Incidental Mutation 'R9660:Disp2'
ID |
727496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.896)
|
Stock # |
R9660 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118620627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 453
(V453A)
|
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: V453A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: V453A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,851,478 (GRCm39) |
M819V |
probably benign |
Het |
Abca5 |
T |
A |
11: 110,168,248 (GRCm39) |
T1461S |
possibly damaging |
Het |
Actl6b |
C |
T |
5: 137,562,766 (GRCm39) |
R161C |
probably damaging |
Het |
Aoc3 |
C |
G |
11: 101,221,914 (GRCm39) |
P50R |
possibly damaging |
Het |
Atr |
G |
A |
9: 95,797,050 (GRCm39) |
A1698T |
probably benign |
Het |
Caml |
T |
A |
13: 55,779,670 (GRCm39) |
S248T |
possibly damaging |
Het |
Cdh11 |
C |
T |
8: 103,384,879 (GRCm39) |
G399S |
possibly damaging |
Het |
Chrna10 |
G |
T |
7: 101,761,416 (GRCm39) |
L392I |
probably benign |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Copg1 |
A |
G |
6: 87,879,225 (GRCm39) |
I424V |
probably damaging |
Het |
Cwh43 |
A |
T |
5: 73,565,629 (GRCm39) |
N65Y |
possibly damaging |
Het |
Defb1 |
A |
G |
8: 22,284,486 (GRCm39) |
Y35C |
probably damaging |
Het |
Dpp9 |
A |
G |
17: 56,494,458 (GRCm39) |
Y834H |
probably damaging |
Het |
Emsy |
A |
G |
7: 98,262,285 (GRCm39) |
I598T |
possibly damaging |
Het |
Entpd2 |
C |
T |
2: 25,288,153 (GRCm39) |
R126C |
probably damaging |
Het |
Fbxl17 |
A |
T |
17: 63,806,426 (GRCm39) |
M196K |
probably benign |
Het |
Gcc1 |
T |
C |
6: 28,420,544 (GRCm39) |
R258G |
probably damaging |
Het |
Gga2 |
A |
T |
7: 121,606,494 (GRCm39) |
M157K |
possibly damaging |
Het |
Gna11 |
T |
C |
10: 81,370,918 (GRCm39) |
N106S |
probably benign |
Het |
Gtf3c1 |
A |
C |
7: 125,262,199 (GRCm39) |
S1116A |
possibly damaging |
Het |
Gucy2d |
C |
A |
7: 98,099,064 (GRCm39) |
D294E |
probably damaging |
Het |
Igkv12-46 |
G |
T |
6: 69,741,967 (GRCm39) |
P4T |
possibly damaging |
Het |
Iqcf5 |
A |
T |
9: 106,393,168 (GRCm39) |
I142L |
probably damaging |
Het |
Klhdc9 |
A |
G |
1: 171,187,357 (GRCm39) |
S214P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,683,617 (GRCm39) |
Y292H |
probably damaging |
Het |
Lgr6 |
A |
G |
1: 134,915,245 (GRCm39) |
L778P |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,618,228 (GRCm39) |
N909S |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,154,184 (GRCm39) |
S1088P |
probably damaging |
Het |
Mei1 |
G |
A |
15: 81,966,098 (GRCm39) |
G240D |
|
Het |
Miox |
A |
T |
15: 89,218,703 (GRCm39) |
|
probably benign |
Het |
Myo1e |
A |
G |
9: 70,223,924 (GRCm39) |
Y128C |
probably damaging |
Het |
Necab2 |
T |
C |
8: 120,189,403 (GRCm39) |
V191A |
possibly damaging |
Het |
Nlrp9a |
T |
A |
7: 26,256,915 (GRCm39) |
Y178N |
probably damaging |
Het |
Nr4a3 |
A |
G |
4: 48,051,353 (GRCm39) |
T36A |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,105,402 (GRCm39) |
T1517A |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or4a27 |
T |
C |
2: 88,559,142 (GRCm39) |
K267R |
probably damaging |
Het |
Or4g17 |
T |
G |
2: 111,210,239 (GRCm39) |
I298R |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,872 (GRCm39) |
Y120C |
probably damaging |
Het |
Or51h7 |
C |
T |
7: 102,591,259 (GRCm39) |
C175Y |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,487,592 (GRCm39) |
S1804T |
probably damaging |
Het |
Pdcd11 |
T |
A |
19: 47,082,191 (GRCm39) |
V35D |
possibly damaging |
Het |
Pde10a |
C |
A |
17: 9,170,370 (GRCm39) |
T347K |
probably damaging |
Het |
Rcc1l |
A |
G |
5: 134,182,977 (GRCm39) |
Y432H |
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
Ripor3 |
T |
A |
2: 167,831,646 (GRCm39) |
D385V |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,831,178 (GRCm39) |
K330E |
probably damaging |
Het |
Ryr3 |
T |
G |
2: 112,664,074 (GRCm39) |
D1759A |
probably benign |
Het |
Scube3 |
A |
G |
17: 28,371,414 (GRCm39) |
D43G |
probably benign |
Het |
Sec24b |
A |
G |
3: 129,790,422 (GRCm39) |
I701T |
probably damaging |
Het |
Setd5 |
G |
T |
6: 113,128,366 (GRCm39) |
V1440L |
probably benign |
Het |
Sik3 |
A |
G |
9: 46,106,142 (GRCm39) |
K337E |
possibly damaging |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Slc1a6 |
T |
A |
10: 78,648,698 (GRCm39) |
M473K |
probably benign |
Het |
Spag16 |
A |
G |
1: 69,962,842 (GRCm39) |
R330G |
probably benign |
Het |
Spag6 |
C |
A |
2: 18,704,047 (GRCm39) |
Q32K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,707 (GRCm39) |
G861D |
probably damaging |
Het |
Togaram2 |
T |
A |
17: 72,024,365 (GRCm39) |
S850T |
probably damaging |
Het |
Trbv15 |
A |
T |
6: 41,118,550 (GRCm39) |
E102V |
possibly damaging |
Het |
Trim43b |
G |
T |
9: 88,973,395 (GRCm39) |
H113N |
probably benign |
Het |
Trpm2 |
T |
A |
10: 77,766,389 (GRCm39) |
I877L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,599,152 (GRCm39) |
I19286V |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Tubb6 |
A |
G |
18: 67,534,671 (GRCm39) |
H190R |
probably benign |
Het |
Vmn1r214 |
T |
C |
13: 23,219,007 (GRCm39) |
V167A |
probably benign |
Het |
Vwf |
C |
A |
6: 125,568,670 (GRCm39) |
L398I |
possibly damaging |
Het |
Zfp9 |
G |
T |
6: 118,443,851 (GRCm39) |
A58E |
probably benign |
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 |
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 |
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'- AGACTGCGGATTACCAGGTG -3'
(R):5'- GCCACATATCCAAGAAGATGAGCG -3'
Sequencing Primer
(F):5'- AGGTGCCCTCCCTCAAGTTTG -3'
(R):5'- TATCCAAGAAGATGAGCGTGTAATTG -3'
|
Posted On |
2022-10-06 |