Incidental Mutation 'R7270:Unc5b'
| ID |
565237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| MMRRC Submission |
045390-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 60608002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 710
(Y710*)
|
| 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 |
probably null
Transcript: ENSMUST00000077925
AA Change: Y710*
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: Y710*
| 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 |
probably null
Transcript: ENSMUST00000218637
AA Change: Y699*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
A |
T |
10: 42,301,245 (GRCm39) |
Y193N |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Aimp1 |
T |
C |
3: 132,382,772 (GRCm39) |
K44E |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,046,318 (GRCm39) |
Y369N |
unknown |
Het |
| Art5 |
A |
T |
7: 101,747,080 (GRCm39) |
V233D |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,792,836 (GRCm39) |
N431Y |
possibly damaging |
Het |
| Bik |
T |
A |
15: 83,428,364 (GRCm39) |
F131I |
possibly damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,163,082 (GRCm39) |
Y103H |
probably damaging |
Het |
| Cabp7 |
C |
T |
11: 4,696,676 (GRCm39) |
V18M |
possibly damaging |
Het |
| Cacna1a |
C |
A |
8: 85,297,866 (GRCm39) |
T1240N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,603,739 (GRCm39) |
V1311A |
probably damaging |
Het |
| Cbarp |
A |
C |
10: 79,973,151 (GRCm39) |
S16A |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ces2b |
A |
T |
8: 105,564,472 (GRCm39) |
H494L |
possibly damaging |
Het |
| Cfap43 |
T |
A |
19: 47,728,224 (GRCm39) |
H1511L |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,675,320 (GRCm39) |
V2867A |
probably benign |
Het |
| Col5a1 |
C |
T |
2: 27,887,597 (GRCm39) |
P956L |
unknown |
Het |
| Dcakd |
T |
G |
11: 102,891,032 (GRCm39) |
Q19P |
possibly damaging |
Het |
| Ddx47 |
T |
A |
6: 135,000,301 (GRCm39) |
D432E |
probably benign |
Het |
| Dhrs7b |
T |
C |
11: 60,735,055 (GRCm39) |
F29L |
probably benign |
Het |
| Dis3l2 |
A |
T |
1: 86,918,025 (GRCm39) |
D558V |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,754,027 (GRCm39) |
D193V |
probably damaging |
Het |
| Eif1ad12 |
T |
C |
12: 87,541,663 (GRCm39) |
L58P |
probably damaging |
Het |
| Epha4 |
G |
A |
1: 77,376,422 (GRCm39) |
R486C |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,842,033 (GRCm39) |
T1404A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,490,475 (GRCm39) |
T3796A |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,518,929 (GRCm39) |
W204R |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,091 (GRCm39) |
I136V |
probably benign |
Het |
| Gm10300 |
T |
C |
4: 131,802,167 (GRCm39) |
W54R |
unknown |
Het |
| Gm10518 |
C |
T |
1: 179,630,949 (GRCm39) |
P3L |
unknown |
Het |
| Grm2 |
G |
A |
9: 106,528,257 (GRCm39) |
T209M |
probably damaging |
Het |
| Gtdc1 |
C |
T |
2: 44,525,322 (GRCm39) |
M176I |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,710,440 (GRCm39) |
L382P |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,708,011 (GRCm39) |
V734A |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,638,472 (GRCm39) |
R586H |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,279,838 (GRCm39) |
D721E |
probably damaging |
Het |
| Knl1 |
G |
A |
2: 118,933,003 (GRCm39) |
C2054Y |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,584,644 (GRCm39) |
P354S |
probably benign |
Het |
| Luzp2 |
A |
G |
7: 54,724,774 (GRCm39) |
I112V |
probably damaging |
Het |
| Mgl2 |
T |
C |
11: 70,026,506 (GRCm39) |
S105P |
probably damaging |
Het |
| Mocs1 |
T |
A |
17: 49,756,143 (GRCm39) |
M200K |
possibly damaging |
Het |
| Oat |
T |
A |
7: 132,168,927 (GRCm39) |
I98L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,920,312 (GRCm39) |
Y8C |
|
Het |
| Or5b108 |
G |
A |
19: 13,168,768 (GRCm39) |
V246I |
possibly damaging |
Het |
| Or6c1b |
T |
G |
10: 129,273,319 (GRCm39) |
F213V |
probably benign |
Het |
| Pde1b |
T |
A |
15: 103,430,082 (GRCm39) |
M137K |
possibly damaging |
Het |
| Phf21a |
T |
C |
2: 92,157,484 (GRCm39) |
I204T |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,593,838 (GRCm39) |
E321G |
possibly damaging |
Het |
| Plpp7 |
C |
T |
2: 31,985,662 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
A |
G |
10: 44,317,566 (GRCm39) |
I419T |
probably benign |
Het |
| Sec16b |
A |
T |
1: 157,392,032 (GRCm39) |
R855W |
probably damaging |
Het |
| Sec16b |
G |
T |
1: 157,392,033 (GRCm39) |
R855M |
probably damaging |
Het |
| Sec31b |
T |
C |
19: 44,511,482 (GRCm39) |
T640A |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,471 (GRCm39) |
T425A |
possibly damaging |
Het |
| Sirpd |
A |
T |
3: 15,385,704 (GRCm39) |
I66N |
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,324 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
A |
7: 16,519,623 (GRCm39) |
V200M |
probably damaging |
Het |
| Slc25a12 |
T |
C |
2: 71,154,369 (GRCm39) |
H139R |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,961,630 (GRCm39) |
V187D |
probably damaging |
Het |
| Slc35a3 |
G |
A |
3: 116,505,455 (GRCm39) |
|
probably benign |
Het |
| Smap2 |
C |
A |
4: 120,829,264 (GRCm39) |
M328I |
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,600,066 (GRCm39) |
|
probably null |
Het |
| Srarp |
A |
G |
4: 141,160,389 (GRCm39) |
V148A |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,464,755 (GRCm39) |
Y73* |
probably null |
Het |
| Tars1 |
A |
G |
15: 11,392,105 (GRCm39) |
C236R |
probably benign |
Het |
| Tchh |
G |
C |
3: 93,351,837 (GRCm39) |
D426H |
unknown |
Het |
| Tnks2 |
T |
C |
19: 36,836,545 (GRCm39) |
F17S |
|
Het |
| Ube2g1 |
T |
C |
11: 72,553,939 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ube2o |
C |
T |
11: 116,434,761 (GRCm39) |
D567N |
possibly damaging |
Het |
| Vmn1r215 |
T |
C |
13: 23,260,089 (GRCm39) |
V43A |
possibly damaging |
Het |
| Xkr8 |
A |
G |
4: 132,455,648 (GRCm39) |
F242L |
probably benign |
Het |
| Zfp526 |
T |
A |
7: 24,925,345 (GRCm39) |
C535S |
probably 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 |
|
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 |
|
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'- CCATTGCTGTTCTGAGGCTG -3'
(R):5'- TCTCAAAACGGCATGATCCCAG -3'
Sequencing Primer
(F):5'- CTGGTGCCAGAAAGAAGCCTG -3'
(R):5'- AGGTGACAACGTCCTCTTCG -3'
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| Posted On |
2019-06-26 |
Incidental Mutation