Incidental Mutation 'IGL02071:Dvl2'
| ID |
185839 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dvl2
|
| Ensembl Gene |
ENSMUSG00000020888 |
| Gene Name |
dishevelled segment polarity protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
IGL02071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69891418-69900935 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 69895626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018716]
[ENSMUST00000019362]
[ENSMUST00000101526]
[ENSMUST00000102575]
[ENSMUST00000135814]
[ENSMUST00000190940]
[ENSMUST00000153684]
|
| AlphaFold |
Q60838 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018716
|
| SMART Domains |
Protein: ENSMUSP00000018716
Gene: ENSMUSG00000018572
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
286 |
N/A |
INTRINSIC |
|
PHD
|
339 |
383 |
1.2e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000019362
|
| SMART Domains |
Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
11 |
93 |
2.31e-56 |
SMART |
|
Pfam:Dishevelled
|
103 |
263 |
1.5e-60 |
PFAM |
|
PDZ
|
276 |
355 |
1.65e-15 |
SMART |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
DEP
|
433 |
507 |
6.6e-29 |
SMART |
|
Pfam:Dsh_C
|
515 |
726 |
1.1e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101526
|
| SMART Domains |
Protein: ENSMUSP00000099064
Gene: ENSMUSG00000018572
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
219 |
N/A |
INTRINSIC |
|
PHD
|
272 |
316 |
1.2e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102575
|
| SMART Domains |
Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
11 |
93 |
2.31e-56 |
SMART |
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
Pfam:Dishevelled
|
160 |
232 |
8.1e-27 |
PFAM |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
PDZ
|
276 |
355 |
1.65e-15 |
SMART |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
DEP
|
433 |
507 |
6.6e-29 |
SMART |
|
Pfam:Dsh_C
|
515 |
726 |
1.3e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135814
|
| SMART Domains |
Protein: ENSMUSP00000120665
Gene: ENSMUSG00000018572
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
156 |
N/A |
INTRINSIC |
|
PHD
|
209 |
253 |
1.2e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190940
|
| SMART Domains |
Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
11 |
93 |
2.31e-56 |
SMART |
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
Pfam:Dishevelled
|
160 |
232 |
8.1e-27 |
PFAM |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
PDZ
|
276 |
355 |
1.65e-15 |
SMART |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
DEP
|
433 |
507 |
6.6e-29 |
SMART |
|
Pfam:Dsh_C
|
515 |
726 |
1.3e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152732
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153684
|
| SMART Domains |
Protein: ENSMUSP00000121780
Gene: ENSMUSG00000018572
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
156 |
N/A |
INTRINSIC |
|
PHD
|
209 |
253 |
1.2e-7 |
SMART |
|
| Coding Region Coverage |
|
| 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 dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice show incomplete penetrance of perinatal lethality with surviving mice being predominantly female. Defects include cardiovascular outflow and neural tube abnormalities, malformations of vertebrae and ribs, and irregular somite segmentation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,400,676 (GRCm39) |
R92C |
probably damaging |
Het |
| Adam29 |
C |
A |
8: 56,324,589 (GRCm39) |
V622L |
possibly damaging |
Het |
| Bzw2 |
T |
C |
12: 36,157,502 (GRCm39) |
H321R |
probably benign |
Het |
| C2cd2 |
C |
T |
16: 97,671,432 (GRCm39) |
R489Q |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,359,339 (GRCm39) |
T253I |
possibly damaging |
Het |
| Col4a3 |
T |
G |
1: 82,638,608 (GRCm39) |
|
probably null |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,309 (GRCm39) |
T168A |
possibly damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,132,914 (GRCm39) |
L97P |
possibly damaging |
Het |
| Dpep2 |
A |
T |
8: 106,711,776 (GRCm39) |
H550Q |
probably benign |
Het |
| Fam234b |
A |
G |
6: 135,204,149 (GRCm39) |
|
probably null |
Het |
| Fxyd5 |
A |
G |
7: 30,739,613 (GRCm39) |
V32A |
possibly damaging |
Het |
| Itprid1 |
C |
A |
6: 55,944,710 (GRCm39) |
S477* |
probably null |
Het |
| Mak16 |
A |
T |
8: 31,650,557 (GRCm39) |
S251T |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,747 (GRCm39) |
V116A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,392,343 (GRCm39) |
R50* |
probably null |
Het |
| Nckap5 |
G |
A |
1: 125,909,305 (GRCm39) |
P272L |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,334,947 (GRCm39) |
V933E |
possibly damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,531,783 (GRCm39) |
V749E |
probably damaging |
Het |
| Or51e2 |
A |
C |
7: 102,391,355 (GRCm39) |
V285G |
probably damaging |
Het |
| Or5al1 |
C |
A |
2: 85,990,219 (GRCm39) |
R165L |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,929,176 (GRCm39) |
Y417C |
probably damaging |
Het |
| Otop1 |
G |
A |
5: 38,445,327 (GRCm39) |
A162T |
probably damaging |
Het |
| Patl1 |
C |
A |
19: 11,917,054 (GRCm39) |
P634T |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,930,936 (GRCm39) |
S28T |
probably benign |
Het |
| Prkar2b |
C |
T |
12: 32,013,016 (GRCm39) |
G367R |
probably damaging |
Het |
| Rbl2 |
G |
A |
8: 91,828,826 (GRCm39) |
V576I |
probably damaging |
Het |
| Rgl3 |
C |
T |
9: 21,899,559 (GRCm39) |
A53T |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,415,533 (GRCm39) |
I1860F |
possibly damaging |
Het |
| Sbno2 |
A |
T |
10: 79,896,475 (GRCm39) |
D877E |
probably damaging |
Het |
| Sectm1b |
C |
T |
11: 120,946,761 (GRCm39) |
V45I |
probably damaging |
Het |
| Sfmbt2 |
G |
A |
2: 10,582,763 (GRCm39) |
V741I |
probably benign |
Het |
| Sugt1 |
T |
A |
14: 79,847,723 (GRCm39) |
L191* |
probably null |
Het |
| Tcf21 |
A |
T |
10: 22,693,709 (GRCm39) |
V156E |
possibly damaging |
Het |
| Tep1 |
T |
A |
14: 51,071,506 (GRCm39) |
R2046S |
possibly damaging |
Het |
| Tmem181a |
T |
C |
17: 6,347,531 (GRCm39) |
F241S |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,527,138 (GRCm39) |
C296Y |
probably benign |
Het |
| Trim40 |
A |
G |
17: 37,200,070 (GRCm39) |
S3P |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,619,130 (GRCm39) |
Y266N |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,225,071 (GRCm39) |
N177S |
probably null |
Het |
|
| Other mutations in Dvl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Dvl2
|
APN |
11 |
69,900,410 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01465:Dvl2
|
APN |
11 |
69,897,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01920:Dvl2
|
APN |
11 |
69,898,873 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01985:Dvl2
|
APN |
11 |
69,899,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02110:Dvl2
|
APN |
11 |
69,898,842 (GRCm39) |
splice site |
probably benign |
|
|
IGL03132:Dvl2
|
APN |
11 |
69,896,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0076:Dvl2
|
UTSW |
11 |
69,898,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0076:Dvl2
|
UTSW |
11 |
69,898,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0331:Dvl2
|
UTSW |
11 |
69,897,043 (GRCm39) |
splice site |
probably benign |
|
|
R0335:Dvl2
|
UTSW |
11 |
69,891,861 (GRCm39) |
splice site |
probably benign |
|
|
R1187:Dvl2
|
UTSW |
11 |
69,896,962 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1552:Dvl2
|
UTSW |
11 |
69,897,198 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1726:Dvl2
|
UTSW |
11 |
69,900,287 (GRCm39) |
missense |
probably benign |
|
|
R3103:Dvl2
|
UTSW |
11 |
69,899,695 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4688:Dvl2
|
UTSW |
11 |
69,898,344 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4812:Dvl2
|
UTSW |
11 |
69,902,119 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5319:Dvl2
|
UTSW |
11 |
69,898,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5521:Dvl2
|
UTSW |
11 |
69,897,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5647:Dvl2
|
UTSW |
11 |
69,900,275 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5721:Dvl2
|
UTSW |
11 |
69,896,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6053:Dvl2
|
UTSW |
11 |
69,896,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6812:Dvl2
|
UTSW |
11 |
69,891,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6818:Dvl2
|
UTSW |
11 |
69,900,099 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7843:Dvl2
|
UTSW |
11 |
69,899,612 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8079:Dvl2
|
UTSW |
11 |
69,898,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8398:Dvl2
|
UTSW |
11 |
69,899,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Dvl2
|
UTSW |
11 |
69,898,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Dvl2
|
UTSW |
11 |
69,898,761 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9336:Dvl2
|
UTSW |
11 |
69,897,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Dvl2
|
UTSW |
11 |
69,899,976 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2014-05-07 |
Incidental Mutation