Incidental Mutation 'K3955:Nectin1'
| ID |
67240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nectin1
|
| Ensembl Gene |
ENSMUSG00000032012 |
| Gene Name |
nectin cell adhesion molecule 1 |
| Synonyms |
nectin-1, PRR1, HIgR, HveC, Cd111, PRR, Pvrl1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.809)
|
| Stock # |
K3955 (G3)
of strain
706
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
43655251-43718758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43703375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 211
(Y211C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034510]
[ENSMUST00000216893]
|
| AlphaFold |
Q9JKF6 |
| PDB Structure |
Solution structure of the third Immunoglobulin-like domain of nectin-1 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034510
AA Change: Y211C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034510
Gene: ENSMUSG00000032012
AA Change: Y211C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
36 |
143 |
8.51e-7 |
SMART |
|
Pfam:C2-set_2
|
148 |
237 |
8.5e-21 |
PFAM |
|
IG
|
254 |
334 |
1.28e-1 |
SMART |
|
transmembrane domain
|
355 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216893
|
| Meta Mutation Damage Score |
0.9330 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice exhibit eye abnormalities including microphthalmia, absent vitreous body, abnormal ciliary body, retinal layers, and lenses, and open eyelids at birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
G |
A |
1: 89,815,326 (GRCm39) |
R738H |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,311,001 (GRCm39) |
E2G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
| Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
| Calr |
T |
C |
8: 85,572,902 (GRCm39) |
Y57C |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,777,259 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,721,293 (GRCm39) |
Y1854H |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,988,416 (GRCm39) |
M3429L |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,474,887 (GRCm39) |
F1225S |
probably benign |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,778 (GRCm39) |
P37S |
unknown |
Het |
| Eral1 |
A |
T |
11: 77,966,847 (GRCm39) |
D189E |
probably damaging |
Het |
| Fbxw14 |
G |
T |
9: 109,105,313 (GRCm39) |
P284Q |
possibly damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,425,251 (GRCm39) |
V260A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,345,097 (GRCm38) |
F30Y |
probably damaging |
Het |
| Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
| Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
| Gm9758 |
C |
G |
5: 14,963,553 (GRCm39) |
V92L |
probably benign |
Het |
| Gmps |
A |
C |
3: 63,908,954 (GRCm39) |
R485S |
probably damaging |
Het |
| Gtdc1 |
C |
T |
2: 44,642,233 (GRCm39) |
|
probably null |
Het |
| H2-Ob |
C |
T |
17: 34,460,158 (GRCm39) |
R19C |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,206,842 (GRCm39) |
V103A |
probably damaging |
Het |
| Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
| Ndnf |
G |
A |
6: 65,678,413 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,787,436 (GRCm39) |
T332I |
probably damaging |
Het |
| Or13c25 |
A |
G |
4: 52,911,081 (GRCm39) |
F238L |
probably damaging |
Het |
| Or8g28 |
A |
C |
9: 39,169,926 (GRCm39) |
L14W |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,469 (GRCm39) |
I209T |
probably benign |
Het |
| Paf1 |
T |
C |
7: 28,096,350 (GRCm39) |
|
probably null |
Het |
| Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Pramel25 |
T |
C |
4: 143,521,710 (GRCm39) |
I442T |
possibly damaging |
Het |
| Prkcq |
T |
C |
2: 11,251,604 (GRCm39) |
|
probably benign |
Het |
| Proser3 |
G |
T |
7: 30,242,924 (GRCm39) |
P218T |
probably damaging |
Het |
| Rccd1 |
G |
A |
7: 79,970,419 (GRCm39) |
S66F |
probably benign |
Het |
| Recql |
G |
T |
6: 142,323,932 (GRCm39) |
S54* |
probably null |
Het |
| Samd15 |
G |
T |
12: 87,247,534 (GRCm39) |
G73V |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,977,439 (GRCm39) |
A1296S |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,552,045 (GRCm39) |
E542G |
possibly damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,651,564 (GRCm39) |
Y1696N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,434 (GRCm39) |
I1102T |
probably benign |
Het |
| Vmn1r84 |
C |
T |
7: 12,095,884 (GRCm39) |
V270M |
probably damaging |
Het |
| Wasf1 |
C |
T |
10: 40,812,191 (GRCm39) |
P327S |
unknown |
Het |
|
| Other mutations in Nectin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Nectin1
|
APN |
9 |
43,702,555 (GRCm39) |
nonsense |
probably null |
|
|
IGL01939:Nectin1
|
APN |
9 |
43,703,871 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01978:Nectin1
|
APN |
9 |
43,703,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02795:Nectin1
|
APN |
9 |
43,714,849 (GRCm39) |
missense |
probably benign |
|
|
R0563:Nectin1
|
UTSW |
9 |
43,702,342 (GRCm39) |
missense |
probably benign |
|
|
R1439:Nectin1
|
UTSW |
9 |
43,703,396 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1822:Nectin1
|
UTSW |
9 |
43,702,374 (GRCm39) |
nonsense |
probably null |
|
|
R4356:Nectin1
|
UTSW |
9 |
43,703,802 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5153:Nectin1
|
UTSW |
9 |
43,714,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5516:Nectin1
|
UTSW |
9 |
43,715,090 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5864:Nectin1
|
UTSW |
9 |
43,702,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6903:Nectin1
|
UTSW |
9 |
43,703,179 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7791:Nectin1
|
UTSW |
9 |
43,703,336 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7878:Nectin1
|
UTSW |
9 |
43,715,198 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8046:Nectin1
|
UTSW |
9 |
43,703,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8945:Nectin1
|
UTSW |
9 |
43,703,237 (GRCm39) |
missense |
probably benign |
|
|
R9459:Nectin1
|
UTSW |
9 |
43,715,090 (GRCm39) |
missense |
probably benign |
|
|
R9526:Nectin1
|
UTSW |
9 |
43,702,369 (GRCm39) |
missense |
probably benign |
|
|
R9744:Nectin1
|
UTSW |
9 |
43,715,240 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGATGCCCAGGCCATTTCAAC -3'
(R):5'- TCTATCACAGAACCTCAGCGGAAGC -3'
Sequencing Primer
(F):5'- AACTAATGCCATCGTGTTGC -3'
(R):5'- ACAGGGAGATTGCAGCATTTTG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation