Incidental Mutation 'R1806:Ntn4'
| ID |
203479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntn4
|
| Ensembl Gene |
ENSMUSG00000020019 |
| Gene Name |
netrin 4 |
| Synonyms |
beta-netrin |
| MMRRC Submission |
039835-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1806 (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 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: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
| Validation Efficiency |
96% (77/80) |
| 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 |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,784,571 (GRCm39) |
L348P |
probably damaging |
Het |
| Adamts15 |
C |
A |
9: 30,816,111 (GRCm39) |
C616F |
probably damaging |
Het |
| Adarb1 |
T |
C |
10: 77,158,099 (GRCm39) |
N116S |
probably damaging |
Het |
| Add2 |
C |
T |
6: 86,095,639 (GRCm39) |
S437L |
probably damaging |
Het |
| Adra1d |
T |
A |
2: 131,388,069 (GRCm39) |
R495S |
probably benign |
Het |
| Agk |
C |
T |
6: 40,364,429 (GRCm39) |
T309I |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,992,133 (GRCm39) |
Y81C |
probably damaging |
Het |
| Bak1 |
G |
A |
17: 27,240,242 (GRCm39) |
Q142* |
probably null |
Het |
| Bckdha |
A |
G |
7: 25,330,845 (GRCm39) |
V307A |
probably damaging |
Het |
| Camk2n2 |
C |
A |
16: 20,438,948 (GRCm39) |
G72V |
probably benign |
Het |
| Cd276 |
A |
T |
9: 58,434,845 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
G |
A |
17: 43,149,649 (GRCm39) |
Q122* |
probably null |
Het |
| Cdan1 |
T |
A |
2: 120,561,907 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,263,547 (GRCm39) |
S156P |
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,117,959 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,096 (GRCm39) |
T344A |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,861,829 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,912,835 (GRCm39) |
V3380F |
possibly damaging |
Het |
| Galnt9 |
A |
G |
5: 110,767,119 (GRCm39) |
D530G |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,135 (GRCm39) |
S416R |
probably benign |
Het |
| Gm10549 |
T |
A |
18: 33,603,841 (GRCm39) |
V108E |
unknown |
Het |
| Hook3 |
A |
T |
8: 26,558,687 (GRCm39) |
L59Q |
probably damaging |
Het |
| Hpf1 |
T |
A |
8: 61,353,154 (GRCm39) |
D178E |
probably benign |
Het |
| Hsd17b7 |
T |
C |
1: 169,788,698 (GRCm39) |
N173S |
possibly damaging |
Het |
| Hsph1 |
A |
G |
5: 149,553,454 (GRCm39) |
F236L |
probably damaging |
Het |
| Kcnk12 |
G |
T |
17: 88,053,537 (GRCm39) |
T375K |
probably benign |
Het |
| Klra3 |
A |
T |
6: 130,304,033 (GRCm39) |
S220T |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,414,967 (GRCm39) |
L12Q |
probably damaging |
Het |
| Lnx1 |
A |
G |
5: 74,766,710 (GRCm39) |
L468P |
probably damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,803,970 (GRCm39) |
C827* |
probably null |
Het |
| Mical1 |
C |
T |
10: 41,354,210 (GRCm39) |
A53V |
probably damaging |
Het |
| Mmp10 |
A |
T |
9: 7,506,502 (GRCm39) |
H326L |
probably benign |
Het |
| Mpl |
A |
T |
4: 118,300,729 (GRCm39) |
M600K |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,419,230 (GRCm39) |
D4004E |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,710,680 (GRCm39) |
H98L |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,323,251 (GRCm39) |
T2110A |
probably damaging |
Het |
| Nedd4l |
C |
A |
18: 65,345,862 (GRCm39) |
R825S |
probably damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,622 (GRCm39) |
I30N |
possibly damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,432 (GRCm39) |
L168Q |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,483 (GRCm39) |
I201N |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,940,361 (GRCm39) |
|
probably null |
Het |
| Parp2 |
T |
A |
14: 51,056,836 (GRCm39) |
L320H |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,307,150 (GRCm39) |
Y365H |
probably damaging |
Het |
| Pola2 |
C |
T |
19: 5,993,250 (GRCm39) |
|
probably null |
Het |
| Poln |
A |
T |
5: 34,264,494 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,131,680 (GRCm39) |
V123E |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,374,802 (GRCm39) |
Y578C |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,599 (GRCm39) |
T157A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,598,950 (GRCm39) |
V205E |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,147,681 (GRCm39) |
K1771R |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,102,234 (GRCm39) |
S309T |
possibly damaging |
Het |
| Sirpa |
T |
A |
2: 129,457,432 (GRCm39) |
F169I |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,916 (GRCm39) |
N374S |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,523,831 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,509,934 (GRCm39) |
|
probably null |
Het |
| Synpr |
A |
G |
14: 13,563,082 (GRCm38) |
N105S |
probably damaging |
Het |
| Tbc1d16 |
T |
C |
11: 119,046,927 (GRCm39) |
Y440C |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,824 (GRCm39) |
I313V |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Trim50 |
A |
G |
5: 135,387,743 (GRCm39) |
E145G |
probably benign |
Het |
| Uba2 |
A |
T |
7: 33,862,624 (GRCm39) |
F105I |
probably damaging |
Het |
| Uba3 |
A |
G |
6: 97,176,230 (GRCm39) |
V92A |
possibly damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,038,628 (GRCm39) |
K153R |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,194,810 (GRCm39) |
K8R |
possibly damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,893 (GRCm39) |
M269L |
probably benign |
Het |
| Xpot |
G |
T |
10: 121,443,543 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zfy1 |
T |
A |
Y: 725,620 (GRCm39) |
H715L |
possibly damaging |
Het |
| Zmym1 |
A |
C |
4: 126,941,872 (GRCm39) |
L839V |
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 |
|
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 |
|
|
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'- GCCTTACAGATAAATGGGTATGAAG -3'
(R):5'- ACATTCTTGGCTACTCAGGCC -3'
Sequencing Primer
(F):5'- AAGAAGTTGAAGGGAGGGTTTCTTTC -3'
(R):5'- ACTGCAGGCTGTTTCCAACG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation