Incidental Mutation 'R6294:Unc5b'
| ID |
508617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| MMRRC Submission |
044406-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6294 (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 60614110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 246
(N246K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077925]
[ENSMUST00000218637]
|
| AlphaFold |
Q8K1S3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077925
AA Change: N246K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: N246K
| 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 |
possibly damaging
Transcript: ENSMUST00000218637
AA Change: N246K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.2181 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
99% (71/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,631,440 (GRCm39) |
H579L |
probably benign |
Het |
| Aldh2 |
G |
A |
5: 121,710,879 (GRCm39) |
Q8* |
probably null |
Het |
| Ankdd1a |
G |
T |
9: 65,427,446 (GRCm39) |
H10Q |
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,956,520 (GRCm39) |
F453L |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,996,252 (GRCm39) |
D4461E |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,609,069 (GRCm39) |
S411T |
possibly damaging |
Het |
| Camk2g |
A |
G |
14: 20,815,017 (GRCm39) |
I203T |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,290,640 (GRCm39) |
C425S |
probably benign |
Het |
| Ccdc34 |
A |
G |
2: 109,848,496 (GRCm39) |
D95G |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,630,946 (GRCm39) |
S305G |
probably null |
Het |
| Cul7 |
T |
C |
17: 46,974,074 (GRCm39) |
I1453T |
probably benign |
Het |
| Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
| Dync2h1 |
T |
G |
9: 7,084,986 (GRCm39) |
K561T |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,993,564 (GRCm39) |
T359A |
probably benign |
Het |
| Far2 |
T |
A |
6: 148,058,980 (GRCm39) |
L222Q |
probably damaging |
Het |
| Fbxw17 |
A |
G |
13: 50,577,839 (GRCm39) |
E114G |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,349,102 (GRCm39) |
|
probably benign |
Het |
| Ggn |
A |
G |
7: 28,873,273 (GRCm39) |
D666G |
possibly damaging |
Het |
| Hal |
G |
A |
10: 93,350,005 (GRCm39) |
|
probably null |
Het |
| Htt |
A |
G |
5: 34,979,170 (GRCm39) |
D851G |
probably benign |
Het |
| Ighv14-2 |
A |
T |
12: 113,958,218 (GRCm39) |
D74E |
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,800,426 (GRCm39) |
S87L |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,133,995 (GRCm39) |
F720I |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,602,196 (GRCm39) |
Y43N |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,880,989 (GRCm39) |
Y7N |
unknown |
Het |
| Lama4 |
T |
A |
10: 38,951,466 (GRCm39) |
F1070L |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,831,814 (GRCm39) |
E98G |
possibly damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,306,319 (GRCm39) |
M581T |
probably benign |
Het |
| Mtss2 |
T |
A |
8: 111,453,960 (GRCm39) |
N43K |
possibly damaging |
Het |
| Mylk3 |
T |
A |
8: 86,077,012 (GRCm39) |
I475F |
probably damaging |
Het |
| Nat14 |
C |
T |
7: 4,927,073 (GRCm39) |
R82* |
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,371,858 (GRCm39) |
N324S |
probably benign |
Het |
| Nemp1 |
C |
T |
10: 127,530,391 (GRCm39) |
T281M |
possibly damaging |
Het |
| Nrg3 |
A |
T |
14: 38,119,196 (GRCm39) |
H425Q |
probably benign |
Het |
| Omd |
T |
A |
13: 49,743,467 (GRCm39) |
N172K |
probably damaging |
Het |
| Or10c1 |
T |
C |
17: 37,522,517 (GRCm39) |
T76A |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,610,444 (GRCm39) |
T290S |
probably benign |
Het |
| Or4f62 |
A |
G |
2: 111,986,364 (GRCm39) |
I23V |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,288,798 (GRCm39) |
M183T |
probably damaging |
Het |
| Or52r1c |
A |
T |
7: 102,734,874 (GRCm39) |
I45F |
probably benign |
Het |
| Or5b123 |
T |
C |
19: 13,596,730 (GRCm39) |
V25A |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,447,867 (GRCm39) |
I38T |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,172,304 (GRCm39) |
T457A |
possibly damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,715,108 (GRCm39) |
K924N |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,433,424 (GRCm39) |
I3435F |
probably damaging |
Het |
| Psg20 |
C |
A |
7: 18,416,604 (GRCm39) |
V171F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,531 (GRCm39) |
S87T |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,059,419 (GRCm39) |
T237A |
probably benign |
Het |
| Rasgrp1 |
A |
T |
2: 117,122,273 (GRCm39) |
Y372* |
probably null |
Het |
| Rell1 |
G |
T |
5: 64,097,048 (GRCm39) |
|
probably benign |
Het |
| Rps14 |
A |
G |
18: 60,910,033 (GRCm39) |
K61E |
possibly damaging |
Het |
| Rtl6 |
A |
G |
15: 84,441,321 (GRCm39) |
V25A |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,894,382 (GRCm39) |
S185R |
probably damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,141,621 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
T |
A |
18: 78,153,273 (GRCm39) |
|
probably null |
Het |
| Smad2 |
A |
T |
18: 76,422,233 (GRCm39) |
N215I |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,677,922 (GRCm39) |
N1473K |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,984,311 (GRCm39) |
|
probably null |
Het |
| Stk31 |
A |
C |
6: 49,394,278 (GRCm39) |
R213S |
probably benign |
Het |
| Tmod4 |
A |
T |
3: 95,035,617 (GRCm39) |
Q255L |
probably benign |
Het |
| Tnpo1 |
T |
A |
13: 99,027,282 (GRCm39) |
Y3F |
probably benign |
Het |
| Tom1l1 |
A |
C |
11: 90,552,587 (GRCm39) |
Y206* |
probably null |
Het |
| Tulp2 |
A |
G |
7: 45,164,116 (GRCm39) |
K36E |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,252,094 (GRCm39) |
R282C |
probably damaging |
Het |
| Ush2a |
C |
G |
1: 188,268,567 (GRCm39) |
S1674R |
possibly damaging |
Het |
| Vmn1r224 |
T |
C |
17: 20,640,083 (GRCm39) |
I220T |
probably benign |
Het |
| Vmn1r7 |
G |
C |
6: 57,001,404 (GRCm39) |
N285K |
probably benign |
Het |
| Vmn2r83 |
C |
T |
10: 79,313,688 (GRCm39) |
P99S |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,282 (GRCm39) |
F601L |
probably benign |
Het |
| Zc3h3 |
A |
T |
15: 75,681,417 (GRCm39) |
S555T |
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 |
|
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 |
|
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'- GGTAGTGTCCCAACTCCATAC -3'
(R):5'- TGAGACAGTGACTTCCTAGGC -3'
Sequencing Primer
(F):5'- GGTAGTGTCCCAACTCCATACATATC -3'
(R):5'- AGTGACTTCCTAGGCCCTCTCAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation