Incidental Mutation 'R4287:Unc5c'
| ID |
322054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5c
|
| Ensembl Gene |
ENSMUSG00000059921 |
| Gene Name |
unc-5 netrin receptor C |
| Synonyms |
B130051O18Rik, Unc5h3 |
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
141171360-141540685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141420435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 52
(I52T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075282]
[ENSMUST00000106236]
[ENSMUST00000130636]
[ENSMUST00000142762]
|
| AlphaFold |
O08747 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075282
AA Change: I126T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: I126T
| 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 |
possibly damaging
Transcript: ENSMUST00000106236
AA Change: I126T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: I126T
| 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 damaging
Transcript: ENSMUST00000130636
AA Change: I52T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: I52T
| 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 |
possibly damaging
Transcript: ENSMUST00000142762
AA Change: I126T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: I126T
| 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 |
0.3926 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
A |
G |
5: 122,938,664 (GRCm39) |
V362A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,722 (GRCm39) |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,043 (GRCm39) |
Q303K |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,544,853 (GRCm39) |
Y345C |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,796,997 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,752,539 (GRCm39) |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,328,123 (GRCm39) |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,555,184 (GRCm39) |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,106,845 (GRCm39) |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,311,265 (GRCm39) |
C39R |
probably benign |
Het |
| Lce1i |
A |
G |
3: 92,684,742 (GRCm39) |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 101,914,289 (GRCm39) |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,541,130 (GRCm39) |
I107V |
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,976 (GRCm39) |
M98K |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,118,956 (GRCm39) |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,335 (GRCm39) |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,908,992 (GRCm39) |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,115,907 (GRCm39) |
T1089S |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,616,440 (GRCm39) |
S231L |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,379,057 (GRCm39) |
D838G |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,902,276 (GRCm39) |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,617,904 (GRCm39) |
H310L |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,828,268 (GRCm39) |
S363P |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 (GRCm39) |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,586,951 (GRCm39) |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 56,960,985 (GRCm39) |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,207,039 (GRCm39) |
E810G |
probably benign |
Het |
| Unc5d |
T |
A |
8: 29,209,824 (GRCm39) |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,337 (GRCm39) |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,110 (GRCm39) |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,619,088 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8277:Unc5c
|
UTSW |
3 |
141,474,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AACTGGAGCTCTTAGAAAGTGATAG -3'
(R):5'- ATGCAGAACCCTGGGTTTGG -3'
Sequencing Primer
(F):5'- CTCTTAGAAAGTGATAGGTGAGAGGC -3'
(R):5'- ATCTTGAGTTAGATCTCTGGGCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation