Incidental Mutation 'R1700:Plxna1'
ID |
189647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxna1
|
Ensembl Gene |
ENSMUSG00000030084 |
Gene Name |
plexin A1 |
Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
MMRRC Submission |
039733-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
R1700 (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 89333990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 213
(M213K)
|
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: M213K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063066 Gene: ENSMUSG00000030084 AA Change: M213K
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: M213K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131840 Gene: ENSMUSG00000030084 AA Change: M213K
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,899,537 (GRCm39) |
F936L |
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,152,143 (GRCm39) |
I211N |
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Alas1 |
C |
T |
9: 106,116,845 (GRCm39) |
V293I |
possibly damaging |
Het |
Ap1g1 |
T |
C |
8: 110,580,244 (GRCm39) |
Y569H |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,148,603 (GRCm39) |
D1190G |
probably damaging |
Het |
Astn2 |
G |
A |
4: 65,664,591 (GRCm39) |
Q679* |
probably null |
Het |
Atp2a1 |
T |
A |
7: 126,062,081 (GRCm39) |
H5L |
probably damaging |
Het |
Baiap3 |
T |
C |
17: 25,468,302 (GRCm39) |
K279E |
probably damaging |
Het |
C2cd2l |
G |
A |
9: 44,227,909 (GRCm39) |
P111S |
probably benign |
Het |
C7 |
T |
A |
15: 5,032,274 (GRCm39) |
K646* |
probably null |
Het |
Ccp110 |
C |
T |
7: 118,334,536 (GRCm39) |
T1003I |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 165,012,716 (GRCm39) |
D123G |
probably damaging |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,768,433 (GRCm39) |
V722A |
probably benign |
Het |
Cpsf4l |
A |
G |
11: 113,592,901 (GRCm39) |
F174S |
probably benign |
Het |
Ctnna3 |
T |
C |
10: 63,688,551 (GRCm39) |
C332R |
probably damaging |
Het |
Cxcl10 |
A |
T |
5: 92,495,714 (GRCm39) |
N76K |
probably damaging |
Het |
Dnaaf9 |
G |
A |
2: 130,551,858 (GRCm39) |
L1010F |
probably damaging |
Het |
Dnaja3 |
G |
A |
16: 4,502,029 (GRCm39) |
R11K |
probably null |
Het |
Efcab10 |
A |
G |
12: 33,445,170 (GRCm39) |
T28A |
possibly damaging |
Het |
Esrrg |
A |
G |
1: 187,775,850 (GRCm39) |
R103G |
probably damaging |
Het |
Exosc2 |
A |
G |
2: 31,560,818 (GRCm39) |
K23E |
probably benign |
Het |
Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
Fsip2 |
T |
C |
2: 82,822,081 (GRCm39) |
V5938A |
probably benign |
Het |
Gclc |
A |
G |
9: 77,683,571 (GRCm39) |
T143A |
probably benign |
Het |
Gpr37 |
A |
G |
6: 25,669,623 (GRCm39) |
V407A |
probably benign |
Het |
Gucy2e |
A |
T |
11: 69,122,884 (GRCm39) |
M497K |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,357,960 (GRCm39) |
|
probably null |
Het |
Hnrnpll |
A |
C |
17: 80,341,534 (GRCm39) |
S502A |
probably benign |
Het |
Ipo11 |
G |
T |
13: 106,932,170 (GRCm39) |
T975N |
probably benign |
Het |
Kif17 |
C |
T |
4: 137,990,009 (GRCm39) |
Q66* |
probably null |
Het |
Lrp10 |
T |
C |
14: 54,707,209 (GRCm39) |
V682A |
possibly damaging |
Het |
Lsmem1 |
A |
T |
12: 40,230,677 (GRCm39) |
L75Q |
probably damaging |
Het |
Med16 |
A |
T |
10: 79,735,169 (GRCm39) |
Y430N |
probably benign |
Het |
Med8 |
C |
T |
4: 118,269,931 (GRCm39) |
S72L |
possibly damaging |
Het |
Mex3a |
A |
G |
3: 88,443,682 (GRCm39) |
T253A |
probably damaging |
Het |
Myf6 |
T |
C |
10: 107,329,220 (GRCm39) |
K242E |
probably damaging |
Het |
Ncald |
T |
A |
15: 37,397,587 (GRCm39) |
Y31F |
probably benign |
Het |
Ndufa12 |
T |
A |
10: 94,035,855 (GRCm39) |
Y48N |
probably damaging |
Het |
Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
Or51q1c |
T |
A |
7: 103,653,329 (GRCm39) |
Y282* |
probably null |
Het |
Or5as1 |
T |
G |
2: 86,980,123 (GRCm39) |
N294T |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,610,639 (GRCm39) |
T1858A |
probably benign |
Het |
Pgbd1 |
A |
G |
13: 21,618,651 (GRCm39) |
L2P |
probably damaging |
Het |
Piezo1 |
C |
T |
8: 123,214,241 (GRCm39) |
R1642H |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,965,041 (GRCm39) |
N709S |
probably damaging |
Het |
Pramel1 |
T |
A |
4: 143,124,999 (GRCm39) |
W308R |
probably damaging |
Het |
Prkag2 |
A |
T |
5: 25,076,539 (GRCm39) |
I208N |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rngtt |
T |
A |
4: 33,330,864 (GRCm39) |
F156I |
probably damaging |
Het |
Rpusd3 |
A |
G |
6: 113,392,494 (GRCm39) |
*345Q |
probably null |
Het |
Rrp1b |
A |
G |
17: 32,276,178 (GRCm39) |
K575R |
probably benign |
Het |
Shd |
G |
A |
17: 56,281,307 (GRCm39) |
V250I |
probably damaging |
Het |
Slc12a5 |
C |
A |
2: 164,834,296 (GRCm39) |
N749K |
possibly damaging |
Het |
Sorbs2 |
T |
A |
8: 46,254,021 (GRCm39) |
V488D |
probably damaging |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Srsf4 |
C |
A |
4: 131,627,871 (GRCm39) |
|
probably benign |
Het |
Strn |
T |
C |
17: 78,999,831 (GRCm39) |
Y135C |
probably damaging |
Het |
Synm |
T |
C |
7: 67,409,376 (GRCm39) |
M1V |
probably null |
Het |
Tas1r3 |
T |
G |
4: 155,946,027 (GRCm39) |
Q489P |
probably benign |
Het |
Tas2r103 |
A |
T |
6: 133,013,774 (GRCm39) |
N97K |
probably damaging |
Het |
Tas2r113 |
A |
G |
6: 132,870,755 (GRCm39) |
Y261C |
possibly damaging |
Het |
Tex21 |
T |
C |
12: 76,268,446 (GRCm39) |
E112G |
probably damaging |
Het |
Trappc8 |
T |
C |
18: 20,966,055 (GRCm39) |
S1128G |
probably damaging |
Het |
Ubap1l |
A |
G |
9: 65,279,025 (GRCm39) |
|
probably benign |
Het |
Ubash3a |
A |
G |
17: 31,434,018 (GRCm39) |
D121G |
probably damaging |
Het |
Ubxn4 |
A |
G |
1: 128,180,023 (GRCm39) |
I56V |
possibly damaging |
Het |
Uri1 |
T |
C |
7: 37,662,949 (GRCm39) |
I348M |
probably damaging |
Het |
Usp21 |
C |
A |
1: 171,111,295 (GRCm39) |
L379F |
probably damaging |
Het |
Vmn1r159 |
T |
A |
7: 22,542,390 (GRCm39) |
H214L |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,341,900 (GRCm39) |
E93G |
unknown |
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 |
|
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 |
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'- CCGCACAATCTTGGAGGTGAAGAAG -3'
(R):5'- ACTGCTGGACTATGCAGCCAAC -3'
Sequencing Primer
(F):5'- TGAAGAAGTGCTCGCCAGC -3'
(R):5'- ACGATCTCTTCAAGCTGGG -3'
|
Posted On |
2014-05-14 |