Incidental Mutation 'R6714:Nectin4'
ID |
529231 |
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 |
044832-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R6714 (G1)
|
Quality Score |
115.008 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171197741-171215855 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
A to T
at 171198218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006578]
[ENSMUST00000094325]
[ENSMUST00000111286]
|
AlphaFold |
Q8R007 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006578
|
SMART Domains |
Protein: ENSMUSP00000006578 Gene: ENSMUSG00000006411
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: ENSMUST00000094325
|
SMART Domains |
Protein: ENSMUSP00000091883 Gene: ENSMUSG00000006411
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
|
SMART Domains |
Protein: ENSMUSP00000106917 Gene: ENSMUSG00000006411
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (48/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
BC061237 |
A |
T |
14: 44,741,639 (GRCm39) |
R127S |
possibly damaging |
Het |
Bub1 |
C |
A |
2: 127,656,652 (GRCm39) |
M463I |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,167,609 (GRCm39) |
I1794V |
possibly damaging |
Het |
Clspn |
C |
T |
4: 126,459,561 (GRCm39) |
T320M |
probably damaging |
Het |
Coch |
A |
C |
12: 51,649,520 (GRCm39) |
D277A |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Dnah7c |
A |
T |
1: 46,779,966 (GRCm39) |
I3223F |
probably damaging |
Het |
E2f6 |
G |
A |
12: 16,869,003 (GRCm39) |
V109I |
probably damaging |
Het |
Edem2 |
A |
T |
2: 155,570,809 (GRCm39) |
|
probably null |
Het |
Efcab8 |
A |
G |
2: 153,631,130 (GRCm39) |
K187E |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,574,979 (GRCm39) |
N210S |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,809,878 (GRCm39) |
I2066V |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gpc5 |
C |
T |
14: 115,789,715 (GRCm39) |
Q530* |
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,579,926 (GRCm39) |
I1937K |
probably damaging |
Het |
Hpx |
G |
A |
7: 105,244,302 (GRCm39) |
R269C |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,763,382 (GRCm39) |
|
probably null |
Het |
Kbtbd4 |
A |
T |
2: 90,736,183 (GRCm39) |
|
probably benign |
Het |
Ldlrad3 |
T |
C |
2: 101,783,297 (GRCm39) |
T310A |
probably benign |
Het |
Lrp4 |
G |
A |
2: 91,306,710 (GRCm39) |
S341N |
possibly damaging |
Het |
Map3k3 |
T |
C |
11: 106,005,048 (GRCm39) |
V69A |
possibly damaging |
Het |
Myh8 |
T |
C |
11: 67,197,775 (GRCm39) |
Y1881H |
probably damaging |
Het |
Nhsl1 |
G |
T |
10: 18,400,459 (GRCm39) |
V562L |
possibly damaging |
Het |
Or4k5 |
A |
T |
14: 50,385,671 (GRCm39) |
I220K |
possibly damaging |
Het |
Or6c205 |
T |
A |
10: 129,086,809 (GRCm39) |
N135K |
possibly damaging |
Het |
Pcdhga7 |
T |
A |
18: 37,850,330 (GRCm39) |
V779E |
probably benign |
Het |
Peg12 |
T |
A |
7: 62,113,317 (GRCm39) |
H260L |
unknown |
Het |
Qrfpr |
A |
T |
3: 36,234,405 (GRCm39) |
M312K |
possibly damaging |
Het |
Rbl2 |
T |
A |
8: 91,833,415 (GRCm39) |
I730N |
possibly damaging |
Het |
Rbm39 |
G |
C |
2: 156,003,538 (GRCm39) |
L281V |
possibly damaging |
Het |
Setd1b |
A |
G |
5: 123,295,654 (GRCm39) |
E1074G |
unknown |
Het |
Sfr1 |
A |
G |
19: 47,723,405 (GRCm39) |
D303G |
probably damaging |
Het |
Slc7a12 |
T |
C |
3: 14,546,380 (GRCm39) |
V175A |
probably benign |
Het |
Slc8a1 |
A |
T |
17: 81,715,678 (GRCm39) |
L785Q |
probably damaging |
Het |
Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
Spg11 |
T |
C |
2: 121,926,212 (GRCm39) |
I694M |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,644,189 (GRCm39) |
F143L |
probably benign |
Het |
Trpc1 |
A |
T |
9: 95,605,326 (GRCm39) |
L111Q |
probably damaging |
Het |
Tti1 |
A |
G |
2: 157,848,971 (GRCm39) |
V756A |
possibly damaging |
Het |
Unc93a2 |
T |
G |
17: 7,643,937 (GRCm39) |
E124A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,917,696 (GRCm39) |
I777N |
probably damaging |
Het |
Zbtb8b |
C |
T |
4: 129,326,776 (GRCm39) |
E97K |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,306,897 (GRCm39) |
D41G |
probably damaging |
Het |
Zfp493 |
A |
T |
13: 67,934,499 (GRCm39) |
S151C |
probably benign |
Het |
Zfp503 |
T |
C |
14: 22,035,825 (GRCm39) |
T364A |
probably benign |
Het |
Zfp507 |
T |
C |
7: 35,487,152 (GRCm39) |
K772R |
probably damaging |
Het |
Zfp804b |
T |
A |
5: 6,819,239 (GRCm39) |
M1275L |
probably benign |
Het |
Zfp811 |
G |
A |
17: 33,016,736 (GRCm39) |
H434Y |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGGTTCCCAGGTTTCTG -3'
(R):5'- TTCACACAGAGTCCAAGGGAAG -3'
Sequencing Primer
(F):5'- CTTCTTGGGGGTAGCCACG -3'
(R):5'- TCCAAGGGAAGGGAATGCTTGTG -3'
|
Posted On |
2018-07-24 |