Incidental Mutation 'R6903:Nectin1'
ID |
538645 |
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 |
MMRRC Submission |
044996-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.765)
|
Stock # |
R6903 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
43655251-43718758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 43703179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 146
(P146T)
|
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 |
possibly damaging
Transcript: ENSMUST00000034510
AA Change: P146T
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034510 Gene: ENSMUSG00000032012 AA Change: P146T
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 |
0.9598 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
Validation Efficiency |
100% (46/46) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,143,952 (GRCm39) |
L15Q |
probably benign |
Het |
Acsf2 |
T |
C |
11: 94,450,417 (GRCm39) |
M497V |
probably benign |
Het |
Adnp2 |
T |
C |
18: 80,173,305 (GRCm39) |
N368S |
probably benign |
Het |
BC034090 |
T |
C |
1: 155,097,131 (GRCm39) |
T656A |
probably benign |
Het |
Bsph1 |
A |
G |
7: 13,192,183 (GRCm39) |
Y26C |
probably damaging |
Het |
Cct7 |
T |
C |
6: 85,443,675 (GRCm39) |
F306L |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,543,885 (GRCm39) |
Q143R |
probably damaging |
Het |
Cfap46 |
A |
T |
7: 139,234,477 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
G |
1: 45,371,148 (GRCm39) |
N436D |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,721,929 (GRCm39) |
E1498G |
probably damaging |
Het |
Cyp2u1 |
T |
C |
3: 131,096,424 (GRCm39) |
D118G |
probably benign |
Het |
Dek |
A |
G |
13: 47,251,663 (GRCm39) |
S51P |
possibly damaging |
Het |
Dock6 |
C |
T |
9: 21,720,860 (GRCm39) |
G1746D |
probably damaging |
Het |
Dscam |
T |
A |
16: 96,621,988 (GRCm39) |
N488Y |
probably damaging |
Het |
Ebpl |
G |
T |
14: 61,597,693 (GRCm39) |
Y49* |
probably null |
Het |
Eefsec |
C |
T |
6: 88,423,265 (GRCm39) |
G66D |
probably benign |
Het |
Epha6 |
T |
A |
16: 60,346,825 (GRCm39) |
Y146F |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,591,267 (GRCm39) |
R96G |
probably damaging |
Het |
Gm5814 |
A |
G |
17: 47,721,352 (GRCm39) |
|
probably benign |
Het |
Hspa13 |
C |
G |
16: 75,554,872 (GRCm39) |
V405L |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,797,565 (GRCm39) |
V1079A |
probably damaging |
Het |
Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
Kdm1b |
T |
A |
13: 47,227,880 (GRCm39) |
D620E |
probably benign |
Het |
Kif23 |
T |
C |
9: 61,834,436 (GRCm39) |
R442G |
possibly damaging |
Het |
Noc4l |
A |
G |
5: 110,797,461 (GRCm39) |
I391T |
probably damaging |
Het |
Npr1 |
C |
A |
3: 90,362,452 (GRCm39) |
R956L |
possibly damaging |
Het |
Or11g7 |
T |
A |
14: 50,691,412 (GRCm39) |
M301K |
possibly damaging |
Het |
Or11j4 |
T |
A |
14: 50,631,089 (GRCm39) |
M292K |
possibly damaging |
Het |
Pcdhgb2 |
T |
C |
18: 37,825,223 (GRCm39) |
V738A |
possibly damaging |
Het |
Ptpn20 |
A |
G |
14: 33,336,461 (GRCm39) |
E100G |
probably damaging |
Het |
Rgs10 |
A |
G |
7: 127,990,797 (GRCm39) |
F97S |
probably damaging |
Het |
Shisa6 |
T |
C |
11: 66,265,982 (GRCm39) |
|
probably null |
Het |
Shld1 |
A |
T |
2: 132,592,564 (GRCm39) |
K204* |
probably null |
Het |
Sirpb1a |
T |
C |
3: 15,481,984 (GRCm39) |
T115A |
probably damaging |
Het |
Supv3l1 |
A |
G |
10: 62,277,016 (GRCm39) |
C251R |
probably damaging |
Het |
Svopl |
T |
C |
6: 37,998,543 (GRCm39) |
S244G |
probably benign |
Het |
Tes |
T |
C |
6: 17,099,862 (GRCm39) |
Y286H |
probably damaging |
Het |
Tnfrsf22 |
G |
A |
7: 143,193,641 (GRCm39) |
|
probably benign |
Het |
Vmn1r185 |
A |
G |
7: 26,311,160 (GRCm39) |
I115T |
probably damaging |
Het |
Vmn2r-ps117 |
A |
G |
17: 19,058,552 (GRCm39) |
T703A |
possibly damaging |
Het |
Zan |
T |
A |
5: 137,454,566 (GRCm39) |
I1413L |
unknown |
Het |
Zc3h12d |
G |
T |
10: 7,743,425 (GRCm39) |
M398I |
probably benign |
Het |
Zfp219 |
G |
A |
14: 52,244,118 (GRCm39) |
T642M |
probably benign |
Het |
Zfp646 |
G |
A |
7: 127,479,892 (GRCm39) |
E690K |
possibly damaging |
Het |
Zfr |
T |
A |
15: 12,136,541 (GRCm39) |
V66D |
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 |
|
K3955:Nectin1
|
UTSW |
9 |
43,703,375 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GGCAGGTGCTTTAGACACTGTG -3'
(R):5'- CCATTGGGGTTCCGAATTTCC -3'
Sequencing Primer
(F):5'- GAAGCCTAAAACCAGGTCTGTTTGC -3'
(R):5'- GGGTTCCGAATTTCCTGGTACTC -3'
|
Posted On |
2018-11-06 |