Incidental Mutation 'R8092:Ntn4'
ID |
629946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntn4
|
Ensembl Gene |
ENSMUSG00000020019 |
Gene Name |
netrin 4 |
Synonyms |
beta-netrin |
MMRRC Submission |
067524-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8092 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 93576918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 529
(K529Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
|
AlphaFold |
Q9JI33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020204
AA Change: K529Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020204 Gene: ENSMUSG00000020019 AA Change: K529Q
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: 99.9%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 97.5%
|
Validation Efficiency |
100% (40/40) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
T |
C |
12: 88,427,831 (GRCm39) |
S483P |
possibly damaging |
Het |
Agr3 |
T |
A |
12: 35,997,593 (GRCm39) |
|
probably null |
Het |
Anxa4 |
T |
C |
6: 86,718,873 (GRCm39) |
D282G |
probably damaging |
Het |
Aplp2 |
A |
C |
9: 31,074,640 (GRCm39) |
|
probably null |
Het |
Arfgef2 |
G |
A |
2: 166,701,754 (GRCm39) |
V714M |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,244,278 (GRCm39) |
F1393I |
probably benign |
Het |
Cfap206 |
G |
A |
4: 34,728,897 (GRCm39) |
P3S |
possibly damaging |
Het |
Chd5 |
T |
A |
4: 152,463,261 (GRCm39) |
D1410E |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,455,184 (GRCm39) |
Y1101C |
probably damaging |
Het |
Chtf8 |
A |
G |
8: 107,612,938 (GRCm39) |
V121A |
possibly damaging |
Het |
Dnajc3 |
A |
T |
14: 119,207,994 (GRCm39) |
|
probably null |
Het |
Dpys |
C |
T |
15: 39,710,010 (GRCm39) |
D140N |
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,415,029 (GRCm39) |
Y642C |
probably damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,272,513 (GRCm39) |
V901I |
probably damaging |
Het |
Gm45861 |
T |
C |
8: 28,057,823 (GRCm39) |
M1127T |
unknown |
Het |
Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
Hsd3b6 |
T |
A |
3: 98,713,456 (GRCm39) |
D281V |
possibly damaging |
Het |
Kng2 |
T |
A |
16: 22,806,672 (GRCm39) |
Q509L |
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,726,880 (GRCm39) |
D52E |
probably benign |
Het |
Ly6g6c |
A |
G |
17: 35,287,867 (GRCm39) |
Y27C |
probably damaging |
Het |
Mcc |
G |
A |
18: 44,892,299 (GRCm39) |
T105I |
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,801,891 (GRCm39) |
K1279E |
probably benign |
Het |
Ntmt2 |
A |
G |
1: 163,544,819 (GRCm39) |
Y55H |
probably damaging |
Het |
Or4f57 |
C |
A |
2: 111,790,652 (GRCm39) |
M255I |
probably benign |
Het |
P2ry14 |
C |
T |
3: 59,022,867 (GRCm39) |
V198M |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,727,560 (GRCm39) |
D2139E |
unknown |
Het |
Plxnb1 |
T |
A |
9: 108,929,573 (GRCm39) |
V143E |
probably damaging |
Het |
Prune2 |
G |
T |
19: 17,097,357 (GRCm39) |
D954Y |
probably damaging |
Het |
Qrsl1 |
G |
A |
10: 43,760,749 (GRCm39) |
P278L |
probably damaging |
Het |
Rnf17 |
C |
T |
14: 56,724,479 (GRCm39) |
R1108C |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,145,907 (GRCm39) |
S1716G |
probably benign |
Het |
Slfn4 |
A |
T |
11: 83,079,831 (GRCm39) |
H507L |
probably benign |
Het |
Snx18 |
T |
C |
13: 113,753,685 (GRCm39) |
E416G |
probably damaging |
Het |
Srp9 |
T |
C |
1: 181,959,001 (GRCm39) |
V81A |
probably benign |
Het |
Tex101 |
G |
A |
7: 24,369,778 (GRCm39) |
T62M |
probably damaging |
Het |
Utp25 |
G |
A |
1: 192,802,671 (GRCm39) |
L349F |
probably benign |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Zbtb42 |
G |
T |
12: 112,646,275 (GRCm39) |
C150F |
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 |
|
R8202:Ntn4
|
UTSW |
10 |
93,480,765 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8508:Ntn4
|
UTSW |
10 |
93,576,966 (GRCm39) |
missense |
possibly damaging |
0.48 |
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'- TATAACAGAAGACAGCCAATGTGC -3'
Sequencing Primer
(F):5'- GCCTCATGACCTTAAAAGCAGGTTTC -3'
(R):5'- ATGGAAAGTCTAACCGGTCTC -3'
|
Posted On |
2020-06-30 |