Incidental Mutation 'R7298:Nectin3'
ID |
566823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nectin3
|
Ensembl Gene |
ENSMUSG00000022656 |
Gene Name |
nectin cell adhesion molecule 3 |
Synonyms |
2610301B19Rik, nectin-3, 3000002N23Rik, Pvrl3, 4921513D19Rik |
MMRRC Submission |
045402-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.269)
|
Stock # |
R7298 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46268759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 548
(Y548N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023334]
[ENSMUST00000023335]
[ENSMUST00000096052]
[ENSMUST00000121245]
|
AlphaFold |
Q9JLB9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023334
AA Change: Y548N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023334 Gene: ENSMUSG00000022656 AA Change: Y548N
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
IG
|
63 |
167 |
5.04e-9 |
SMART |
Pfam:C2-set_2
|
173 |
257 |
1.5e-19 |
PFAM |
Pfam:Ig_3
|
284 |
342 |
3.1e-6 |
PFAM |
low complexity region
|
358 |
367 |
N/A |
INTRINSIC |
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023335
|
SMART Domains |
Protein: ENSMUSP00000023335 Gene: ENSMUSG00000022656
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
IG
|
63 |
167 |
5.04e-9 |
SMART |
Pfam:C2-set_2
|
173 |
257 |
2.5e-19 |
PFAM |
Pfam:Ig_2
|
281 |
355 |
1.3e-6 |
PFAM |
transmembrane domain
|
368 |
390 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096052
|
SMART Domains |
Protein: ENSMUSP00000093757 Gene: ENSMUSG00000022656
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
IG
|
63 |
167 |
5.04e-9 |
SMART |
Pfam:C2-set_2
|
173 |
257 |
2e-19 |
PFAM |
Pfam:Ig_2
|
281 |
355 |
1e-6 |
PFAM |
transmembrane domain
|
368 |
390 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121245
|
SMART Domains |
Protein: ENSMUSP00000113146 Gene: ENSMUSG00000022656
Domain | Start | End | E-Value | Type |
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4607 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
96% (52/54) |
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 of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] PHENOTYPE: Homozygous null mice exhibit male infertility and eye abnormalities including microphthalmia, absent vitreous body, abnormal ciliary body, retinal layers, and lenses. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,807,106 (GRCm39) |
T51S |
probably benign |
Het |
Abcc1 |
A |
G |
16: 14,214,336 (GRCm39) |
D204G |
possibly damaging |
Het |
Acaa1b |
C |
T |
9: 118,980,915 (GRCm39) |
E172K |
probably benign |
Het |
Adamts5 |
G |
A |
16: 85,696,806 (GRCm39) |
T117I |
probably benign |
Het |
Agmat |
A |
G |
4: 141,474,275 (GRCm39) |
E52G |
possibly damaging |
Het |
Alg9 |
C |
T |
9: 50,690,361 (GRCm39) |
A121V |
probably damaging |
Het |
Atf7ip2 |
T |
C |
16: 10,027,032 (GRCm39) |
I100T |
possibly damaging |
Het |
Calm2 |
T |
C |
17: 87,750,165 (GRCm39) |
|
probably null |
Het |
Cfap44 |
A |
T |
16: 44,301,775 (GRCm39) |
M1838L |
probably benign |
Het |
Cym |
A |
G |
3: 107,127,009 (GRCm39) |
Y49H |
probably benign |
Het |
Dchs1 |
G |
A |
7: 105,404,338 (GRCm39) |
R2735* |
probably null |
Het |
Dnajc6 |
T |
C |
4: 101,463,808 (GRCm39) |
I187T |
probably benign |
Het |
Fam151a |
G |
T |
4: 106,592,725 (GRCm39) |
R69L |
possibly damaging |
Het |
Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
Gm9922 |
C |
A |
14: 101,966,961 (GRCm39) |
G97V |
unknown |
Het |
Hacl1 |
A |
T |
14: 31,338,443 (GRCm39) |
M378K |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ighv1-82 |
A |
T |
12: 115,916,574 (GRCm39) |
I6N |
possibly damaging |
Het |
Kctd19 |
A |
C |
8: 106,109,616 (GRCm39) |
V942G |
probably benign |
Het |
Lce1l |
C |
T |
3: 92,757,483 (GRCm39) |
C125Y |
unknown |
Het |
Mmp8 |
T |
C |
9: 7,560,449 (GRCm39) |
F42S |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,148,411 (GRCm39) |
L529P |
probably damaging |
Het |
Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
Or4c12b |
T |
C |
2: 89,646,865 (GRCm39) |
F59S |
probably damaging |
Het |
Or6aa1 |
T |
A |
7: 86,044,131 (GRCm39) |
T192S |
probably damaging |
Het |
Otof |
T |
A |
5: 30,545,614 (GRCm39) |
I514F |
probably damaging |
Het |
Pira12 |
T |
A |
7: 3,898,264 (GRCm39) |
I353F |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,623,458 (GRCm39) |
S603* |
probably null |
Het |
Ppa1 |
T |
A |
10: 61,502,691 (GRCm39) |
D171E |
probably benign |
Het |
Pramel23 |
C |
A |
4: 143,425,075 (GRCm39) |
D123Y |
probably benign |
Het |
Prss34 |
T |
C |
17: 25,518,737 (GRCm39) |
C240R |
probably damaging |
Het |
Ptpre |
A |
G |
7: 135,285,016 (GRCm39) |
D714G |
probably damaging |
Het |
Ranbp9 |
A |
G |
13: 43,633,936 (GRCm39) |
F157L |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,600,417 (GRCm39) |
K1475E |
unknown |
Het |
Retnlg |
A |
G |
16: 48,693,237 (GRCm39) |
N5D |
probably benign |
Het |
Rev1 |
T |
C |
1: 38,092,185 (GRCm39) |
T1245A |
probably damaging |
Het |
Rngtt |
G |
T |
4: 33,362,927 (GRCm39) |
L360F |
probably damaging |
Het |
Scrib |
A |
C |
15: 75,936,610 (GRCm39) |
V447G |
probably damaging |
Het |
Slc22a6 |
C |
A |
19: 8,598,684 (GRCm39) |
A247E |
possibly damaging |
Het |
Slc25a20 |
G |
A |
9: 108,539,343 (GRCm39) |
|
probably benign |
Het |
Spag16 |
T |
A |
1: 69,958,585 (GRCm39) |
|
probably null |
Het |
Stx3 |
C |
T |
19: 11,767,412 (GRCm39) |
W87* |
probably null |
Het |
Syngap1 |
T |
A |
17: 27,181,961 (GRCm39) |
M1158K |
possibly damaging |
Het |
Tmed9 |
C |
A |
13: 55,741,107 (GRCm39) |
H41N |
possibly damaging |
Het |
Trav15-2-dv6-2 |
G |
A |
14: 53,887,242 (GRCm39) |
S54N |
probably benign |
Het |
Tyk2 |
C |
T |
9: 21,020,156 (GRCm39) |
V1001I |
probably benign |
Het |
Ugt8a |
A |
G |
3: 125,709,065 (GRCm39) |
V15A |
probably benign |
Het |
Uhrf2 |
A |
G |
19: 30,065,949 (GRCm39) |
E661G |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,449,979 (GRCm39) |
I75N |
probably benign |
Het |
Zfp346 |
T |
G |
13: 55,278,416 (GRCm39) |
V258G |
probably damaging |
Het |
Zfp87 |
T |
A |
13: 74,520,513 (GRCm39) |
K188N |
possibly damaging |
Het |
Zgrf1 |
C |
A |
3: 127,377,299 (GRCm39) |
S848* |
probably null |
Het |
|
Other mutations in Nectin3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01456:Nectin3
|
APN |
16 |
46,279,216 (GRCm39) |
missense |
probably benign |
0.23 |
R0373:Nectin3
|
UTSW |
16 |
46,278,550 (GRCm39) |
missense |
probably damaging |
0.99 |
R0550:Nectin3
|
UTSW |
16 |
46,279,183 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1219:Nectin3
|
UTSW |
16 |
46,275,042 (GRCm39) |
nonsense |
probably null |
|
R1251:Nectin3
|
UTSW |
16 |
46,284,205 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1398:Nectin3
|
UTSW |
16 |
46,269,119 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1439:Nectin3
|
UTSW |
16 |
46,268,757 (GRCm39) |
nonsense |
probably null |
|
R2250:Nectin3
|
UTSW |
16 |
46,275,099 (GRCm39) |
missense |
probably benign |
0.00 |
R2448:Nectin3
|
UTSW |
16 |
46,268,878 (GRCm39) |
splice site |
probably null |
|
R2483:Nectin3
|
UTSW |
16 |
46,215,542 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4523:Nectin3
|
UTSW |
16 |
46,268,953 (GRCm39) |
missense |
probably benign |
0.15 |
R4709:Nectin3
|
UTSW |
16 |
46,284,306 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4809:Nectin3
|
UTSW |
16 |
46,268,523 (GRCm39) |
intron |
probably benign |
|
R4884:Nectin3
|
UTSW |
16 |
46,269,249 (GRCm39) |
missense |
probably benign |
0.01 |
R5051:Nectin3
|
UTSW |
16 |
46,268,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5061:Nectin3
|
UTSW |
16 |
46,268,812 (GRCm39) |
missense |
probably benign |
0.03 |
R5272:Nectin3
|
UTSW |
16 |
46,268,839 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5365:Nectin3
|
UTSW |
16 |
46,284,469 (GRCm39) |
nonsense |
probably null |
|
R5768:Nectin3
|
UTSW |
16 |
46,279,180 (GRCm39) |
missense |
probably damaging |
0.98 |
R5987:Nectin3
|
UTSW |
16 |
46,284,508 (GRCm39) |
missense |
probably benign |
0.00 |
R6029:Nectin3
|
UTSW |
16 |
46,256,763 (GRCm39) |
missense |
probably benign |
0.08 |
R6131:Nectin3
|
UTSW |
16 |
46,215,515 (GRCm39) |
missense |
probably damaging |
0.98 |
R6251:Nectin3
|
UTSW |
16 |
46,215,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R6299:Nectin3
|
UTSW |
16 |
46,284,345 (GRCm39) |
missense |
probably damaging |
0.98 |
R6347:Nectin3
|
UTSW |
16 |
46,278,487 (GRCm39) |
missense |
probably benign |
0.01 |
R6360:Nectin3
|
UTSW |
16 |
46,231,472 (GRCm39) |
missense |
probably benign |
0.09 |
R6505:Nectin3
|
UTSW |
16 |
46,269,184 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6703:Nectin3
|
UTSW |
16 |
46,284,205 (GRCm39) |
missense |
probably damaging |
0.99 |
R6869:Nectin3
|
UTSW |
16 |
46,215,506 (GRCm39) |
missense |
probably damaging |
0.96 |
R7184:Nectin3
|
UTSW |
16 |
46,215,484 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7455:Nectin3
|
UTSW |
16 |
46,317,105 (GRCm39) |
nonsense |
probably null |
|
R7973:Nectin3
|
UTSW |
16 |
46,216,484 (GRCm39) |
missense |
probably benign |
0.13 |
R7993:Nectin3
|
UTSW |
16 |
46,279,184 (GRCm39) |
missense |
probably benign |
0.01 |
R8108:Nectin3
|
UTSW |
16 |
46,284,484 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8259:Nectin3
|
UTSW |
16 |
46,256,754 (GRCm39) |
missense |
probably benign |
0.00 |
R8511:Nectin3
|
UTSW |
16 |
46,284,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R8971:Nectin3
|
UTSW |
16 |
46,269,265 (GRCm39) |
missense |
probably benign |
|
R9195:Nectin3
|
UTSW |
16 |
46,279,259 (GRCm39) |
nonsense |
probably null |
|
R9264:Nectin3
|
UTSW |
16 |
46,274,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R9492:Nectin3
|
UTSW |
16 |
46,215,511 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCAGATACATTGAACCCAGG -3'
(R):5'- TGGATTCTTACCCAGACAGTG -3'
Sequencing Primer
(F):5'- CAGATACATTGAACCCAGGTTTTAC -3'
(R):5'- TGATCCGCAAAGACTACTTAGAG -3'
|
Posted On |
2019-06-26 |