Incidental Mutation 'R7587:Unc5b'
| ID |
587219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| MMRRC Submission |
045712-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7587 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60618899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 81
(C81Y)
|
| 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 damaging
Transcript: ENSMUST00000077925
AA Change: C81Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: C81Y
| 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 |
probably damaging
Transcript: ENSMUST00000218637
AA Change: C81Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,585,736 (GRCm39) |
T131A |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,827,578 (GRCm39) |
V15D |
probably benign |
Het |
| Asic1 |
A |
C |
15: 99,593,471 (GRCm39) |
Q276P |
probably damaging |
Het |
| Atl2 |
A |
T |
17: 80,172,496 (GRCm39) |
V158E |
probably benign |
Het |
| Atrn |
T |
A |
2: 130,822,034 (GRCm39) |
I909N |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,093,232 (GRCm39) |
V742A |
probably damaging |
Het |
| Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,869,004 (GRCm39) |
F165S |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,469 (GRCm39) |
E59G |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,768,515 (GRCm39) |
V10I |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,042,976 (GRCm39) |
S855C |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,932,859 (GRCm39) |
I361V |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,211,822 (GRCm39) |
I1874V |
probably benign |
Het |
| Dennd2a |
T |
G |
6: 39,460,069 (GRCm39) |
K679Q |
probably damaging |
Het |
| Dio2 |
A |
G |
12: 90,696,334 (GRCm39) |
V218A |
probably benign |
Het |
| Gpr107 |
A |
T |
2: 31,058,838 (GRCm39) |
K109N |
probably benign |
Het |
| Gpr108 |
C |
T |
17: 57,543,732 (GRCm39) |
R448Q |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,681,288 (GRCm39) |
V932A |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,512,065 (GRCm39) |
T181A |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,930,080 (GRCm39) |
|
probably null |
Het |
| Lipc |
A |
G |
9: 70,726,206 (GRCm39) |
Y168H |
probably damaging |
Het |
| Lipi |
C |
T |
16: 75,347,103 (GRCm39) |
V439M |
probably benign |
Het |
| Lpp |
A |
T |
16: 24,581,029 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
G |
2: 40,620,729 (GRCm39) |
D3583A |
|
Het |
| Ltbr |
T |
C |
6: 125,289,315 (GRCm39) |
T165A |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,118,736 (GRCm39) |
I527T |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,742,887 (GRCm39) |
E1133G |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,957,591 (GRCm39) |
|
probably null |
Het |
| Nedd1 |
G |
A |
10: 92,534,592 (GRCm39) |
T306M |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,966,510 (GRCm39) |
H207R |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,044,636 (GRCm39) |
Q110R |
probably benign |
Het |
| Or1e1b-ps1 |
C |
T |
11: 73,846,010 (GRCm39) |
Q165* |
probably null |
Het |
| Or52n2c |
C |
T |
7: 104,574,263 (GRCm39) |
R236H |
probably benign |
Het |
| Or7g32 |
T |
A |
9: 19,408,818 (GRCm39) |
V258E |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,678,701 (GRCm39) |
D905G |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,668,965 (GRCm39) |
L195S |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,475 (GRCm39) |
S355P |
probably benign |
Het |
| Pop1 |
A |
T |
15: 34,502,559 (GRCm39) |
K82M |
probably damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,892,766 (GRCm39) |
D655E |
possibly damaging |
Het |
| Ppt2 |
A |
G |
17: 34,845,777 (GRCm39) |
|
probably null |
Het |
| Pramel57 |
A |
G |
5: 95,669,270 (GRCm39) |
T100A |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,574,616 (GRCm39) |
M1K |
probably null |
Het |
| Rffl |
T |
C |
11: 82,700,974 (GRCm39) |
D284G |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,340,942 (GRCm39) |
D110G |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,867,683 (GRCm39) |
I457K |
possibly damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,541 (GRCm39) |
M71V |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,069,822 (GRCm39) |
S989N |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,713,305 (GRCm39) |
I356F |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,618,849 (GRCm39) |
K2251E |
possibly damaging |
Het |
| Tbce |
C |
T |
13: 14,194,327 (GRCm39) |
V111M |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,532,155 (GRCm39) |
L92P |
probably damaging |
Het |
| Tnr |
T |
A |
1: 159,713,778 (GRCm39) |
D735E |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,649,771 (GRCm39) |
H110R |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vps13a |
G |
A |
19: 16,681,153 (GRCm39) |
T1041M |
probably benign |
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 |
|
R5190:Unc5b
|
UTSW |
10 |
60,608,072 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
|
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'- CTTCAAGACTGGCCAACTGTG -3'
(R):5'- AGGTGTTCATGGTACTCTCCC -3'
Sequencing Primer
(F):5'- CTGTGTGGCAGGGTGGG -3'
(R):5'- CTCCACAGGCGTTGACTCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation