Incidental Mutation 'IGL01558:Nectin4'
| ID |
90780 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nectin4
|
| Ensembl Gene |
ENSMUSG00000006411 |
| Gene Name |
nectin cell adhesion molecule 4 |
| Synonyms |
Pvrl4, 1200017F15Rik, nectin 4, Prr4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL01558
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171197741-171215855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 171212257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 285
(D285G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006578]
[ENSMUST00000056449]
[ENSMUST00000094325]
[ENSMUST00000111286]
|
| AlphaFold |
Q8R007 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006578
AA Change: D285G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000006578
Gene: ENSMUSG00000006411
AA Change: D285G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
36 |
145 |
9.26e-8 |
SMART |
|
Pfam:Ig_2
|
147 |
241 |
4e-4 |
PFAM |
|
Pfam:C2-set_2
|
150 |
233 |
9e-17 |
PFAM |
|
IGc2
|
259 |
321 |
9.78e-7 |
SMART |
|
transmembrane domain
|
348 |
370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056449
|
| SMART Domains |
Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
14 |
N/A |
INTRINSIC |
|
RhoGAP
|
31 |
212 |
1.4e-61 |
SMART |
|
Blast:RhoGAP
|
225 |
285 |
2e-24 |
BLAST |
|
low complexity region
|
348 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094325
AA Change: D285G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000091883
Gene: ENSMUSG00000006411
AA Change: D285G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
36 |
145 |
9.26e-8 |
SMART |
|
Pfam:Ig_2
|
147 |
241 |
2.1e-4 |
PFAM |
|
Pfam:C2-set_2
|
150 |
233 |
8.7e-17 |
PFAM |
|
IGc2
|
259 |
321 |
9.78e-7 |
SMART |
|
transmembrane domain
|
348 |
370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111286
AA Change: D285G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106917
Gene: ENSMUSG00000006411
AA Change: D285G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
100 |
209 |
9.26e-8 |
SMART |
|
Pfam:C2-set_2
|
214 |
297 |
1.2e-16 |
PFAM |
|
IGc2
|
323 |
385 |
9.78e-7 |
SMART |
|
transmembrane domain
|
412 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194914
|
| 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 nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,036,464 (GRCm39) |
E359G |
possibly damaging |
Het |
| Agtr1b |
T |
C |
3: 20,370,424 (GRCm39) |
T61A |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,624,143 (GRCm39) |
I312N |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,734 (GRCm39) |
F307I |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,890,579 (GRCm39) |
R207G |
probably benign |
Het |
| G0s2 |
T |
C |
1: 192,955,003 (GRCm39) |
Y27C |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,914,362 (GRCm39) |
M474K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,346,798 (GRCm39) |
N2490S |
probably benign |
Het |
| Mpdz |
C |
A |
4: 81,213,767 (GRCm39) |
E1565* |
probably null |
Het |
| Mthfsl |
A |
G |
9: 88,570,870 (GRCm39) |
I126T |
possibly damaging |
Het |
| Neurod1 |
T |
C |
2: 79,284,363 (GRCm39) |
H340R |
possibly damaging |
Het |
| Nop53 |
G |
A |
7: 15,679,751 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,920,419 (GRCm39) |
L795P |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,533,612 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
C |
7: 108,940,491 (GRCm39) |
|
probably benign |
Het |
| Stox1 |
C |
T |
10: 62,503,651 (GRCm39) |
V135M |
probably damaging |
Het |
| Sult2a8 |
C |
A |
7: 14,159,377 (GRCm39) |
E81* |
probably null |
Het |
| Tdrd6 |
A |
G |
17: 43,936,659 (GRCm39) |
V1463A |
probably damaging |
Het |
| Tdrd6 |
C |
T |
17: 43,935,657 (GRCm39) |
G1797D |
probably benign |
Het |
| Trmt2b |
C |
A |
X: 133,139,305 (GRCm39) |
R389I |
possibly damaging |
Het |
| Ttc28 |
G |
T |
5: 111,431,828 (GRCm39) |
V1903L |
probably damaging |
Het |
|
| Other mutations in Nectin4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Nectin4
|
APN |
1 |
171,212,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Nectin4
|
APN |
1 |
171,212,341 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2047:Nectin4
|
UTSW |
1 |
171,212,720 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2203:Nectin4
|
UTSW |
1 |
171,213,797 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2518:Nectin4
|
UTSW |
1 |
171,207,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4125:Nectin4
|
UTSW |
1 |
171,213,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4708:Nectin4
|
UTSW |
1 |
171,212,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4856:Nectin4
|
UTSW |
1 |
171,212,383 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4886:Nectin4
|
UTSW |
1 |
171,212,383 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5222:Nectin4
|
UTSW |
1 |
171,212,825 (GRCm39) |
splice site |
probably null |
|
|
R5264:Nectin4
|
UTSW |
1 |
171,211,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5661:Nectin4
|
UTSW |
1 |
171,212,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Nectin4
|
UTSW |
1 |
171,214,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Nectin4
|
UTSW |
1 |
171,198,218 (GRCm39) |
start gained |
probably benign |
|
|
R7272:Nectin4
|
UTSW |
1 |
171,214,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7302:Nectin4
|
UTSW |
1 |
171,214,203 (GRCm39) |
nonsense |
probably null |
|
|
R7318:Nectin4
|
UTSW |
1 |
171,208,031 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7669:Nectin4
|
UTSW |
1 |
171,207,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7732:Nectin4
|
UTSW |
1 |
171,214,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7751:Nectin4
|
UTSW |
1 |
171,211,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7912:Nectin4
|
UTSW |
1 |
171,207,941 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7993:Nectin4
|
UTSW |
1 |
171,211,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Nectin4
|
UTSW |
1 |
171,214,255 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8306:Nectin4
|
UTSW |
1 |
171,211,325 (GRCm39) |
missense |
probably null |
1.00 |
|
R8314:Nectin4
|
UTSW |
1 |
171,212,295 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8475:Nectin4
|
UTSW |
1 |
171,212,280 (GRCm39) |
nonsense |
probably null |
|
|
R8807:Nectin4
|
UTSW |
1 |
171,211,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Nectin4
|
UTSW |
1 |
171,214,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Nectin4
|
UTSW |
1 |
171,213,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Nectin4
|
UTSW |
1 |
171,210,209 (GRCm39) |
nonsense |
probably null |
|
|
R9580:Nectin4
|
UTSW |
1 |
171,211,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Nectin4
|
UTSW |
1 |
171,210,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Nectin4
|
UTSW |
1 |
171,214,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation