Incidental Mutation 'R9253:Plxna1'
| ID |
701655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxna1
|
| Ensembl Gene |
ENSMUSG00000030084 |
| Gene Name |
plexin A1 |
| Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R9253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
89293295-89339595 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 89334522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 36
(Q36*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049845]
[ENSMUST00000163139]
|
| AlphaFold |
P70206 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049845
AA Change: Q36*
|
| SMART Domains |
Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: Q36*
| 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 null
Transcript: ENSMUST00000163139
AA Change: Q36*
|
| SMART Domains |
Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: Q36*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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 |
|---|
| Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,129,860 (GRCm39) |
I229F |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,467,172 (GRCm39) |
H913R |
possibly damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,965,315 (GRCm39) |
S399C |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,124,779 (GRCm39) |
G501D |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,468,551 (GRCm39) |
T6N |
unknown |
Het |
| Asb18 |
C |
T |
1: 89,882,185 (GRCm39) |
V382I |
probably benign |
Het |
| AU041133 |
T |
C |
10: 81,987,220 (GRCm39) |
I291T |
probably benign |
Het |
| B4galnt2 |
C |
T |
11: 95,759,176 (GRCm39) |
|
silent |
Het |
| Bcl7c |
T |
C |
7: 127,306,403 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,711,083 (GRCm39) |
N375S |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,764,679 (GRCm39) |
Q125R |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,212,759 (GRCm39) |
S108P |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,100,608 (GRCm39) |
T21N |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,978,112 (GRCm39) |
L256F |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,981,503 (GRCm39) |
T29I |
probably benign |
Het |
| Coq4 |
A |
T |
2: 29,685,433 (GRCm39) |
D149V |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,769,698 (GRCm39) |
L91S |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,397 (GRCm39) |
D559V |
probably damaging |
Het |
| Gm4779 |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
X: 100,836,917 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,676,407 (GRCm39) |
V12E |
probably damaging |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,378 (GRCm39) |
S146P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,423 (GRCm39) |
V236A |
probably benign |
Het |
| Hjv |
T |
C |
3: 96,435,710 (GRCm39) |
S323P |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,796,645 (GRCm39) |
C215Y |
probably damaging |
Het |
| L3mbtl1 |
G |
T |
2: 162,789,632 (GRCm39) |
A57S |
probably benign |
Het |
| Lilrb4b |
G |
A |
10: 51,357,863 (GRCm39) |
V186I |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,132,823 (GRCm39) |
V1213A |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,935,172 (GRCm39) |
E1532G |
probably damaging |
Het |
| Mcm6 |
T |
C |
1: 128,279,264 (GRCm39) |
Y174C |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,261,239 (GRCm39) |
V178E |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,074,359 (GRCm39) |
I174F |
|
Het |
| Ndufv1 |
G |
T |
19: 4,059,412 (GRCm39) |
A211E |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nrp1 |
T |
C |
8: 129,229,144 (GRCm39) |
V874A |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,804,142 (GRCm39) |
G197S |
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,983,637 (GRCm39) |
H241L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,822 (GRCm39) |
M246T |
probably damaging |
Het |
| Pacs2 |
A |
G |
12: 113,014,137 (GRCm39) |
D196G |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,351,012 (GRCm39) |
D118G |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,529 (GRCm39) |
|
probably benign |
Het |
| Pgk2 |
C |
T |
17: 40,519,233 (GRCm39) |
G65D |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,970,460 (GRCm39) |
D193G |
probably benign |
Het |
| Plcl2 |
T |
G |
17: 50,915,127 (GRCm39) |
M712R |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,052,015 (GRCm39) |
V68A |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,493,224 (GRCm39) |
I1069V |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,111,973 (GRCm39) |
T200A |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,621 (GRCm39) |
V3D |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,855,205 (GRCm39) |
M293T |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,680,913 (GRCm39) |
R72G |
probably benign |
Het |
| Smarca5 |
A |
C |
8: 81,446,344 (GRCm39) |
L452W |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,416,377 (GRCm39) |
K952E |
probably damaging |
Het |
| Synpo2l |
G |
T |
14: 20,716,738 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Tmem174 |
T |
C |
13: 98,773,803 (GRCm39) |
E9G |
possibly damaging |
Het |
| Tmem270 |
T |
C |
5: 134,930,644 (GRCm39) |
T206A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,562,951 (GRCm39) |
T28668S |
possibly damaging |
Het |
| Vmn1r118 |
A |
T |
7: 20,645,817 (GRCm39) |
S152R |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,816,960 (GRCm39) |
Q207L |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,582 (GRCm39) |
S824R |
probably damaging |
Het |
| Vps54 |
G |
A |
11: 21,258,771 (GRCm39) |
V733I |
probably benign |
Het |
| Zfp518b |
G |
T |
5: 38,829,601 (GRCm39) |
D801E |
probably benign |
Het |
| Zgrf1 |
C |
A |
3: 127,392,428 (GRCm39) |
P1316Q |
probably damaging |
Het |
| Zzef1 |
C |
A |
11: 72,739,463 (GRCm39) |
|
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 |
|
|
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 |
|
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'- CAGTAGAAGCTTGTTGACGTTG -3'
(R):5'- ACCCAATCCCATGATGCTCG -3'
Sequencing Primer
(F):5'- CATGTGGGCAGGACTGTACAC -3'
(R):5'- GCCCCTATAGGACCTGAATACTTTGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation