Incidental Mutation 'R1251:Nectin3'
| ID |
151777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nectin3
|
| Ensembl Gene |
ENSMUSG00000022656 |
| Gene Name |
nectin cell adhesion molecule 3 |
| Synonyms |
3000002N23Rik, 2610301B19Rik, nectin-3, 4921513D19Rik, Pvrl3 |
| MMRRC Submission |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
46387706-46498525 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46463842 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 160
(S160T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023334]
[ENSMUST00000023335]
[ENSMUST00000096052]
|
| AlphaFold |
Q9JLB9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023334
AA Change: S160T
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023334
Gene: ENSMUSG00000022656
AA Change: S160T
| 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 |
possibly damaging
Transcript: ENSMUST00000023335
AA Change: S160T
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023335
Gene: ENSMUSG00000022656
AA Change: S160T
| 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 |
possibly damaging
Transcript: ENSMUST00000096052
AA Change: S160T
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093757
Gene: ENSMUSG00000022656
AA Change: S160T
| 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 |
unknown
Transcript: ENSMUST00000149901
AA Change: S159T
|
| SMART Domains |
Protein: ENSMUSP00000117479
Gene: ENSMUSG00000022656
AA Change: S159T
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 123,962,052 (GRCm38) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 31,108,171 (GRCm38) |
Y509N |
probably damaging |
Het |
| Adcy9 |
T |
A |
16: 4,311,531 (GRCm38) |
E497V |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,575,986 (GRCm38) |
L56R |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,293,372 (GRCm38) |
M952V |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,826,480 (GRCm38) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,601,265 (GRCm38) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,081,638 (GRCm38) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,982,299 (GRCm38) |
E455G |
possibly damaging |
Het |
| Copg1 |
A |
T |
6: 87,890,007 (GRCm38) |
K75* |
probably null |
Het |
| Cyp2j12 |
G |
A |
4: 96,115,666 (GRCm38) |
Q238* |
probably null |
Het |
| D17Wsu92e |
C |
T |
17: 27,786,070 (GRCm38) |
|
probably null |
Het |
| Eif3i |
T |
C |
4: 129,593,385 (GRCm38) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 30,886,276 (GRCm38) |
N411Y |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,754,484 (GRCm38) |
M305K |
probably damaging |
Het |
| Faim |
C |
T |
9: 98,992,634 (GRCm38) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 83,012,980 (GRCm38) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,358,785 (GRCm38) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,386,015 (GRCm38) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,345,570 (GRCm38) |
R21G |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 81,890,753 (GRCm38) |
G220R |
probably benign |
Het |
| Irx6 |
A |
G |
8: 92,678,253 (GRCm38) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,634,483 (GRCm38) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,812,672 (GRCm38) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 35,591,053 (GRCm38) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,372,053 (GRCm38) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm38) |
|
probably null |
Het |
| Npc2 |
A |
G |
12: 84,760,884 (GRCm38) |
S67P |
probably damaging |
Het |
| Olfr1036 |
G |
A |
2: 86,074,820 (GRCm38) |
V27M |
probably benign |
Het |
| Olfr513 |
T |
G |
7: 108,754,907 (GRCm38) |
F17C |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,677,182 (GRCm38) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,359,199 (GRCm38) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,535,051 (GRCm38) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,543,234 (GRCm38) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,797,424 (GRCm38) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 57,999,962 (GRCm38) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,425,425 (GRCm38) |
K90* |
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,838,269 (GRCm38) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,876,829 (GRCm38) |
F153S |
probably benign |
Het |
| Tube1 |
G |
T |
10: 39,134,208 (GRCm38) |
G10* |
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 108,996,024 (GRCm38) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,935,369 (GRCm38) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm38) |
D18E |
probably damaging |
Het |
|
| Other mutations in Nectin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01456:Nectin3
|
APN |
16 |
46,458,853 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0373:Nectin3
|
UTSW |
16 |
46,458,187 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0550:Nectin3
|
UTSW |
16 |
46,458,820 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1219:Nectin3
|
UTSW |
16 |
46,454,679 (GRCm38) |
nonsense |
probably null |
|
|
R1398:Nectin3
|
UTSW |
16 |
46,448,756 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1439:Nectin3
|
UTSW |
16 |
46,448,394 (GRCm38) |
nonsense |
probably null |
|
|
R2250:Nectin3
|
UTSW |
16 |
46,454,736 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2448:Nectin3
|
UTSW |
16 |
46,448,515 (GRCm38) |
splice site |
probably null |
|
|
R2483:Nectin3
|
UTSW |
16 |
46,395,179 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4523:Nectin3
|
UTSW |
16 |
46,448,590 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4709:Nectin3
|
UTSW |
16 |
46,463,943 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4809:Nectin3
|
UTSW |
16 |
46,448,160 (GRCm38) |
intron |
probably benign |
|
|
R4884:Nectin3
|
UTSW |
16 |
46,448,886 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5051:Nectin3
|
UTSW |
16 |
46,448,550 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5061:Nectin3
|
UTSW |
16 |
46,448,449 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5272:Nectin3
|
UTSW |
16 |
46,448,476 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5365:Nectin3
|
UTSW |
16 |
46,464,106 (GRCm38) |
nonsense |
probably null |
|
|
R5768:Nectin3
|
UTSW |
16 |
46,458,817 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5987:Nectin3
|
UTSW |
16 |
46,464,145 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6029:Nectin3
|
UTSW |
16 |
46,436,400 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6131:Nectin3
|
UTSW |
16 |
46,395,152 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6251:Nectin3
|
UTSW |
16 |
46,395,150 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6299:Nectin3
|
UTSW |
16 |
46,463,982 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6347:Nectin3
|
UTSW |
16 |
46,458,124 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6360:Nectin3
|
UTSW |
16 |
46,411,109 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6505:Nectin3
|
UTSW |
16 |
46,448,821 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6703:Nectin3
|
UTSW |
16 |
46,463,842 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6869:Nectin3
|
UTSW |
16 |
46,395,143 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7184:Nectin3
|
UTSW |
16 |
46,395,121 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7298:Nectin3
|
UTSW |
16 |
46,448,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7455:Nectin3
|
UTSW |
16 |
46,496,742 (GRCm38) |
nonsense |
probably null |
|
|
R7973:Nectin3
|
UTSW |
16 |
46,396,121 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7993:Nectin3
|
UTSW |
16 |
46,458,821 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8108:Nectin3
|
UTSW |
16 |
46,464,121 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8259:Nectin3
|
UTSW |
16 |
46,436,391 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8511:Nectin3
|
UTSW |
16 |
46,464,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8971:Nectin3
|
UTSW |
16 |
46,448,902 (GRCm38) |
missense |
probably benign |
|
|
R9195:Nectin3
|
UTSW |
16 |
46,458,896 (GRCm38) |
nonsense |
probably null |
|
|
R9264:Nectin3
|
UTSW |
16 |
46,454,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9492:Nectin3
|
UTSW |
16 |
46,395,148 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAGTCACCATGCACACATGAG -3'
(R):5'- TTGTGGAGCCACATGTCACAGC -3'
Sequencing Primer
(F):5'- TGCATACATTGAGAGCCTAGAC -3'
(R):5'- GTACACAGACTGTTGCAGTTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation