Incidental Mutation 'R5743:Plxna1'
| ID |
445663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxna1
|
| Ensembl Gene |
ENSMUSG00000030084 |
| Gene Name |
plexin A1 |
| Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
| MMRRC Submission |
043353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R5743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
89293295-89339595 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89333511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 373
(S373T)
|
| 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: S373T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: S373T
| 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: S373T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: S373T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,416,536 (GRCm39) |
|
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,391,629 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
T |
A |
9: 51,728,027 (GRCm39) |
M80K |
probably benign |
Het |
| Arhgap29 |
T |
G |
3: 121,775,560 (GRCm39) |
L37R |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,463,759 (GRCm39) |
P906S |
probably benign |
Het |
| Caskin2 |
T |
A |
11: 115,693,115 (GRCm39) |
N603I |
possibly damaging |
Het |
| Catspere2 |
G |
T |
1: 177,950,328 (GRCm39) |
|
silent |
Het |
| Ccdc159 |
A |
T |
9: 21,840,686 (GRCm39) |
E84D |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,067,712 (GRCm39) |
S73R |
possibly damaging |
Het |
| Cdh20 |
G |
T |
1: 110,036,575 (GRCm39) |
C585F |
probably damaging |
Het |
| Cga |
T |
C |
4: 34,904,108 (GRCm39) |
|
probably null |
Het |
| Coq5 |
A |
C |
5: 115,417,941 (GRCm39) |
E57A |
probably benign |
Het |
| Cstf1 |
T |
A |
2: 172,219,753 (GRCm39) |
L288Q |
probably damaging |
Het |
| Ctsll3 |
G |
T |
13: 60,948,815 (GRCm39) |
Q47K |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,420,803 (GRCm39) |
Q539L |
probably benign |
Het |
| Fbxo46 |
C |
A |
7: 18,870,420 (GRCm39) |
D346E |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,407 (GRCm39) |
T1567S |
probably damaging |
Het |
| Glce |
T |
A |
9: 61,977,822 (GRCm39) |
T21S |
probably damaging |
Het |
| Gm19402 |
C |
T |
10: 77,526,516 (GRCm39) |
D26N |
probably damaging |
Het |
| Gm20830 |
A |
G |
Y: 6,916,664 (GRCm39) |
Y152H |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,784 (GRCm39) |
Y1011H |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Il31ra |
G |
T |
13: 112,664,021 (GRCm39) |
T552K |
possibly damaging |
Het |
| Itga2 |
A |
G |
13: 115,021,042 (GRCm39) |
V86A |
probably damaging |
Het |
| Kcnk4 |
A |
T |
19: 6,905,723 (GRCm39) |
N81K |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,297,221 (GRCm39) |
D3247Y |
probably damaging |
Het |
| Maml3 |
G |
T |
3: 52,011,553 (GRCm39) |
F4L |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,256,072 (GRCm39) |
H37L |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,339,425 (GRCm39) |
M1V |
probably null |
Het |
| Myom2 |
A |
T |
8: 15,130,914 (GRCm39) |
K283N |
possibly damaging |
Het |
| Nrxn1 |
C |
A |
17: 90,950,652 (GRCm39) |
R509L |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,736 (GRCm39) |
Y30F |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,363 (GRCm39) |
|
probably null |
Het |
| Or8c13 |
C |
A |
9: 38,092,014 (GRCm39) |
C35F |
probably benign |
Het |
| Or8h8 |
C |
A |
2: 86,753,549 (GRCm39) |
G109V |
probably benign |
Het |
| Orc6 |
A |
T |
8: 86,029,585 (GRCm39) |
Q43L |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,692,862 (GRCm39) |
S874L |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,160 (GRCm39) |
D670G |
probably damaging |
Het |
| Pcdhga9 |
A |
T |
18: 37,871,859 (GRCm39) |
I563F |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,841,836 (GRCm39) |
D190G |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,411,314 (GRCm39) |
Y280N |
probably damaging |
Het |
| Rasl10a |
T |
A |
11: 5,009,519 (GRCm39) |
D102E |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,121,110 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,478,846 (GRCm39) |
W557R |
probably damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,520 (GRCm39) |
L198H |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,379 (GRCm39) |
T429K |
probably benign |
Het |
| Slc35f1 |
T |
G |
10: 52,965,546 (GRCm39) |
D320E |
probably benign |
Het |
| Smug1 |
C |
A |
15: 103,066,043 (GRCm39) |
|
probably null |
Het |
| Spata31f3 |
G |
A |
4: 42,873,087 (GRCm39) |
T68I |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,512 (GRCm39) |
Y311* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,096,223 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Tmem130 |
A |
G |
5: 144,687,749 (GRCm39) |
S196P |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,535 (GRCm39) |
C176* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,169,159 (GRCm39) |
H1100R |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,957 (GRCm39) |
F151L |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,396,234 (GRCm39) |
T538A |
possibly damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,651,380 (GRCm39) |
C638* |
probably null |
Het |
| Zfp128 |
C |
T |
7: 12,618,654 (GRCm39) |
R51C |
probably damaging |
Het |
| Zfp141 |
T |
G |
7: 42,125,855 (GRCm39) |
I206L |
possibly damaging |
Het |
| Zfp369 |
G |
T |
13: 65,443,494 (GRCm39) |
K324N |
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 |
|
|
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 |
|
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 |
2016-11-21 |
Incidental Mutation