Incidental Mutation 'R8475:Nectin4'
ID |
657204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nectin4
|
Ensembl Gene |
ENSMUSG00000006411 |
Gene Name |
nectin cell adhesion molecule 4 |
Synonyms |
Pvrl4, 1200017F15Rik, nectin 4, Prr4 |
MMRRC Submission |
067919-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R8475 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171197741-171215855 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 171212280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 293
(R293*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006578]
[ENSMUST00000056449]
[ENSMUST00000094325]
[ENSMUST00000111286]
|
AlphaFold |
Q8R007 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006578
AA Change: R293*
|
SMART Domains |
Protein: ENSMUSP00000006578 Gene: ENSMUSG00000006411 AA Change: R293*
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 null
Transcript: ENSMUST00000094325
AA Change: R293*
|
SMART Domains |
Protein: ENSMUSP00000091883 Gene: ENSMUSG00000006411 AA Change: R293*
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 null
Transcript: ENSMUST00000111286
AA Change: R293*
|
SMART Domains |
Protein: ENSMUSP00000106917 Gene: ENSMUSG00000006411 AA Change: R293*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (48/48) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
Adamts14 |
T |
C |
10: 61,038,666 (GRCm39) |
E945G |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,871,976 (GRCm39) |
V958A |
probably benign |
Het |
Adh6a |
T |
C |
3: 138,030,979 (GRCm39) |
I156T |
probably benign |
Het |
Akt1 |
A |
G |
12: 112,624,863 (GRCm39) |
V201A |
possibly damaging |
Het |
Als2cl |
C |
G |
9: 110,715,484 (GRCm39) |
A182G |
possibly damaging |
Het |
Amn |
T |
A |
12: 111,241,819 (GRCm39) |
L295Q |
probably benign |
Het |
Dbf4 |
A |
G |
5: 8,448,664 (GRCm39) |
|
probably benign |
Het |
Depdc7 |
G |
A |
2: 104,552,314 (GRCm39) |
R498C |
probably benign |
Het |
Eogt |
A |
T |
6: 97,122,327 (GRCm39) |
Y35* |
probably null |
Het |
Epb41l1 |
T |
G |
2: 156,364,150 (GRCm39) |
S886R |
probably damaging |
Het |
Fshr |
A |
T |
17: 89,293,456 (GRCm39) |
D407E |
probably damaging |
Het |
Gngt1 |
C |
A |
6: 3,994,262 (GRCm39) |
D13E |
probably benign |
Het |
Grxcr1 |
T |
C |
5: 68,323,484 (GRCm39) |
L254P |
possibly damaging |
Het |
Itga11 |
A |
G |
9: 62,651,327 (GRCm39) |
D290G |
probably damaging |
Het |
Klf16 |
A |
G |
10: 80,412,719 (GRCm39) |
S106P |
probably benign |
Het |
Klk1b5 |
A |
G |
7: 43,500,204 (GRCm39) |
D264G |
possibly damaging |
Het |
Lama2 |
C |
T |
10: 26,977,369 (GRCm39) |
V1937M |
possibly damaging |
Het |
Lipi |
T |
A |
16: 75,370,862 (GRCm39) |
K118N |
probably benign |
Het |
Manba |
G |
A |
3: 135,217,573 (GRCm39) |
V130I |
probably benign |
Het |
Map2 |
A |
G |
1: 66,453,164 (GRCm39) |
S527G |
probably damaging |
Het |
Masp1 |
C |
A |
16: 23,271,281 (GRCm39) |
V656L |
probably damaging |
Het |
Mrpl10 |
A |
T |
11: 96,938,261 (GRCm39) |
N137I |
probably benign |
Het |
Mtfmt |
C |
A |
9: 65,359,469 (GRCm39) |
N381K |
probably benign |
Het |
Myo18b |
A |
T |
5: 113,021,422 (GRCm39) |
Y546* |
probably null |
Het |
Nudt3 |
A |
G |
17: 27,799,776 (GRCm39) |
S136P |
possibly damaging |
Het |
Or14c39 |
A |
C |
7: 86,344,361 (GRCm39) |
R232S |
probably benign |
Het |
Or1q1 |
G |
A |
2: 36,887,066 (GRCm39) |
M81I |
probably damaging |
Het |
Or4a81 |
T |
C |
2: 89,619,586 (GRCm39) |
M37V |
probably benign |
Het |
Or52h7 |
A |
G |
7: 104,214,066 (GRCm39) |
M213V |
probably benign |
Het |
Or9m2 |
T |
C |
2: 87,820,536 (GRCm39) |
L27P |
probably damaging |
Het |
Oxnad1 |
A |
G |
14: 31,823,250 (GRCm39) |
|
probably null |
Het |
Parn |
A |
G |
16: 13,425,113 (GRCm39) |
|
probably null |
Het |
Pcdha12 |
T |
C |
18: 37,154,136 (GRCm39) |
V285A |
possibly damaging |
Het |
Pfkfb2 |
G |
C |
1: 130,624,816 (GRCm39) |
Q515E |
probably benign |
Het |
Pjvk |
T |
C |
2: 76,480,901 (GRCm39) |
F40L |
probably benign |
Het |
Pygo2 |
A |
G |
3: 89,340,697 (GRCm39) |
Y328C |
probably damaging |
Het |
Rapgef5 |
A |
C |
12: 117,681,965 (GRCm39) |
K215Q |
probably damaging |
Het |
Sephs1 |
T |
A |
2: 4,893,821 (GRCm39) |
|
probably null |
Het |
Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
Spmip4 |
A |
G |
6: 50,566,107 (GRCm39) |
Y123H |
probably damaging |
Het |
Tbx21 |
A |
T |
11: 96,990,808 (GRCm39) |
V290D |
possibly damaging |
Het |
Tep1 |
C |
A |
14: 51,078,712 (GRCm39) |
G1514W |
probably damaging |
Het |
Vmn2r16 |
T |
C |
5: 109,487,073 (GRCm39) |
M98T |
probably benign |
Het |
Zfr |
A |
G |
15: 12,150,455 (GRCm39) |
N474S |
probably benign |
Het |
Zpbp |
T |
C |
11: 11,365,203 (GRCm39) |
K215E |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATCATGTGGGATGGCATGC -3'
(R):5'- TGGGACAGACACATCCACAG -3'
Sequencing Primer
(F):5'- GGATCTTCCCCCAAGTGTGTG -3'
(R):5'- CAGCTTAATCCTTTCCAAAACATATC -3'
|
Posted On |
2021-01-18 |