Incidental Mutation 'PIT4458001:Nectin2'
ID |
555910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nectin2
|
Ensembl Gene |
ENSMUSG00000062300 |
Gene Name |
nectin cell adhesion molecule 2 |
Synonyms |
Pvrl2, Cd112, nectin-2, MPH, Pvs |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
PIT4458001 (G1)
|
Quality Score |
107.008 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
19450569-19483498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 19472252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 46
(L46V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075447]
[ENSMUST00000108450]
|
AlphaFold |
P32507 |
PDB Structure |
Crystal structure of mouse nectin-2 extracellular fragment D1-D2 [X-RAY DIFFRACTION]
Crystal structure of mouse nectin-2 extracellular fragment D1-D2, 2nd crystal form [X-RAY DIFFRACTION]
Crystal structure of mutant F136D of mouse nectin-2 extracellular fragment D1-D2 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075447
AA Change: L46V
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000074898 Gene: ENSMUSG00000062300 AA Change: L46V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
IGv
|
49 |
133 |
3.59e-14 |
SMART |
IG_like
|
159 |
249 |
5.31e1 |
SMART |
IG_like
|
261 |
338 |
8.12e1 |
SMART |
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
low complexity region
|
455 |
478 |
N/A |
INTRINSIC |
low complexity region
|
486 |
496 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108450
AA Change: L46V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104089 Gene: ENSMUSG00000062300 AA Change: L46V
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
26 |
N/A |
INTRINSIC |
IGv
|
49 |
133 |
3.59e-14 |
SMART |
IG_like
|
159 |
249 |
5.31e1 |
SMART |
IG_like
|
261 |
338 |
8.12e1 |
SMART |
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
low complexity region
|
416 |
438 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 73.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for targeted null mutations exhibit male sterility associated with sperm head and midpiece malformation, impaired zona binding, and lack of oocyte penetration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,248,304 (GRCm39) |
V2684L |
probably benign |
Het |
Adamts9 |
T |
A |
6: 92,866,886 (GRCm39) |
I718F |
probably damaging |
Het |
Adcyap1r1 |
A |
G |
6: 55,455,067 (GRCm39) |
D110G |
probably benign |
Het |
Adgrd1 |
G |
A |
5: 129,208,641 (GRCm39) |
G281D |
probably damaging |
Het |
Afg1l |
A |
T |
10: 42,330,366 (GRCm39) |
C100* |
probably null |
Het |
Atp2a2 |
G |
A |
5: 122,595,372 (GRCm39) |
Q993* |
probably null |
Het |
Baz1a |
A |
G |
12: 54,977,095 (GRCm39) |
M389T |
probably benign |
Het |
Btnl4 |
T |
A |
17: 34,693,242 (GRCm39) |
M58L |
probably benign |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cpeb1 |
A |
T |
7: 80,998,180 (GRCm39) |
F533Y |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,308,179 (GRCm39) |
N166K |
possibly damaging |
Het |
Ecsit |
T |
C |
9: 21,987,580 (GRCm39) |
H153R |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,162,955 (GRCm39) |
K480E |
probably benign |
Het |
Glyat |
A |
T |
19: 12,625,373 (GRCm39) |
T66S |
probably benign |
Het |
Gm1110 |
T |
C |
9: 26,792,124 (GRCm39) |
Q632R |
probably benign |
Het |
Gm12185 |
C |
T |
11: 48,798,738 (GRCm39) |
R585Q |
probably damaging |
Het |
Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
Gm7489 |
A |
C |
15: 53,749,195 (GRCm39) |
E89A |
unknown |
Het |
Grb7 |
C |
T |
11: 98,344,655 (GRCm39) |
Q353* |
probably null |
Het |
Ifi207 |
G |
A |
1: 173,562,738 (GRCm39) |
T136I |
unknown |
Het |
Ighv3-1 |
T |
C |
12: 113,928,224 (GRCm39) |
Y45C |
probably benign |
Het |
Ing5 |
A |
G |
1: 93,739,668 (GRCm39) |
M92V |
possibly damaging |
Het |
Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
Lmo7 |
C |
T |
14: 102,124,923 (GRCm39) |
Q583* |
probably null |
Het |
Lrrc37a |
T |
C |
11: 103,395,338 (GRCm39) |
D29G |
probably benign |
Het |
Mpdz |
G |
T |
4: 81,337,263 (GRCm39) |
A10D |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,131,821 (GRCm39) |
M94V |
possibly damaging |
Het |
Nynrin |
A |
T |
14: 56,101,425 (GRCm39) |
T365S |
probably benign |
Het |
Or4c120 |
A |
T |
2: 89,000,977 (GRCm39) |
I193K |
probably benign |
Het |
Pde4b |
A |
C |
4: 102,459,875 (GRCm39) |
E570A |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,855,622 (GRCm39) |
H988R |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,763,708 (GRCm39) |
K1234E |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,957,741 (GRCm39) |
M233K |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,577,510 (GRCm39) |
P266S |
unknown |
Het |
Ralgds |
T |
C |
2: 28,432,486 (GRCm39) |
L160P |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,375,237 (GRCm39) |
M664K |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,570,334 (GRCm39) |
T4930A |
probably benign |
Het |
Senp8 |
T |
C |
9: 59,644,763 (GRCm39) |
Y131C |
probably damaging |
Het |
Sp100 |
A |
G |
1: 85,635,837 (GRCm39) |
I547M |
probably benign |
Het |
Spata20 |
A |
G |
11: 94,375,434 (GRCm39) |
M120T |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,069,664 (GRCm39) |
H604R |
probably benign |
Het |
Sycp1 |
A |
T |
3: 102,842,149 (GRCm39) |
S53T |
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,950,022 (GRCm39) |
D62G |
unknown |
Het |
Trpm1 |
G |
C |
7: 63,918,309 (GRCm39) |
E1434Q |
possibly damaging |
Het |
Tshb |
A |
T |
3: 102,685,480 (GRCm39) |
Y50N |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,126,614 (GRCm39) |
Y413* |
probably null |
Het |
Zdhhc16 |
G |
A |
19: 41,926,209 (GRCm39) |
G55R |
possibly damaging |
Het |
|
Other mutations in Nectin2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01982:Nectin2
|
APN |
7 |
19,451,487 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03184:Nectin2
|
APN |
7 |
19,472,231 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0012:Nectin2
|
UTSW |
7 |
19,464,669 (GRCm39) |
splice site |
probably benign |
|
R0012:Nectin2
|
UTSW |
7 |
19,464,669 (GRCm39) |
splice site |
probably benign |
|
R0555:Nectin2
|
UTSW |
7 |
19,467,148 (GRCm39) |
splice site |
probably benign |
|
R0764:Nectin2
|
UTSW |
7 |
19,483,096 (GRCm39) |
splice site |
probably null |
|
R1252:Nectin2
|
UTSW |
7 |
19,451,523 (GRCm39) |
missense |
probably benign |
0.18 |
R1465:Nectin2
|
UTSW |
7 |
19,464,041 (GRCm39) |
missense |
probably benign |
|
R1465:Nectin2
|
UTSW |
7 |
19,464,041 (GRCm39) |
missense |
probably benign |
|
R1833:Nectin2
|
UTSW |
7 |
19,451,633 (GRCm39) |
missense |
probably damaging |
0.96 |
R2115:Nectin2
|
UTSW |
7 |
19,451,489 (GRCm39) |
missense |
probably damaging |
0.98 |
R2168:Nectin2
|
UTSW |
7 |
19,464,539 (GRCm39) |
missense |
probably damaging |
0.98 |
R3801:Nectin2
|
UTSW |
7 |
19,451,561 (GRCm39) |
missense |
probably benign |
|
R3825:Nectin2
|
UTSW |
7 |
19,458,510 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4877:Nectin2
|
UTSW |
7 |
19,451,645 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5062:Nectin2
|
UTSW |
7 |
19,472,198 (GRCm39) |
missense |
probably benign |
0.09 |
R5082:Nectin2
|
UTSW |
7 |
19,472,049 (GRCm39) |
missense |
probably damaging |
0.99 |
R5693:Nectin2
|
UTSW |
7 |
19,458,794 (GRCm39) |
missense |
probably benign |
0.00 |
R6042:Nectin2
|
UTSW |
7 |
19,472,063 (GRCm39) |
missense |
probably benign |
0.01 |
R6060:Nectin2
|
UTSW |
7 |
19,451,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R6657:Nectin2
|
UTSW |
7 |
19,472,065 (GRCm39) |
missense |
probably benign |
0.41 |
R7437:Nectin2
|
UTSW |
7 |
19,483,193 (GRCm39) |
nonsense |
probably null |
|
R7476:Nectin2
|
UTSW |
7 |
19,451,546 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7523:Nectin2
|
UTSW |
7 |
19,464,037 (GRCm39) |
missense |
probably benign |
0.00 |
R7538:Nectin2
|
UTSW |
7 |
19,464,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R7910:Nectin2
|
UTSW |
7 |
19,466,912 (GRCm39) |
nonsense |
probably null |
|
R8181:Nectin2
|
UTSW |
7 |
19,458,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R8394:Nectin2
|
UTSW |
7 |
19,467,137 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8406:Nectin2
|
UTSW |
7 |
19,472,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R8419:Nectin2
|
UTSW |
7 |
19,472,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R8419:Nectin2
|
UTSW |
7 |
19,451,646 (GRCm39) |
missense |
probably benign |
0.00 |
R9188:Nectin2
|
UTSW |
7 |
19,453,119 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Nectin2
|
UTSW |
7 |
19,472,288 (GRCm39) |
missense |
probably benign |
0.15 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCTCTGACAAAGGACAGAC -3'
(R):5'- GGTCAGGTGTGGTGACTCA -3'
Sequencing Primer
(F):5'- ACGGTCCTTGCTGAACTGAGAG -3'
(R):5'- TTGTGAGTACAAGGCCACTC -3'
|
Posted On |
2019-06-07 |