Incidental Mutation 'R9195:Nectin3'
ID |
697923 |
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 |
068954-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.269)
|
Stock # |
R9195 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 46279259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 240
(R240*)
|
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: R240*
|
SMART Domains |
Protein: ENSMUSP00000023334 Gene: ENSMUSG00000022656 AA Change: R240*
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: R240*
|
SMART Domains |
Protein: ENSMUSP00000023335 Gene: ENSMUSG00000022656 AA Change: R240*
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: R240*
|
SMART Domains |
Protein: ENSMUSP00000093757 Gene: ENSMUSG00000022656 AA Change: R240*
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: 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 |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (39/39) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot10 |
G |
C |
15: 20,665,517 (GRCm39) |
T408R |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,283,479 (GRCm39) |
Y1310C |
|
Het |
Atp6v1c1 |
T |
A |
15: 38,674,198 (GRCm39) |
F64I |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,167,337 (GRCm39) |
E1246G |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,463,418 (GRCm39) |
S1061T |
possibly damaging |
Het |
Brd10 |
A |
G |
19: 29,763,703 (GRCm39) |
I124T |
|
Het |
Cep83 |
A |
G |
10: 94,604,801 (GRCm39) |
R505G |
possibly damaging |
Het |
Clasp2 |
A |
G |
9: 113,671,045 (GRCm39) |
E382G |
probably benign |
Het |
Cnksr3 |
A |
T |
10: 7,088,379 (GRCm39) |
H235Q |
probably damaging |
Het |
Ctsh |
A |
T |
9: 89,944,815 (GRCm39) |
H90L |
probably benign |
Het |
Cybrd1 |
G |
A |
2: 70,968,742 (GRCm39) |
G205D |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,161,455 (GRCm39) |
I345N |
probably damaging |
Het |
Ech1 |
T |
C |
7: 28,525,446 (GRCm39) |
L67P |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,018,836 (GRCm39) |
N612S |
probably benign |
Het |
Gm8186 |
T |
A |
17: 26,318,092 (GRCm39) |
D35V |
probably damaging |
Het |
Ighv1-15 |
T |
C |
12: 114,621,139 (GRCm39) |
H62R |
probably benign |
Het |
Kcns1 |
A |
T |
2: 164,009,778 (GRCm39) |
L327Q |
probably damaging |
Het |
Lbr |
T |
C |
1: 181,663,837 (GRCm39) |
K61R |
probably benign |
Het |
Mrpl36 |
G |
A |
13: 73,479,498 (GRCm39) |
A3T |
unknown |
Het |
Nek10 |
T |
C |
14: 14,821,139 (GRCm38) |
L35P |
probably benign |
Het |
Nr1d1 |
A |
G |
11: 98,659,883 (GRCm39) |
V547A |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,942,040 (GRCm39) |
I4445N |
probably damaging |
Het |
Or51i2 |
T |
C |
7: 103,689,345 (GRCm39) |
I114T |
probably damaging |
Het |
Pcdhgb1 |
T |
G |
18: 37,814,157 (GRCm39) |
V216G |
probably damaging |
Het |
Pklr |
T |
C |
3: 89,048,636 (GRCm39) |
S100P |
probably damaging |
Het |
R3hdm1 |
T |
A |
1: 128,089,975 (GRCm39) |
S70T |
probably benign |
Het |
Rec114 |
T |
G |
9: 58,567,534 (GRCm39) |
T151P |
probably benign |
Het |
Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
Slc33a1 |
A |
G |
3: 63,871,188 (GRCm39) |
S142P |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,281,055 (GRCm39) |
N407K |
possibly damaging |
Het |
Slc5a4b |
A |
G |
10: 75,898,149 (GRCm39) |
C522R |
probably damaging |
Het |
Tcim |
A |
T |
8: 24,928,878 (GRCm39) |
M12K |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,542,126 (GRCm39) |
Y1917N |
probably damaging |
Het |
Ttll1 |
A |
G |
15: 83,373,779 (GRCm39) |
Y345H |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,589,638 (GRCm39) |
V381A |
probably benign |
Het |
Wnt16 |
T |
C |
6: 22,297,932 (GRCm39) |
M266T |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,311,168 (GRCm39) |
I1562V |
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 |
|
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 |
|
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'- AGTACAAGTTTCCACAGCTTCC -3'
(R):5'- CCTGATAAAAGGGCCGGATTC -3'
Sequencing Primer
(F):5'- CAAGTTTCCACAGCTTCCTTAAAG -3'
(R):5'- AAAGGGCCGGATTCTTTAATTG -3'
|
Posted On |
2022-02-07 |