Incidental Mutation 'R9188:Unc5b'
| ID |
697531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| MMRRC Submission |
068980-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60609550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 582
(L582Q)
|
| 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: L582Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: L582Q
| 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: L571Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
G |
T |
6: 83,139,230 (GRCm39) |
R385L |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,872,561 (GRCm39) |
C13* |
probably null |
Het |
| Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,571 (GRCm39) |
R10C |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,390,983 (GRCm39) |
I4V |
possibly damaging |
Het |
| Asic2 |
A |
G |
11: 81,042,738 (GRCm39) |
F185S |
probably benign |
Het |
| Asmt |
G |
A |
X: 169,111,583 (GRCm39) |
E322K |
probably damaging |
Het |
| Caprin2 |
T |
C |
6: 148,767,422 (GRCm39) |
D512G |
probably benign |
Het |
| Cltc |
A |
C |
11: 86,627,992 (GRCm39) |
I52S |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,443,276 (GRCm39) |
L1040P |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,509,614 (GRCm39) |
T3019A |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,192,990 (GRCm39) |
C242* |
probably null |
Het |
| Crocc |
G |
T |
4: 140,747,151 (GRCm39) |
N1716K |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,439,223 (GRCm39) |
E12G |
possibly damaging |
Het |
| Dnai4 |
T |
C |
4: 102,939,332 (GRCm39) |
T77A |
|
Het |
| Drc3 |
G |
T |
11: 60,249,615 (GRCm39) |
V45F |
probably damaging |
Het |
| Etv4 |
A |
G |
11: 101,666,202 (GRCm39) |
S108P |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,643,017 (GRCm39) |
D31E |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,698,736 (GRCm39) |
D469E |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,523,797 (GRCm39) |
H560R |
probably benign |
Het |
| Gabrp |
A |
G |
11: 33,517,252 (GRCm39) |
I140T |
possibly damaging |
Het |
| Get1 |
A |
G |
16: 95,955,363 (GRCm39) |
D140G |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,343,798 (GRCm39) |
T288A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,700,756 (GRCm39) |
D586G |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,484,778 (GRCm39) |
V213A |
probably damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,216 (GRCm39) |
D258E |
probably damaging |
Het |
| Ier3 |
G |
T |
17: 36,132,779 (GRCm39) |
G57W |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,426,171 (GRCm39) |
C85S |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,710,942 (GRCm39) |
G384C |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Jak2 |
A |
C |
19: 29,288,353 (GRCm39) |
D1068A |
probably damaging |
Het |
| Klk4 |
T |
C |
7: 43,534,797 (GRCm39) |
I252T |
probably damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,523 (GRCm39) |
C237S |
probably damaging |
Het |
| Krtap1-3 |
T |
C |
11: 99,481,887 (GRCm39) |
T87A |
unknown |
Het |
| Lbhd1 |
A |
T |
19: 8,864,397 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
A |
G |
10: 125,838,935 (GRCm39) |
R481G |
possibly damaging |
Het |
| Lrrc1 |
T |
C |
9: 77,362,487 (GRCm39) |
Y247C |
probably benign |
Het |
| Marchf1 |
T |
A |
8: 66,908,803 (GRCm39) |
Y174* |
probably null |
Het |
| Mlxip |
A |
T |
5: 123,583,642 (GRCm39) |
T402S |
probably benign |
Het |
| Mmd2 |
T |
C |
5: 142,560,957 (GRCm39) |
K93E |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,579,792 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,566,789 (GRCm39) |
I487V |
probably benign |
Het |
| Nectin2 |
A |
G |
7: 19,453,119 (GRCm39) |
|
probably null |
Het |
| Nfkbia |
A |
T |
12: 55,537,258 (GRCm39) |
L277H |
probably damaging |
Het |
| Or4n5 |
T |
C |
14: 50,132,366 (GRCm39) |
M298V |
probably benign |
Het |
| Or52r1 |
T |
A |
7: 102,536,596 (GRCm39) |
I255F |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,534,095 (GRCm39) |
V1410M |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,188 (GRCm39) |
N506S |
probably damaging |
Het |
| Pik3c2g |
A |
C |
6: 139,599,401 (GRCm39) |
E172D |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,075 (GRCm39) |
D466G |
probably null |
Het |
| Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,747 (GRCm39) |
S509T |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,961,486 (GRCm39) |
D133G |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,594,263 (GRCm39) |
I394M |
probably benign |
Het |
| Rgl1 |
G |
T |
1: 152,394,922 (GRCm39) |
N715K |
probably damaging |
Het |
| Rnf212 |
G |
T |
5: 108,922,811 (GRCm39) |
S13* |
probably null |
Het |
| Rpgrip1l |
T |
C |
8: 92,031,638 (GRCm39) |
T80A |
probably damaging |
Het |
| Rsl1 |
G |
T |
13: 67,330,185 (GRCm39) |
S211I |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,843 (GRCm39) |
M304V |
probably damaging |
Het |
| Sh3rf1 |
G |
T |
8: 61,814,807 (GRCm39) |
|
probably null |
Het |
| Snx16 |
C |
A |
3: 10,485,835 (GRCm39) |
K261N |
possibly damaging |
Het |
| Srebf2 |
G |
A |
15: 82,066,357 (GRCm39) |
R635Q |
probably benign |
Het |
| Styxl1 |
T |
C |
5: 135,794,672 (GRCm39) |
|
probably null |
Het |
| Tarbp2 |
A |
G |
15: 102,430,946 (GRCm39) |
D233G |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,421,234 (GRCm39) |
N633Y |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,693 (GRCm39) |
L190P |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,233,244 (GRCm39) |
G55D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,733,468 (GRCm39) |
Y4602* |
probably null |
Het |
| Wdpcp |
A |
G |
11: 21,610,025 (GRCm39) |
D31G |
probably damaging |
Het |
| Zbtb32 |
C |
T |
7: 30,291,320 (GRCm39) |
|
probably benign |
Het |
| Zfp936 |
C |
T |
7: 42,839,768 (GRCm39) |
L412F |
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 |
|
|
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 |
|
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'- GCTGTTGCTAGGTTCTACCC -3'
(R):5'- CCTGTATTCATGGGCAGACC -3'
Sequencing Primer
(F):5'- GCTAGGTTCTACCCATTAGAATATGC -3'
(R):5'- AAGTAGCCTGTGTGCTCCCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation