Incidental Mutation 'R6360:Nectin3'
ID |
513093 |
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 |
044510-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R6360 (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 A
at 46231472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 21
(T21S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112567
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023335]
[ENSMUST00000119941]
[ENSMUST00000121245]
[ENSMUST00000121803]
|
AlphaFold |
Q9JLB9 |
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: ENSMUST00000119941
AA Change: T21S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121803
AA Change: T21S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (59/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
G |
A |
8: 77,985,831 (GRCm39) |
Q657* |
probably null |
Het |
Car15 |
T |
C |
16: 17,655,930 (GRCm39) |
T560A |
probably benign |
Het |
Cass4 |
C |
T |
2: 172,274,531 (GRCm39) |
H769Y |
probably damaging |
Het |
Cdh6 |
A |
G |
15: 13,041,546 (GRCm39) |
I506T |
possibly damaging |
Het |
Clstn3 |
G |
T |
6: 124,415,388 (GRCm39) |
R659S |
possibly damaging |
Het |
Cntnap5b |
C |
T |
1: 100,359,461 (GRCm39) |
R695* |
probably null |
Het |
Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
Dab2ip |
A |
G |
2: 35,600,278 (GRCm39) |
H355R |
probably benign |
Het |
Dennd2a |
C |
T |
6: 39,470,076 (GRCm39) |
A539T |
probably benign |
Het |
Dnajc18 |
T |
C |
18: 35,819,762 (GRCm39) |
E173G |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,857,899 (GRCm39) |
I1472V |
probably benign |
Het |
Esco1 |
A |
T |
18: 10,574,931 (GRCm39) |
F714I |
probably damaging |
Het |
Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
Flg |
A |
G |
3: 93,197,908 (GRCm39) |
|
probably benign |
Het |
Fyn |
C |
A |
10: 39,402,879 (GRCm39) |
T217K |
possibly damaging |
Het |
Gbp9 |
T |
C |
5: 105,231,596 (GRCm39) |
D330G |
probably benign |
Het |
Gin1 |
T |
C |
1: 97,720,264 (GRCm39) |
S509P |
possibly damaging |
Het |
Gm17067 |
A |
C |
7: 42,357,906 (GRCm39) |
S199A |
probably benign |
Het |
Grk4 |
A |
T |
5: 34,831,881 (GRCm39) |
K50M |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,629,481 (GRCm39) |
H272R |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,626,336 (GRCm39) |
L48Q |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,191 (GRCm39) |
I515T |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,351,208 (GRCm39) |
S190R |
possibly damaging |
Het |
Kpnb1 |
T |
C |
11: 97,064,096 (GRCm39) |
N336S |
probably benign |
Het |
Lbr |
G |
T |
1: 181,659,720 (GRCm39) |
D158E |
probably benign |
Het |
Mphosph10 |
T |
C |
7: 64,039,703 (GRCm39) |
Q89R |
probably benign |
Het |
Numb |
C |
A |
12: 83,844,036 (GRCm39) |
R383L |
probably damaging |
Het |
Or2p2 |
A |
T |
13: 21,256,753 (GRCm39) |
N239K |
probably damaging |
Het |
Or9a7 |
G |
T |
6: 40,521,647 (GRCm39) |
Q89K |
possibly damaging |
Het |
Pcdhb11 |
A |
T |
18: 37,555,212 (GRCm39) |
I181F |
probably benign |
Het |
Pcgf2 |
T |
A |
11: 97,583,235 (GRCm39) |
|
probably null |
Het |
Pdzd8 |
T |
C |
19: 59,289,415 (GRCm39) |
T662A |
probably benign |
Het |
Pex13 |
A |
C |
11: 23,605,690 (GRCm39) |
V180G |
probably benign |
Het |
Pira1 |
A |
T |
7: 3,739,503 (GRCm39) |
L455Q |
probably damaging |
Het |
Pkp4 |
T |
A |
2: 59,045,091 (GRCm39) |
V22D |
probably benign |
Het |
Prkn |
T |
C |
17: 12,222,939 (GRCm39) |
F363S |
probably damaging |
Het |
Prpf4b |
A |
C |
13: 35,085,416 (GRCm39) |
D954A |
probably damaging |
Het |
Rfx8 |
T |
C |
1: 39,720,125 (GRCm39) |
I317V |
probably benign |
Het |
Rnaseh2b |
T |
C |
14: 62,598,868 (GRCm39) |
S198P |
probably damaging |
Het |
Rock1 |
A |
T |
18: 10,116,778 (GRCm39) |
C453S |
possibly damaging |
Het |
Saxo4 |
T |
C |
19: 10,456,845 (GRCm39) |
N167D |
probably damaging |
Het |
Scarf1 |
G |
T |
11: 75,406,495 (GRCm39) |
G260W |
probably damaging |
Het |
Scyl1 |
T |
C |
19: 5,810,599 (GRCm39) |
E538G |
probably damaging |
Het |
Sec14l5 |
A |
T |
16: 4,990,859 (GRCm39) |
I267F |
probably damaging |
Het |
Senp6 |
T |
A |
9: 80,021,088 (GRCm39) |
V256D |
probably benign |
Het |
Sf3b4 |
G |
A |
3: 96,084,044 (GRCm39) |
|
probably benign |
Het |
Ssh1 |
T |
C |
5: 114,099,408 (GRCm39) |
|
probably null |
Het |
Tas2r143 |
A |
C |
6: 42,377,769 (GRCm39) |
M200L |
probably benign |
Het |
Tbc1d22a |
C |
T |
15: 86,098,830 (GRCm39) |
P19S |
probably damaging |
Het |
Tent5b |
T |
C |
4: 133,214,067 (GRCm39) |
F313L |
probably damaging |
Het |
Tmc5 |
T |
A |
7: 118,233,189 (GRCm39) |
M1K |
probably null |
Het |
Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,468,866 (GRCm39) |
E285G |
probably damaging |
Het |
Txndc11 |
C |
T |
16: 10,902,656 (GRCm39) |
V664M |
probably damaging |
Het |
Ube2g1 |
A |
T |
11: 72,553,908 (GRCm39) |
N20Y |
probably damaging |
Het |
Ufl1 |
T |
A |
4: 25,265,476 (GRCm39) |
I369L |
probably benign |
Het |
Vwf |
A |
T |
6: 125,660,489 (GRCm39) |
T2666S |
probably benign |
Het |
Yif1a |
A |
G |
19: 5,142,369 (GRCm39) |
M259V |
probably benign |
Het |
Zbtb46 |
T |
C |
2: 181,033,248 (GRCm39) |
D471G |
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 |
R6347:Nectin3
|
UTSW |
16 |
46,278,487 (GRCm39) |
missense |
probably benign |
0.01 |
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'- GAGACCTCCTTGGATACCATTAGG -3'
(R):5'- AGTCTCAGATGTTACGGGCC -3'
Sequencing Primer
(F):5'- TTGGATACCATTAGGAACCCCG -3'
(R):5'- TCCGAGTATTGTGATAAAGGGG -3'
|
Posted On |
2018-04-27 |