Incidental Mutation 'R1200:Ntn5'
| ID |
101295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntn5
|
| Ensembl Gene |
ENSMUSG00000070564 |
| Gene Name |
netrin 5 |
| Synonyms |
LOC243967 |
| MMRRC Submission |
039270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45333519-45343980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45341806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 309
(V309L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040636]
[ENSMUST00000107742]
[ENSMUST00000182750]
[ENSMUST00000183120]
|
| AlphaFold |
Q3UQ22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040636
|
| SMART Domains |
Protein: ENSMUSP00000045229
Gene: ENSMUSG00000040364
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_11
|
55 |
362 |
1.6e-146 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107742
AA Change: V309L
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103371
Gene: ENSMUSG00000070564
AA Change: V309L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
130 |
N/A |
INTRINSIC |
|
EGF_Lam
|
173 |
225 |
4.1e-2 |
SMART |
|
EGF_Lam
|
228 |
275 |
1.75e-10 |
SMART |
|
low complexity region
|
281 |
289 |
N/A |
INTRINSIC |
|
C345C
|
313 |
432 |
4.71e-23 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182750
AA Change: V240L
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138412
Gene: ENSMUSG00000070564
AA Change: V240L
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_Lam
|
41 |
93 |
4.1e-2 |
SMART |
|
EGF_Lam
|
96 |
156 |
3.59e-7 |
SMART |
|
EGF_Lam
|
159 |
206 |
1.75e-10 |
SMART |
|
low complexity region
|
212 |
220 |
N/A |
INTRINSIC |
|
C345C
|
244 |
363 |
4.71e-23 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183120
AA Change: V309L
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138144
Gene: ENSMUSG00000070564
AA Change: V309L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
130 |
N/A |
INTRINSIC |
|
EGF_Lam
|
173 |
225 |
4.1e-2 |
SMART |
|
EGF_Lam
|
228 |
275 |
1.75e-10 |
SMART |
|
low complexity region
|
281 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
357 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit ectopic motor neurons that migrate out of the ventral horn and into the motor roots. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Acat1 |
T |
A |
9: 53,494,810 (GRCm39) |
I361F |
possibly damaging |
Het |
| Akp3 |
T |
A |
1: 87,052,982 (GRCm39) |
I57N |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Axin2 |
C |
A |
11: 108,822,376 (GRCm39) |
D309E |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,436,129 (GRCm39) |
P207T |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,107,626 (GRCm39) |
A1212E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,246,403 (GRCm39) |
I580M |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,973,157 (GRCm39) |
T146A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,496,738 (GRCm39) |
F613S |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,594 (GRCm39) |
D503G |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,945,631 (GRCm39) |
T2M |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,393,406 (GRCm39) |
L4095S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,607,739 (GRCm39) |
Y614C |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,466,742 (GRCm39) |
F616L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,916,882 (GRCm39) |
Y401N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,057,657 (GRCm39) |
Y6144C |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,178 (GRCm39) |
F308L |
probably damaging |
Het |
| Or51aa2 |
T |
A |
7: 103,188,274 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,477 (GRCm39) |
L51Q |
probably damaging |
Het |
| Pex1 |
G |
A |
5: 3,656,411 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
T |
3: 28,103,435 (GRCm39) |
D380V |
probably damaging |
Het |
| Prdm1 |
A |
G |
10: 44,326,126 (GRCm39) |
Y148H |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,722,087 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,705,163 (GRCm39) |
T689I |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,239 (GRCm39) |
H94Q |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,322,068 (GRCm39) |
I210L |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,370,675 (GRCm39) |
E402G |
probably damaging |
Het |
|
| Other mutations in Ntn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Ntn5
|
APN |
7 |
45,343,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02024:Ntn5
|
APN |
7 |
45,340,830 (GRCm39) |
splice site |
probably benign |
|
|
IGL02029:Ntn5
|
APN |
7 |
45,336,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02302:Ntn5
|
APN |
7 |
45,343,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Ntn5
|
APN |
7 |
45,341,300 (GRCm39) |
splice site |
probably benign |
|
|
IGL02891:Ntn5
|
APN |
7 |
45,335,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4418001:Ntn5
|
UTSW |
7 |
45,335,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0179:Ntn5
|
UTSW |
7 |
45,335,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0594:Ntn5
|
UTSW |
7 |
45,336,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0755:Ntn5
|
UTSW |
7 |
45,335,952 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4779:Ntn5
|
UTSW |
7 |
45,340,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5974:Ntn5
|
UTSW |
7 |
45,340,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Ntn5
|
UTSW |
7 |
45,343,437 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6189:Ntn5
|
UTSW |
7 |
45,342,644 (GRCm39) |
missense |
probably benign |
|
|
R6738:Ntn5
|
UTSW |
7 |
45,343,780 (GRCm39) |
start gained |
probably null |
|
|
R7169:Ntn5
|
UTSW |
7 |
45,336,198 (GRCm39) |
nonsense |
probably null |
|
|
R8805:Ntn5
|
UTSW |
7 |
45,333,899 (GRCm39) |
missense |
probably benign |
|
|
RF009:Ntn5
|
UTSW |
7 |
45,342,684 (GRCm39) |
splice site |
probably null |
|
|
Z1088:Ntn5
|
UTSW |
7 |
45,343,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCATCTCGATCAGGTAAGAGGC -3'
(R):5'- TTCCTTCCAGCTCTCAGAGAGGTCAG -3'
Sequencing Primer
(F):5'- tgtttgtttgtttgtttgtttgtttg -3'
(R):5'- TCTCAGAGAGGTCAGGCTCAAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation