T |
C |
1: 133,554,768 (GRCm39) |
D404G |
possibly damaging |
Het |
Zfp799 |
A |
G |
17: 33,039,534 (GRCm39) |
I244T |
probably benign |
Het |
Zfp93 |
A |
G |
7: 23,974,533 (GRCm39) |
T173A |
probably benign |
Het |
Zfp953 |
T |
A |
13: 67,495,953 (GRCm39) |
L29F |
probably damaging |
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 |
|
R3847:Plxna1
|
UTSW |
6 |
89,333,501 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGAGTAGTGAGCTTCAGGGC -3'
(R):5'- AACATACCTAGCAGGAGCCTTG -3'
Sequencing Primer
(F):5'- TACCCTCCTAGGACCTGGACAG -3'
(R):5'- CTTGGTGCCCTCTGAAGGAAAAC -3'
|
Posted On |
2019-10-17 |