Incidental Mutation 'R7509:Ntn4'
| ID |
581968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntn4
|
| Ensembl Gene |
ENSMUSG00000020019 |
| Gene Name |
netrin 4 |
| Synonyms |
beta-netrin |
| MMRRC Submission |
045582-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7509 (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 G
at 93546430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 361
(N361S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
|
| AlphaFold |
Q9JI33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020204
AA Change: N361S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: N361S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
A |
G |
7: 119,133,611 (GRCm39) |
S259G |
probably benign |
Het |
| Adamts16 |
G |
T |
13: 70,935,283 (GRCm39) |
N436K |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 30,948,507 (GRCm39) |
M61K |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,905,078 (GRCm39) |
T163A |
possibly damaging |
Het |
| Ccser2 |
A |
G |
14: 36,660,602 (GRCm39) |
L517P |
probably damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,195 (GRCm39) |
T158A |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,855,074 (GRCm39) |
I778N |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,056,097 (GRCm39) |
V336A |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,688,702 (GRCm39) |
V857I |
probably benign |
Het |
| Cpm |
A |
G |
10: 117,495,745 (GRCm39) |
Y78C |
probably damaging |
Het |
| Cst7 |
A |
T |
2: 150,419,624 (GRCm39) |
T97S |
probably benign |
Het |
| Cttnbp2nl |
T |
C |
3: 104,940,046 (GRCm39) |
K8E |
possibly damaging |
Het |
| Erbb4 |
A |
T |
1: 68,289,739 (GRCm39) |
D767E |
possibly damaging |
Het |
| Esyt2 |
T |
C |
12: 116,329,496 (GRCm39) |
S685P |
probably damaging |
Het |
| Fam110d |
A |
C |
4: 133,979,424 (GRCm39) |
V18G |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,930,256 (GRCm39) |
L641P |
probably damaging |
Het |
| Gcnt4 |
T |
A |
13: 97,083,678 (GRCm39) |
F325I |
probably benign |
Het |
| Glg1 |
T |
G |
8: 111,985,675 (GRCm39) |
S52R |
probably benign |
Het |
| Gm10577 |
G |
A |
4: 100,877,848 (GRCm39) |
L16F |
unknown |
Het |
| Gm14326 |
C |
T |
2: 177,587,493 (GRCm39) |
G501D |
probably benign |
Het |
| Gm1587 |
G |
A |
14: 78,034,464 (GRCm39) |
P35S |
unknown |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,925,719 (GRCm39) |
H886L |
probably damaging |
Het |
| Hgsnat |
A |
G |
8: 26,445,754 (GRCm39) |
V380A |
probably damaging |
Het |
| Hmbs |
T |
A |
9: 44,248,208 (GRCm39) |
R125S |
|
Het |
| Hsd17b4 |
A |
T |
18: 50,297,749 (GRCm39) |
Y346F |
probably damaging |
Het |
| Inpp4a |
T |
C |
1: 37,426,911 (GRCm39) |
L624P |
probably damaging |
Het |
| Irak2 |
AC |
ACC |
6: 113,667,859 (GRCm39) |
|
probably null |
Het |
| Itga11 |
C |
T |
9: 62,689,222 (GRCm39) |
T1129I |
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,617,404 (GRCm39) |
V575I |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,816,187 (GRCm39) |
T473A |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,032,360 (GRCm39) |
V31A |
probably damaging |
Het |
| Lrch1 |
G |
A |
14: 75,185,048 (GRCm39) |
T18I |
probably benign |
Het |
| Ly6e |
T |
C |
15: 74,830,135 (GRCm39) |
F30L |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,886,995 (GRCm39) |
D1632G |
probably damaging |
Het |
| Mei4 |
T |
A |
9: 81,907,630 (GRCm39) |
L320Q |
probably damaging |
Het |
| Mlip |
T |
G |
9: 77,088,678 (GRCm39) |
T197P |
probably damaging |
Het |
| Mon2 |
G |
A |
10: 122,868,457 (GRCm39) |
A532V |
probably benign |
Het |
| Myh1 |
C |
T |
11: 67,101,287 (GRCm39) |
P688S |
probably benign |
Het |
| Ncapg |
G |
A |
5: 45,853,450 (GRCm39) |
D900N |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nudt16l1 |
T |
A |
16: 4,757,082 (GRCm39) |
H26Q |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,455 (GRCm39) |
T4348I |
probably benign |
Het |
| Or10d4b |
T |
A |
9: 39,534,623 (GRCm39) |
I66N |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,260,868 (GRCm39) |
M157K |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
| Pcdhb7 |
C |
A |
18: 37,475,074 (GRCm39) |
T70K |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,910 (GRCm39) |
Y454* |
probably null |
Het |
| Pigc |
A |
T |
1: 161,798,545 (GRCm39) |
T176S |
probably benign |
Het |
| Pola2 |
A |
T |
19: 6,011,194 (GRCm39) |
S43R |
probably benign |
Het |
| Pole |
A |
T |
5: 110,478,571 (GRCm39) |
|
probably benign |
Het |
| Polq |
C |
A |
16: 36,880,705 (GRCm39) |
D956E |
probably benign |
Het |
| Polq |
T |
A |
16: 36,880,706 (GRCm39) |
C957S |
probably benign |
Het |
| Ppp3cc |
G |
A |
14: 70,504,131 (GRCm39) |
T107I |
probably damaging |
Het |
| Prss39 |
C |
A |
1: 34,539,280 (GRCm39) |
H173Q |
possibly damaging |
Het |
| Reep4 |
A |
G |
14: 70,785,928 (GRCm39) |
D256G |
probably benign |
Het |
| Rfc3 |
A |
G |
5: 151,570,975 (GRCm39) |
V107A |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,003,981 (GRCm39) |
L40P |
probably damaging |
Het |
| Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
| Strada |
C |
A |
11: 106,077,920 (GRCm39) |
V15F |
unknown |
Het |
| Suco |
A |
T |
1: 161,672,903 (GRCm39) |
S440T |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,090,683 (GRCm39) |
C1595S |
probably benign |
Het |
| Synpo |
G |
T |
18: 60,736,566 (GRCm39) |
T460K |
probably damaging |
Het |
| Tagap |
A |
T |
17: 8,147,568 (GRCm39) |
I93F |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,301,956 (GRCm39) |
F331Y |
probably damaging |
Het |
| Tnpo1 |
A |
C |
13: 99,006,751 (GRCm39) |
I225M |
probably benign |
Het |
| Tollip |
A |
T |
7: 141,445,878 (GRCm39) |
M70K |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,691,842 (GRCm39) |
I171N |
probably damaging |
Het |
| Ttc41 |
G |
T |
10: 86,549,296 (GRCm39) |
E163D |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,695 (GRCm39) |
T189S |
probably benign |
Het |
| Vmn2r20 |
C |
T |
6: 123,362,382 (GRCm39) |
V801I |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,231,842 (GRCm39) |
V614I |
possibly damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,802,995 (GRCm39) |
E302K |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,619,132 (GRCm39) |
F1270S |
|
Het |
| Wdr3 |
A |
T |
3: 100,058,503 (GRCm39) |
F367L |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,688,088 (GRCm39) |
S1005G |
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 |
|
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 |
|
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'- GCCACTCAGCTGATAGTTCTTAATC -3'
(R):5'- CTGATATCTCTGAGTGTATGACCC -3'
Sequencing Primer
(F):5'- TCAGCTGATAGTTCTTAATCTATCCC -3'
(R):5'- TGAGTGTATGACCCCCTCG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation