Incidental Mutation 'R7455:Nectin3'
| ID |
578094 |
| 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 |
045529-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R7455 (G1)
|
| Quality Score |
131.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 46317105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 11
(C11*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023334]
[ENSMUST00000023335]
[ENSMUST00000096052]
|
| AlphaFold |
Q9JLB9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023334
AA Change: C11*
|
| SMART Domains |
Protein: ENSMUSP00000023334
Gene: ENSMUSG00000022656
AA Change: C11*
| 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 null
Transcript: ENSMUST00000023335
AA Change: C11*
|
| SMART Domains |
Protein: ENSMUSP00000023335
Gene: ENSMUSG00000022656
AA Change: C11*
| 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 null
Transcript: ENSMUST00000096052
AA Change: C11*
|
| SMART Domains |
Protein: ENSMUSP00000093757
Gene: ENSMUSG00000022656
AA Change: C11*
| 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 null
Transcript: ENSMUST00000149901
AA Change: C10*
|
| SMART Domains |
Protein: ENSMUSP00000117479
Gene: ENSMUSG00000022656
AA Change: C10*
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
C |
T |
7: 76,074,503 (GRCm39) |
H646Y |
unknown |
Het |
| Ak5 |
C |
T |
3: 152,187,209 (GRCm39) |
R426H |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,022,792 (GRCm39) |
V1207A |
probably benign |
Het |
| Asph |
A |
T |
4: 9,531,732 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
G |
10: 122,285,169 (GRCm39) |
C154G |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,339,262 (GRCm39) |
Q283R |
probably benign |
Het |
| Cad |
C |
T |
5: 31,231,506 (GRCm39) |
P1743S |
probably damaging |
Het |
| Ccdc137 |
T |
G |
11: 120,350,985 (GRCm39) |
M129R |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,142,003 (GRCm39) |
I3028T |
possibly damaging |
Het |
| Cep68 |
T |
A |
11: 20,180,571 (GRCm39) |
I687F |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,464,154 (GRCm39) |
I262N |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,225,147 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
T |
G |
5: 5,675,873 (GRCm39) |
H247P |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,992,292 (GRCm39) |
T134A |
probably damaging |
Het |
| Cilp2 |
A |
T |
8: 70,333,721 (GRCm39) |
D1092E |
probably damaging |
Het |
| Cptp |
G |
A |
4: 155,950,957 (GRCm39) |
R170C |
probably damaging |
Het |
| Cysrt1 |
A |
G |
2: 25,129,422 (GRCm39) |
L30S |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,553,394 (GRCm39) |
V754A |
probably benign |
Het |
| Entrep2 |
A |
G |
7: 64,409,161 (GRCm39) |
V411A |
probably benign |
Het |
| Fer1l5 |
A |
T |
1: 36,428,064 (GRCm39) |
T453S |
probably benign |
Het |
| Fnbp4 |
ACCACCTCCACCTCCACCTCC |
ACCACCTCCACCTCCACCTCCACCTCC |
2: 90,608,159 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,479,701 (GRCm39) |
|
probably null |
Het |
| Gm13941 |
A |
G |
2: 110,925,085 (GRCm39) |
F173L |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,554,915 (GRCm39) |
A1654T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,798,332 (GRCm39) |
I840N |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,703,657 (GRCm39) |
I746N |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,361,692 (GRCm39) |
H448N |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,421,507 (GRCm39) |
Y581* |
probably null |
Het |
| Mark1 |
T |
A |
1: 184,651,947 (GRCm39) |
E186V |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,681,775 (GRCm39) |
V304E |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,935,705 (GRCm39) |
D1607G |
probably damaging |
Het |
| Mup18 |
A |
G |
4: 61,592,171 (GRCm39) |
V31A |
probably benign |
Het |
| Nedd1 |
A |
T |
10: 92,536,787 (GRCm39) |
L172M |
probably benign |
Het |
| Nim1k |
G |
A |
13: 120,173,995 (GRCm39) |
R300W |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,780,204 (GRCm39) |
F289L |
probably damaging |
Het |
| Or4c115 |
G |
T |
2: 88,927,434 (GRCm39) |
P279Q |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,900,150 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or8c8 |
T |
C |
9: 38,165,550 (GRCm39) |
V276A |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,931,432 (GRCm39) |
Y351H |
probably benign |
Het |
| Phf3 |
A |
C |
1: 30,876,239 (GRCm39) |
V118G |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,913,643 (GRCm39) |
Y1014H |
unknown |
Het |
| Pmp22 |
A |
G |
11: 63,025,339 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
T |
A |
6: 146,917,848 (GRCm39) |
F501L |
probably damaging |
Het |
| Rgl2 |
G |
A |
17: 34,151,657 (GRCm39) |
A234T |
probably benign |
Het |
| Rhpn2 |
G |
A |
7: 35,070,669 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,559,211 (GRCm39) |
K3058E |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,452,602 (GRCm39) |
Q539L |
possibly damaging |
Het |
| Scgn |
G |
A |
13: 24,150,848 (GRCm39) |
R168C |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,463,832 (GRCm39) |
Y38C |
probably damaging |
Het |
| Sfmbt2 |
G |
A |
2: 10,582,766 (GRCm39) |
V709I |
probably benign |
Het |
| Slc1a2 |
A |
T |
2: 102,566,299 (GRCm39) |
M10L |
probably benign |
Het |
| Sox6 |
T |
G |
7: 115,088,904 (GRCm39) |
I653L |
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,196,559 (GRCm39) |
I166V |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,067,025 (GRCm39) |
Y2152H |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,101,729 (GRCm39) |
N340S |
probably benign |
Het |
| Tmem198 |
G |
A |
1: 75,456,430 (GRCm39) |
R28Q |
unknown |
Het |
| Tut7 |
T |
C |
13: 59,969,871 (GRCm39) |
Y8C |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,624,014 (GRCm39) |
D102G |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,425,267 (GRCm39) |
M529V |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,581,984 (GRCm39) |
H310R |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,575 (GRCm39) |
S21P |
probably damaging |
Het |
| Zfp534 |
G |
A |
4: 147,759,212 (GRCm39) |
H486Y |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,907,127 (GRCm39) |
V431I |
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 |
|
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 |
|
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'- CGAAAAGTTTCCAGGCAAAGTC -3'
(R):5'- TTCCGAGTTCCCAGGAGTTC -3'
Sequencing Primer
(F):5'- TCCAGGCAAAGTCCGCGG -3'
(R):5'- TTCAGCCTCGGCAGTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation