Incidental Mutation 'R7032:Unc5b'
| ID |
546397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5b
|
| Ensembl Gene |
ENSMUSG00000020099 |
| Gene Name |
unc-5 netrin receptor B |
| Synonyms |
Unc5h2, 6330415E02Rik, D10Bwg0792e |
| MMRRC Submission |
045133-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
60598373-60667360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 60614587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 237
(T237P)
|
| 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 damaging
Transcript: ENSMUST00000077925
AA Change: T237P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: T237P
| 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 damaging
Transcript: ENSMUST00000218637
AA Change: T237P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1433 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (67/67) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,438 (GRCm39) |
D398E |
possibly damaging |
Het |
| Adam34 |
T |
C |
8: 44,105,303 (GRCm39) |
Y114C |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,004,896 (GRCm39) |
D156E |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,889,825 (GRCm39) |
S408T |
probably benign |
Het |
| Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,627,181 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
T |
A |
8: 69,541,548 (GRCm39) |
V35E |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,255,289 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
C |
A |
10: 4,432,597 (GRCm39) |
P12Q |
unknown |
Het |
| Cdh23 |
C |
T |
10: 60,167,567 (GRCm39) |
E1810K |
probably damaging |
Het |
| Cdo1 |
A |
T |
18: 46,853,475 (GRCm39) |
F94L |
probably damaging |
Het |
| Cfap96 |
T |
G |
8: 46,409,474 (GRCm39) |
S282R |
probably damaging |
Het |
| Chdh |
C |
T |
14: 29,758,809 (GRCm39) |
P585S |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,683,391 (GRCm39) |
N407S |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,453,329 (GRCm39) |
S465C |
probably benign |
Het |
| Clip2 |
C |
A |
5: 134,551,484 (GRCm39) |
V213L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,644,707 (GRCm39) |
S1194P |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,268,463 (GRCm39) |
T421A |
possibly damaging |
Het |
| Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,796 (GRCm39) |
N2002D |
probably damaging |
Het |
| Epn2 |
T |
A |
11: 61,437,528 (GRCm39) |
N15Y |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,936,147 (GRCm39) |
V647G |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,353,424 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
G |
13: 49,102,589 (GRCm39) |
V222A |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,457,864 (GRCm39) |
I242K |
possibly damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,319 (GRCm39) |
M131T |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,744,283 (GRCm39) |
N2100S |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,855,916 (GRCm39) |
D38V |
possibly damaging |
Het |
| Klhl9 |
G |
A |
4: 88,639,843 (GRCm39) |
Q133* |
probably null |
Het |
| Krt84 |
T |
C |
15: 101,436,924 (GRCm39) |
E370G |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,410 (GRCm39) |
I12T |
probably benign |
Het |
| Lrriq4 |
T |
A |
3: 30,709,850 (GRCm39) |
L398* |
probably null |
Het |
| Ltf |
G |
A |
9: 110,855,198 (GRCm39) |
|
probably null |
Het |
| Macf1 |
C |
T |
4: 123,366,101 (GRCm39) |
V1322I |
probably benign |
Het |
| Mark2 |
T |
A |
19: 7,264,698 (GRCm39) |
I112L |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,831,649 (GRCm39) |
|
probably null |
Het |
| Mterf2 |
A |
T |
10: 84,956,527 (GRCm39) |
C32* |
probably null |
Het |
| Myo3b |
C |
T |
2: 69,925,608 (GRCm39) |
T25I |
probably damaging |
Het |
| Nsun7 |
A |
C |
5: 66,421,378 (GRCm39) |
I115L |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,883,805 (GRCm39) |
V36M |
probably damaging |
Het |
| Or1p1c |
T |
C |
11: 74,160,428 (GRCm39) |
I71T |
possibly damaging |
Het |
| Or5d44 |
T |
C |
2: 88,141,373 (GRCm39) |
T256A |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,965 (GRCm39) |
Y262F |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,983 (GRCm39) |
S246T |
possibly damaging |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,962 (GRCm39) |
R677S |
probably benign |
Het |
| Prrt4 |
A |
C |
6: 29,170,538 (GRCm39) |
L638R |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rab44 |
T |
C |
17: 29,359,438 (GRCm39) |
F542S |
unknown |
Het |
| Rhobtb3 |
T |
A |
13: 76,020,513 (GRCm39) |
E596D |
probably benign |
Het |
| Rpl36 |
T |
C |
17: 56,920,944 (GRCm39) |
I44T |
probably benign |
Het |
| Rptor |
A |
G |
11: 119,737,762 (GRCm39) |
I112V |
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,993,813 (GRCm39) |
I611T |
probably damaging |
Het |
| Slc12a4 |
G |
T |
8: 106,675,865 (GRCm39) |
N553K |
probably damaging |
Het |
| Spata31d1d |
T |
A |
13: 59,876,046 (GRCm39) |
R496S |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,125 (GRCm39) |
D387G |
possibly damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,153 (GRCm39) |
C299S |
possibly damaging |
Het |
| Tbc1d21 |
A |
T |
9: 58,274,134 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
A |
T |
7: 35,180,471 (GRCm39) |
Y847* |
probably null |
Het |
| Tlr2 |
A |
T |
3: 83,745,212 (GRCm39) |
N290K |
probably benign |
Het |
| Tmppe |
A |
G |
9: 114,234,858 (GRCm39) |
T386A |
probably damaging |
Het |
| Tnks1bp1 |
C |
A |
2: 84,892,297 (GRCm39) |
H741Q |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,609,951 (GRCm39) |
V140M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,932 (GRCm39) |
D13427G |
probably damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,371 (GRCm39) |
L106I |
possibly damaging |
Het |
| Vit |
A |
C |
17: 78,932,294 (GRCm39) |
D467A |
probably damaging |
Het |
| Vmn1r103 |
T |
C |
7: 20,243,780 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,776,017 (GRCm39) |
Y196* |
probably null |
Het |
| Zhx3 |
A |
G |
2: 160,622,898 (GRCm39) |
V423A |
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 |
|
|
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'- GGTAGAGGGGTAACACCTAACC -3'
(R):5'- TCCATCTTACAGTTGGCAGAC -3'
Sequencing Primer
(F):5'- TCACCCAGAGTGTGGCTG -3'
(R):5'- CCATCTTACAGTTGGCAGACAATGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation