Incidental Mutation 'R5190:Unc5b'
| ID |
398058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60608072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 687
(Y687C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077925]
[ENSMUST00000218637]
|
| AlphaFold |
Q8K1S3 |
| PDB Structure |
Crystal structure of the UNC5H2 death domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077925
AA Change: Y687C
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: Y687C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IG_like
|
54 |
149 |
1.71e2 |
SMART |
|
IGc2
|
165 |
232 |
2.58e-6 |
SMART |
|
TSP1
|
249 |
300 |
8.21e-15 |
SMART |
|
TSP1
|
305 |
354 |
2.61e-8 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
|
ZU5
|
541 |
644 |
1.91e-56 |
SMART |
|
DEATH
|
852 |
943 |
5.55e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218637
AA Change: Y676C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| 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 receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a severely hypomorphic allele exhibit background sensitive lethality during organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,835,427 (GRCm39) |
|
probably null |
Het |
| Abca8a |
C |
T |
11: 109,980,735 (GRCm39) |
|
probably null |
Het |
| Ablim3 |
A |
G |
18: 61,952,982 (GRCm39) |
Y361H |
probably benign |
Het |
| Acan |
C |
T |
7: 78,748,289 (GRCm39) |
T1020I |
probably benign |
Het |
| Baat |
A |
G |
4: 49,499,652 (GRCm39) |
L218P |
probably damaging |
Het |
| Bcl11b |
C |
A |
12: 107,955,975 (GRCm39) |
C58F |
probably damaging |
Het |
| Cand2 |
G |
T |
6: 115,766,474 (GRCm39) |
A360S |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,372 (GRCm39) |
V62A |
possibly damaging |
Het |
| Cep44 |
C |
T |
8: 56,985,831 (GRCm39) |
V354I |
probably benign |
Het |
| Col3a1 |
G |
A |
1: 45,368,244 (GRCm39) |
R309Q |
unknown |
Het |
| Col3a1 |
G |
A |
1: 45,383,967 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
| Crtac1 |
A |
G |
19: 42,322,347 (GRCm39) |
I131T |
possibly damaging |
Het |
| Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,051,724 (GRCm39) |
V1706A |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,369,357 (GRCm39) |
I63M |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,635 (GRCm39) |
D214G |
probably benign |
Het |
| Fam216a |
T |
A |
5: 122,505,584 (GRCm39) |
|
probably null |
Het |
| Fdxacb1 |
A |
C |
9: 50,683,387 (GRCm39) |
H248P |
possibly damaging |
Het |
| Gnai1 |
A |
T |
5: 18,496,596 (GRCm39) |
V109E |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,872,550 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
C |
7: 127,715,489 (GRCm39) |
|
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,187,836 (GRCm39) |
S766G |
probably benign |
Het |
| Klra1 |
C |
A |
6: 130,352,241 (GRCm39) |
C167F |
probably damaging |
Het |
| Krtap9-3 |
T |
A |
11: 99,488,808 (GRCm39) |
T25S |
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,295,626 (GRCm39) |
Y624C |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,249,187 (GRCm39) |
Y263C |
probably damaging |
Het |
| Or1ad8 |
T |
G |
11: 50,898,381 (GRCm39) |
I194S |
probably damaging |
Het |
| Or2y1g |
T |
C |
11: 49,171,209 (GRCm39) |
V78A |
probably damaging |
Het |
| Or52e4 |
C |
T |
7: 104,705,660 (GRCm39) |
S69L |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,107 (GRCm39) |
Y217* |
probably null |
Het |
| P3h2 |
A |
G |
16: 25,803,699 (GRCm39) |
S356P |
possibly damaging |
Het |
| Pde12 |
C |
T |
14: 26,387,532 (GRCm39) |
|
probably null |
Het |
| Rln3 |
T |
G |
8: 84,769,866 (GRCm39) |
K94N |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,620,711 (GRCm39) |
I668V |
unknown |
Het |
| Slitrk5 |
C |
A |
14: 111,916,852 (GRCm39) |
Q159K |
probably damaging |
Het |
| Trim3 |
G |
T |
7: 105,268,716 (GRCm39) |
N79K |
probably damaging |
Het |
| Tyw1 |
T |
A |
5: 130,296,756 (GRCm39) |
C101* |
probably null |
Het |
| Ulk2 |
T |
C |
11: 61,672,537 (GRCm39) |
T934A |
probably benign |
Het |
| Vmn1r195 |
C |
T |
13: 22,462,556 (GRCm39) |
R9* |
probably null |
Het |
| Zfc3h1 |
T |
G |
10: 115,254,597 (GRCm39) |
L1397R |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,311,332 (GRCm39) |
V9A |
probably benign |
Het |
| Zfp423 |
T |
A |
8: 88,509,091 (GRCm39) |
S397C |
probably damaging |
Het |
|
| Other mutations in Unc5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Unc5b
|
APN |
10 |
60,618,995 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL00578:Unc5b
|
APN |
10 |
60,602,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01895:Unc5b
|
APN |
10 |
60,602,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01955:Unc5b
|
APN |
10 |
60,614,034 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01980:Unc5b
|
APN |
10 |
60,615,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02277:Unc5b
|
APN |
10 |
60,610,521 (GRCm39) |
missense |
probably benign |
|
|
LCD18:Unc5b
|
UTSW |
10 |
60,621,950 (GRCm39) |
intron |
probably benign |
|
|
R0021:Unc5b
|
UTSW |
10 |
60,614,698 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0021:Unc5b
|
UTSW |
10 |
60,614,698 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0026:Unc5b
|
UTSW |
10 |
60,610,371 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0147:Unc5b
|
UTSW |
10 |
60,608,076 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0305:Unc5b
|
UTSW |
10 |
60,615,437 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Unc5b
|
UTSW |
10 |
60,615,437 (GRCm39) |
splice site |
probably benign |
|
|
R0373:Unc5b
|
UTSW |
10 |
60,614,719 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0662:Unc5b
|
UTSW |
10 |
60,608,362 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1208:Unc5b
|
UTSW |
10 |
60,602,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Unc5b
|
UTSW |
10 |
60,602,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Unc5b
|
UTSW |
10 |
60,667,254 (GRCm39) |
unclassified |
probably benign |
|
|
R1532:Unc5b
|
UTSW |
10 |
60,605,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1916:Unc5b
|
UTSW |
10 |
60,614,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Unc5b
|
UTSW |
10 |
60,608,348 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1954:Unc5b
|
UTSW |
10 |
60,605,044 (GRCm39) |
splice site |
probably benign |
|
|
R2350:Unc5b
|
UTSW |
10 |
60,613,979 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3419:Unc5b
|
UTSW |
10 |
60,614,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Unc5b
|
UTSW |
10 |
60,610,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4258:Unc5b
|
UTSW |
10 |
60,601,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4329:Unc5b
|
UTSW |
10 |
60,618,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4605:Unc5b
|
UTSW |
10 |
60,610,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4828:Unc5b
|
UTSW |
10 |
60,608,127 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5134:Unc5b
|
UTSW |
10 |
60,610,879 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5240:Unc5b
|
UTSW |
10 |
60,610,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5342:Unc5b
|
UTSW |
10 |
60,614,046 (GRCm39) |
nonsense |
probably null |
|
|
R5522:Unc5b
|
UTSW |
10 |
60,613,974 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5694:Unc5b
|
UTSW |
10 |
60,609,526 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5822:Unc5b
|
UTSW |
10 |
60,608,306 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5909:Unc5b
|
UTSW |
10 |
60,608,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6007:Unc5b
|
UTSW |
10 |
60,601,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:Unc5b
|
UTSW |
10 |
60,613,325 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6182:Unc5b
|
UTSW |
10 |
60,601,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Unc5b
|
UTSW |
10 |
60,608,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Unc5b
|
UTSW |
10 |
60,614,110 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6319:Unc5b
|
UTSW |
10 |
60,614,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Unc5b
|
UTSW |
10 |
60,614,091 (GRCm39) |
missense |
probably benign |
|
|
R6532:Unc5b
|
UTSW |
10 |
60,614,607 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6827:Unc5b
|
UTSW |
10 |
60,616,011 (GRCm39) |
missense |
probably benign |
|
|
R6912:Unc5b
|
UTSW |
10 |
60,666,871 (GRCm39) |
missense |
probably benign |
|
|
R7032:Unc5b
|
UTSW |
10 |
60,614,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7082:Unc5b
|
UTSW |
10 |
60,610,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7089:Unc5b
|
UTSW |
10 |
60,613,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Unc5b
|
UTSW |
10 |
60,608,002 (GRCm39) |
nonsense |
probably null |
|
|
R7587:Unc5b
|
UTSW |
10 |
60,618,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Unc5b
|
UTSW |
10 |
60,613,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Unc5b
|
UTSW |
10 |
60,610,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Unc5b
|
UTSW |
10 |
60,601,020 (GRCm39) |
missense |
probably benign |
|
|
R7895:Unc5b
|
UTSW |
10 |
60,615,509 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7942:Unc5b
|
UTSW |
10 |
60,613,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8264:Unc5b
|
UTSW |
10 |
60,604,113 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9100:Unc5b
|
UTSW |
10 |
60,604,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Unc5b
|
UTSW |
10 |
60,609,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Unc5b
|
UTSW |
10 |
60,609,532 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9441:Unc5b
|
UTSW |
10 |
60,608,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Unc5b
|
UTSW |
10 |
60,613,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF019:Unc5b
|
UTSW |
10 |
60,618,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Unc5b
|
UTSW |
10 |
60,613,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCATTGCTGTTCTGAGGC -3'
(R):5'- TCTCAAAACGGCATGATCCC -3'
Sequencing Primer
(F):5'- CATCTGGGGAGGGTTCTAACAAC -3'
(R):5'- ATGATCCCAGCCCAGGTGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation