Incidental Mutation 'R5272:Nectin3'
| ID |
400447 |
| 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 |
042836-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R5272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46268839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 521
(V521A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023334]
[ENSMUST00000023335]
[ENSMUST00000096052]
[ENSMUST00000121245]
|
| AlphaFold |
Q9JLB9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023334
AA Change: V521A
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023334
Gene: ENSMUSG00000022656
AA Change: V521A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,772,759 (GRCm39) |
E245G |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,930,670 (GRCm39) |
T213S |
possibly damaging |
Het |
| Cep152 |
G |
A |
2: 125,452,950 (GRCm39) |
T374I |
probably benign |
Het |
| Crx |
C |
T |
7: 15,602,210 (GRCm39) |
C156Y |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,249,958 (GRCm39) |
T1007S |
probably damaging |
Het |
| Cyp19a1 |
A |
T |
9: 54,083,898 (GRCm39) |
C164S |
probably benign |
Het |
| Ddx55 |
A |
T |
5: 124,696,092 (GRCm39) |
I137F |
possibly damaging |
Het |
| Dgkg |
C |
A |
16: 22,407,044 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
G |
12: 104,670,499 (GRCm39) |
I1022T |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,350,811 (GRCm39) |
V2611A |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,104,844 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
A |
T |
14: 32,240,985 (GRCm39) |
K170* |
probably null |
Het |
| Fibcd1 |
A |
T |
2: 31,706,635 (GRCm39) |
C399S |
probably damaging |
Het |
| Fibcd1 |
G |
T |
2: 31,706,636 (GRCm39) |
N398K |
probably damaging |
Het |
| Fnbp4 |
G |
A |
2: 90,583,459 (GRCm39) |
M327I |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,222,479 (GRCm39) |
L256* |
probably null |
Het |
| Galr1 |
T |
A |
18: 82,423,761 (GRCm39) |
Y172F |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,920,115 (GRCm39) |
N186S |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,212,043 (GRCm39) |
I614V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,369,099 (GRCm39) |
I398N |
probably damaging |
Het |
| Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
| Mup6 |
G |
C |
4: 60,005,922 (GRCm39) |
G138A |
probably damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,067 (GRCm39) |
E1096G |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Panx1 |
C |
T |
9: 14,956,152 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
A |
G |
18: 37,440,819 (GRCm39) |
Y43C |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,617,156 (GRCm39) |
Y62H |
probably damaging |
Het |
| Rab40b |
A |
G |
11: 121,248,134 (GRCm39) |
V190A |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,483,558 (GRCm39) |
E4063G |
probably damaging |
Het |
| Smlr1 |
T |
C |
10: 25,411,925 (GRCm39) |
I21V |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,523,410 (GRCm39) |
Y1614N |
probably damaging |
Het |
| Tesmin |
C |
A |
19: 3,456,992 (GRCm39) |
A257E |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,153,249 (GRCm39) |
L34P |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,319,353 (GRCm39) |
T446K |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,160,276 (GRCm39) |
I187T |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,455,818 (GRCm39) |
V119E |
probably damaging |
Het |
| Trf |
A |
T |
9: 103,105,177 (GRCm39) |
M45K |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,837,235 (GRCm39) |
C524R |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,049,972 (GRCm39) |
V293I |
probably damaging |
Het |
| Ugt1a6b |
C |
T |
1: 88,034,949 (GRCm39) |
R96C |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,894,264 (GRCm39) |
Q222R |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,316,594 (GRCm39) |
V380D |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGATACATTGAACCCAGG -3'
(R):5'- AGGATGAGCTGGATTCTTACCC -3'
Sequencing Primer
(F):5'- CAGATACATTGAACCCAGGTTTTAC -3'
(R):5'- TGGATTCTTACCCAGACAGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation