Incidental Mutation 'R7511:Plxna1'
| ID |
582092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxna1
|
| Ensembl Gene |
ENSMUSG00000030084 |
| Gene Name |
plexin A1 |
| Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
| MMRRC Submission |
045584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R7511 (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 89318889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 645
(T645A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000049845
AA Change: T645A
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: T645A
| 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 |
possibly damaging
Transcript: ENSMUST00000163139
AA Change: T645A
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: T645A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,189,954 (GRCm39) |
K327E |
probably damaging |
Het |
| Adamts14 |
G |
A |
10: 61,054,307 (GRCm39) |
A572V |
possibly damaging |
Het |
| Add2 |
A |
G |
6: 86,075,597 (GRCm39) |
N249D |
probably benign |
Het |
| Adgrb2 |
A |
T |
4: 129,915,904 (GRCm39) |
M1503L |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,586,407 (GRCm39) |
K421E |
unknown |
Het |
| B3galt5 |
A |
G |
16: 96,116,916 (GRCm39) |
K183R |
possibly damaging |
Het |
| Braf |
T |
C |
6: 39,665,187 (GRCm39) |
I94M |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,294,311 (GRCm39) |
E1158G |
possibly damaging |
Het |
| Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
| Ccdc38 |
C |
A |
10: 93,398,662 (GRCm39) |
L147I |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,886,130 (GRCm39) |
N210D |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,925,583 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,202,525 (GRCm39) |
Y338N |
probably damaging |
Het |
| Crlf3 |
A |
C |
11: 79,954,812 (GRCm39) |
|
probably null |
Het |
| Crnn |
A |
T |
3: 93,056,723 (GRCm39) |
K503M |
probably damaging |
Het |
| Cul5 |
T |
A |
9: 53,537,269 (GRCm39) |
N521I |
probably damaging |
Het |
| Cyp2c50 |
T |
A |
19: 40,080,634 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,337,042 (GRCm39) |
H23R |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,949,519 (GRCm39) |
L441H |
|
Het |
| Dock7 |
C |
A |
4: 98,967,992 (GRCm39) |
E162* |
probably null |
Het |
| Dpp9 |
A |
T |
17: 56,512,611 (GRCm39) |
M174K |
possibly damaging |
Het |
| Dtd1 |
A |
G |
2: 144,459,147 (GRCm39) |
D57G |
probably benign |
Het |
| F3 |
A |
G |
3: 121,525,206 (GRCm39) |
E149G |
probably damaging |
Het |
| Glp2r |
C |
T |
11: 67,648,417 (GRCm39) |
R95K |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,358 (GRCm39) |
F273L |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,174,451 (GRCm39) |
I647F |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,926,217 (GRCm39) |
I1878S |
possibly damaging |
Het |
| Hsf2 |
G |
T |
10: 57,380,653 (GRCm39) |
C230F |
probably benign |
Het |
| Igfbp2 |
T |
G |
1: 72,891,164 (GRCm39) |
M254R |
probably damaging |
Het |
| Kifc2 |
C |
A |
15: 76,545,537 (GRCm39) |
Q95K |
possibly damaging |
Het |
| Lnx1 |
T |
G |
5: 74,780,972 (GRCm39) |
N183T |
probably benign |
Het |
| Ltn1 |
G |
T |
16: 87,205,716 (GRCm39) |
T983K |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,367,093 (GRCm39) |
V2556D |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
| Mtmr12 |
T |
G |
15: 12,265,681 (GRCm39) |
Y466D |
possibly damaging |
Het |
| Musk |
A |
G |
4: 58,333,672 (GRCm39) |
I256V |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,452,338 (GRCm39) |
F43S |
probably damaging |
Het |
| Or10g9b |
A |
T |
9: 39,918,229 (GRCm39) |
S5R |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,713 (GRCm39) |
L206P |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,390,249 (GRCm39) |
A132T |
probably damaging |
Het |
| Pak5 |
G |
A |
2: 135,925,244 (GRCm39) |
S686F |
possibly damaging |
Het |
| Pi4kb |
T |
C |
3: 94,896,623 (GRCm39) |
S307P |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,191,614 (GRCm39) |
R124K |
possibly damaging |
Het |
| Pramel27 |
T |
A |
4: 143,573,116 (GRCm39) |
I3N |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,289,777 (GRCm39) |
Y1153H |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,391,693 (GRCm39) |
N947S |
possibly damaging |
Het |
| Rad54b |
A |
G |
4: 11,578,956 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
A |
G |
10: 81,335,623 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,432,269 (GRCm39) |
K760E |
probably benign |
Het |
| Sergef |
T |
A |
7: 46,264,170 (GRCm39) |
N239I |
probably damaging |
Het |
| Serpinb9 |
C |
A |
13: 33,192,054 (GRCm39) |
N78K |
probably benign |
Het |
| Sntb1 |
G |
T |
15: 55,511,347 (GRCm39) |
F412L |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,032,108 (GRCm39) |
F294L |
probably damaging |
Het |
| Ttll11 |
G |
A |
2: 35,793,046 (GRCm39) |
R266C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,624,882 (GRCm39) |
M15232K |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,584,793 (GRCm39) |
I547M |
probably benign |
Het |
| Vgf |
C |
A |
5: 137,060,245 (GRCm39) |
P136T |
unknown |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,914 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,901,405 (GRCm39) |
S511P |
probably damaging |
Het |
| Wdr27 |
C |
T |
17: 15,103,965 (GRCm39) |
V714I |
probably benign |
Het |
| Zbed6 |
T |
A |
1: 133,586,981 (GRCm39) |
I119L |
probably benign |
Het |
| Zfp229 |
A |
G |
17: 21,964,045 (GRCm39) |
S92G |
probably benign |
Het |
| Zfp710 |
C |
T |
7: 79,732,250 (GRCm39) |
Q476* |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,320,637 (GRCm39) |
N622S |
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 |
|
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 |
|
|
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'- TAGCTCTTCAACTGGCAGGC -3'
(R):5'- ATTCCTTACTGGCCAGTTAAGG -3'
Sequencing Primer
(F):5'- CAACTGGCAGGCTGCTTTTG -3'
(R):5'- TTAAGGATGGGGCATCAGCTACC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation