Incidental Mutation 'R8273:Plxnc1'
| ID |
637860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plxnc1
|
| Ensembl Gene |
ENSMUSG00000074785 |
| Gene Name |
plexin C1 |
| Synonyms |
2510048K12Rik, vespr, CD232 |
| MMRRC Submission |
067696-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.472)
|
| Stock # |
R8273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
94626728-94780697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94649105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1225
(N1225D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099337]
|
| AlphaFold |
Q9QZC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099337
AA Change: N1225D
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
AA Change: N1225D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
87 |
431 |
5.5e-10 |
PFAM |
|
PSI
|
454 |
507 |
5.28e-12 |
SMART |
|
PSI
|
590 |
634 |
1.07e-3 |
SMART |
|
Pfam:TIG
|
665 |
752 |
3.7e-9 |
PFAM |
|
IPT
|
755 |
847 |
5.14e-7 |
SMART |
|
IPT
|
849 |
954 |
1.8e-2 |
SMART |
|
low complexity region
|
978 |
997 |
N/A |
INTRINSIC |
|
Pfam:Plexin_cytopl
|
1018 |
1541 |
1.4e-199 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (62/63) |
| 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 family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron morphology and migration. [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 |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,211 (GRCm39) |
V467I |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,575,668 (GRCm39) |
G167E |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,959,683 (GRCm39) |
V648M |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,112,990 (GRCm39) |
C954R |
unknown |
Het |
| Atp13a4 |
T |
G |
16: 29,290,720 (GRCm39) |
Y243S |
|
Het |
| Bend3 |
T |
G |
10: 43,386,899 (GRCm39) |
C431G |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,812,599 (GRCm39) |
R52C |
probably damaging |
Het |
| Ccl22 |
T |
C |
8: 95,473,619 (GRCm39) |
W55R |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,152,758 (GRCm39) |
Y25C |
probably damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,499,271 (GRCm39) |
P1174S |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,946,546 (GRCm39) |
|
probably null |
Het |
| Copg2 |
C |
T |
6: 30,793,061 (GRCm39) |
V425M |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,172,664 (GRCm39) |
T265S |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,053,582 (GRCm39) |
E2936G |
probably benign |
Het |
| Dync2i2 |
A |
T |
2: 29,921,903 (GRCm39) |
V486D |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,499,096 (GRCm39) |
D324G |
probably benign |
Het |
| F11 |
T |
A |
8: 45,701,644 (GRCm39) |
H363L |
possibly damaging |
Het |
| F7 |
T |
C |
8: 13,083,981 (GRCm39) |
V222A |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,594,093 (GRCm39) |
D366G |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Flot2 |
A |
G |
11: 77,950,021 (GRCm39) |
I417V |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,077,525 (GRCm39) |
F295S |
probably damaging |
Het |
| Gpr89 |
G |
A |
3: 96,812,505 (GRCm39) |
T12I |
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,507,370 (GRCm39) |
D53G |
probably benign |
Het |
| Gtf2e1 |
T |
A |
16: 37,343,213 (GRCm39) |
I184F |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,454,474 (GRCm39) |
R152H |
probably benign |
Het |
| Haus3 |
A |
G |
5: 34,311,435 (GRCm39) |
F532L |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,407,520 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,953,080 (GRCm39) |
L150Q |
possibly damaging |
Het |
| Lzts3 |
C |
T |
2: 130,476,801 (GRCm39) |
R549Q |
possibly damaging |
Het |
| Mbd5 |
T |
A |
2: 49,168,891 (GRCm39) |
L1354Q |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,043,815 (GRCm39) |
D801G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,795 (GRCm39) |
T1411S |
unknown |
Het |
| Nalcn |
C |
A |
14: 123,554,436 (GRCm39) |
G954C |
probably damaging |
Het |
| Nlrp9b |
G |
A |
7: 19,757,986 (GRCm39) |
E408K |
possibly damaging |
Het |
| Oaz3 |
A |
G |
3: 94,342,434 (GRCm39) |
L119P |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,377 (GRCm39) |
F39L |
probably damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,280,009 (GRCm39) |
Y758N |
probably benign |
Het |
| Pea15a |
T |
A |
1: 172,026,812 (GRCm39) |
H65L |
probably damaging |
Het |
| Pigm |
T |
A |
1: 172,205,524 (GRCm39) |
I420N |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,803 (GRCm39) |
F580L |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,607,644 (GRCm39) |
|
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,589,547 (GRCm39) |
D412N |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,149 (GRCm39) |
Y897H |
possibly damaging |
Het |
| Scube2 |
A |
T |
7: 109,408,383 (GRCm39) |
F688Y |
probably benign |
Het |
| Sgo2b |
C |
A |
8: 64,377,735 (GRCm39) |
R1166L |
unknown |
Het |
| Slc12a2 |
G |
T |
18: 58,047,338 (GRCm39) |
|
probably benign |
Het |
| Smpdl3b |
T |
A |
4: 132,465,712 (GRCm39) |
H236L |
probably damaging |
Het |
| Spata9 |
C |
A |
13: 76,125,666 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,477,667 (GRCm39) |
|
probably benign |
Het |
| Stc2 |
T |
A |
11: 31,319,777 (GRCm39) |
N29I |
possibly damaging |
Het |
| Sun5 |
A |
T |
2: 153,707,243 (GRCm39) |
M145K |
possibly damaging |
Het |
| Tas2r106 |
T |
C |
6: 131,655,018 (GRCm39) |
I278V |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,727,975 (GRCm39) |
I565M |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,910,853 (GRCm39) |
K79R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,737,721 (GRCm39) |
Y4319N |
unknown |
Het |
| Usp28 |
T |
C |
9: 48,938,182 (GRCm39) |
L584P |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,049,838 (GRCm39) |
S777P |
probably benign |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,244,562 (GRCm39) |
Y270H |
probably damaging |
Het |
| Zfp318 |
G |
A |
17: 46,723,301 (GRCm39) |
C1768Y |
probably damaging |
Het |
|
| Other mutations in Plxnc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Plxnc1
|
APN |
10 |
94,683,411 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01285:Plxnc1
|
APN |
10 |
94,635,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01867:Plxnc1
|
APN |
10 |
94,634,008 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01994:Plxnc1
|
APN |
10 |
94,685,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02083:Plxnc1
|
APN |
10 |
94,758,587 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02250:Plxnc1
|
APN |
10 |
94,706,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02429:Plxnc1
|
APN |
10 |
94,718,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02752:Plxnc1
|
APN |
10 |
94,630,542 (GRCm39) |
splice site |
probably null |
|
|
IGL02973:Plxnc1
|
APN |
10 |
94,646,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Plxnc1
|
UTSW |
10 |
94,635,209 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0265:Plxnc1
|
UTSW |
10 |
94,648,991 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0271:Plxnc1
|
UTSW |
10 |
94,673,780 (GRCm39) |
missense |
probably null |
1.00 |
|
R0299:Plxnc1
|
UTSW |
10 |
94,685,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0361:Plxnc1
|
UTSW |
10 |
94,700,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Plxnc1
|
UTSW |
10 |
94,632,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Plxnc1
|
UTSW |
10 |
94,673,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Plxnc1
|
UTSW |
10 |
94,635,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Plxnc1
|
UTSW |
10 |
94,635,194 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0692:Plxnc1
|
UTSW |
10 |
94,673,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0751:Plxnc1
|
UTSW |
10 |
94,667,195 (GRCm39) |
splice site |
probably benign |
|
|
R1184:Plxnc1
|
UTSW |
10 |
94,667,195 (GRCm39) |
splice site |
probably benign |
|
|
R1260:Plxnc1
|
UTSW |
10 |
94,667,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1680:Plxnc1
|
UTSW |
10 |
94,677,413 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1746:Plxnc1
|
UTSW |
10 |
94,680,041 (GRCm39) |
splice site |
probably null |
|
|
R1750:Plxnc1
|
UTSW |
10 |
94,635,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Plxnc1
|
UTSW |
10 |
94,685,677 (GRCm39) |
unclassified |
probably benign |
|
|
R1768:Plxnc1
|
UTSW |
10 |
94,680,184 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1876:Plxnc1
|
UTSW |
10 |
94,702,803 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2004:Plxnc1
|
UTSW |
10 |
94,688,484 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2031:Plxnc1
|
UTSW |
10 |
94,779,529 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2184:Plxnc1
|
UTSW |
10 |
94,780,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Plxnc1
|
UTSW |
10 |
94,742,395 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2927:Plxnc1
|
UTSW |
10 |
94,629,154 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3001:Plxnc1
|
UTSW |
10 |
94,629,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3002:Plxnc1
|
UTSW |
10 |
94,629,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3003:Plxnc1
|
UTSW |
10 |
94,629,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3441:Plxnc1
|
UTSW |
10 |
94,706,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3849:Plxnc1
|
UTSW |
10 |
94,630,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3884:Plxnc1
|
UTSW |
10 |
94,746,549 (GRCm39) |
splice site |
probably null |
|
|
R4004:Plxnc1
|
UTSW |
10 |
94,630,459 (GRCm39) |
nonsense |
probably null |
|
|
R4679:Plxnc1
|
UTSW |
10 |
94,630,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Plxnc1
|
UTSW |
10 |
94,703,330 (GRCm39) |
intron |
probably benign |
|
|
R4937:Plxnc1
|
UTSW |
10 |
94,677,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Plxnc1
|
UTSW |
10 |
94,635,239 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5345:Plxnc1
|
UTSW |
10 |
94,685,831 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5397:Plxnc1
|
UTSW |
10 |
94,679,614 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5416:Plxnc1
|
UTSW |
10 |
94,673,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5485:Plxnc1
|
UTSW |
10 |
94,758,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5543:Plxnc1
|
UTSW |
10 |
94,700,636 (GRCm39) |
missense |
probably benign |
|
|
R5826:Plxnc1
|
UTSW |
10 |
94,635,335 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6007:Plxnc1
|
UTSW |
10 |
94,629,152 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6018:Plxnc1
|
UTSW |
10 |
94,779,710 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6052:Plxnc1
|
UTSW |
10 |
94,779,635 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6291:Plxnc1
|
UTSW |
10 |
94,669,504 (GRCm39) |
splice site |
probably null |
|
|
R6653:Plxnc1
|
UTSW |
10 |
94,779,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Plxnc1
|
UTSW |
10 |
94,667,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Plxnc1
|
UTSW |
10 |
94,667,297 (GRCm39) |
missense |
probably benign |
|
|
R7401:Plxnc1
|
UTSW |
10 |
94,706,867 (GRCm39) |
missense |
probably benign |
|
|
R7727:Plxnc1
|
UTSW |
10 |
94,779,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Plxnc1
|
UTSW |
10 |
94,630,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Plxnc1
|
UTSW |
10 |
94,779,377 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7809:Plxnc1
|
UTSW |
10 |
94,630,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Plxnc1
|
UTSW |
10 |
94,679,698 (GRCm39) |
missense |
probably benign |
|
|
R8103:Plxnc1
|
UTSW |
10 |
94,706,944 (GRCm39) |
missense |
probably benign |
|
|
R8226:Plxnc1
|
UTSW |
10 |
94,669,230 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8299:Plxnc1
|
UTSW |
10 |
94,663,041 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8392:Plxnc1
|
UTSW |
10 |
94,637,352 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8758:Plxnc1
|
UTSW |
10 |
94,758,607 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8806:Plxnc1
|
UTSW |
10 |
94,635,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8882:Plxnc1
|
UTSW |
10 |
94,677,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8893:Plxnc1
|
UTSW |
10 |
94,685,709 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8956:Plxnc1
|
UTSW |
10 |
94,746,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9040:Plxnc1
|
UTSW |
10 |
94,779,379 (GRCm39) |
nonsense |
probably null |
|
|
R9102:Plxnc1
|
UTSW |
10 |
94,663,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Plxnc1
|
UTSW |
10 |
94,629,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Plxnc1
|
UTSW |
10 |
94,780,685 (GRCm39) |
start gained |
probably benign |
|
|
R9368:Plxnc1
|
UTSW |
10 |
94,700,599 (GRCm39) |
nonsense |
probably null |
|
|
R9375:Plxnc1
|
UTSW |
10 |
94,649,093 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9430:Plxnc1
|
UTSW |
10 |
94,758,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9460:Plxnc1
|
UTSW |
10 |
94,700,895 (GRCm39) |
missense |
probably benign |
|
|
R9498:Plxnc1
|
UTSW |
10 |
94,649,004 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
RF003:Plxnc1
|
UTSW |
10 |
94,630,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF045:Plxnc1
|
UTSW |
10 |
94,700,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF046:Plxnc1
|
UTSW |
10 |
94,700,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF047:Plxnc1
|
UTSW |
10 |
94,700,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Plxnc1
|
UTSW |
10 |
94,700,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Plxnc1
|
UTSW |
10 |
94,700,891 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTGGAAACAACTCAGGC -3'
(R):5'- TCCCTGAAAAGGATGGATTATGG -3'
Sequencing Primer
(F):5'- TGGAAACAACTCAGGCCATATAACTG -3'
(R):5'- GATTAAAGTAGTATAATGGGATCCGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation