Incidental Mutation 'IGL01456:Nectin3'
| ID |
84782 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nectin3
|
| Ensembl Gene |
ENSMUSG00000022656 |
| Gene Name |
nectin cell adhesion molecule 3 |
| Synonyms |
2610301B19Rik, nectin-3, 3000002N23Rik, Pvrl3, 4921513D19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
IGL01456
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46279216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 254
(E254G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023334]
[ENSMUST00000023335]
[ENSMUST00000096052]
|
| AlphaFold |
Q9JLB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023334
AA Change: E254G
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023334
Gene: ENSMUSG00000022656
AA Change: E254G
| 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
AA Change: E254G
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023335
Gene: ENSMUSG00000022656
AA Change: E254G
| 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
AA Change: E254G
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093757
Gene: ENSMUSG00000022656
AA Change: E254G
| 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 |
noncoding transcript
Transcript: ENSMUST00000133935
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149901
|
| SMART Domains |
Protein: ENSMUSP00000117479
Gene: ENSMUSG00000022656
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
|
IG
|
63 |
167 |
5.04e-9 |
SMART |
|
Pfam:Ig_3
|
184 |
243 |
4.8e-5 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,252,595 (GRCm39) |
C242R |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,453,791 (GRCm39) |
L175P |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,341,510 (GRCm39) |
E938G |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,114,036 (GRCm39) |
N208D |
probably benign |
Het |
| Atr |
A |
G |
9: 95,832,618 (GRCm39) |
H2556R |
possibly damaging |
Het |
| Cald1 |
A |
T |
6: 34,741,931 (GRCm39) |
D438V |
probably damaging |
Het |
| Dcbld2 |
C |
T |
16: 58,229,236 (GRCm39) |
P40S |
possibly damaging |
Het |
| Dock8 |
G |
A |
19: 25,096,863 (GRCm39) |
M590I |
possibly damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,583 (GRCm39) |
|
noncoding transcript |
Het |
| Hace1 |
A |
G |
10: 45,586,094 (GRCm39) |
|
probably benign |
Het |
| Igkv10-96 |
A |
G |
6: 68,609,086 (GRCm39) |
Y70H |
probably benign |
Het |
| Kdm2a |
G |
T |
19: 4,401,783 (GRCm39) |
H200Q |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,499,602 (GRCm39) |
D111G |
possibly damaging |
Het |
| Map7 |
A |
G |
10: 20,149,550 (GRCm39) |
E567G |
unknown |
Het |
| Nbeal1 |
G |
T |
1: 60,269,787 (GRCm39) |
L375F |
probably damaging |
Het |
| Nlrp4b |
A |
T |
7: 10,448,150 (GRCm39) |
I118F |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,269,683 (GRCm39) |
V3287D |
probably damaging |
Het |
| Ptpre |
T |
G |
7: 135,271,531 (GRCm39) |
V375G |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,431,187 (GRCm39) |
E746G |
probably damaging |
Het |
| Sh2b2 |
C |
T |
5: 136,253,321 (GRCm39) |
C311Y |
probably damaging |
Het |
| Skor1 |
G |
A |
9: 63,052,772 (GRCm39) |
T399I |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,796,777 (GRCm39) |
T1792A |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tln1 |
G |
A |
4: 43,543,432 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
C |
A |
7: 118,146,533 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,835,068 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
G |
A |
8: 72,097,211 (GRCm39) |
R1228W |
probably damaging |
Het |
| Vipr1 |
C |
T |
9: 121,494,244 (GRCm39) |
T275M |
probably damaging |
Het |
| Vmn1r177 |
G |
T |
7: 23,565,753 (GRCm39) |
P41Q |
possibly damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
|
| Other mutations in Nectin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R7298:Nectin3
|
UTSW |
16 |
46,268,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation