Incidental Mutation 'R1927:Ntn4'
ID |
266009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntn4
|
Ensembl Gene |
ENSMUSG00000020019 |
Gene Name |
netrin 4 |
Synonyms |
beta-netrin |
MMRRC Submission |
039945-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93543215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 314
(R314W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
|
AlphaFold |
Q9JI33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020204
AA Change: R314W
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020204 Gene: ENSMUSG00000020019 AA Change: R314W
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 |
0.6651 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,613,338 (GRCm39) |
S31P |
probably damaging |
Het |
Abca12 |
G |
T |
1: 71,283,999 (GRCm39) |
H2524Q |
probably damaging |
Het |
Acsl5 |
T |
C |
19: 55,266,586 (GRCm39) |
V135A |
probably benign |
Het |
Actl11 |
T |
G |
9: 107,806,736 (GRCm39) |
L353R |
possibly damaging |
Het |
Adcy6 |
G |
T |
15: 98,496,379 (GRCm39) |
|
probably null |
Het |
B230104I21Rik |
A |
G |
4: 154,425,694 (GRCm39) |
I697T |
probably damaging |
Het |
BC061237 |
G |
A |
14: 44,738,700 (GRCm39) |
R33K |
possibly damaging |
Het |
Brf1 |
C |
A |
12: 112,963,964 (GRCm39) |
V5F |
possibly damaging |
Het |
Chmp2a |
C |
T |
7: 12,767,863 (GRCm39) |
A21T |
possibly damaging |
Het |
Cwh43 |
A |
G |
5: 73,610,417 (GRCm39) |
N607S |
probably benign |
Het |
Ddhd2 |
G |
A |
8: 26,231,688 (GRCm39) |
L445F |
possibly damaging |
Het |
Dicer1 |
C |
A |
12: 104,669,143 (GRCm39) |
D1180Y |
possibly damaging |
Het |
Dnaaf4 |
A |
T |
9: 72,867,909 (GRCm39) |
I57L |
probably damaging |
Het |
Dock5 |
A |
T |
14: 68,083,511 (GRCm39) |
S133T |
possibly damaging |
Het |
Efs |
A |
T |
14: 55,154,620 (GRCm39) |
C540S |
possibly damaging |
Het |
Ehd4 |
C |
T |
2: 119,921,973 (GRCm39) |
G428S |
probably benign |
Het |
Eml1 |
C |
T |
12: 108,504,476 (GRCm39) |
R812* |
probably null |
Het |
Enpp1 |
C |
T |
10: 24,530,786 (GRCm39) |
D557N |
possibly damaging |
Het |
Fn3krp |
A |
G |
11: 121,315,803 (GRCm39) |
T65A |
probably damaging |
Het |
Galnt5 |
A |
G |
2: 57,888,615 (GRCm39) |
R72G |
probably benign |
Het |
Gfod1 |
C |
T |
13: 43,354,336 (GRCm39) |
R213H |
possibly damaging |
Het |
Gm10518 |
A |
G |
1: 179,631,210 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
A |
G |
11: 48,780,082 (GRCm39) |
F558S |
probably damaging |
Het |
Got1 |
C |
T |
19: 43,504,119 (GRCm39) |
|
probably null |
Het |
Gucy2g |
C |
T |
19: 55,226,191 (GRCm39) |
V242I |
probably benign |
Het |
Hdgfl2 |
T |
A |
17: 56,406,874 (GRCm39) |
V606E |
possibly damaging |
Het |
Hoxa3 |
T |
C |
6: 52,146,979 (GRCm39) |
|
probably benign |
Het |
Iqub |
T |
A |
6: 24,491,670 (GRCm39) |
I339L |
probably benign |
Het |
Kdm4c |
C |
T |
4: 74,263,720 (GRCm39) |
T668I |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,617,474 (GRCm39) |
I592V |
probably benign |
Het |
Mfsd12 |
G |
T |
10: 81,197,921 (GRCm39) |
M296I |
probably benign |
Het |
Mfsd4b4 |
C |
T |
10: 39,768,437 (GRCm39) |
A219T |
probably damaging |
Het |
Mrpl52 |
T |
C |
14: 54,664,414 (GRCm39) |
S9P |
possibly damaging |
Het |
Nbr1 |
A |
G |
11: 101,458,040 (GRCm39) |
Y273C |
possibly damaging |
Het |
Ncf4 |
G |
T |
15: 78,144,846 (GRCm39) |
G217V |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,897,668 (GRCm39) |
E96G |
probably benign |
Het |
Nid2 |
T |
A |
14: 19,818,344 (GRCm39) |
N279K |
probably damaging |
Het |
Nr5a2 |
A |
G |
1: 136,872,732 (GRCm39) |
Y56H |
probably damaging |
Het |
Nynrin |
A |
G |
14: 56,101,049 (GRCm39) |
T280A |
probably benign |
Het |
Or1o2 |
A |
G |
17: 37,542,434 (GRCm39) |
Y276H |
probably damaging |
Het |
Or2b28 |
T |
A |
13: 21,531,116 (GRCm39) |
I6N |
probably benign |
Het |
Or2w2 |
A |
G |
13: 21,758,426 (GRCm39) |
F67L |
probably benign |
Het |
Or55b10 |
A |
G |
7: 102,143,266 (GRCm39) |
S239P |
possibly damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,393 (GRCm39) |
Y260H |
probably damaging |
Het |
Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
Ptprn |
A |
G |
1: 75,230,766 (GRCm39) |
V565A |
probably benign |
Het |
Rbm6 |
T |
G |
9: 107,730,102 (GRCm39) |
D182A |
probably damaging |
Het |
Rhbg |
A |
G |
3: 88,151,859 (GRCm39) |
F400L |
probably benign |
Het |
Rpl22l1 |
T |
A |
3: 28,860,738 (GRCm39) |
N33K |
possibly damaging |
Het |
Rtp1 |
T |
A |
16: 23,249,959 (GRCm39) |
I108N |
probably damaging |
Het |
Sema6b |
A |
T |
17: 56,439,797 (GRCm39) |
F15I |
probably benign |
Het |
Sirpa |
C |
T |
2: 129,458,296 (GRCm39) |
T304I |
possibly damaging |
Het |
Slc22a29 |
A |
G |
19: 8,184,430 (GRCm39) |
I257T |
probably benign |
Het |
Slc41a1 |
T |
C |
1: 131,768,938 (GRCm39) |
I256T |
probably damaging |
Het |
Smg6 |
A |
G |
11: 75,033,674 (GRCm39) |
K1208R |
probably damaging |
Het |
Sorcs1 |
G |
T |
19: 50,210,633 (GRCm39) |
P744Q |
probably damaging |
Het |
Sptbn5 |
T |
C |
2: 119,900,943 (GRCm39) |
T213A |
probably benign |
Het |
St18 |
A |
G |
1: 6,872,936 (GRCm39) |
T224A |
probably benign |
Het |
Stat3 |
T |
C |
11: 100,785,655 (GRCm39) |
N465S |
probably damaging |
Het |
Stmn2 |
T |
A |
3: 8,610,636 (GRCm39) |
M40K |
probably benign |
Het |
Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
Thrb |
T |
A |
14: 18,008,674 (GRCm38) |
C133S |
probably damaging |
Het |
Tmem25 |
C |
T |
9: 44,707,780 (GRCm39) |
V172M |
possibly damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trhde |
T |
A |
10: 114,636,754 (GRCm39) |
Y151F |
probably damaging |
Het |
Trp53bp2 |
A |
G |
1: 182,280,229 (GRCm39) |
T912A |
probably damaging |
Het |
Unc79 |
C |
A |
12: 103,135,951 (GRCm39) |
A2269E |
probably damaging |
Het |
Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
Zfp758 |
T |
G |
17: 22,594,823 (GRCm39) |
S436R |
probably damaging |
Het |
Zfp791 |
G |
T |
8: 85,837,312 (GRCm39) |
T184K |
probably benign |
Het |
Znrf3 |
A |
G |
11: 5,231,062 (GRCm39) |
V817A |
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-02-05 |