Incidental Mutation 'IGL02608:Nectin4'
ID |
300366 |
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: 0.079)
|
Stock # |
IGL02608
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171197741-171215855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 171212341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 313
(V313A)
|
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: V313A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000006578 Gene: ENSMUSG00000006411 AA Change: V313A
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: V313A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000091883 Gene: ENSMUSG00000006411 AA Change: V313A
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: V313A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000106917 Gene: ENSMUSG00000006411 AA Change: V313A
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
T |
A |
15: 102,247,627 (GRCm39) |
M415L |
probably benign |
Het |
Akap6 |
T |
C |
12: 53,057,389 (GRCm39) |
S952P |
probably benign |
Het |
Aldh3a1 |
A |
G |
11: 61,107,147 (GRCm39) |
R284G |
probably damaging |
Het |
Aldh3b1 |
G |
T |
19: 3,964,061 (GRCm39) |
H414N |
probably damaging |
Het |
Chd5 |
G |
A |
4: 152,440,564 (GRCm39) |
M141I |
possibly damaging |
Het |
Cntn2 |
C |
T |
1: 132,453,654 (GRCm39) |
A340T |
possibly damaging |
Het |
Daw1 |
T |
A |
1: 83,187,055 (GRCm39) |
C288* |
probably null |
Het |
Dcn |
A |
G |
10: 97,319,319 (GRCm39) |
E32G |
probably damaging |
Het |
Dock5 |
C |
T |
14: 68,065,888 (GRCm39) |
V372M |
probably benign |
Het |
Etf1 |
T |
C |
18: 35,064,670 (GRCm39) |
E13G |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,392,469 (GRCm39) |
E781G |
probably benign |
Het |
Gucy1a2 |
A |
G |
9: 3,635,113 (GRCm39) |
I386V |
probably damaging |
Het |
Gvin-ps5 |
T |
A |
7: 105,928,876 (GRCm39) |
|
noncoding transcript |
Het |
Hoxb5 |
T |
A |
11: 96,195,969 (GRCm39) |
|
probably benign |
Het |
Iqch |
T |
A |
9: 63,329,110 (GRCm39) |
|
probably benign |
Het |
Itgal |
C |
T |
7: 126,909,416 (GRCm39) |
P423S |
probably damaging |
Het |
Kti12 |
T |
G |
4: 108,705,359 (GRCm39) |
L91R |
probably damaging |
Het |
Lgals3 |
T |
C |
14: 47,623,058 (GRCm39) |
M239T |
probably benign |
Het |
Lrrc8a |
T |
C |
2: 30,146,311 (GRCm39) |
M375T |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,152,244 (GRCm39) |
E1103G |
probably benign |
Het |
Lyst |
A |
T |
13: 13,887,339 (GRCm39) |
E3056V |
probably damaging |
Het |
Map3k7 |
T |
C |
4: 31,981,452 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
G |
A |
11: 62,264,040 (GRCm39) |
T180I |
probably benign |
Het |
Nol4l |
A |
G |
2: 153,278,213 (GRCm39) |
S8P |
possibly damaging |
Het |
Npas2 |
T |
A |
1: 39,384,527 (GRCm39) |
S607T |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,138,955 (GRCm39) |
M9K |
probably benign |
Het |
Nwd1 |
T |
C |
8: 73,394,003 (GRCm39) |
L422P |
probably damaging |
Het |
Or14j3 |
T |
A |
17: 37,901,110 (GRCm39) |
I45F |
probably damaging |
Het |
Papola |
G |
T |
12: 105,775,818 (GRCm39) |
G245C |
probably damaging |
Het |
Pcdhb6 |
T |
C |
18: 37,467,747 (GRCm39) |
S223P |
probably damaging |
Het |
Pdcd4 |
T |
C |
19: 53,915,638 (GRCm39) |
|
probably null |
Het |
Pigg |
T |
C |
5: 108,460,869 (GRCm39) |
F27L |
probably damaging |
Het |
Prpf40a |
A |
T |
2: 53,036,165 (GRCm39) |
M588K |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,770,944 (GRCm39) |
N764S |
probably benign |
Het |
Ptar1 |
A |
C |
19: 23,683,076 (GRCm39) |
E110A |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,937,818 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,524,576 (GRCm39) |
T589A |
probably benign |
Het |
Rpl21-ps4 |
G |
T |
14: 11,227,831 (GRCm38) |
|
noncoding transcript |
Het |
Rpp38 |
T |
C |
2: 3,330,198 (GRCm39) |
T235A |
probably benign |
Het |
Sbno2 |
A |
T |
10: 79,903,236 (GRCm39) |
|
probably null |
Het |
Scn3a |
A |
T |
2: 65,354,510 (GRCm39) |
C337* |
probably null |
Het |
Sec61a2 |
T |
C |
2: 5,879,073 (GRCm39) |
T312A |
probably benign |
Het |
Snrpg |
C |
A |
6: 86,353,550 (GRCm39) |
D43E |
probably damaging |
Het |
Stag1 |
A |
T |
9: 100,639,822 (GRCm39) |
Q126L |
probably null |
Het |
Taar6 |
A |
G |
10: 23,861,081 (GRCm39) |
V155A |
probably benign |
Het |
Tet1 |
G |
A |
10: 62,715,388 (GRCm39) |
H136Y |
possibly damaging |
Het |
Tet1 |
C |
A |
10: 62,674,866 (GRCm39) |
S1070I |
probably damaging |
Het |
Tfcp2 |
T |
C |
15: 100,411,991 (GRCm39) |
T327A |
possibly damaging |
Het |
Tnfrsf13c |
C |
T |
15: 82,107,364 (GRCm39) |
V144M |
probably damaging |
Het |
Tnfrsf22 |
T |
A |
7: 143,198,533 (GRCm39) |
K61* |
probably null |
Het |
Trhr |
T |
C |
15: 44,061,074 (GRCm39) |
V198A |
probably benign |
Het |
Trp53inp2 |
A |
G |
2: 155,228,569 (GRCm39) |
R175G |
probably damaging |
Het |
Try10 |
G |
A |
6: 41,332,421 (GRCm39) |
G26R |
probably damaging |
Het |
Vmn1r205 |
A |
G |
13: 22,776,370 (GRCm39) |
V244A |
probably damaging |
Het |
Wrnip1 |
T |
A |
13: 32,990,857 (GRCm39) |
L372H |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,215,261 (GRCm39) |
L149Q |
probably damaging |
Het |
Zfp445 |
A |
G |
9: 122,690,940 (GRCm39) |
V85A |
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 |
IGL01558:Nectin4
|
APN |
1 |
171,212,257 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |