Incidental Mutation 'R0662:Unc5b'
ID |
61909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc5b
|
Ensembl Gene |
ENSMUSG00000020099 |
Gene Name |
unc-5 netrin receptor B |
Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
MMRRC Submission |
038847-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0662 (G1)
|
Quality Score |
158 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 60608362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 616
(R616L)
|
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 |
possibly damaging
Transcript: ENSMUST00000077925
AA Change: R616L
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000077080 Gene: ENSMUSG00000020099 AA Change: R616L
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: R605L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,898,338 (GRCm39) |
S241P |
probably benign |
Het |
Ankrd53 |
G |
T |
6: 83,740,625 (GRCm39) |
V83L |
probably damaging |
Het |
Armcx2 |
G |
A |
X: 133,706,385 (GRCm39) |
T416I |
possibly damaging |
Het |
C4b |
G |
A |
17: 34,949,862 (GRCm39) |
R1441C |
probably damaging |
Het |
Cacng3 |
T |
C |
7: 122,367,582 (GRCm39) |
I154T |
probably damaging |
Het |
Cand2 |
A |
G |
6: 115,764,171 (GRCm39) |
D315G |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,305,836 (GRCm39) |
S2089R |
probably damaging |
Het |
Chd9 |
A |
C |
8: 91,704,304 (GRCm39) |
K247Q |
probably damaging |
Het |
Chi3l1 |
A |
C |
1: 134,116,311 (GRCm39) |
S263R |
probably damaging |
Het |
Clec12b |
A |
C |
6: 129,353,200 (GRCm39) |
C262W |
probably damaging |
Het |
Cpsf7 |
T |
C |
19: 10,503,372 (GRCm39) |
M1T |
probably null |
Het |
Cul3 |
T |
C |
1: 80,249,282 (GRCm39) |
D597G |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,802,964 (GRCm39) |
V251A |
possibly damaging |
Het |
Dennd2b |
G |
T |
7: 109,156,633 (GRCm39) |
P39Q |
probably damaging |
Het |
Eno2 |
A |
T |
6: 124,740,774 (GRCm39) |
F218I |
probably damaging |
Het |
Frmd6 |
A |
T |
12: 70,946,218 (GRCm39) |
R549* |
probably null |
Het |
Fyb2 |
G |
A |
4: 104,852,895 (GRCm39) |
S461N |
possibly damaging |
Het |
Gm5709 |
A |
T |
3: 59,514,164 (GRCm39) |
|
noncoding transcript |
Het |
Hormad1 |
T |
C |
3: 95,482,910 (GRCm39) |
I132T |
probably benign |
Het |
Itga7 |
G |
T |
10: 128,789,400 (GRCm39) |
R981L |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,065,306 (GRCm39) |
N153K |
probably damaging |
Het |
Itih1 |
T |
C |
14: 30,655,317 (GRCm39) |
E626G |
possibly damaging |
Het |
Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
A |
T |
3: 107,012,717 (GRCm39) |
T433S |
probably benign |
Het |
Map4k5 |
A |
G |
12: 69,859,927 (GRCm39) |
V673A |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,577,651 (GRCm39) |
V281E |
probably benign |
Het |
Nr2c1 |
A |
T |
10: 94,026,600 (GRCm39) |
I492F |
probably damaging |
Het |
Or14c39 |
A |
G |
7: 86,343,838 (GRCm39) |
Y58C |
possibly damaging |
Het |
Or2ag19 |
A |
T |
7: 106,443,856 (GRCm39) |
I13F |
probably benign |
Het |
Or2r3 |
C |
T |
6: 42,448,708 (GRCm39) |
V135M |
possibly damaging |
Het |
Or2y3 |
A |
G |
17: 38,393,824 (GRCm39) |
I15T |
probably benign |
Het |
Or7d10 |
G |
C |
9: 19,831,796 (GRCm39) |
C97S |
probably damaging |
Het |
Or7e170 |
T |
C |
9: 19,795,248 (GRCm39) |
M118V |
probably benign |
Het |
Or8b47 |
T |
A |
9: 38,435,322 (GRCm39) |
M98K |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,669,477 (GRCm39) |
M237T |
probably damaging |
Het |
Plekhh1 |
A |
G |
12: 79,125,767 (GRCm39) |
T1268A |
probably benign |
Het |
Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
Rhcg |
C |
T |
7: 79,249,477 (GRCm39) |
V310M |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,799,614 (GRCm39) |
D906E |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,621,288 (GRCm39) |
L262Q |
probably damaging |
Het |
Shprh |
G |
A |
10: 11,062,591 (GRCm39) |
V1233I |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,344,635 (GRCm39) |
E267G |
possibly damaging |
Het |
Slc5a5 |
T |
A |
8: 71,336,519 (GRCm39) |
T616S |
probably benign |
Het |
Syne3 |
T |
G |
12: 104,927,769 (GRCm39) |
E318A |
probably benign |
Het |
Tecpr2 |
A |
G |
12: 110,862,662 (GRCm39) |
T25A |
probably benign |
Het |
Ubxn1 |
T |
A |
19: 8,852,561 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
G |
1: 188,083,290 (GRCm39) |
T278A |
probably benign |
Het |
Utp14b |
A |
G |
1: 78,642,716 (GRCm39) |
T205A |
probably damaging |
Het |
Vmn1r219 |
T |
C |
13: 23,347,623 (GRCm39) |
S271P |
possibly damaging |
Het |
Vmn2r76 |
C |
T |
7: 85,879,578 (GRCm39) |
V241M |
probably benign |
Het |
Zbtb24 |
G |
A |
10: 41,338,275 (GRCm39) |
G429D |
probably damaging |
Het |
Zdhhc2 |
T |
C |
8: 40,900,139 (GRCm39) |
S68P |
probably damaging |
Het |
Zfp719 |
G |
A |
7: 43,233,678 (GRCm39) |
M32I |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,950 (GRCm39) |
N221S |
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 |
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 |
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'- TCATCCAAGGTCACCACCTCCTATG -3'
(R):5'- AGATCTCGTCCCAGTCAGCAAAGG -3'
Sequencing Primer
(F):5'- CTATGGGGGACGAAGAGGAC -3'
(R):5'- AGTGACTTGCCTTGGCAC -3'
|
Posted On |
2013-07-30 |