Incidental Mutation 'IGL01694:Plxna3'
| ID |
104199 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plxna3
|
| Ensembl Gene |
ENSMUSG00000031398 |
| Gene Name |
plexin A3 |
| Synonyms |
PlexA3, Plxa3, Plxn4, Plxn3, SEX |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.443)
|
| Stock # |
IGL01694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
73372672-73388295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73382114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1291
(D1291E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004326]
|
| AlphaFold |
P70208 |
| PDB Structure |
Crystal strucure of mouse Plexin A3 intracellular domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004326
AA Change: D1291E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004326
Gene: ENSMUSG00000031398
AA Change: D1291E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Sema
|
34 |
473 |
1.81e-129 |
SMART |
|
PSI
|
491 |
541 |
2.26e-11 |
SMART |
|
PSI
|
638 |
685 |
3.62e-10 |
SMART |
|
PSI
|
786 |
839 |
4.03e-8 |
SMART |
|
IPT
|
840 |
934 |
8.07e-23 |
SMART |
|
IPT
|
935 |
1021 |
2.99e-17 |
SMART |
|
IPT
|
1023 |
1123 |
4.19e-21 |
SMART |
|
IPT
|
1125 |
1220 |
1.49e-3 |
SMART |
|
transmembrane domain
|
1221 |
1243 |
N/A |
INTRINSIC |
|
Pfam:Plexin_cytopl
|
1294 |
1842 |
2.8e-253 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154062
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system. This gene may be associated with tumor progression. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene possess misdirected axons in the hippocampus. They are, otherwise, indistinguishable from wild-type mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
| Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
| Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
| Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
| Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
| Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
| Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
| Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
| Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
| Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
| Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
Het |
|
| Other mutations in Plxna3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Plxna3
|
APN |
X |
73,379,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01509:Plxna3
|
APN |
X |
73,376,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01511:Plxna3
|
APN |
X |
73,378,914 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02511:Plxna3
|
APN |
X |
73,378,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1544:Plxna3
|
UTSW |
X |
73,383,772 (GRCm39) |
splice site |
probably null |
|
|
R2872:Plxna3
|
UTSW |
X |
73,383,002 (GRCm39) |
splice site |
probably benign |
|
|
R2874:Plxna3
|
UTSW |
X |
73,383,002 (GRCm39) |
splice site |
probably benign |
|
|
R4672:Plxna3
|
UTSW |
X |
73,382,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4673:Plxna3
|
UTSW |
X |
73,382,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Plxna3
|
UTSW |
X |
73,379,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation