Incidental Mutation 'R6869:Nectin3'
ID |
536116 |
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 |
044966-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R6869 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
46208069-46318888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 46215506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 79
(R79C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023335]
[ENSMUST00000119941]
[ENSMUST00000121245]
[ENSMUST00000121803]
|
AlphaFold |
Q9JLB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023335
AA Change: R496C
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000023335 Gene: ENSMUSG00000022656 AA Change: R496C
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 damaging
Transcript: ENSMUST00000119941
AA Change: R79C
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121245
AA Change: R171C
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113146 Gene: ENSMUSG00000022656 AA Change: R171C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121803
AA Change: R86C
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124602
|
SMART Domains |
Protein: ENSMUSP00000115927 Gene: ENSMUSG00000022656
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (61/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
T |
4: 144,507,042 (GRCm39) |
|
probably null |
Het |
Ankdd1b |
A |
T |
13: 96,580,799 (GRCm39) |
N166K |
possibly damaging |
Het |
Arhgap30 |
G |
T |
1: 171,236,623 (GRCm39) |
R999L |
probably damaging |
Het |
Bnc2 |
T |
A |
4: 84,211,733 (GRCm39) |
D212V |
probably damaging |
Het |
Bpifb5 |
T |
C |
2: 154,075,143 (GRCm39) |
I357T |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,446,996 (GRCm39) |
F208S |
probably benign |
Het |
Cc2d2b |
T |
A |
19: 40,797,898 (GRCm39) |
H1105Q |
probably benign |
Het |
Chchd6 |
T |
C |
6: 89,572,478 (GRCm39) |
D17G |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,807,650 (GRCm39) |
S1855G |
probably benign |
Het |
Cpe |
A |
G |
8: 65,072,461 (GRCm39) |
V143A |
probably benign |
Het |
Cyfip1 |
T |
A |
7: 55,557,113 (GRCm39) |
V770D |
possibly damaging |
Het |
Cyp1a1 |
A |
T |
9: 57,610,067 (GRCm39) |
M494L |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
Dnah2 |
T |
A |
11: 69,320,297 (GRCm39) |
N3924I |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,316,481 (GRCm39) |
E76G |
probably damaging |
Het |
Fam91a1 |
T |
A |
15: 58,303,117 (GRCm39) |
V342E |
probably benign |
Het |
Fastkd1 |
G |
A |
2: 69,533,104 (GRCm39) |
A421V |
probably benign |
Het |
Fgf20 |
T |
C |
8: 40,734,189 (GRCm39) |
Y64C |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,291,442 (GRCm39) |
N847K |
probably benign |
Het |
Gm4922 |
A |
T |
10: 18,660,263 (GRCm39) |
I153K |
probably damaging |
Het |
Gm6619 |
T |
C |
6: 131,463,401 (GRCm39) |
I6T |
unknown |
Het |
H2-Ab1 |
T |
C |
17: 34,486,537 (GRCm39) |
Y199H |
probably damaging |
Het |
Hdac7 |
C |
A |
15: 97,694,057 (GRCm39) |
L737F |
probably damaging |
Het |
Hells |
A |
G |
19: 38,929,079 (GRCm39) |
N121D |
probably benign |
Het |
Itga2 |
G |
A |
13: 115,012,073 (GRCm39) |
|
probably null |
Het |
Itgb1 |
A |
G |
8: 129,446,516 (GRCm39) |
D391G |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lbx1 |
T |
A |
19: 45,223,390 (GRCm39) |
S93C |
probably damaging |
Het |
Lmod2 |
T |
C |
6: 24,604,126 (GRCm39) |
M367T |
probably benign |
Het |
Lrrc43 |
G |
A |
5: 123,642,339 (GRCm39) |
|
probably null |
Het |
Man2a2 |
C |
T |
7: 80,012,693 (GRCm39) |
G574D |
probably benign |
Het |
Mier2 |
T |
G |
10: 79,378,503 (GRCm39) |
K343T |
probably damaging |
Het |
Msh5 |
A |
T |
17: 35,260,810 (GRCm39) |
|
probably null |
Het |
Mtus1 |
T |
C |
8: 41,535,691 (GRCm39) |
Q675R |
possibly damaging |
Het |
Ncan |
A |
T |
8: 70,560,557 (GRCm39) |
H803Q |
probably benign |
Het |
Nckap5l |
A |
G |
15: 99,324,334 (GRCm39) |
V723A |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,248,583 (GRCm39) |
E1735G |
probably benign |
Het |
Nrros |
A |
G |
16: 31,963,249 (GRCm39) |
L220S |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,075 (GRCm39) |
V112M |
possibly damaging |
Het |
Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
Oxa1l |
C |
T |
14: 54,604,195 (GRCm39) |
P152S |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,484,174 (GRCm39) |
Y818H |
unknown |
Het |
Pik3cb |
A |
T |
9: 98,942,312 (GRCm39) |
S682T |
probably benign |
Het |
Ppp1r3a |
A |
C |
6: 14,754,825 (GRCm39) |
S141A |
probably benign |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
C |
10: 28,349,055 (GRCm39) |
|
probably null |
Het |
Ranbp17 |
T |
C |
11: 33,463,074 (GRCm39) |
|
probably benign |
Het |
Rcbtb1 |
T |
C |
14: 59,455,051 (GRCm39) |
V95A |
probably benign |
Het |
Retreg3 |
G |
A |
11: 101,010,644 (GRCm39) |
|
probably benign |
Het |
Rhobtb1 |
T |
C |
10: 69,106,056 (GRCm39) |
L207P |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,007,860 (GRCm39) |
Y75C |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,520,761 (GRCm39) |
D763G |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,024,810 (GRCm39) |
V596E |
possibly damaging |
Het |
Tas2r138 |
A |
G |
6: 40,589,355 (GRCm39) |
I297T |
probably damaging |
Het |
Topors |
A |
C |
4: 40,261,201 (GRCm39) |
N694K |
unknown |
Het |
Tymp |
T |
C |
15: 89,260,894 (GRCm39) |
R20G |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,194,538 (GRCm39) |
T1144A |
possibly damaging |
Het |
Unc79 |
A |
T |
12: 103,079,331 (GRCm39) |
Q1636L |
probably benign |
Het |
Vmn1r78 |
A |
G |
7: 11,886,676 (GRCm39) |
M96V |
probably benign |
Het |
Wfdc8 |
C |
T |
2: 164,441,012 (GRCm39) |
D244N |
possibly damaging |
Het |
Zbtb49 |
G |
T |
5: 38,371,694 (GRCm39) |
N62K |
probably damaging |
Het |
Zfp579 |
G |
T |
7: 4,997,460 (GRCm39) |
D150E |
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 |
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'- AGCTCTGATTCGTCCATCG -3'
(R):5'- CATCCAGTTCCTTTGAGGGGTAG -3'
Sequencing Primer
(F):5'- CGATCGTTGCAACACACTTTAAG -3'
(R):5'- TGTTTTCACCAGTGTCCTAGAAG -3'
|
Posted On |
2018-10-18 |