Incidental Mutation 'R5342:Unc5b'
| ID |
422396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| MMRRC Submission |
042921-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5342 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 60614046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 268
(K268*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077925]
[ENSMUST00000218637]
|
| AlphaFold |
Q8K1S3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077925
AA Change: K268*
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: K268*
| 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 null
Transcript: ENSMUST00000218637
AA Change: K268*
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb3 |
A |
C |
8: 27,716,809 (GRCm39) |
Y392* |
probably null |
Het |
| Arap1 |
G |
A |
7: 101,054,167 (GRCm39) |
E1330K |
probably benign |
Het |
| Atg2b |
G |
T |
12: 105,625,175 (GRCm39) |
D600E |
possibly damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,654 (GRCm39) |
V142I |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,847 (GRCm39) |
M450K |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,719,470 (GRCm39) |
|
silent |
Het |
| Cdca7l |
A |
G |
12: 117,840,768 (GRCm39) |
Y430C |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,872,775 (GRCm39) |
T343A |
probably benign |
Het |
| Clec2g |
C |
T |
6: 128,925,714 (GRCm39) |
A41V |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,342,512 (GRCm39) |
Y2708N |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,803 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
T |
18: 50,084,302 (GRCm39) |
E2758V |
probably damaging |
Het |
| Eci2 |
C |
T |
13: 35,162,707 (GRCm39) |
E283K |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,253,639 (GRCm39) |
|
probably null |
Het |
| Eif3b |
T |
C |
5: 140,411,035 (GRCm39) |
L162P |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,378,648 (GRCm39) |
I210V |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,714,861 (GRCm39) |
N739S |
probably damaging |
Het |
| Gm7334 |
A |
G |
17: 51,005,782 (GRCm39) |
K23E |
probably benign |
Het |
| Gm7356 |
T |
G |
17: 14,221,360 (GRCm39) |
D223A |
possibly damaging |
Het |
| Klhl26 |
A |
G |
8: 70,908,215 (GRCm39) |
L47P |
probably damaging |
Het |
| Klhl42 |
C |
T |
6: 146,993,784 (GRCm39) |
T252I |
possibly damaging |
Het |
| Morc1 |
G |
T |
16: 48,438,872 (GRCm39) |
G756W |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,943,615 (GRCm39) |
E384* |
probably null |
Het |
| Nol10 |
G |
A |
12: 17,419,621 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
T |
C |
5: 138,237,503 (GRCm39) |
L9P |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,448,836 (GRCm39) |
I92T |
probably damaging |
Het |
| Or52z12 |
C |
T |
7: 103,234,035 (GRCm39) |
R269C |
probably benign |
Het |
| Or7e166 |
A |
G |
9: 19,624,333 (GRCm39) |
D70G |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,863,306 (GRCm39) |
E94G |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,724 (GRCm39) |
K250E |
possibly damaging |
Het |
| Pde8b |
T |
C |
13: 95,178,498 (GRCm39) |
T541A |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,969 (GRCm39) |
I751N |
probably damaging |
Het |
| Prpsap2 |
T |
C |
11: 61,622,396 (GRCm39) |
D269G |
probably damaging |
Het |
| Raver2 |
C |
A |
4: 100,959,889 (GRCm39) |
T123K |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,816 (GRCm39) |
Y108C |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,069,923 (GRCm39) |
E139G |
probably damaging |
Het |
| Sgpp2 |
A |
G |
1: 78,336,825 (GRCm39) |
I68V |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,249,050 (GRCm39) |
I687N |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,784,911 (GRCm39) |
|
probably null |
Het |
| Stk16 |
T |
A |
1: 75,189,609 (GRCm39) |
C174S |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,937,819 (GRCm39) |
E80G |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,833,572 (GRCm39) |
N198K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,838,105 (GRCm39) |
D915E |
probably benign |
Het |
| Vim |
T |
A |
2: 13,584,824 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
Het |
| Zfp160 |
T |
G |
17: 21,240,995 (GRCm39) |
M21R |
possibly 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 |
|
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 |
|
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'- ATAGAGTACCCTGAGGACCTGG -3'
(R):5'- CAGTCCCACAGATGAATGGC -3'
Sequencing Primer
(F):5'- CTCTTTGCCACTGGGAGAAG -3'
(R):5'- TGAATGGCTCCAACCAGAGTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation