Incidental Mutation 'R5822:Unc5b'
| ID |
449984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| MMRRC Submission |
044052-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5822 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60608306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 635
(F635I)
|
| 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: F635I
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: F635I
| 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: F624I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Meta Mutation Damage Score |
0.1295 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (54/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8a |
C |
T |
11: 109,921,705 (GRCm39) |
E1450K |
probably damaging |
Het |
| B4galnt2 |
T |
C |
11: 95,756,985 (GRCm39) |
Y482C |
probably damaging |
Het |
| Bud23 |
A |
G |
5: 135,092,775 (GRCm39) |
F9L |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,039,816 (GRCm39) |
E1214V |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,861,823 (GRCm39) |
M1T |
probably null |
Het |
| Chkb |
T |
C |
15: 89,313,715 (GRCm39) |
E30G |
probably benign |
Het |
| Crp |
A |
C |
1: 172,525,635 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,670 (GRCm39) |
R375G |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,436,976 (GRCm39) |
S90L |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,459,429 (GRCm39) |
I2510L |
probably damaging |
Het |
| Ftdc1 |
C |
A |
16: 58,436,075 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
T |
A |
15: 6,692,707 (GRCm39) |
|
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,272,239 (GRCm39) |
P247L |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,981 (GRCm39) |
P454S |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,352,894 (GRCm39) |
S2127T |
probably benign |
Het |
| Ipo11 |
A |
G |
13: 106,984,926 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,546,582 (GRCm39) |
R1000W |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
C |
T |
7: 19,129,724 (GRCm39) |
|
probably null |
Het |
| Lst1 |
A |
T |
17: 35,407,359 (GRCm39) |
M3K |
unknown |
Het |
| Madd |
C |
T |
2: 90,982,878 (GRCm39) |
R1355Q |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,356,159 (GRCm39) |
L920P |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,109 (GRCm39) |
V423A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,869,112 (GRCm39) |
D302G |
possibly damaging |
Het |
| Nkapl |
A |
C |
13: 21,652,593 (GRCm39) |
S7A |
unknown |
Het |
| Npas2 |
A |
G |
1: 39,386,647 (GRCm39) |
S639G |
probably benign |
Het |
| Nr1h5 |
T |
G |
3: 102,856,644 (GRCm39) |
H260P |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,122 (GRCm39) |
Y34C |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,464 (GRCm39) |
L306Q |
possibly damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,787 (GRCm39) |
S222P |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,087 (GRCm39) |
M163V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,249 (GRCm39) |
L1142P |
probably damaging |
Het |
| Pdik1l |
C |
T |
4: 134,014,474 (GRCm39) |
E11K |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,172,727 (GRCm39) |
V555A |
probably damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,064 (GRCm39) |
Q81* |
probably null |
Het |
| Pramel18 |
A |
G |
4: 101,767,440 (GRCm39) |
M230V |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,444 (GRCm39) |
Y1178F |
probably benign |
Het |
| Relch |
G |
A |
1: 105,646,581 (GRCm39) |
V660M |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,339,886 (GRCm39) |
L860Q |
probably damaging |
Het |
| Sdr39u1 |
A |
G |
14: 56,135,196 (GRCm39) |
V249A |
probably benign |
Het |
| Serhl |
T |
C |
15: 83,000,528 (GRCm39) |
V305A |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,851,654 (GRCm39) |
I201T |
probably damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,552 (GRCm39) |
E334V |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,529 (GRCm39) |
L67P |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,519,345 (GRCm39) |
L12* |
probably null |
Het |
| Trim80 |
C |
T |
11: 115,338,747 (GRCm39) |
R526C |
probably damaging |
Het |
| Utp20 |
T |
G |
10: 88,653,147 (GRCm39) |
N311T |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,982,457 (GRCm39) |
T74A |
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 |
|
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'- CAGGATGTGGCAGGACTTAG -3'
(R):5'- GCTCCACAAGAGTCGAGTATC -3'
Sequencing Primer
(F):5'- ATGTGGCAGGACTTAGCCTCC -3'
(R):5'- GTCGAGTATCCCTGATGAATGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation