Incidental Mutation 'R5082:Nectin2'
| ID |
387187 |
| 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 |
042671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19450569-19483498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19472049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 113
(D113E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075447]
[ENSMUST00000108450]
|
| AlphaFold |
P32507 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075447
AA Change: D113E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300
AA Change: D113E
| 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 damaging
Transcript: ENSMUST00000108450
AA Change: D113E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104089
Gene: ENSMUSG00000062300
AA Change: D113E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207271
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,022,694 (GRCm39) |
M1015L |
probably benign |
Het |
| Aftph |
T |
C |
11: 20,677,100 (GRCm39) |
S170G |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,270,642 (GRCm39) |
P274S |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,406,414 (GRCm39) |
L1767* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,731,835 (GRCm39) |
K2068* |
probably null |
Het |
| Bcl9 |
A |
T |
3: 97,117,218 (GRCm39) |
V492D |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,776,352 (GRCm39) |
H782Q |
probably benign |
Het |
| Cabin1 |
T |
A |
10: 75,574,164 (GRCm39) |
I640F |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,643,015 (GRCm39) |
V144A |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Ddx1 |
G |
T |
12: 13,270,436 (GRCm39) |
C668* |
probably null |
Het |
| Dhx58 |
G |
A |
11: 100,587,802 (GRCm39) |
S585L |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,069,590 (GRCm39) |
K268N |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,374,436 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
G |
19: 40,713,473 (GRCm39) |
|
probably null |
Het |
| Erlin2 |
T |
C |
8: 27,523,435 (GRCm39) |
V224A |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,424 (GRCm39) |
S515G |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,169,829 (GRCm39) |
D98G |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,057,145 (GRCm39) |
D943V |
probably damaging |
Het |
| Gm10322 |
A |
T |
10: 59,452,090 (GRCm39) |
E69V |
possibly damaging |
Het |
| Gm14295 |
T |
A |
2: 176,499,210 (GRCm39) |
L19* |
probably null |
Het |
| Gm7347 |
T |
A |
5: 26,262,372 (GRCm39) |
R50* |
probably null |
Het |
| Hesx1 |
T |
C |
14: 26,722,731 (GRCm39) |
C19R |
probably benign |
Het |
| Hgh1 |
T |
A |
15: 76,253,752 (GRCm39) |
F199L |
probably benign |
Het |
| Irak2 |
T |
C |
6: 113,649,805 (GRCm39) |
F147L |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,549 (GRCm39) |
R254C |
possibly damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,622 (GRCm39) |
S206R |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,451,010 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,414,156 (GRCm39) |
E308V |
possibly damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,598,201 (GRCm39) |
N369I |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,825 (GRCm39) |
H224Q |
probably damaging |
Het |
| Mtss1 |
A |
T |
15: 58,842,868 (GRCm39) |
W115R |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,088,374 (GRCm39) |
V851A |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,007,690 (GRCm39) |
C480Y |
probably damaging |
Het |
| Or6b6 |
G |
A |
7: 106,570,871 (GRCm39) |
R227C |
probably benign |
Het |
| Or8b55 |
T |
C |
9: 38,727,441 (GRCm39) |
I214T |
possibly damaging |
Het |
| Pfdn1 |
G |
T |
18: 36,537,466 (GRCm39) |
N111K |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,832,242 (GRCm39) |
V283E |
probably damaging |
Het |
| Plbd2 |
G |
T |
5: 120,629,249 (GRCm39) |
S305* |
probably null |
Het |
| Prom1 |
T |
C |
5: 44,158,174 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
T |
A |
3: 119,546,613 (GRCm39) |
M90L |
probably benign |
Het |
| Rai1 |
G |
A |
11: 60,076,745 (GRCm39) |
E270K |
possibly damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,599,925 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,101,075 (GRCm39) |
M3399V |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Sh2d2a |
A |
G |
3: 87,759,091 (GRCm39) |
D231G |
probably benign |
Het |
| Smn1 |
T |
C |
13: 100,273,890 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,068,290 (GRCm39) |
Q877* |
probably null |
Het |
| Taf2 |
G |
T |
15: 54,923,441 (GRCm39) |
H279N |
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,881,032 (GRCm39) |
Y345C |
probably damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,076 (GRCm39) |
M225I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,722,257 (GRCm39) |
W352R |
probably 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 |
|
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 |
|
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'- GATGGTCAACCTGAAAGCTAGG -3'
(R):5'- GAGATCTCTGGCTTGTTCCC -3'
Sequencing Primer
(F):5'- GTCAACCTGAAAGCTAGGACACG -3'
(R):5'- TACGAGTGCTTCCCGAGGTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation