Incidental Mutation 'R7973:Nectin3'
| ID |
650746 |
| 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 |
046016-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R7973 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46216484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 439
(T439A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023335]
[ENSMUST00000119941]
[ENSMUST00000121245]
[ENSMUST00000121803]
|
| AlphaFold |
Q9JLB9 |
| PDB Structure |
Crystal structure of afadin PDZ domain in complex with the C-terminal peptide from nectin-3 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023335
AA Change: T439A
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000023335
Gene: ENSMUSG00000022656
AA Change: T439A
| 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: ENSMUST00000119941
AA Change: T22A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121245
AA Change: T114A
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113146
Gene: ENSMUSG00000022656
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121803
AA Change: T29A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115927
Gene: ENSMUSG00000022656
AA Change: T78A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0990 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
A |
G |
5: 115,084,112 (GRCm39) |
D76G |
probably benign |
Het |
| Abcg1 |
T |
C |
17: 31,323,132 (GRCm39) |
V237A |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,752,506 (GRCm39) |
H122Q |
|
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Arhgef4 |
C |
T |
1: 34,763,518 (GRCm39) |
R925W |
possibly damaging |
Het |
| Arid1a |
C |
T |
4: 133,480,381 (GRCm39) |
G181D |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,960,164 (GRCm39) |
S2299T |
probably benign |
Het |
| Atf7ip |
C |
T |
6: 136,538,062 (GRCm39) |
Q432* |
probably null |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,483 (GRCm39) |
S10T |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,539 (GRCm39) |
I221V |
probably benign |
Het |
| Brinp2 |
T |
C |
1: 158,074,057 (GRCm39) |
Y688C |
probably damaging |
Het |
| Caml |
C |
T |
13: 55,779,784 (GRCm39) |
L286F |
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,806,331 (GRCm39) |
|
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,876,477 (GRCm39) |
V116E |
possibly damaging |
Het |
| Cenpe |
T |
A |
3: 134,929,011 (GRCm39) |
I305N |
probably damaging |
Het |
| Cep41 |
C |
T |
6: 30,680,130 (GRCm39) |
G33S |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,181,148 (GRCm39) |
I178L |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,909,377 (GRCm39) |
L1330Q |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fmnl1 |
G |
T |
11: 103,061,984 (GRCm39) |
|
probably benign |
Het |
| Galk1 |
A |
G |
11: 115,903,435 (GRCm39) |
F24L |
possibly damaging |
Het |
| Hyal4 |
T |
A |
6: 24,755,785 (GRCm39) |
M1K |
probably null |
Het |
| Ighe |
T |
C |
12: 113,236,677 (GRCm39) |
T64A |
|
Het |
| Iqch |
A |
G |
9: 63,432,228 (GRCm39) |
I389T |
possibly damaging |
Het |
| Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,230,922 (GRCm39) |
S650P |
probably benign |
Het |
| Mapkapk5 |
T |
G |
5: 121,663,776 (GRCm39) |
N426T |
possibly damaging |
Het |
| Mroh5 |
G |
T |
15: 73,664,614 (GRCm39) |
Y90* |
probably null |
Het |
| Ncan |
T |
G |
8: 70,550,225 (GRCm39) |
I1184L |
probably benign |
Het |
| Neo1 |
G |
T |
9: 58,897,476 (GRCm39) |
A160E |
probably damaging |
Het |
| Nosip |
T |
C |
7: 44,726,784 (GRCm39) |
S295P |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,222,274 (GRCm39) |
F1979L |
probably benign |
Het |
| Nxpe2 |
A |
T |
9: 48,231,168 (GRCm39) |
D400E |
probably damaging |
Het |
| Or4a73 |
T |
A |
2: 89,421,331 (GRCm39) |
I43F |
probably damaging |
Het |
| Pfkfb4 |
G |
A |
9: 108,854,179 (GRCm39) |
R351Q |
probably damaging |
Het |
| Psg29 |
T |
C |
7: 16,944,462 (GRCm39) |
I324T |
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,583,887 (GRCm39) |
T235N |
possibly damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,230,481 (GRCm39) |
N981I |
possibly damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,036,651 (GRCm39) |
Y421C |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Sgk1 |
G |
T |
10: 21,870,054 (GRCm39) |
S31I |
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,857,419 (GRCm39) |
Y390D |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,112,779 (GRCm39) |
Y271* |
probably null |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,590 (GRCm39) |
|
probably null |
Het |
| Supv3l1 |
A |
T |
10: 62,285,202 (GRCm39) |
L88Q |
probably damaging |
Het |
| Syt2 |
C |
A |
1: 134,668,570 (GRCm39) |
|
probably null |
Het |
| Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,913,634 (GRCm39) |
I899T |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,413,762 (GRCm39) |
R96M |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,961 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,872 (GRCm39) |
E249G |
probably benign |
Het |
| Zbtb34 |
C |
T |
2: 33,301,531 (GRCm39) |
G337R |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,441,882 (GRCm39) |
H231L |
probably benign |
Het |
| Zfp715 |
C |
T |
7: 42,949,321 (GRCm39) |
G213D |
possibly damaging |
Het |
| Zfp760 |
T |
G |
17: 21,941,084 (GRCm39) |
H86Q |
probably benign |
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 |
|
R7455:Nectin3
|
UTSW |
16 |
46,317,105 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGCTTCTGAGATGACTTAGCAG -3'
(R):5'- TTCTCCCTGAAGACGCCAAG -3'
Sequencing Primer
(F):5'- CTTCTGAGATGACTTAGCAGTGTTC -3'
(R):5'- CCTGAAGACGCCAAGACAGATG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation