Incidental Mutation 'R7374:Ntn4'
| ID |
572281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntn4
|
| Ensembl Gene |
ENSMUSG00000020019 |
| Gene Name |
netrin 4 |
| Synonyms |
beta-netrin |
| MMRRC Submission |
045457-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7374 (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 G
at 93518434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 247
(H247R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
|
| AlphaFold |
Q9JI33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020204
AA Change: H247R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: H247R
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,242,136 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Abcd4 |
A |
T |
12: 84,653,017 (GRCm39) |
L395* |
probably null |
Het |
| Cdh23 |
G |
A |
10: 60,153,679 (GRCm39) |
R2304W |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,126,883 (GRCm39) |
T432A |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,276,731 (GRCm39) |
W2792R |
unknown |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,648 (GRCm39) |
|
probably null |
Het |
| Ddx51 |
C |
A |
5: 110,804,998 (GRCm39) |
T580K |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,241,094 (GRCm39) |
D112V |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,519,465 (GRCm39) |
N25S |
probably damaging |
Het |
| Gas6 |
A |
T |
8: 13,524,802 (GRCm39) |
V330D |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,027,959 (GRCm39) |
T22A |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,641,240 (GRCm39) |
V108A |
|
Het |
| Gm8257 |
T |
C |
14: 44,887,740 (GRCm39) |
E215G |
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,080,634 (GRCm39) |
S206T |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,648,383 (GRCm39) |
T118A |
probably benign |
Het |
| Hfe |
T |
G |
13: 23,890,030 (GRCm39) |
T248P |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 941,491 (GRCm39) |
W1231R |
probably benign |
Het |
| Ltbp2 |
C |
T |
12: 84,876,949 (GRCm39) |
D419N |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,980,109 (GRCm39) |
A232T |
|
Het |
| Mgam |
G |
A |
6: 40,734,373 (GRCm39) |
E1473K |
possibly damaging |
Het |
| Mtbp |
A |
C |
15: 55,426,355 (GRCm39) |
E99A |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,416,863 (GRCm39) |
T3270S |
probably benign |
Het |
| Myl2 |
A |
G |
5: 122,239,726 (GRCm39) |
Y28C |
|
Het |
| Nrxn1 |
A |
G |
17: 90,896,097 (GRCm39) |
|
probably null |
Het |
| Numa1 |
T |
C |
7: 101,658,335 (GRCm39) |
V1568A |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,791 (GRCm39) |
G414D |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,946,095 (GRCm39) |
F31S |
probably damaging |
Het |
| Or8k25 |
C |
A |
2: 86,244,196 (GRCm39) |
A67S |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,204,780 (GRCm39) |
V547I |
possibly damaging |
Het |
| Pom121l12 |
A |
T |
11: 14,549,962 (GRCm39) |
M223L |
probably benign |
Het |
| Prps1l1 |
T |
C |
12: 35,035,424 (GRCm39) |
S180P |
possibly damaging |
Het |
| Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,471,235 (GRCm39) |
R1014W |
probably damaging |
Het |
| Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
| Rhbdl2 |
G |
C |
4: 123,711,658 (GRCm39) |
V132L |
probably benign |
Het |
| Slc15a2 |
G |
T |
16: 36,572,207 (GRCm39) |
T719K |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,937,542 (GRCm39) |
T465A |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
| Sv2c |
A |
T |
13: 96,125,644 (GRCm39) |
H364Q |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,354,533 (GRCm39) |
L401Q |
possibly damaging |
Het |
| Trav9d-4 |
A |
G |
14: 53,221,300 (GRCm39) |
Y98C |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,217,639 (GRCm39) |
C195S |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,315,815 (GRCm39) |
Y191H |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,381,305 (GRCm39) |
I839V |
probably benign |
Het |
| Vmn1r52 |
A |
T |
6: 90,156,118 (GRCm39) |
I141F |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,160 (GRCm39) |
H200R |
probably damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,881,607 (GRCm39) |
M491K |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,630 (GRCm39) |
I239V |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,758,939 (GRCm39) |
C1006W |
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 |
|
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'- CACTGTGCAAACAATCCAGGG -3'
(R):5'- GACTATAGTCCCCAAAACTGAAGG -3'
Sequencing Primer
(F):5'- AACAATCCAGGGCGTGC -3'
(R):5'- CCAAAACTGAAGGTAATTTCCGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation