Incidental Mutation 'R8025:Plxna1'
ID |
617643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxna1
|
Ensembl Gene |
ENSMUSG00000030084 |
Gene Name |
plexin A1 |
Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
MMRRC Submission |
067464-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.895)
|
Stock # |
R8025 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
89293295-89339595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89308254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1278
(R1278W)
|
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: R1278W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063066 Gene: ENSMUSG00000030084 AA Change: R1278W
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: R1278W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131840 Gene: ENSMUSG00000030084 AA Change: R1278W
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: ENSMUST00000205121
|
Meta Mutation Damage Score |
0.6969 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
T |
G |
3: 79,536,635 (GRCm39) |
L51R |
probably damaging |
Het |
Actl7b |
T |
C |
4: 56,741,137 (GRCm39) |
T74A |
probably damaging |
Het |
Aip |
C |
A |
19: 4,165,346 (GRCm39) |
A207S |
probably benign |
Het |
AL732309.1 |
A |
G |
2: 25,136,331 (GRCm39) |
|
probably benign |
Het |
Apcdd1 |
G |
T |
18: 63,069,979 (GRCm39) |
C82F |
probably damaging |
Het |
Arhgap42 |
T |
G |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
Baz1a |
A |
T |
12: 54,955,921 (GRCm39) |
I1056N |
probably benign |
Het |
Bzw2 |
T |
C |
12: 36,157,517 (GRCm39) |
E316G |
probably damaging |
Het |
Carns1 |
A |
T |
19: 4,216,505 (GRCm39) |
I559N |
probably damaging |
Het |
Chrnb2 |
A |
T |
3: 89,668,649 (GRCm39) |
V222E |
probably damaging |
Het |
Cngb3 |
A |
T |
4: 19,280,960 (GRCm39) |
N10Y |
possibly damaging |
Het |
Dennd1b |
A |
G |
1: 139,038,158 (GRCm39) |
K267E |
|
Het |
Dhx32 |
A |
G |
7: 133,323,100 (GRCm39) |
Y705H |
probably damaging |
Het |
Dnah7c |
G |
A |
1: 46,496,456 (GRCm39) |
V114I |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,960,311 (GRCm39) |
C2229* |
probably null |
Het |
Dync2i2 |
T |
C |
2: 29,938,730 (GRCm39) |
Q51R |
probably benign |
Het |
Gm14401 |
T |
C |
2: 176,778,249 (GRCm39) |
F112L |
probably damaging |
Het |
Gm57858 |
C |
A |
3: 36,073,136 (GRCm39) |
R382L |
probably damaging |
Het |
Habp4 |
G |
A |
13: 64,322,645 (GRCm39) |
R238H |
probably benign |
Het |
Herpud1 |
A |
G |
8: 95,119,149 (GRCm39) |
Y301C |
probably damaging |
Het |
Itih5 |
G |
A |
2: 10,245,833 (GRCm39) |
A641T |
probably benign |
Het |
Kcns3 |
A |
T |
12: 11,141,846 (GRCm39) |
N284K |
probably damaging |
Het |
Mcrs1 |
G |
A |
15: 99,144,814 (GRCm39) |
Q267* |
probably null |
Het |
Midn |
G |
A |
10: 79,991,126 (GRCm39) |
A379T |
probably benign |
Het |
Muc21 |
GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA |
GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA |
17: 35,931,879 (GRCm39) |
|
probably benign |
Het |
Odad2 |
A |
T |
18: 7,127,224 (GRCm39) |
N996K |
probably benign |
Het |
Or2d36 |
A |
G |
7: 106,746,930 (GRCm39) |
M136V |
possibly damaging |
Het |
Or4d2b |
A |
T |
11: 87,779,777 (GRCm39) |
|
probably null |
Het |
Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
Or5m11 |
A |
T |
2: 85,781,856 (GRCm39) |
I150F |
probably benign |
Het |
Or7e175 |
T |
C |
9: 20,048,928 (GRCm39) |
V172A |
probably benign |
Het |
Parpbp |
T |
C |
10: 87,928,970 (GRCm39) |
D490G |
probably benign |
Het |
Pcbp2 |
T |
A |
15: 102,396,711 (GRCm39) |
S262R |
probably benign |
Het |
Pcdhgc5 |
T |
C |
18: 37,953,992 (GRCm39) |
I422T |
possibly damaging |
Het |
Pcsk5 |
T |
A |
19: 17,538,415 (GRCm39) |
|
probably benign |
Het |
Polr1c |
A |
G |
17: 46,555,974 (GRCm39) |
L162P |
probably damaging |
Het |
Rasl2-9 |
A |
G |
7: 5,128,481 (GRCm39) |
S150P |
probably damaging |
Het |
Raver2 |
C |
A |
4: 100,960,162 (GRCm39) |
S214* |
probably null |
Het |
Rbpjl |
C |
A |
2: 164,252,166 (GRCm39) |
|
probably benign |
Het |
Rec114 |
T |
G |
9: 58,567,605 (GRCm39) |
E127A |
possibly damaging |
Het |
Recql5 |
C |
A |
11: 115,818,938 (GRCm39) |
L209F |
probably damaging |
Het |
Rgs11 |
T |
C |
17: 26,423,359 (GRCm39) |
|
probably null |
Het |
Rgs3 |
C |
A |
4: 62,608,831 (GRCm39) |
H366N |
probably damaging |
Het |
Rnf148 |
C |
T |
6: 23,654,196 (GRCm39) |
D267N |
possibly damaging |
Het |
Scn1a |
T |
C |
2: 66,148,557 (GRCm39) |
N1007S |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,393,022 (GRCm39) |
T220A |
probably benign |
Het |
Sema5a |
A |
G |
15: 32,548,928 (GRCm39) |
N134S |
probably benign |
Het |
Smg1 |
G |
A |
7: 117,806,212 (GRCm39) |
Q210* |
probably null |
Het |
Snx7 |
A |
G |
3: 117,626,526 (GRCm39) |
V328A |
probably benign |
Het |
Sult1c2 |
A |
T |
17: 54,138,837 (GRCm39) |
S247T |
probably benign |
Het |
Tceanc2 |
C |
T |
4: 106,996,997 (GRCm39) |
|
probably null |
Het |
Tead3 |
T |
C |
17: 28,554,009 (GRCm39) |
D141G |
probably benign |
Het |
Tlcd5 |
T |
A |
9: 43,022,848 (GRCm39) |
T169S |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,546,270 (GRCm39) |
M692T |
probably damaging |
Het |
Vmn1r188 |
T |
C |
13: 22,272,084 (GRCm39) |
F13L |
probably benign |
Het |
Vmn2r3 |
A |
G |
3: 64,182,871 (GRCm39) |
V276A |
possibly damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,076,183 (GRCm39) |
I443T |
probably benign |
Het |
Vps33a |
T |
C |
5: 123,696,738 (GRCm39) |
N305S |
possibly damaging |
Het |
Vps33b |
A |
T |
7: 79,940,094 (GRCm39) |
|
probably benign |
Het |
Wdr72 |
T |
A |
9: 74,050,781 (GRCm39) |
M91K |
probably benign |
Het |
Xylb |
T |
C |
9: 119,210,569 (GRCm39) |
F351L |
probably damaging |
Het |
Zan |
C |
T |
5: 137,404,614 (GRCm39) |
D3883N |
unknown |
Het |
Zfp82 |
T |
A |
7: 29,756,278 (GRCm39) |
H268L |
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 |
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 |
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'- GGTCCTTTTACCAGTGGGAC -3'
(R):5'- GATGCCCTCTGAGTACCTCTAC -3'
Sequencing Primer
(F):5'- TTACCAGTGGGACGATTCTGCC -3'
(R):5'- TACTCCATCTGGCAGGTGC -3'
|
Posted On |
2020-01-23 |