Incidental Mutation 'R8277:Unc5c'
| ID |
638018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5c
|
| Ensembl Gene |
ENSMUSG00000059921 |
| Gene Name |
unc-5 netrin receptor C |
| Synonyms |
B130051O18Rik, Unc5h3 |
| MMRRC Submission |
067700-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
141171360-141540685 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 141474373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075282]
[ENSMUST00000106236]
[ENSMUST00000130636]
[ENSMUST00000142762]
|
| AlphaFold |
O08747 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075282
|
| SMART Domains |
Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
SCOP:d2fcba2
|
64 |
164 |
9e-3 |
SMART |
|
IGc2
|
179 |
246 |
2.72e-5 |
SMART |
|
TSP1
|
263 |
314 |
8.54e-13 |
SMART |
|
TSP1
|
319 |
368 |
1.18e-6 |
SMART |
|
transmembrane domain
|
396 |
418 |
N/A |
INTRINSIC |
|
ZU5
|
547 |
650 |
6.92e-63 |
SMART |
|
low complexity region
|
695 |
704 |
N/A |
INTRINSIC |
|
DEATH
|
857 |
948 |
6.68e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106236
|
| SMART Domains |
Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
SCOP:d2fcba2
|
64 |
164 |
9e-3 |
SMART |
|
IGc2
|
179 |
246 |
2.72e-5 |
SMART |
|
TSP1
|
263 |
314 |
8.54e-13 |
SMART |
|
TSP1
|
319 |
368 |
1.18e-6 |
SMART |
|
transmembrane domain
|
377 |
399 |
N/A |
INTRINSIC |
|
ZU5
|
528 |
631 |
6.92e-63 |
SMART |
|
low complexity region
|
676 |
685 |
N/A |
INTRINSIC |
|
DEATH
|
838 |
929 |
6.68e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130636
|
| SMART Domains |
Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
IGc2
|
105 |
172 |
2.72e-5 |
SMART |
|
TSP1
|
189 |
240 |
8.54e-13 |
SMART |
|
TSP1
|
245 |
294 |
1.18e-6 |
SMART |
|
transmembrane domain
|
322 |
344 |
N/A |
INTRINSIC |
|
ZU5
|
473 |
576 |
6.92e-63 |
SMART |
|
low complexity region
|
621 |
630 |
N/A |
INTRINSIC |
|
DEATH
|
783 |
874 |
6.68e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142762
|
| SMART Domains |
Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
SCOP:d2fcba2
|
64 |
164 |
9e-3 |
SMART |
|
IGc2
|
179 |
246 |
2.72e-5 |
SMART |
|
TSP1
|
263 |
314 |
8.54e-13 |
SMART |
|
TSP1
|
319 |
368 |
1.18e-6 |
SMART |
|
transmembrane domain
|
396 |
418 |
N/A |
INTRINSIC |
|
ZU5
|
547 |
650 |
6.92e-63 |
SMART |
|
low complexity region
|
695 |
704 |
N/A |
INTRINSIC |
|
DEATH
|
857 |
948 |
6.68e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants exhibit ataxia, and reduced size early in life. Mutants exhibit cerebellar defects including reduced size and ectopic cerebellar cells in the midbrain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
| Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
| Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
| Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
| Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
| Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
| Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
| Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
| Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
| Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
| Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
| Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
| Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Unc5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Unc5c
|
APN |
3 |
141,494,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01089:Unc5c
|
APN |
3 |
141,523,963 (GRCm39) |
splice site |
probably benign |
|
|
IGL01478:Unc5c
|
APN |
3 |
141,534,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02083:Unc5c
|
APN |
3 |
141,420,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02269:Unc5c
|
APN |
3 |
141,494,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02565:Unc5c
|
APN |
3 |
141,509,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02973:Unc5c
|
APN |
3 |
141,494,651 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0179:Unc5c
|
UTSW |
3 |
141,523,828 (GRCm39) |
nonsense |
probably null |
|
|
R0309:Unc5c
|
UTSW |
3 |
141,439,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0371:Unc5c
|
UTSW |
3 |
141,533,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0603:Unc5c
|
UTSW |
3 |
141,476,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0904:Unc5c
|
UTSW |
3 |
141,509,601 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0907:Unc5c
|
UTSW |
3 |
141,494,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1300:Unc5c
|
UTSW |
3 |
141,534,304 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1491:Unc5c
|
UTSW |
3 |
141,495,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:Unc5c
|
UTSW |
3 |
141,533,310 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1674:Unc5c
|
UTSW |
3 |
141,463,598 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1676:Unc5c
|
UTSW |
3 |
141,463,598 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1726:Unc5c
|
UTSW |
3 |
141,523,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Unc5c
|
UTSW |
3 |
141,533,278 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1815:Unc5c
|
UTSW |
3 |
141,463,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2381:Unc5c
|
UTSW |
3 |
141,383,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2394:Unc5c
|
UTSW |
3 |
141,383,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2945:Unc5c
|
UTSW |
3 |
141,495,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4284:Unc5c
|
UTSW |
3 |
141,420,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4285:Unc5c
|
UTSW |
3 |
141,420,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4287:Unc5c
|
UTSW |
3 |
141,420,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4681:Unc5c
|
UTSW |
3 |
141,474,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4736:Unc5c
|
UTSW |
3 |
141,522,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4740:Unc5c
|
UTSW |
3 |
141,522,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4774:Unc5c
|
UTSW |
3 |
141,534,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4862:Unc5c
|
UTSW |
3 |
141,495,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Unc5c
|
UTSW |
3 |
141,507,071 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4921:Unc5c
|
UTSW |
3 |
141,494,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5150:Unc5c
|
UTSW |
3 |
141,463,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5559:Unc5c
|
UTSW |
3 |
141,509,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:Unc5c
|
UTSW |
3 |
141,474,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Unc5c
|
UTSW |
3 |
141,383,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Unc5c
|
UTSW |
3 |
141,383,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Unc5c
|
UTSW |
3 |
141,534,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5912:Unc5c
|
UTSW |
3 |
141,494,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Unc5c
|
UTSW |
3 |
141,383,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6547:Unc5c
|
UTSW |
3 |
141,495,780 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6558:Unc5c
|
UTSW |
3 |
141,495,490 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7104:Unc5c
|
UTSW |
3 |
141,439,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Unc5c
|
UTSW |
3 |
141,507,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Unc5c
|
UTSW |
3 |
141,383,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7317:Unc5c
|
UTSW |
3 |
141,495,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7787:Unc5c
|
UTSW |
3 |
141,474,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Unc5c
|
UTSW |
3 |
141,533,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7896:Unc5c
|
UTSW |
3 |
141,476,922 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7936:Unc5c
|
UTSW |
3 |
141,534,238 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8041:Unc5c
|
UTSW |
3 |
141,171,545 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8669:Unc5c
|
UTSW |
3 |
141,509,704 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8886:Unc5c
|
UTSW |
3 |
141,509,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8989:Unc5c
|
UTSW |
3 |
141,509,467 (GRCm39) |
splice site |
probably benign |
|
|
R9244:Unc5c
|
UTSW |
3 |
141,533,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9444:Unc5c
|
UTSW |
3 |
141,507,209 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9508:Unc5c
|
UTSW |
3 |
141,494,736 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9524:Unc5c
|
UTSW |
3 |
141,494,683 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9633:Unc5c
|
UTSW |
3 |
141,495,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0018:Unc5c
|
UTSW |
3 |
141,420,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Unc5c
|
UTSW |
3 |
141,533,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Unc5c
|
UTSW |
3 |
141,439,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Unc5c
|
UTSW |
3 |
141,383,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACATTCCTGTATTTCTAACCCAC -3'
(R):5'- ATGGTGCTTGGCCCCTTATG -3'
Sequencing Primer
(F):5'- TGGTTTGTCTCCTCCAGTTAATG -3'
(R):5'- GCATGTTGCATGTTTAGATGATAAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation