Incidental Mutation 'IGL00819:Nectin4'
| ID |
13233 |
| 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 # |
IGL00819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171197741-171215855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171212254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 284
(L284S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006578]
[ENSMUST00000056449]
[ENSMUST00000094325]
[ENSMUST00000111286]
|
| AlphaFold |
Q8R007 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006578
AA Change: L284S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006578
Gene: ENSMUSG00000006411
AA Change: L284S
| 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 damaging
Transcript: ENSMUST00000094325
AA Change: L284S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091883
Gene: ENSMUSG00000006411
AA Change: L284S
| 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 damaging
Transcript: ENSMUST00000111286
AA Change: L284S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106917
Gene: ENSMUSG00000006411
AA Change: L284S
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
T |
3: 96,590,350 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
G |
T |
10: 90,833,202 (GRCm39) |
|
probably null |
Het |
| Ash1l |
T |
A |
3: 88,915,043 (GRCm39) |
V1891E |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,429,831 (GRCm39) |
S402P |
probably damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,302,732 (GRCm39) |
N117K |
probably damaging |
Het |
| Ccl7 |
A |
G |
11: 81,937,401 (GRCm39) |
N45S |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,364,176 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,902,843 (GRCm39) |
I169T |
probably benign |
Het |
| Exo1 |
T |
C |
1: 175,723,803 (GRCm39) |
V383A |
probably benign |
Het |
| Fbxl2 |
A |
G |
9: 113,813,047 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,305,451 (GRCm39) |
V106D |
possibly damaging |
Het |
| Fsip1 |
C |
A |
2: 118,080,393 (GRCm39) |
R121L |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,324,203 (GRCm39) |
S789P |
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,081,476 (GRCm39) |
D284G |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,822,637 (GRCm39) |
|
probably null |
Het |
| Mef2c |
A |
T |
13: 83,773,499 (GRCm39) |
D125V |
probably damaging |
Het |
| Numa1 |
G |
T |
7: 101,641,917 (GRCm39) |
G122W |
possibly damaging |
Het |
| Pcbd1 |
A |
C |
10: 60,927,919 (GRCm39) |
E27A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,908,860 (GRCm39) |
N5056S |
unknown |
Het |
| Pelp1 |
G |
A |
11: 70,285,444 (GRCm39) |
P808L |
unknown |
Het |
| Ppp1r12a |
T |
C |
10: 108,076,682 (GRCm39) |
S304P |
probably damaging |
Het |
| Ppp1r7 |
T |
A |
1: 93,273,978 (GRCm39) |
D51E |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,930 (GRCm39) |
K308E |
probably benign |
Het |
| Rel |
A |
T |
11: 23,693,029 (GRCm39) |
F335I |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,339,660 (GRCm39) |
E153G |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,210,113 (GRCm39) |
Y33H |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Tpra1 |
T |
A |
6: 88,886,318 (GRCm39) |
Y65* |
probably null |
Het |
| Trip12 |
C |
T |
1: 84,731,993 (GRCm39) |
G994S |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,753,183 (GRCm39) |
Y195* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,573,394 (GRCm39) |
I17506T |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,203,593 (GRCm39) |
T4761I |
possibly damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,741,117 (GRCm39) |
Y249* |
probably null |
Het |
| Zfp212 |
C |
T |
6: 47,908,256 (GRCm39) |
P412S |
probably damaging |
Het |
| Zhx1 |
A |
G |
15: 57,918,090 (GRCm39) |
V52A |
probably benign |
Het |
| Zpbp2 |
A |
T |
11: 98,448,418 (GRCm39) |
H245L |
probably damaging |
Het |
|
| Other mutations in Nectin4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01558:Nectin4
|
APN |
1 |
171,212,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2012-12-06 |
Incidental Mutation