Incidental Mutation 'R4523:Nectin3'
| ID |
334329 |
| 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 |
042004-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R4523 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46268953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 483
(R483L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023334]
[ENSMUST00000023335]
[ENSMUST00000096052]
[ENSMUST00000121245]
|
| AlphaFold |
Q9JLB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023334
AA Change: R483L
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000023334
Gene: ENSMUSG00000022656
AA Change: R483L
| 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 |
|
| Meta Mutation Damage Score |
0.0842 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
G |
T |
5: 67,824,943 (GRCm39) |
T796K |
probably benign |
Het |
| Atr |
T |
C |
9: 95,744,916 (GRCm39) |
S78P |
probably damaging |
Het |
| Calb2 |
C |
T |
8: 110,875,141 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdca7 |
A |
G |
2: 72,310,042 (GRCm39) |
S77G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,553,601 (GRCm39) |
N291K |
possibly damaging |
Het |
| Cnot2 |
C |
T |
10: 116,417,379 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
A |
19: 31,060,482 (GRCm39) |
V6D |
possibly damaging |
Het |
| Cybc1 |
A |
G |
11: 121,114,934 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,314,085 (GRCm39) |
I852V |
probably damaging |
Het |
| Dmgdh |
C |
T |
13: 93,825,138 (GRCm39) |
Q154* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,491,979 (GRCm39) |
F1138S |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,598,915 (GRCm39) |
A998T |
possibly damaging |
Het |
| Dusp5 |
T |
G |
19: 53,526,032 (GRCm39) |
Y225D |
probably damaging |
Het |
| Fam193a |
G |
A |
5: 34,600,715 (GRCm39) |
D601N |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,715,277 (GRCm39) |
K115R |
probably benign |
Het |
| Gak |
G |
T |
5: 108,724,432 (GRCm39) |
Q1093K |
probably benign |
Het |
| Gm5277 |
G |
T |
3: 78,799,493 (GRCm39) |
|
noncoding transcript |
Het |
| Hgsnat |
A |
G |
8: 26,458,389 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,120 (GRCm39) |
T410A |
probably benign |
Het |
| Irag1 |
T |
C |
7: 110,523,048 (GRCm39) |
M338V |
probably benign |
Het |
| Map3k3 |
G |
A |
11: 106,039,694 (GRCm39) |
R278H |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,555,154 (GRCm39) |
|
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,496,791 (GRCm39) |
I474T |
probably benign |
Het |
| Optc |
G |
T |
1: 133,831,492 (GRCm39) |
T138K |
possibly damaging |
Het |
| Or7g25 |
T |
C |
9: 19,160,525 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k22 |
C |
G |
2: 86,163,644 (GRCm39) |
D19H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pard3 |
C |
T |
8: 128,125,108 (GRCm39) |
P421S |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,653,474 (GRCm39) |
E647D |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,730,006 (GRCm39) |
|
probably benign |
Het |
| Prkce |
G |
T |
17: 86,798,178 (GRCm39) |
|
probably null |
Het |
| Prr12 |
T |
C |
7: 44,697,947 (GRCm39) |
D656G |
unknown |
Het |
| Ptprk |
A |
T |
10: 28,342,048 (GRCm39) |
D485V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,839,620 (GRCm39) |
L381P |
probably damaging |
Het |
| Rnf144b |
T |
C |
13: 47,361,013 (GRCm39) |
I51T |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,240,711 (GRCm39) |
V118E |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,219,163 (GRCm39) |
G58D |
probably damaging |
Het |
| Slc5a4a |
C |
T |
10: 75,984,196 (GRCm39) |
A46V |
probably damaging |
Het |
| Spmip8 |
T |
A |
8: 96,039,638 (GRCm39) |
Y18* |
probably null |
Het |
| Tgm7 |
C |
A |
2: 120,929,069 (GRCm39) |
|
probably null |
Het |
| Tjap1 |
A |
G |
17: 46,569,718 (GRCm39) |
V424A |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,773,864 (GRCm39) |
I414F |
probably damaging |
Het |
| Tsr3 |
C |
G |
17: 25,460,723 (GRCm39) |
D196E |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,941,409 (GRCm39) |
D68G |
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 |
|
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 |
|
|
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'- TAGTGAAGTCGCGTCAGTGG -3'
(R):5'- TATTCTGCTATAGGAGACGACGG -3'
Sequencing Primer
(F):5'- CGTCAGTGGCTGTTAGACATACC -3'
(R):5'- ACGGACGTTTCGTGGAGACTAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation