Incidental Mutation 'R7523:Nectin2'
| ID |
582783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nectin2
|
| Ensembl Gene |
ENSMUSG00000062300 |
| Gene Name |
nectin cell adhesion molecule 2 |
| Synonyms |
Pvrl2, Cd112, nectin-2, MPH, Pvs |
| MMRRC Submission |
045595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R7523 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19450569-19483498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19464037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 314
(V314A)
|
| 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: V314A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300
AA Change: V314A
| 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 |
probably benign
Transcript: ENSMUST00000108450
AA Change: V314A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104089
Gene: ENSMUSG00000062300
AA Change: V314A
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,824 (GRCm39) |
H40Q |
unknown |
Het |
| 4932414N04Rik |
A |
T |
2: 68,569,673 (GRCm39) |
Q463L |
probably benign |
Het |
| Ano4 |
C |
A |
10: 88,807,257 (GRCm39) |
E775* |
probably null |
Het |
| Atp12a |
T |
C |
14: 56,603,425 (GRCm39) |
V10A |
possibly damaging |
Het |
| Camkmt |
A |
G |
17: 85,699,056 (GRCm39) |
I144M |
probably benign |
Het |
| Ciao2b |
G |
A |
8: 105,368,404 (GRCm39) |
|
probably benign |
Het |
| Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
| Dazl |
G |
A |
17: 50,594,569 (GRCm39) |
T162I |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,824,803 (GRCm39) |
K653R |
probably damaging |
Het |
| Exosc10 |
A |
T |
4: 148,648,299 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,199,152 (GRCm39) |
D1372G |
probably benign |
Het |
| Fxr1 |
T |
C |
3: 34,093,692 (GRCm39) |
V23A |
probably benign |
Het |
| Gmps |
T |
C |
3: 63,919,087 (GRCm39) |
I557T |
possibly damaging |
Het |
| Ifnab |
A |
T |
4: 88,609,029 (GRCm39) |
Y146N |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,036 (GRCm39) |
Y925C |
not run |
Het |
| Lrp1b |
C |
T |
2: 41,401,473 (GRCm39) |
V394M |
|
Het |
| Ltbp2 |
T |
C |
12: 84,837,808 (GRCm39) |
T1211A |
probably benign |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,667,270 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
T |
11: 115,781,684 (GRCm39) |
I2798F |
unknown |
Het |
| Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
| Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
| Or2c1 |
T |
C |
16: 3,657,563 (GRCm39) |
V242A |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,389 (GRCm39) |
K236E |
probably damaging |
Het |
| Pdcd4 |
G |
T |
19: 53,899,379 (GRCm39) |
V123F |
probably damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,426,708 (GRCm39) |
R275W |
probably damaging |
Het |
| Ppt2 |
A |
G |
17: 34,845,777 (GRCm39) |
|
probably null |
Het |
| Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
| Ptbp3 |
A |
G |
4: 59,546,159 (GRCm39) |
V11A |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,819,331 (GRCm39) |
N795S |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,130 (GRCm38) |
I1383S |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,540,352 (GRCm39) |
I1023T |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,257,288 (GRCm39) |
E411G |
probably null |
Het |
| Stard9 |
T |
C |
2: 120,530,078 (GRCm39) |
Y2112H |
probably benign |
Het |
| Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,969,408 (GRCm39) |
|
probably null |
Het |
| Tle1 |
A |
T |
4: 72,063,655 (GRCm39) |
S199R |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,586,783 (GRCm39) |
I399T |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,004,299 (GRCm39) |
N1344S |
|
Het |
| Vmn2r114 |
A |
G |
17: 23,529,611 (GRCm39) |
F164L |
probably benign |
Het |
| Vps13a |
G |
T |
19: 16,681,153 (GRCm39) |
T1041K |
probably benign |
Het |
| Zbtb20 |
T |
C |
16: 43,430,875 (GRCm39) |
V389A |
probably benign |
Het |
| Zfp811 |
A |
T |
17: 33,016,726 (GRCm39) |
I438N |
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,545 (GRCm39) |
D86G |
probably benign |
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 |
|
PIT4458001:Nectin2
|
UTSW |
7 |
19,472,252 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
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'- ATCCTAGGGCAGCATCAGTG -3'
(R):5'- AGAGCTAGGGTGTGCATCTC -3'
Sequencing Primer
(F):5'- TAGGGCAGCATCAGTGACACC -3'
(R):5'- TGTGTACCCCTGGGACTGAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation