Incidental Mutation 'R6347:Nectin3'
ID |
520077 |
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 |
044501-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.269)
|
Stock # |
R6347 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 46278487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 303
(V303M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023334]
[ENSMUST00000023335]
[ENSMUST00000096052]
|
AlphaFold |
Q9JLB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023334
AA Change: V303M
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000023334 Gene: ENSMUSG00000022656 AA Change: V303M
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
AA Change: V303M
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000023335 Gene: ENSMUSG00000022656 AA Change: V303M
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
AA Change: V303M
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000093757 Gene: ENSMUSG00000022656 AA Change: V303M
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: V203M
|
SMART Domains |
Protein: ENSMUSP00000117479 Gene: ENSMUSG00000022656 AA Change: V203M
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 |
0.0827 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.3%
|
Validation Efficiency |
95% (41/43) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atat1 |
A |
G |
17: 36,220,921 (GRCm39) |
F3L |
probably damaging |
Het |
Atf7 |
T |
A |
15: 102,454,914 (GRCm39) |
M285L |
possibly damaging |
Het |
Bcl7b |
T |
C |
5: 135,209,387 (GRCm39) |
S95P |
possibly damaging |
Het |
Cald1 |
A |
C |
6: 34,741,981 (GRCm39) |
K453Q |
probably damaging |
Het |
Cimip1 |
G |
T |
2: 173,369,708 (GRCm39) |
R74L |
possibly damaging |
Het |
Cog4 |
A |
T |
8: 111,607,275 (GRCm39) |
I580F |
probably damaging |
Het |
Cpq |
T |
A |
15: 33,290,332 (GRCm39) |
|
probably null |
Het |
Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
Dst |
A |
G |
1: 34,218,765 (GRCm39) |
|
probably null |
Het |
Eif2b3 |
T |
C |
4: 116,901,763 (GRCm39) |
V142A |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,909,668 (GRCm39) |
N2111K |
probably damaging |
Het |
Fbxo31 |
C |
A |
8: 122,305,198 (GRCm39) |
E99D |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,863,487 (GRCm39) |
E34G |
probably damaging |
Het |
Flvcr2 |
T |
C |
12: 85,794,194 (GRCm39) |
V190A |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,844,151 (GRCm39) |
|
probably null |
Het |
Igkv3-2 |
A |
C |
6: 70,676,017 (GRCm39) |
M109L |
probably benign |
Het |
Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
Kif13b |
C |
T |
14: 65,005,068 (GRCm39) |
T1120I |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,515,833 (GRCm39) |
I2670T |
possibly damaging |
Het |
Lcp2 |
A |
G |
11: 34,032,501 (GRCm39) |
M360V |
probably benign |
Het |
Ldlrad4 |
A |
G |
18: 68,368,851 (GRCm39) |
S103G |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,596,709 (GRCm39) |
K88E |
probably damaging |
Het |
Ltbp2 |
C |
A |
12: 84,900,686 (GRCm39) |
R192L |
probably damaging |
Het |
Mast2 |
C |
A |
4: 116,174,929 (GRCm39) |
G475V |
probably damaging |
Het |
Meis1 |
A |
C |
11: 18,855,631 (GRCm39) |
|
probably null |
Het |
Mroh3 |
T |
C |
1: 136,128,675 (GRCm39) |
|
probably null |
Het |
Myo5b |
C |
T |
18: 74,903,456 (GRCm39) |
A1824V |
probably benign |
Het |
Or5p52 |
T |
C |
7: 107,502,157 (GRCm39) |
S78P |
possibly damaging |
Het |
Peak1 |
T |
C |
9: 56,165,495 (GRCm39) |
N811S |
probably benign |
Het |
Pik3ca |
C |
T |
3: 32,516,970 (GRCm39) |
A1066V |
probably benign |
Het |
Rnf103 |
A |
G |
6: 71,482,808 (GRCm39) |
T153A |
possibly damaging |
Het |
Sacs |
G |
A |
14: 61,448,609 (GRCm39) |
V3552I |
probably damaging |
Het |
Sgca |
A |
T |
11: 94,862,854 (GRCm39) |
N109K |
probably damaging |
Het |
Speg |
T |
A |
1: 75,403,519 (GRCm39) |
M2621K |
probably benign |
Het |
Stfa2l1 |
T |
C |
16: 35,977,271 (GRCm39) |
I22T |
probably damaging |
Het |
Tbpl2 |
G |
A |
2: 23,984,715 (GRCm39) |
P144L |
probably benign |
Het |
Tmem219 |
T |
C |
7: 126,495,998 (GRCm39) |
N119S |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,643,084 (GRCm39) |
T4149A |
probably benign |
Het |
Wdr46 |
C |
A |
17: 34,160,826 (GRCm39) |
P197T |
probably damaging |
Het |
Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
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 |
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'- ATCTCTAACACTGCTGCCAG -3'
(R):5'- GCCTTCCCGAGTGATTATGC -3'
Sequencing Primer
(F):5'- CCAGGACAGGATGGTAAGAGAC -3'
(R):5'- CCTTCCCGAGTGATTATGCTGAAAG -3'
|
Posted On |
2018-06-06 |