Incidental Mutation 'R5909:Unc5b'
| ID |
460860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| MMRRC Submission |
044106-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 60608138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 654
(L654R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077925]
[ENSMUST00000218637]
|
| AlphaFold |
Q8K1S3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077925
AA Change: L665R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: L665R
| 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 damaging
Transcript: ENSMUST00000218637
AA Change: L654R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
T |
C |
9: 30,873,224 (GRCm39) |
S810P |
probably benign |
Het |
| Adcy7 |
A |
T |
8: 89,052,124 (GRCm39) |
I931F |
probably damaging |
Het |
| Alcam |
G |
T |
16: 52,111,356 (GRCm39) |
Q248K |
probably benign |
Het |
| Astn1 |
A |
C |
1: 158,429,507 (GRCm39) |
R750S |
probably damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,114,797 (GRCm39) |
N329K |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,791,556 (GRCm39) |
V266A |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,228,794 (GRCm39) |
V278A |
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,437,111 (GRCm39) |
E493G |
probably damaging |
Het |
| Cpvl |
T |
C |
6: 53,909,413 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ddx55 |
T |
C |
5: 124,704,913 (GRCm39) |
M390T |
probably benign |
Het |
| Ero1b |
A |
G |
13: 12,594,139 (GRCm39) |
E102G |
probably benign |
Het |
| Etnk1 |
A |
G |
6: 143,143,164 (GRCm39) |
D273G |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,347,643 (GRCm39) |
V109A |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,091 (GRCm39) |
I58N |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,538,672 (GRCm39) |
V589E |
probably benign |
Het |
| Fbll1 |
G |
A |
11: 35,689,159 (GRCm39) |
R35C |
unknown |
Het |
| Fnbp1 |
A |
G |
2: 30,938,211 (GRCm39) |
|
probably null |
Het |
| Glce |
G |
T |
9: 61,967,426 (GRCm39) |
A575D |
probably damaging |
Het |
| Ift20 |
T |
A |
11: 78,430,867 (GRCm39) |
M70K |
possibly damaging |
Het |
| Impg2 |
T |
C |
16: 56,078,499 (GRCm39) |
V487A |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,619,426 (GRCm39) |
D206G |
probably benign |
Het |
| Jak3 |
A |
G |
8: 72,136,875 (GRCm39) |
I684V |
possibly damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,306 (GRCm39) |
S1169N |
probably benign |
Het |
| Krt35 |
A |
T |
11: 99,986,639 (GRCm39) |
L125Q |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,948,855 (GRCm39) |
A873T |
probably benign |
Het |
| Lrch4 |
T |
C |
5: 137,632,127 (GRCm39) |
S74P |
possibly damaging |
Het |
| Maneal |
A |
T |
4: 124,750,966 (GRCm39) |
Y263* |
probably null |
Het |
| Mcat |
C |
T |
15: 83,432,116 (GRCm39) |
A251T |
probably benign |
Het |
| Mup3 |
T |
G |
4: 62,004,244 (GRCm39) |
T90P |
probably benign |
Het |
| Mybpc2 |
G |
A |
7: 44,156,515 (GRCm39) |
A812V |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,367,485 (GRCm39) |
F503L |
probably damaging |
Het |
| Nudt8 |
T |
C |
19: 4,050,727 (GRCm39) |
L25S |
possibly damaging |
Het |
| Oas1e |
A |
T |
5: 120,926,972 (GRCm39) |
V245D |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,417,054 (GRCm39) |
M109T |
possibly damaging |
Het |
| Or4c58 |
A |
G |
2: 89,674,735 (GRCm39) |
V194A |
possibly damaging |
Het |
| Or4p18 |
A |
T |
2: 88,232,535 (GRCm39) |
F248I |
probably damaging |
Het |
| Phkb |
G |
T |
8: 86,748,076 (GRCm39) |
|
probably null |
Het |
| Pidd1 |
A |
C |
7: 141,021,183 (GRCm39) |
L365R |
probably damaging |
Het |
| Pira12 |
G |
A |
7: 3,900,621 (GRCm39) |
T43I |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,750,795 (GRCm39) |
R1739C |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,390,159 (GRCm39) |
W1425L |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,181 (GRCm39) |
L145P |
probably damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,945,649 (GRCm39) |
D941E |
probably benign |
Het |
| Prdm13 |
G |
T |
4: 21,683,894 (GRCm39) |
Q126K |
unknown |
Het |
| Rbm25 |
T |
A |
12: 83,728,362 (GRCm39) |
V837E |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,444,379 (GRCm39) |
Y357N |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,919,884 (GRCm39) |
N882K |
probably damaging |
Het |
| Sox13 |
A |
G |
1: 133,311,627 (GRCm39) |
I535T |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,040,291 (GRCm39) |
S2408P |
probably benign |
Het |
| Stat3 |
G |
A |
11: 100,794,556 (GRCm39) |
T251I |
probably benign |
Het |
| Sulf1 |
A |
T |
1: 12,929,039 (GRCm39) |
D102V |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tmem145 |
G |
T |
7: 25,007,618 (GRCm39) |
L208F |
possibly damaging |
Het |
| Trim17 |
A |
T |
11: 58,859,506 (GRCm39) |
E240V |
probably damaging |
Het |
| Trim43b |
A |
T |
9: 88,967,451 (GRCm39) |
I395K |
possibly damaging |
Het |
| Trmt61a |
C |
A |
12: 111,647,292 (GRCm39) |
H130N |
probably damaging |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,269 (GRCm39) |
S255T |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,109 (GRCm39) |
F677S |
probably benign |
Het |
| Zfp493 |
T |
A |
13: 67,934,717 (GRCm39) |
C223* |
probably null |
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 |
|
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'- TCTGGGGAGGGTTCTAACAAC -3'
(R):5'- TGGATCTTTCAGCTCAAGACCC -3'
Sequencing Primer
(F):5'- CTACCTTCAGTGCTACAGGTGTG -3'
(R):5'- TTTCAGCTCAAGACCCAGGCC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation