Incidental Mutation 'R5045:Disp2'
ID |
394300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
MMRRC Submission |
042635-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.896)
|
Stock # |
R5045 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118622543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 1092
(E1092K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037547]
[ENSMUST00000063975]
[ENSMUST00000110843]
[ENSMUST00000110846]
|
AlphaFold |
Q8CIP5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037547
AA Change: E1092K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: E1092K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
Pfam:MMPL
|
435 |
635 |
9.7e-8 |
PFAM |
Pfam:Sterol-sensing
|
458 |
611 |
9.1e-9 |
PFAM |
transmembrane domain
|
657 |
679 |
N/A |
INTRINSIC |
low complexity region
|
682 |
695 |
N/A |
INTRINSIC |
low complexity region
|
748 |
761 |
N/A |
INTRINSIC |
transmembrane domain
|
914 |
936 |
N/A |
INTRINSIC |
transmembrane domain
|
943 |
965 |
N/A |
INTRINSIC |
transmembrane domain
|
975 |
997 |
N/A |
INTRINSIC |
transmembrane domain
|
1018 |
1040 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063975
|
SMART Domains |
Protein: ENSMUSP00000070031 Gene: ENSMUSG00000040035
Domain | Start | End | E-Value | Type |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110843
|
SMART Domains |
Protein: ENSMUSP00000106467 Gene: ENSMUSG00000040035
Domain | Start | End | E-Value | Type |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110846
|
SMART Domains |
Protein: ENSMUSP00000106470 Gene: ENSMUSG00000040035
Domain | Start | End | E-Value | Type |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142072
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. [provided by RefSeq, Sep 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
T |
C |
3: 36,530,327 (GRCm39) |
|
probably benign |
Het |
2210408I21Rik |
A |
G |
13: 77,415,927 (GRCm39) |
|
probably null |
Het |
4930519P11Rik |
A |
T |
2: 154,454,950 (GRCm39) |
C136* |
probably null |
Het |
4930519P11Rik |
G |
T |
2: 154,454,982 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,113,860 (GRCm39) |
H1189L |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 103,039,743 (GRCm39) |
I227V |
possibly damaging |
Het |
Arhgap29 |
C |
A |
3: 121,796,244 (GRCm39) |
N445K |
probably benign |
Het |
Atp13a3 |
T |
C |
16: 30,158,694 (GRCm39) |
H811R |
probably benign |
Het |
Cd2ap |
T |
C |
17: 43,118,851 (GRCm39) |
N529S |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,026,080 (GRCm39) |
S439T |
probably benign |
Het |
Ces3a |
G |
T |
8: 105,777,248 (GRCm39) |
|
probably null |
Het |
Cftr |
T |
A |
6: 18,230,080 (GRCm39) |
N408K |
probably benign |
Het |
Chil5 |
T |
C |
3: 105,931,456 (GRCm39) |
N136S |
possibly damaging |
Het |
Col20a1 |
A |
G |
2: 180,648,638 (GRCm39) |
D933G |
probably damaging |
Het |
Crh |
A |
T |
3: 19,748,153 (GRCm39) |
L163* |
probably null |
Het |
Ctps1 |
A |
C |
4: 120,410,075 (GRCm39) |
|
probably null |
Het |
Cyb5d2 |
A |
G |
11: 72,686,401 (GRCm39) |
V63A |
probably damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,275,272 (GRCm39) |
|
probably null |
Het |
Dclk3 |
A |
T |
9: 111,296,856 (GRCm39) |
E133D |
probably damaging |
Het |
Dhrs9 |
A |
G |
2: 69,223,339 (GRCm39) |
D29G |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,652,665 (GRCm39) |
I764T |
probably damaging |
Het |
Epm2aip1 |
C |
A |
9: 111,102,427 (GRCm39) |
R467S |
possibly damaging |
Het |
Fam20a |
T |
C |
11: 109,568,711 (GRCm39) |
I272V |
probably benign |
Het |
Fgb |
T |
C |
3: 82,950,680 (GRCm39) |
Y358C |
probably damaging |
Het |
Gm11596 |
A |
T |
11: 99,683,695 (GRCm39) |
S142T |
unknown |
Het |
Golga4 |
A |
G |
9: 118,394,724 (GRCm39) |
T9A |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,299,093 (GRCm39) |
P2813L |
probably damaging |
Het |
Ighv1-9 |
C |
T |
12: 114,547,440 (GRCm39) |
G34R |
probably damaging |
Het |
Kalrn |
A |
C |
16: 34,134,722 (GRCm39) |
Y353* |
probably null |
Het |
Klrk1 |
T |
C |
6: 129,594,466 (GRCm39) |
Y42C |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mbtd1 |
T |
C |
11: 93,822,641 (GRCm39) |
Y484H |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,309,633 (GRCm39) |
R273G |
possibly damaging |
Het |
Myh11 |
A |
T |
16: 14,057,391 (GRCm39) |
L308* |
probably null |
Het |
Nacc2 |
G |
A |
2: 25,980,150 (GRCm39) |
|
probably null |
Het |
Nadsyn1 |
A |
G |
7: 143,360,706 (GRCm39) |
L354P |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,110,172 (GRCm39) |
Q354L |
probably benign |
Het |
Or10ag58 |
A |
T |
2: 87,265,490 (GRCm39) |
I220L |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,664 (GRCm39) |
G308E |
probably benign |
Het |
Phactr3 |
T |
C |
2: 177,973,412 (GRCm39) |
I470T |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,349,787 (GRCm39) |
P211S |
unknown |
Het |
Potefam1 |
T |
A |
2: 111,023,804 (GRCm39) |
Q110L |
unknown |
Het |
Prickle2 |
T |
C |
6: 92,353,375 (GRCm39) |
D753G |
probably damaging |
Het |
Prr12 |
A |
G |
7: 44,699,318 (GRCm39) |
|
probably benign |
Het |
Psd3 |
T |
C |
8: 68,166,477 (GRCm39) |
E917G |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,697,268 (GRCm39) |
K551* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,302,740 (GRCm39) |
L1033P |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,570,618 (GRCm39) |
Q378L |
possibly damaging |
Het |
Tdpoz8 |
G |
T |
3: 92,981,524 (GRCm39) |
D181Y |
probably damaging |
Het |
Tespa1 |
A |
T |
10: 130,197,904 (GRCm39) |
K309* |
probably null |
Het |
Trim69 |
A |
G |
2: 122,004,727 (GRCm39) |
T275A |
probably benign |
Het |
Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
Ugt2a2 |
A |
T |
5: 87,622,751 (GRCm39) |
F72L |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,695,496 (GRCm39) |
D305E |
possibly damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,273,597 (GRCm39) |
I804V |
probably benign |
Het |
Zfy2 |
T |
C |
Y: 2,107,159 (GRCm39) |
K492E |
possibly damaging |
Het |
Zkscan1 |
A |
G |
5: 138,099,182 (GRCm39) |
H375R |
probably damaging |
Het |
|
Other mutations in Disp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00790:Disp2
|
APN |
2 |
118,616,759 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00970:Disp2
|
APN |
2 |
118,622,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01790:Disp2
|
APN |
2 |
118,621,361 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01809:Disp2
|
APN |
2 |
118,617,745 (GRCm39) |
splice site |
probably benign |
|
IGL02069:Disp2
|
APN |
2 |
118,621,161 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02140:Disp2
|
APN |
2 |
118,621,350 (GRCm39) |
missense |
probably benign |
|
IGL02143:Disp2
|
APN |
2 |
118,620,450 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02155:Disp2
|
APN |
2 |
118,622,285 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02884:Disp2
|
APN |
2 |
118,618,032 (GRCm39) |
splice site |
probably benign |
|
IGL03113:Disp2
|
APN |
2 |
118,621,259 (GRCm39) |
splice site |
probably null |
|
IGL03194:Disp2
|
APN |
2 |
118,618,110 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Disp2
|
UTSW |
2 |
118,618,125 (GRCm39) |
missense |
probably benign |
0.01 |
R0109:Disp2
|
UTSW |
2 |
118,622,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R0126:Disp2
|
UTSW |
2 |
118,620,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R0603:Disp2
|
UTSW |
2 |
118,622,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R0610:Disp2
|
UTSW |
2 |
118,622,717 (GRCm39) |
missense |
probably benign |
0.02 |
R0639:Disp2
|
UTSW |
2 |
118,621,325 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0673:Disp2
|
UTSW |
2 |
118,621,325 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0755:Disp2
|
UTSW |
2 |
118,620,243 (GRCm39) |
missense |
probably benign |
0.00 |
R0781:Disp2
|
UTSW |
2 |
118,620,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R1110:Disp2
|
UTSW |
2 |
118,620,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Disp2
|
UTSW |
2 |
118,636,899 (GRCm39) |
critical splice donor site |
probably null |
|
R1148:Disp2
|
UTSW |
2 |
118,636,899 (GRCm39) |
critical splice donor site |
probably null |
|
R1243:Disp2
|
UTSW |
2 |
118,622,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R1587:Disp2
|
UTSW |
2 |
118,622,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Disp2
|
UTSW |
2 |
118,622,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R1771:Disp2
|
UTSW |
2 |
118,621,778 (GRCm39) |
nonsense |
probably null |
|
R1781:Disp2
|
UTSW |
2 |
118,623,042 (GRCm39) |
missense |
probably damaging |
0.96 |
R1918:Disp2
|
UTSW |
2 |
118,622,408 (GRCm39) |
missense |
probably benign |
|
R1956:Disp2
|
UTSW |
2 |
118,622,704 (GRCm39) |
missense |
probably benign |
0.02 |
R2167:Disp2
|
UTSW |
2 |
118,622,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:Disp2
|
UTSW |
2 |
118,622,725 (GRCm39) |
missense |
probably benign |
0.02 |
R4031:Disp2
|
UTSW |
2 |
118,622,361 (GRCm39) |
missense |
probably benign |
0.27 |
R4617:Disp2
|
UTSW |
2 |
118,620,643 (GRCm39) |
missense |
probably benign |
|
R4656:Disp2
|
UTSW |
2 |
118,621,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Disp2
|
UTSW |
2 |
118,623,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R4696:Disp2
|
UTSW |
2 |
118,622,165 (GRCm39) |
nonsense |
probably null |
|
R4697:Disp2
|
UTSW |
2 |
118,622,165 (GRCm39) |
nonsense |
probably null |
|
R4738:Disp2
|
UTSW |
2 |
118,620,807 (GRCm39) |
missense |
probably damaging |
0.97 |
R4834:Disp2
|
UTSW |
2 |
118,622,985 (GRCm39) |
missense |
probably benign |
0.09 |
R4914:Disp2
|
UTSW |
2 |
118,620,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R4915:Disp2
|
UTSW |
2 |
118,620,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R4918:Disp2
|
UTSW |
2 |
118,620,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R5208:Disp2
|
UTSW |
2 |
118,622,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R5303:Disp2
|
UTSW |
2 |
118,641,329 (GRCm39) |
unclassified |
probably benign |
|
R5350:Disp2
|
UTSW |
2 |
118,618,056 (GRCm39) |
missense |
probably benign |
0.23 |
R5355:Disp2
|
UTSW |
2 |
118,617,392 (GRCm39) |
missense |
probably benign |
0.00 |
R6011:Disp2
|
UTSW |
2 |
118,621,301 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6031:Disp2
|
UTSW |
2 |
118,620,275 (GRCm39) |
missense |
probably benign |
0.01 |
R6031:Disp2
|
UTSW |
2 |
118,620,275 (GRCm39) |
missense |
probably benign |
0.01 |
R6139:Disp2
|
UTSW |
2 |
118,621,143 (GRCm39) |
missense |
probably damaging |
0.97 |
R6169:Disp2
|
UTSW |
2 |
118,622,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Disp2
|
UTSW |
2 |
118,622,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R6209:Disp2
|
UTSW |
2 |
118,617,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R6250:Disp2
|
UTSW |
2 |
118,621,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R6392:Disp2
|
UTSW |
2 |
118,621,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Disp2
|
UTSW |
2 |
118,617,361 (GRCm39) |
missense |
probably benign |
|
R7156:Disp2
|
UTSW |
2 |
118,622,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7230:Disp2
|
UTSW |
2 |
118,622,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R7400:Disp2
|
UTSW |
2 |
118,622,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R7460:Disp2
|
UTSW |
2 |
118,620,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R7505:Disp2
|
UTSW |
2 |
118,621,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7542:Disp2
|
UTSW |
2 |
118,621,599 (GRCm39) |
missense |
probably damaging |
0.97 |
R7728:Disp2
|
UTSW |
2 |
118,621,961 (GRCm39) |
missense |
probably benign |
0.31 |
R7757:Disp2
|
UTSW |
2 |
118,621,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Disp2
|
UTSW |
2 |
118,622,360 (GRCm39) |
missense |
probably benign |
|
R7945:Disp2
|
UTSW |
2 |
118,623,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R8013:Disp2
|
UTSW |
2 |
118,620,163 (GRCm39) |
nonsense |
probably null |
|
R8085:Disp2
|
UTSW |
2 |
118,617,452 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8179:Disp2
|
UTSW |
2 |
118,623,030 (GRCm39) |
missense |
probably damaging |
0.99 |
R8288:Disp2
|
UTSW |
2 |
118,620,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R8345:Disp2
|
UTSW |
2 |
118,641,284 (GRCm39) |
missense |
unknown |
|
R8385:Disp2
|
UTSW |
2 |
118,620,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R8700:Disp2
|
UTSW |
2 |
118,620,340 (GRCm39) |
nonsense |
probably null |
|
R8808:Disp2
|
UTSW |
2 |
118,620,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:Disp2
|
UTSW |
2 |
118,621,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Disp2
|
UTSW |
2 |
118,617,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R9022:Disp2
|
UTSW |
2 |
118,621,179 (GRCm39) |
missense |
probably benign |
0.22 |
R9181:Disp2
|
UTSW |
2 |
118,617,393 (GRCm39) |
missense |
probably benign |
0.08 |
R9660:Disp2
|
UTSW |
2 |
118,620,627 (GRCm39) |
missense |
probably benign |
|
Z1177:Disp2
|
UTSW |
2 |
118,621,308 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Disp2
|
UTSW |
2 |
118,620,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTACGTCAGATCAGCCGG -3'
(R):5'- GCCATCATGTATCTGCAGGTC -3'
Sequencing Primer
(F):5'- CTCTGGTGTGATCATGCTGCC -3'
(R):5'- CATCATGTATCTGCAGGTCTTCAGAG -3'
|
Posted On |
2016-06-15 |