Incidental Mutation 'R8508:Ntn4'
ID |
655705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntn4
|
Ensembl Gene |
ENSMUSG00000020019 |
Gene Name |
netrin 4 |
Synonyms |
beta-netrin |
MMRRC Submission |
067844-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8508 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93576966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 545
(N545Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
|
AlphaFold |
Q9JI33 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020204
AA Change: N545Y
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020204 Gene: ENSMUSG00000020019 AA Change: N545Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
LamNT
|
28 |
260 |
6.48e-55 |
SMART |
EGF_Lam
|
262 |
329 |
5.83e-7 |
SMART |
EGF_Lam
|
332 |
392 |
3.32e-11 |
SMART |
EGF_Lam
|
395 |
446 |
3.73e-14 |
SMART |
C345C
|
516 |
625 |
5.58e-25 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
Validation Efficiency |
|
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 netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation in the cornea without an increase in corneal thickness and increased microvessel branching in the middle levels of the retina. [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 |
4932438H23Rik |
T |
G |
16: 90,852,500 (GRCm39) |
Y212S |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,375,795 (GRCm39) |
N154D |
probably damaging |
Het |
Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
Ankrd27 |
T |
A |
7: 35,301,051 (GRCm39) |
L117* |
probably null |
Het |
Arhgap21 |
C |
T |
2: 20,858,991 (GRCm39) |
M1234I |
probably benign |
Het |
Arhgef33 |
A |
G |
17: 80,674,764 (GRCm39) |
E387G |
probably damaging |
Het |
Atp13a4 |
T |
A |
16: 29,273,587 (GRCm39) |
K444* |
probably null |
Het |
Atp6v1a |
G |
A |
16: 43,922,225 (GRCm39) |
R338C |
probably damaging |
Het |
Canx |
T |
C |
11: 50,202,474 (GRCm39) |
D44G |
possibly damaging |
Het |
Ccdc141 |
T |
A |
2: 76,962,588 (GRCm39) |
M119L |
probably benign |
Het |
Ckmt1 |
A |
C |
2: 121,193,172 (GRCm39) |
Q299P |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,196,812 (GRCm39) |
S601P |
probably damaging |
Het |
Dna2 |
A |
C |
10: 62,786,673 (GRCm39) |
R140S |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,384,138 (GRCm39) |
T670A |
probably benign |
Het |
Eif1ad10 |
T |
G |
12: 88,216,455 (GRCm39) |
E139A |
unknown |
Het |
Eogt |
A |
G |
6: 97,120,959 (GRCm39) |
S85P |
possibly damaging |
Het |
Fbf1 |
A |
T |
11: 116,056,707 (GRCm39) |
M1K |
probably null |
Het |
Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
Flnb |
G |
A |
14: 7,950,394 (GRCm38) |
V2571I |
probably damaging |
Het |
Gm43518 |
A |
G |
5: 124,076,322 (GRCm39) |
E123G |
unknown |
Het |
Gpatch2 |
A |
G |
1: 187,036,552 (GRCm39) |
N374S |
probably benign |
Het |
Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
Hoxa11 |
T |
C |
6: 52,222,782 (GRCm39) |
|
probably benign |
Het |
Hydin |
G |
A |
8: 111,308,650 (GRCm39) |
V3979I |
probably benign |
Het |
Ighe |
C |
T |
12: 113,235,413 (GRCm39) |
W277* |
probably null |
Het |
Kmt2c |
G |
T |
5: 25,519,120 (GRCm39) |
T2330K |
probably benign |
Het |
Krt6a |
T |
A |
15: 101,601,170 (GRCm39) |
K261M |
probably damaging |
Het |
Lats2 |
A |
C |
14: 57,960,162 (GRCm39) |
S161A |
probably benign |
Het |
Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
Mphosph8 |
A |
T |
14: 56,914,003 (GRCm39) |
K415* |
probably null |
Het |
Npepps |
A |
G |
11: 97,135,252 (GRCm39) |
|
probably null |
Het |
Or11g1 |
A |
C |
14: 50,651,132 (GRCm39) |
M44L |
probably benign |
Het |
Or1n1b |
A |
G |
2: 36,780,366 (GRCm39) |
S165P |
probably damaging |
Het |
Or2m12 |
T |
C |
16: 19,105,451 (GRCm39) |
D14G |
probably benign |
Het |
Or9i2 |
A |
T |
19: 13,815,766 (GRCm39) |
M257K |
possibly damaging |
Het |
Osbpl2 |
T |
A |
2: 179,797,136 (GRCm39) |
V358E |
possibly damaging |
Het |
Pdcd11 |
C |
A |
19: 47,108,245 (GRCm39) |
P1204Q |
probably damaging |
Het |
Pnliprp2 |
A |
C |
19: 58,751,806 (GRCm39) |
S184R |
probably damaging |
Het |
Ppm1g |
G |
T |
5: 31,361,872 (GRCm39) |
R373S |
probably damaging |
Het |
Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
Rps18-ps5 |
A |
G |
13: 28,441,694 (GRCm39) |
I26V |
probably benign |
Het |
Setd5 |
T |
C |
6: 113,098,048 (GRCm39) |
S696P |
probably damaging |
Het |
Sgip1 |
A |
G |
4: 102,772,268 (GRCm39) |
Q219R |
probably benign |
Het |
Slc1a2 |
T |
C |
2: 102,566,430 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
T |
C |
19: 6,592,467 (GRCm39) |
T106A |
probably benign |
Het |
Slc22a14 |
A |
G |
9: 119,009,651 (GRCm39) |
L148P |
probably damaging |
Het |
Slc2a9 |
A |
T |
5: 38,539,421 (GRCm39) |
F375I |
probably damaging |
Het |
Sorbs3 |
A |
T |
14: 70,440,396 (GRCm39) |
D117E |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,891,412 (GRCm39) |
L136P |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,254,221 (GRCm39) |
T1176I |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,419,046 (GRCm39) |
V193D |
probably damaging |
Het |
Sytl3 |
A |
G |
17: 6,995,690 (GRCm39) |
T362A |
probably damaging |
Het |
Tctn1 |
T |
A |
5: 122,384,674 (GRCm39) |
Q410L |
probably benign |
Het |
Trbc2 |
T |
C |
6: 41,524,711 (GRCm39) |
Y133H |
|
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Vmn2r120 |
A |
G |
17: 57,832,843 (GRCm39) |
V112A |
probably benign |
Het |
Zfp354b |
A |
T |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
Zfp362 |
T |
C |
4: 128,668,399 (GRCm39) |
H391R |
probably damaging |
Het |
|
Other mutations in Ntn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02052:Ntn4
|
APN |
10 |
93,543,211 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02212:Ntn4
|
APN |
10 |
93,480,711 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02698:Ntn4
|
APN |
10 |
93,480,521 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02752:Ntn4
|
APN |
10 |
93,546,421 (GRCm39) |
missense |
possibly damaging |
0.84 |
PIT4468001:Ntn4
|
UTSW |
10 |
93,480,587 (GRCm39) |
missense |
probably damaging |
0.99 |
R0131:Ntn4
|
UTSW |
10 |
93,480,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0131:Ntn4
|
UTSW |
10 |
93,480,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0132:Ntn4
|
UTSW |
10 |
93,480,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0419:Ntn4
|
UTSW |
10 |
93,518,291 (GRCm39) |
missense |
probably benign |
0.04 |
R1304:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1306:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1307:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1308:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1619:Ntn4
|
UTSW |
10 |
93,480,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R1645:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1664:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1695:Ntn4
|
UTSW |
10 |
93,569,464 (GRCm39) |
splice site |
probably null |
|
R1796:Ntn4
|
UTSW |
10 |
93,581,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R1806:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1845:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1856:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1872:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1879:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1901:Ntn4
|
UTSW |
10 |
93,543,234 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1902:Ntn4
|
UTSW |
10 |
93,543,234 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1925:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1926:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1927:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2060:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2113:Ntn4
|
UTSW |
10 |
93,480,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R2202:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2203:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2975:Ntn4
|
UTSW |
10 |
93,480,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R4277:Ntn4
|
UTSW |
10 |
93,577,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4805:Ntn4
|
UTSW |
10 |
93,480,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R4806:Ntn4
|
UTSW |
10 |
93,480,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R4807:Ntn4
|
UTSW |
10 |
93,480,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R5818:Ntn4
|
UTSW |
10 |
93,480,626 (GRCm39) |
missense |
probably benign |
0.40 |
R6048:Ntn4
|
UTSW |
10 |
93,543,128 (GRCm39) |
splice site |
probably null |
|
R6051:Ntn4
|
UTSW |
10 |
93,581,657 (GRCm39) |
missense |
probably benign |
|
R6346:Ntn4
|
UTSW |
10 |
93,480,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R6752:Ntn4
|
UTSW |
10 |
93,570,037 (GRCm39) |
missense |
probably benign |
|
R7196:Ntn4
|
UTSW |
10 |
93,569,576 (GRCm39) |
missense |
probably benign |
0.01 |
R7240:Ntn4
|
UTSW |
10 |
93,581,603 (GRCm39) |
missense |
probably damaging |
0.99 |
R7365:Ntn4
|
UTSW |
10 |
93,480,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R7374:Ntn4
|
UTSW |
10 |
93,518,434 (GRCm39) |
missense |
probably benign |
|
R7505:Ntn4
|
UTSW |
10 |
93,543,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7509:Ntn4
|
UTSW |
10 |
93,546,430 (GRCm39) |
missense |
probably benign |
0.01 |
R7726:Ntn4
|
UTSW |
10 |
93,569,544 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7957:Ntn4
|
UTSW |
10 |
93,480,335 (GRCm39) |
splice site |
probably benign |
|
R8092:Ntn4
|
UTSW |
10 |
93,576,918 (GRCm39) |
missense |
probably damaging |
0.97 |
R8202:Ntn4
|
UTSW |
10 |
93,480,765 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9008:Ntn4
|
UTSW |
10 |
93,569,466 (GRCm39) |
splice site |
probably benign |
|
R9010:Ntn4
|
UTSW |
10 |
93,480,506 (GRCm39) |
missense |
|
|
R9115:Ntn4
|
UTSW |
10 |
93,569,675 (GRCm39) |
missense |
probably benign |
|
R9415:Ntn4
|
UTSW |
10 |
93,480,488 (GRCm39) |
missense |
probably benign |
0.00 |
RF045:Ntn4
|
UTSW |
10 |
93,546,487 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0024:Ntn4
|
UTSW |
10 |
93,480,833 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ntn4
|
UTSW |
10 |
93,577,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTGCAAGGGTGAATGAGC -3'
(R):5'- ATATAACAGAAGACAGCCAATGTGC -3'
Sequencing Primer
(F):5'- GCCTCATGACCTTAAAAGCAGGTTTC -3'
(R):5'- CAGCCAATGTGCAGAGGTCAC -3'
|
Posted On |
2020-10-20 |