Incidental Mutation 'R4806:Ntn4'
ID |
370689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntn4
|
Ensembl Gene |
ENSMUSG00000020019 |
Gene Name |
netrin 4 |
Synonyms |
beta-netrin |
MMRRC Submission |
042425-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4806 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93480362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 29
(R29C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
[ENSMUST00000147080]
|
AlphaFold |
Q9JI33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020204
AA Change: R29C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020204 Gene: ENSMUSG00000020019 AA Change: R29C
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147080
|
SMART Domains |
Protein: ENSMUSP00000123306 Gene: ENSMUSG00000020019
Domain | Start | End | E-Value | Type |
LamNT
|
1 |
143 |
4.24e-12 |
SMART |
|
Meta Mutation Damage Score |
0.1655 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
100% (66/66) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
A |
G |
7: 27,265,070 (GRCm39) |
|
probably null |
Het |
2410137M14Rik |
T |
A |
17: 37,289,746 (GRCm39) |
H28L |
probably benign |
Het |
4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
Acd |
A |
G |
8: 106,424,922 (GRCm39) |
V406A |
possibly damaging |
Het |
Acin1 |
A |
T |
14: 54,916,685 (GRCm39) |
|
probably benign |
Het |
Agbl4 |
T |
C |
4: 110,812,834 (GRCm39) |
V118A |
probably damaging |
Het |
Arhgap5 |
A |
G |
12: 52,565,486 (GRCm39) |
D819G |
probably damaging |
Het |
BC049715 |
A |
T |
6: 136,816,927 (GRCm39) |
I56F |
possibly damaging |
Het |
C1rb |
A |
T |
6: 124,551,908 (GRCm39) |
Q270L |
probably benign |
Het |
Cadps2 |
C |
T |
6: 23,688,859 (GRCm39) |
R121Q |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,679,688 (GRCm39) |
Y122C |
probably benign |
Het |
Cklf |
C |
A |
8: 104,984,067 (GRCm39) |
P77T |
probably damaging |
Het |
Clrn2 |
T |
C |
5: 45,611,346 (GRCm39) |
L65P |
probably damaging |
Het |
Csde1 |
TCCTCGACCT |
TCCT |
3: 102,963,685 (GRCm39) |
|
probably benign |
Het |
Csf2rb2 |
T |
C |
15: 78,169,490 (GRCm39) |
D446G |
probably benign |
Het |
Csmd3 |
T |
C |
15: 48,177,464 (GRCm39) |
E358G |
probably benign |
Het |
Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,896,408 (GRCm39) |
T3591A |
probably damaging |
Het |
Dpp9 |
A |
G |
17: 56,497,030 (GRCm39) |
L734P |
probably damaging |
Het |
Edem2 |
A |
G |
2: 155,570,913 (GRCm39) |
V39A |
possibly damaging |
Het |
Glmp |
A |
C |
3: 88,233,320 (GRCm39) |
|
probably benign |
Het |
Gm20775 |
T |
C |
Y: 10,641,885 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
T |
G |
11: 97,240,610 (GRCm39) |
D271A |
possibly damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,412,750 (GRCm39) |
V587A |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,895,095 (GRCm39) |
T1824S |
probably benign |
Het |
Ighmbp2 |
A |
T |
19: 3,311,589 (GRCm39) |
I942N |
probably damaging |
Het |
Ints2 |
A |
G |
11: 86,147,035 (GRCm39) |
L37P |
probably benign |
Het |
Irgq |
T |
A |
7: 24,233,470 (GRCm39) |
L437Q |
probably damaging |
Het |
Kcnq4 |
A |
T |
4: 120,570,291 (GRCm39) |
W351R |
probably damaging |
Het |
Kif3b |
G |
A |
2: 153,162,288 (GRCm39) |
A500T |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,480,430 (GRCm39) |
D66G |
probably damaging |
Het |
Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
Mc4r |
T |
A |
18: 66,992,559 (GRCm39) |
I185F |
probably damaging |
Het |
Mdga1 |
T |
C |
17: 30,061,128 (GRCm39) |
D621G |
probably benign |
Het |
Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
Myh11 |
A |
T |
16: 14,018,947 (GRCm39) |
|
probably null |
Het |
Naip1 |
G |
A |
13: 100,562,129 (GRCm39) |
A1012V |
probably benign |
Het |
Plb1 |
G |
A |
5: 32,447,196 (GRCm39) |
G321D |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,937,816 (GRCm39) |
V1510A |
probably damaging |
Het |
Polr1e |
T |
A |
4: 45,024,482 (GRCm39) |
M131K |
probably benign |
Het |
Prdm10 |
T |
A |
9: 31,241,237 (GRCm39) |
*342R |
probably null |
Het |
Prex2 |
T |
C |
1: 11,138,244 (GRCm39) |
F108L |
probably damaging |
Het |
Psmg2 |
T |
A |
18: 67,781,992 (GRCm39) |
I186N |
probably benign |
Het |
Ros1 |
T |
A |
10: 51,972,271 (GRCm39) |
E1614D |
probably damaging |
Het |
Sin3a |
G |
A |
9: 56,994,026 (GRCm39) |
V44M |
probably damaging |
Het |
Slco1a1 |
G |
A |
6: 141,854,735 (GRCm39) |
L639F |
possibly damaging |
Het |
Smr2 |
T |
G |
5: 88,246,289 (GRCm39) |
L101* |
probably null |
Het |
Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
Stat5b |
G |
T |
11: 100,681,623 (GRCm39) |
H544N |
probably benign |
Het |
Syk |
A |
T |
13: 52,786,963 (GRCm39) |
Y319F |
probably benign |
Het |
Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
Tsc22d1 |
A |
G |
14: 76,654,428 (GRCm39) |
|
probably null |
Het |
Vmn2r52 |
T |
A |
7: 9,893,169 (GRCm39) |
T657S |
probably damaging |
Het |
Vmn2r63 |
A |
T |
7: 42,576,314 (GRCm39) |
S500T |
probably benign |
Het |
Vps45 |
A |
C |
3: 95,953,725 (GRCm39) |
V209G |
probably benign |
Het |
Xrcc1 |
C |
A |
7: 24,269,905 (GRCm39) |
A442E |
probably benign |
Het |
Ythdc1 |
T |
A |
5: 86,970,704 (GRCm39) |
V430E |
probably damaging |
Het |
Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
Zfp422 |
A |
T |
6: 116,603,623 (GRCm39) |
N125K |
probably damaging |
Het |
Zfp53 |
T |
A |
17: 21,725,263 (GRCm39) |
D58E |
possibly damaging |
Het |
Zfp707 |
C |
T |
15: 75,845,000 (GRCm39) |
Q66* |
probably null |
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 |
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 |
PCR Primer
(F):5'- GCATTCATGGTCCCGTTTG -3'
(R):5'- CCTGAAGGATGAGTCTGCCATG -3'
Sequencing Primer
(F):5'- CATGGTCCCGTTTGCTAAATTC -3'
(R):5'- CCATGGCAGAGGGTGGGTG -3'
|
Posted On |
2016-02-04 |