Incidental Mutation 'R7235:Plxna1'
ID |
562759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxna1
|
Ensembl Gene |
ENSMUSG00000030084 |
Gene Name |
plexin A1 |
Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
MMRRC Submission |
045305-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
R7235 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
89293295-89339595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89317573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 680
(Y680H)
|
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: Y680H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000063066 Gene: ENSMUSG00000030084 AA Change: Y680H
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: Y680H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131840 Gene: ENSMUSG00000030084 AA Change: Y680H
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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
98% (61/62) |
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 |
Ahnak |
T |
A |
19: 8,989,852 (GRCm39) |
M3712K |
unknown |
Het |
Bri3bp |
A |
G |
5: 125,518,748 (GRCm39) |
E8G |
unknown |
Het |
Brip1 |
C |
T |
11: 86,029,701 (GRCm39) |
R611Q |
possibly damaging |
Het |
Carm1 |
T |
G |
9: 21,498,701 (GRCm39) |
|
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,939,892 (GRCm39) |
|
probably null |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,821,422 (GRCm39) |
L176H |
probably damaging |
Het |
Clk4 |
A |
G |
11: 51,167,012 (GRCm39) |
D330G |
probably damaging |
Het |
Dcdc2c |
A |
G |
12: 28,520,718 (GRCm39) |
S453P |
|
Het |
Ddx46 |
G |
A |
13: 55,811,053 (GRCm39) |
V550I |
probably benign |
Het |
Dennd1a |
T |
C |
2: 37,691,073 (GRCm39) |
N676D |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,631,893 (GRCm39) |
N1365S |
probably damaging |
Het |
Dsg1b |
T |
C |
18: 20,532,480 (GRCm39) |
V508A |
probably benign |
Het |
Dus2 |
T |
C |
8: 106,742,587 (GRCm39) |
V39A |
possibly damaging |
Het |
Dync1li1 |
T |
C |
9: 114,544,231 (GRCm39) |
V301A |
possibly damaging |
Het |
Efcc1 |
T |
G |
6: 87,730,780 (GRCm39) |
S513A |
probably benign |
Het |
Eif3f |
T |
C |
7: 108,537,295 (GRCm39) |
V167A |
possibly damaging |
Het |
Ephb2 |
A |
G |
4: 136,421,139 (GRCm39) |
Y404H |
probably damaging |
Het |
Eqtn |
A |
T |
4: 94,811,936 (GRCm39) |
D152E |
probably damaging |
Het |
Ercc5 |
A |
C |
1: 44,217,363 (GRCm39) |
K902T |
possibly damaging |
Het |
Erlec1 |
T |
A |
11: 30,900,751 (GRCm39) |
E139V |
possibly damaging |
Het |
Evl |
G |
A |
12: 108,614,719 (GRCm39) |
G38R |
probably damaging |
Het |
Fads2b |
T |
G |
2: 85,330,563 (GRCm39) |
H248P |
probably damaging |
Het |
Foxd2 |
T |
C |
4: 114,765,468 (GRCm39) |
N184S |
unknown |
Het |
Frem3 |
T |
C |
8: 81,417,354 (GRCm39) |
Y2020H |
probably benign |
Het |
Ganc |
T |
C |
2: 120,264,198 (GRCm39) |
F384L |
probably damaging |
Het |
Grin2a |
A |
G |
16: 9,397,129 (GRCm39) |
L986P |
probably damaging |
Het |
Ift140 |
A |
T |
17: 25,239,619 (GRCm39) |
D92V |
possibly damaging |
Het |
Inpp5b |
A |
G |
4: 124,645,185 (GRCm39) |
K158E |
probably benign |
Het |
Iscu |
T |
A |
5: 113,914,943 (GRCm39) |
S152T |
probably benign |
Het |
Isl2 |
C |
T |
9: 55,451,455 (GRCm39) |
T115I |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,996,131 (GRCm39) |
T1542S |
probably benign |
Het |
Kat6a |
A |
G |
8: 23,404,285 (GRCm39) |
D454G |
possibly damaging |
Het |
Kcnj10 |
T |
C |
1: 172,196,993 (GRCm39) |
I169T |
probably damaging |
Het |
Klk12 |
T |
C |
7: 43,422,723 (GRCm39) |
S217P |
probably damaging |
Het |
Lancl1 |
T |
C |
1: 67,077,694 (GRCm39) |
N14S |
probably benign |
Het |
Map2 |
A |
G |
1: 66,453,807 (GRCm39) |
Y899C |
probably damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Nr1h5 |
C |
T |
3: 102,856,358 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
C |
7: 101,774,491 (GRCm39) |
T1515A |
probably damaging |
Het |
Obscn |
A |
C |
11: 58,971,666 (GRCm39) |
V2183G |
probably damaging |
Het |
Or52n2 |
C |
T |
7: 104,541,926 (GRCm39) |
R303Q |
probably benign |
Het |
Osbpl8 |
A |
G |
10: 111,105,288 (GRCm39) |
T248A |
probably benign |
Het |
Pias3 |
T |
A |
3: 96,611,679 (GRCm39) |
S533T |
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pnliprp2 |
A |
G |
19: 58,763,659 (GRCm39) |
N436S |
probably benign |
Het |
Pold1 |
T |
A |
7: 44,191,244 (GRCm39) |
M196L |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,532,127 (GRCm39) |
V1464I |
probably benign |
Het |
Ptk2b |
G |
A |
14: 66,394,536 (GRCm39) |
Q857* |
probably null |
Het |
Qars1 |
T |
A |
9: 108,387,331 (GRCm39) |
L185Q |
probably damaging |
Het |
Rabep1 |
A |
G |
11: 70,831,290 (GRCm39) |
N859S |
probably benign |
Het |
Rnf19b |
A |
G |
4: 128,977,571 (GRCm39) |
H156R |
|
Het |
Sart3 |
T |
C |
5: 113,891,703 (GRCm39) |
Q423R |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
C |
T |
7: 44,930,182 (GRCm39) |
H194Y |
probably damaging |
Het |
Tcf4 |
G |
A |
18: 69,790,866 (GRCm39) |
V420I |
probably damaging |
Het |
Tjp1 |
T |
C |
7: 64,968,321 (GRCm39) |
D701G |
probably benign |
Het |
Trim42 |
T |
C |
9: 97,251,761 (GRCm39) |
D46G |
probably damaging |
Het |
Usp19 |
C |
T |
9: 108,372,123 (GRCm39) |
R429* |
probably null |
Het |
Uxs1 |
T |
C |
1: 43,804,087 (GRCm39) |
N276S |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,588,078 (GRCm39) |
I684V |
probably benign |
Het |
Yars2 |
T |
A |
16: 16,122,556 (GRCm39) |
D307E |
probably benign |
Het |
Zfp934 |
A |
T |
13: 62,665,964 (GRCm39) |
C258S |
|
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 |
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'- TCATAGTATACAACTGGCACCC -3'
(R):5'- GACCATTCTCAATGAGGCCTG -3'
Sequencing Primer
(F):5'- TAGTATACAACTGGCACCCTAGGC -3'
(R):5'- ATTCTCAATGAGGCCTGGGCAG -3'
|
Posted On |
2019-06-26 |