Incidental Mutation 'R0781:Disp2'
| ID |
76609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp2
|
| Ensembl Gene |
ENSMUSG00000040035 |
| Gene Name |
dispatched RND transporter family member 2 |
| Synonyms |
B230210L08Rik, DispB |
| MMRRC Submission |
038961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R0781 (G1)
|
| Quality Score |
163 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118620920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 551
(S551P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037547]
[ENSMUST00000063975]
[ENSMUST00000110843]
[ENSMUST00000110846]
|
| AlphaFold |
Q8CIP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037547
AA Change: S551P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: S551P
| 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
|
| Meta Mutation Damage Score |
0.4463 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.2%
|
| Validation Efficiency |
97% (67/69) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
T |
17: 79,935,180 (GRCm39) |
A98S |
probably benign |
Het |
| Acp2 |
A |
G |
2: 91,038,767 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
G |
7: 75,261,125 (GRCm39) |
S447A |
possibly damaging |
Het |
| Alk |
G |
A |
17: 72,291,740 (GRCm39) |
|
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,517,767 (GRCm39) |
|
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,496,834 (GRCm39) |
T327A |
probably benign |
Het |
| Calhm5 |
T |
G |
10: 33,972,013 (GRCm39) |
I141L |
probably benign |
Het |
| Cdan1 |
G |
A |
2: 120,551,083 (GRCm39) |
A1103V |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,074,895 (GRCm39) |
Y3* |
probably null |
Het |
| Cdon |
T |
C |
9: 35,367,733 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,222,119 (GRCm39) |
N460I |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,050,639 (GRCm39) |
C985S |
possibly damaging |
Het |
| Col6a2 |
T |
C |
10: 76,443,574 (GRCm39) |
E497G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,089 (GRCm39) |
M673T |
possibly damaging |
Het |
| Csmd1 |
A |
C |
8: 15,971,174 (GRCm39) |
I3047S |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,258 (GRCm39) |
I441T |
possibly damaging |
Het |
| Dstyk |
A |
G |
1: 132,381,063 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,868,557 (GRCm39) |
S1457G |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,718,838 (GRCm39) |
C613Y |
probably damaging |
Het |
| Gdf7 |
C |
A |
12: 8,351,555 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul2 |
A |
G |
19: 8,804,110 (GRCm39) |
R570G |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,320 (GRCm39) |
C588S |
probably damaging |
Het |
| Iqcf4 |
T |
C |
9: 106,445,860 (GRCm39) |
I96V |
probably benign |
Het |
| Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
| Itpr3 |
C |
T |
17: 27,329,529 (GRCm39) |
H1518Y |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 910,539 (GRCm39) |
L250H |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,937,965 (GRCm39) |
|
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,444,427 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,999 (GRCm39) |
D93G |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,253,440 (GRCm39) |
|
probably benign |
Het |
| Nudt7 |
G |
A |
8: 114,862,111 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,563,563 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
G |
A |
10: 59,264,016 (GRCm39) |
R373C |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,849,765 (GRCm39) |
I494L |
probably damaging |
Het |
| Opa3 |
A |
G |
7: 18,962,524 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
A |
G |
7: 102,392,214 (GRCm39) |
|
probably benign |
Het |
| Or5ac15 |
A |
T |
16: 58,940,187 (GRCm39) |
V82D |
probably damaging |
Het |
| Or9r7 |
A |
G |
10: 129,962,522 (GRCm39) |
Y135H |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
G |
T |
9: 59,556,847 (GRCm39) |
C584F |
probably damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,582,676 (GRCm39) |
|
probably benign |
Het |
| Pde3a |
T |
C |
6: 141,405,042 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,608,280 (GRCm39) |
D335G |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,187,708 (GRCm39) |
N3533K |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,169,109 (GRCm39) |
L752P |
probably damaging |
Het |
| Plcb3 |
C |
A |
19: 6,939,281 (GRCm39) |
E566* |
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,392,689 (GRCm39) |
K261R |
probably benign |
Het |
| Prdm14 |
A |
G |
1: 13,184,585 (GRCm39) |
S529P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,102,586 (GRCm39) |
S2582P |
probably benign |
Het |
| Sardh |
G |
A |
2: 27,081,931 (GRCm39) |
T865I |
possibly damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,515,812 (GRCm39) |
I571F |
possibly damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,342,864 (GRCm39) |
M232K |
probably benign |
Het |
| Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
| Spata31e3 |
A |
T |
13: 50,402,296 (GRCm39) |
D83E |
possibly damaging |
Het |
| Ss18l1 |
G |
A |
2: 179,697,647 (GRCm39) |
S177N |
possibly damaging |
Het |
| Svs5 |
A |
T |
2: 164,175,507 (GRCm39) |
I120L |
probably benign |
Het |
| Tcl1b1 |
G |
T |
12: 105,126,074 (GRCm39) |
V19F |
probably damaging |
Het |
| Tmem108 |
C |
T |
9: 103,361,889 (GRCm39) |
V566M |
probably damaging |
Het |
| Trmu |
C |
A |
15: 85,763,604 (GRCm39) |
C9* |
probably null |
Het |
| Vnn1 |
A |
T |
10: 23,775,499 (GRCm39) |
I250F |
possibly damaging |
Het |
| Vps13c |
T |
A |
9: 67,879,285 (GRCm39) |
Y3409N |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,873,322 (GRCm39) |
N695K |
probably benign |
Het |
| Zfp84 |
T |
A |
7: 29,470,797 (GRCm39) |
M1K |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,326,841 (GRCm39) |
R761C |
probably damaging |
Het |
| Zp3r |
A |
G |
1: 130,505,621 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R5045:Disp2
|
UTSW |
2 |
118,622,543 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GCCGAAGACACCATGTATCCCTTG -3'
(R):5'- GAACCAGCAGATCCAGATGTACCG -3'
Sequencing Primer
(F):5'- GACACCATGTATCCCTTGATAGC -3'
(R):5'- ATCCGTCTGTGCAACGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation