Incidental Mutation 'R5264:Nectin4'
| ID |
401581 |
| 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 |
042832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171197741-171215855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 171211273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 266
(T266S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006578]
[ENSMUST00000094325]
[ENSMUST00000111286]
|
| AlphaFold |
Q8R007 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006578
AA Change: T266S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000006578
Gene: ENSMUSG00000006411
AA Change: T266S
| 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
AA Change: T266S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000091883
Gene: ENSMUSG00000006411
AA Change: T266S
| 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: T266S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000106917
Gene: ENSMUSG00000006411
AA Change: T266S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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 |
|---|
| Ckap2l |
A |
T |
2: 129,127,299 (GRCm39) |
M293K |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dnai7 |
A |
G |
6: 145,127,502 (GRCm39) |
V469A |
probably benign |
Het |
| Efcab7 |
G |
A |
4: 99,735,372 (GRCm39) |
R132H |
probably benign |
Het |
| Elovl4 |
T |
C |
9: 83,662,817 (GRCm39) |
T239A |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,481,621 (GRCm39) |
D240G |
probably damaging |
Het |
| Fbln5 |
T |
A |
12: 101,723,703 (GRCm39) |
M346L |
possibly damaging |
Het |
| Fbxl21 |
T |
C |
13: 56,680,136 (GRCm39) |
F174L |
probably benign |
Het |
| Gns |
A |
G |
10: 121,216,090 (GRCm39) |
D279G |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,555,265 (GRCm39) |
V2502A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,205,088 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,628,118 (GRCm39) |
I155F |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,353 (GRCm39) |
I140V |
probably benign |
Het |
| Mrgprb5 |
G |
A |
7: 47,817,796 (GRCm39) |
S313L |
probably benign |
Het |
| Nsd1 |
C |
T |
13: 55,395,159 (GRCm39) |
A1023V |
possibly damaging |
Het |
| Or51a39 |
T |
C |
7: 102,363,558 (GRCm39) |
T21A |
probably benign |
Het |
| Paqr8 |
A |
G |
1: 21,005,332 (GRCm39) |
H162R |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,726,937 (GRCm39) |
|
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,098,293 (GRCm39) |
D325G |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,361,532 (GRCm39) |
E1255V |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Polr3b |
A |
T |
10: 84,503,280 (GRCm39) |
Q399L |
probably benign |
Het |
| Ppp1r35 |
G |
A |
5: 137,778,286 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,166,377 (GRCm39) |
D919E |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,978,481 (GRCm39) |
T198A |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,564,997 (GRCm39) |
|
probably null |
Het |
| Ptprk |
A |
G |
10: 28,461,582 (GRCm39) |
Y39C |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,175 (GRCm39) |
Y75H |
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,785,379 (GRCm39) |
Y430C |
probably damaging |
Het |
| Samd12 |
C |
T |
15: 53,723,669 (GRCm39) |
C8Y |
probably damaging |
Het |
| Sema3e |
A |
C |
5: 14,276,662 (GRCm39) |
L314F |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,857,089 (GRCm39) |
F401L |
probably damaging |
Het |
| Smoc1 |
T |
A |
12: 81,151,474 (GRCm39) |
S64T |
probably damaging |
Het |
| Socs5 |
T |
A |
17: 87,441,769 (GRCm39) |
H236Q |
probably damaging |
Het |
| Spaca1 |
C |
A |
4: 34,049,863 (GRCm39) |
R45L |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,750,324 (GRCm39) |
K457E |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,116,934 (GRCm39) |
|
probably null |
Het |
| Tcp11l2 |
A |
G |
10: 84,449,524 (GRCm39) |
I496M |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,725,535 (GRCm39) |
I648V |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,453 (GRCm39) |
Y161C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,410,813 (GRCm39) |
V171E |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,219 (GRCm39) |
K933E |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,676,198 (GRCm39) |
E373G |
probably damaging |
Het |
| Zfp617 |
A |
G |
8: 72,686,885 (GRCm39) |
Y405C |
probably damaging |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAACCAAAATGGACTCTGAG -3'
(R):5'- GTCTGAATCTATGCCCCGAC -3'
Sequencing Primer
(F):5'- CCAAAATGGACTCTGAGCTTGG -3'
(R):5'- GAATCTATGCCCCGACTTAGCTAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation