Incidental Mutation 'R9010:Ntn4'
| ID |
685579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntn4
|
| Ensembl Gene |
ENSMUSG00000020019 |
| Gene Name |
netrin 4 |
| Synonyms |
beta-netrin |
| MMRRC Submission |
068840-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93480506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 77
(C77R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
[ENSMUST00000147080]
|
| AlphaFold |
Q9JI33 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: C77R
| 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 damaging
Transcript: ENSMUST00000147080
AA Change: C40R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123306
Gene: ENSMUSG00000020019
AA Change: C40R
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
1 |
143 |
4.24e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.9419 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| 2310003L06Rik |
T |
A |
5: 88,119,504 (GRCm39) |
M87K |
possibly damaging |
Het |
| Angel1 |
T |
C |
12: 86,770,153 (GRCm39) |
S36G |
possibly damaging |
Het |
| Apol6 |
A |
G |
15: 76,935,697 (GRCm39) |
H322R |
unknown |
Het |
| Arfgef2 |
G |
A |
2: 166,701,284 (GRCm39) |
R694Q |
probably damaging |
Het |
| Bank1 |
A |
T |
3: 135,761,559 (GRCm39) |
N748K |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,964,576 (GRCm39) |
D1539E |
probably damaging |
Het |
| Bst1 |
T |
C |
5: 43,982,695 (GRCm39) |
I180T |
possibly damaging |
Het |
| Cabin1 |
C |
A |
10: 75,570,892 (GRCm39) |
E795* |
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,100,633 (GRCm39) |
V155A |
possibly damaging |
Het |
| Cckar |
T |
A |
5: 53,857,163 (GRCm39) |
T416S |
probably damaging |
Het |
| Ccng2 |
G |
T |
5: 93,416,616 (GRCm39) |
E46* |
probably null |
Het |
| Ceacam9 |
T |
C |
7: 16,455,916 (GRCm39) |
S8P |
probably benign |
Het |
| Cercam |
G |
A |
2: 29,766,071 (GRCm39) |
D317N |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,734,921 (GRCm39) |
M2377L |
unknown |
Het |
| Cgnl1 |
A |
T |
9: 71,558,631 (GRCm39) |
L914H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Clec2g |
T |
A |
6: 128,925,688 (GRCm39) |
F32L |
unknown |
Het |
| Cntnap5c |
A |
T |
17: 58,671,159 (GRCm39) |
M1116L |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,760 (GRCm39) |
F1516L |
unknown |
Het |
| Crb2 |
A |
G |
2: 37,680,698 (GRCm39) |
E542G |
probably benign |
Het |
| Crisp1 |
A |
T |
17: 40,616,101 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
G |
A |
16: 59,374,702 (GRCm39) |
T470M |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eif1ad |
T |
A |
19: 5,418,726 (GRCm39) |
V93D |
possibly damaging |
Het |
| Entpd3 |
T |
C |
9: 120,384,825 (GRCm39) |
I134T |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,938,491 (GRCm39) |
C1015S |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,282,011 (GRCm39) |
M1865V |
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,277,146 (GRCm39) |
E728G |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,081,139 (GRCm39) |
S1371I |
probably damaging |
Het |
| Ighv1-4 |
A |
T |
12: 114,450,949 (GRCm39) |
M53K |
possibly damaging |
Het |
| Itch |
A |
T |
2: 155,020,991 (GRCm39) |
T169S |
probably benign |
Het |
| Kifc2 |
A |
G |
15: 76,550,885 (GRCm39) |
N587S |
possibly damaging |
Het |
| Klk1b16 |
A |
T |
7: 43,790,177 (GRCm39) |
D149V |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lefty2 |
T |
A |
1: 180,722,172 (GRCm39) |
I170N |
probably damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,509,151 (GRCm39) |
F419L |
possibly damaging |
Het |
| Mkrn2 |
T |
A |
6: 115,591,583 (GRCm39) |
V302E |
possibly damaging |
Het |
| Msh4 |
T |
C |
3: 153,595,819 (GRCm39) |
K271R |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,351 (GRCm39) |
T1559A |
unknown |
Het |
| Naa16 |
T |
G |
14: 79,607,482 (GRCm39) |
R289S |
probably benign |
Het |
| Nab1 |
T |
A |
1: 52,529,610 (GRCm39) |
I96F |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,479,456 (GRCm39) |
T424A |
possibly damaging |
Het |
| Or1p1 |
G |
T |
11: 74,180,305 (GRCm39) |
V278F |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,842,681 (GRCm39) |
Y271H |
probably damaging |
Het |
| Or4e2 |
T |
A |
14: 52,688,556 (GRCm39) |
S229T |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,949,894 (GRCm39) |
D267G |
probably benign |
Het |
| P2ry2 |
A |
C |
7: 100,647,358 (GRCm39) |
F316V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,663,924 (GRCm39) |
T426A |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,883,192 (GRCm39) |
D845V |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,471,217 (GRCm39) |
F996S |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,024,591 (GRCm39) |
M303V |
possibly damaging |
Het |
| Prelid2 |
A |
T |
18: 42,065,781 (GRCm39) |
W85R |
probably damaging |
Het |
| Rabep1 |
G |
A |
11: 70,810,034 (GRCm39) |
R532H |
probably damaging |
Het |
| Rabgap1l |
G |
A |
1: 160,528,443 (GRCm39) |
R388W |
possibly damaging |
Het |
| Rad51ap2 |
G |
T |
12: 11,508,675 (GRCm39) |
V866L |
probably benign |
Het |
| Rassf3 |
C |
A |
10: 121,311,991 (GRCm39) |
E9* |
probably null |
Het |
| Rbbp4 |
A |
C |
4: 129,216,180 (GRCm39) |
L189R |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,315,786 (GRCm39) |
C597* |
probably null |
Het |
| Rrp12 |
T |
A |
19: 41,871,929 (GRCm39) |
I452F |
probably benign |
Het |
| Snx29 |
G |
A |
16: 11,449,391 (GRCm39) |
A279T |
probably benign |
Het |
| Tdh |
C |
T |
14: 63,737,704 (GRCm39) |
S17N |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,879,371 (GRCm39) |
D555G |
possibly damaging |
Het |
| Thbs1 |
A |
C |
2: 117,953,045 (GRCm39) |
D885A |
probably damaging |
Het |
| Tmprss9 |
C |
A |
10: 80,733,701 (GRCm39) |
A921E |
unknown |
Het |
| Trrap |
T |
A |
5: 144,783,226 (GRCm39) |
F3340I |
probably damaging |
Het |
| Vmn1r72 |
A |
T |
7: 11,404,145 (GRCm39) |
M101K |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,445 (GRCm39) |
L593P |
probably benign |
Het |
| Washc2 |
G |
A |
6: 116,198,823 (GRCm39) |
G295E |
probably damaging |
Het |
| Zfp273 |
A |
T |
13: 67,974,177 (GRCm39) |
H435L |
probably damaging |
Het |
| Zfp395 |
A |
G |
14: 65,623,948 (GRCm39) |
E139G |
possibly damaging |
Het |
| Zfp512b |
G |
A |
2: 181,230,011 (GRCm39) |
A552V |
possibly 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 |
|
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 |
|
|
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'- CTTGAATGGAGTAGCCGGAG -3'
(R):5'- TCCAGGTCTTCCCAAAGTCC -3'
Sequencing Primer
(F):5'- AGTAGCCGGAGCGAACTC -3'
(R):5'- CTGGGAGACTTGAACACCATAATTAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation