Incidental Mutation 'R5903:Unc5a'
| ID |
456464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5a
|
| Ensembl Gene |
ENSMUSG00000025876 |
| Gene Name |
unc-5 netrin receptor A |
| Synonyms |
Unc5h1 |
| MMRRC Submission |
044101-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5903 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55097224-55153831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55147503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 438
(C438S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000109994]
[ENSMUST00000136852]
[ENSMUST00000137967]
|
| AlphaFold |
Q8K1S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026994
AA Change: C438S
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: C438S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SCOP:d1biha1
|
44 |
143 |
1e-4 |
SMART |
|
IG
|
155 |
240 |
1.8e-5 |
SMART |
|
TSP1
|
245 |
296 |
1.25e-14 |
SMART |
|
TSP1
|
301 |
350 |
1.98e-8 |
SMART |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
ZU5
|
495 |
598 |
3.68e-58 |
SMART |
|
DEATH
|
805 |
896 |
5.86e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109994
AA Change: C382S
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: C382S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SCOP:d1biha1
|
44 |
143 |
1e-4 |
SMART |
|
IG
|
155 |
240 |
1.8e-5 |
SMART |
|
TSP1
|
245 |
294 |
1.98e-8 |
SMART |
|
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
|
ZU5
|
439 |
542 |
3.68e-58 |
SMART |
|
DEATH
|
749 |
840 |
5.86e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136852
AA Change: C136S
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876
AA Change: C136S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
TSP1
|
20 |
70 |
1.23e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137967
|
| SMART Domains |
Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3G5B|A
|
1 |
118 |
6e-36 |
PDB |
|
Blast:DEATH
|
80 |
119 |
9e-22 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142906
|
| Meta Mutation Damage Score |
0.1238 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord. [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 |
|---|
| 9130230L23Rik |
A |
G |
5: 66,145,661 (GRCm39) |
V150A |
unknown |
Het |
| Abraxas1 |
T |
C |
5: 100,965,824 (GRCm39) |
|
probably null |
Het |
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,605,618 (GRCm39) |
D1449G |
possibly damaging |
Het |
| Atg7 |
G |
A |
6: 114,683,254 (GRCm39) |
W439* |
probably null |
Het |
| Atp6v0a2 |
T |
A |
5: 124,789,343 (GRCm39) |
I370N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,807,760 (GRCm39) |
D347G |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,790,233 (GRCm39) |
C660Y |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,896,801 (GRCm39) |
Y1390C |
probably damaging |
Het |
| Cdcp1 |
G |
A |
9: 123,002,837 (GRCm39) |
Q745* |
probably null |
Het |
| Cep97 |
G |
A |
16: 55,739,889 (GRCm39) |
S185L |
probably damaging |
Het |
| Clec4d |
A |
G |
6: 123,244,020 (GRCm39) |
H43R |
probably damaging |
Het |
| Cntn3 |
T |
A |
6: 102,219,094 (GRCm39) |
M509L |
probably benign |
Het |
| Cntrob |
A |
C |
11: 69,200,201 (GRCm39) |
S564R |
possibly damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,514 (GRCm39) |
N37I |
possibly damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,219 (GRCm39) |
T1029A |
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,829,121 (GRCm39) |
V64E |
probably damaging |
Het |
| Fmnl1 |
G |
T |
11: 103,062,270 (GRCm39) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 38,870,783 (GRCm39) |
M1K |
probably null |
Het |
| Gle1 |
C |
A |
2: 29,830,293 (GRCm39) |
T283N |
probably benign |
Het |
| Hsd17b14 |
T |
C |
7: 45,215,386 (GRCm39) |
V161A |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,380,819 (GRCm39) |
S218P |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,650,020 (GRCm39) |
C736S |
probably damaging |
Het |
| Itpkb |
G |
T |
1: 180,241,540 (GRCm39) |
V737L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,466,758 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
G |
T |
17: 53,110,364 (GRCm39) |
V192L |
possibly damaging |
Het |
| Kctd10 |
G |
A |
5: 114,518,523 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
C |
A |
6: 71,609,234 (GRCm39) |
|
probably benign |
Het |
| Kif5a |
T |
A |
10: 127,066,447 (GRCm39) |
M990L |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,260,124 (GRCm39) |
S202P |
probably damaging |
Het |
| Krt81 |
T |
G |
15: 101,358,083 (GRCm39) |
Q390P |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,844,347 (GRCm39) |
S604P |
probably damaging |
Het |
| Ms4a1 |
A |
T |
19: 11,235,612 (GRCm39) |
V48D |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,100,239 (GRCm39) |
P688L |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,040 (GRCm39) |
V250A |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,521,912 (GRCm39) |
Y277* |
probably null |
Het |
| Or52z13 |
G |
T |
7: 103,247,128 (GRCm39) |
G202* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,831,071 (GRCm39) |
E265G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,718 (GRCm39) |
I101T |
possibly damaging |
Het |
| Psme4 |
A |
T |
11: 30,791,589 (GRCm39) |
N1148I |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,312,195 (GRCm39) |
L874P |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,889,300 (GRCm39) |
Y508C |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,569,305 (GRCm39) |
|
probably benign |
Het |
| Slc9b1 |
C |
T |
3: 135,098,655 (GRCm39) |
|
probably benign |
Het |
| Stmn3 |
T |
C |
2: 180,950,573 (GRCm39) |
K78E |
possibly damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,389 (GRCm39) |
N302I |
possibly damaging |
Het |
| Trdv5 |
A |
T |
14: 54,386,242 (GRCm39) |
H74Q |
probably benign |
Het |
| Tubb4b |
C |
T |
2: 25,113,993 (GRCm39) |
R77H |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,440,396 (GRCm39) |
C1946F |
unknown |
Het |
|
| Other mutations in Unc5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Unc5a
|
APN |
13 |
55,143,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00339:Unc5a
|
APN |
13 |
55,143,628 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00924:Unc5a
|
APN |
13 |
55,152,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01411:Unc5a
|
APN |
13 |
55,150,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Unc5a
|
APN |
13 |
55,152,629 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02430:Unc5a
|
APN |
13 |
55,150,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02996:Unc5a
|
APN |
13 |
55,143,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03188:Unc5a
|
APN |
13 |
55,147,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT1430001:Unc5a
|
UTSW |
13 |
55,151,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Unc5a
|
UTSW |
13 |
55,143,681 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0009:Unc5a
|
UTSW |
13 |
55,150,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Unc5a
|
UTSW |
13 |
55,150,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0028:Unc5a
|
UTSW |
13 |
55,151,726 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0505:Unc5a
|
UTSW |
13 |
55,152,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Unc5a
|
UTSW |
13 |
55,151,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0745:Unc5a
|
UTSW |
13 |
55,153,068 (GRCm39) |
frame shift |
probably null |
|
|
R0836:Unc5a
|
UTSW |
13 |
55,151,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1018:Unc5a
|
UTSW |
13 |
55,138,765 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1432:Unc5a
|
UTSW |
13 |
55,152,285 (GRCm39) |
unclassified |
probably benign |
|
|
R1469:Unc5a
|
UTSW |
13 |
55,144,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Unc5a
|
UTSW |
13 |
55,144,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Unc5a
|
UTSW |
13 |
55,150,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Unc5a
|
UTSW |
13 |
55,138,896 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4020:Unc5a
|
UTSW |
13 |
55,151,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Unc5a
|
UTSW |
13 |
55,152,294 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4720:Unc5a
|
UTSW |
13 |
55,151,696 (GRCm39) |
missense |
probably null |
1.00 |
|
R4876:Unc5a
|
UTSW |
13 |
55,145,042 (GRCm39) |
missense |
probably benign |
|
|
R4953:Unc5a
|
UTSW |
13 |
55,147,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5112:Unc5a
|
UTSW |
13 |
55,151,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5593:Unc5a
|
UTSW |
13 |
55,152,747 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6521:Unc5a
|
UTSW |
13 |
55,152,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6723:Unc5a
|
UTSW |
13 |
55,143,702 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7038:Unc5a
|
UTSW |
13 |
55,152,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Unc5a
|
UTSW |
13 |
55,138,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Unc5a
|
UTSW |
13 |
55,138,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Unc5a
|
UTSW |
13 |
55,144,386 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7487:Unc5a
|
UTSW |
13 |
55,144,362 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7980:Unc5a
|
UTSW |
13 |
55,147,319 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8032:Unc5a
|
UTSW |
13 |
55,144,299 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8087:Unc5a
|
UTSW |
13 |
55,143,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Unc5a
|
UTSW |
13 |
55,151,401 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9126:Unc5a
|
UTSW |
13 |
55,145,774 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9492:Unc5a
|
UTSW |
13 |
55,150,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGCCTGTCAGCATCAAG -3'
(R):5'- AAGTTGAAGGTCCCATAGGCC -3'
Sequencing Primer
(F):5'- GCCCAGCAAAGCAGGTG -3'
(R):5'- AAGGTCCCATAGGCCATGTTG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation