Incidental Mutation 'R5721:Dvl2'
| ID |
451451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dvl2
|
| Ensembl Gene |
ENSMUSG00000020888 |
| Gene Name |
dishevelled segment polarity protein 2 |
| Synonyms |
|
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69891418-69900935 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69896819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 238
(R238G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018718]
[ENSMUST00000019362]
[ENSMUST00000102574]
[ENSMUST00000102575]
[ENSMUST00000190940]
|
| AlphaFold |
Q60838 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018718
|
| SMART Domains |
Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
74 |
188 |
4.4e-22 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
192 |
245 |
5.1e-20 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
306 |
455 |
6.7e-41 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
321 |
445 |
2.8e-12 |
PFAM |
|
Blast:HisKA
|
460 |
557 |
6e-10 |
BLAST |
|
low complexity region
|
558 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019362
AA Change: R238G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: R238G
| 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: ENSMUST00000102574
|
| SMART Domains |
Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
96 |
210 |
2.5e-25 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
214 |
316 |
5.5e-25 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
328 |
477 |
2.5e-41 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
343 |
467 |
8.7e-14 |
PFAM |
|
Blast:HisKA
|
482 |
579 |
7e-10 |
BLAST |
|
low complexity region
|
580 |
591 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102575
AA Change: R238G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: R238G
| 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: ENSMUST00000134516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135422
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190940
AA Change: R238G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: R238G
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
probably damaging |
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 |
|
IGL02071:Dvl2
|
APN |
11 |
69,895,626 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGATGAGGATGACACCATG -3'
(R):5'- CATTGTGGAATCGGTGACAC -3'
Sequencing Primer
(F):5'- AGTAGGTATGGCTGCACACTTCC -3'
(R):5'- CACTGCTGAAGGATGAGGTCTAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation