Incidental Mutation 'R7798:Disp2'
ID |
600334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
MMRRC Submission |
045648-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.889)
|
Stock # |
R7798 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 118622360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 1031
(I1031L)
|
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: I1031L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: I1031L
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: 99.6%
- 20x: 98.7%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
A |
15: 79,019,932 (GRCm39) |
N128I |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,241,664 (GRCm39) |
T1176A |
probably benign |
Het |
Abca9 |
A |
G |
11: 110,029,005 (GRCm39) |
V851A |
probably benign |
Het |
Abcc6 |
C |
A |
7: 45,626,277 (GRCm39) |
E1494* |
probably null |
Het |
Adamts14 |
A |
T |
10: 61,106,952 (GRCm39) |
V56E |
probably damaging |
Het |
Adamts15 |
G |
A |
9: 30,815,939 (GRCm39) |
T639M |
probably damaging |
Het |
Albfm1 |
T |
C |
5: 90,745,370 (GRCm39) |
S608P |
possibly damaging |
Het |
Arhgap11a |
A |
C |
2: 113,673,680 (GRCm39) |
V70G |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,249 (GRCm39) |
D113E |
probably benign |
Het |
Best1 |
T |
C |
19: 9,969,035 (GRCm39) |
Y227C |
probably damaging |
Het |
Camk2b |
A |
G |
11: 5,928,399 (GRCm39) |
S447P |
probably benign |
Het |
Ccdc88a |
C |
A |
11: 29,427,348 (GRCm39) |
Q1018K |
probably benign |
Het |
Cdhr17 |
T |
C |
5: 17,061,656 (GRCm39) |
F801L |
possibly damaging |
Het |
Cfap74 |
T |
A |
4: 155,507,079 (GRCm39) |
V180D |
|
Het |
Clca3a1 |
T |
A |
3: 144,463,723 (GRCm39) |
T185S |
probably damaging |
Het |
Clca3b |
T |
C |
3: 144,533,891 (GRCm39) |
S495G |
probably damaging |
Het |
Cyb5r2 |
A |
T |
7: 107,353,155 (GRCm39) |
Y96N |
possibly damaging |
Het |
Cyp21a1 |
T |
C |
17: 35,023,295 (GRCm39) |
K27E |
probably benign |
Het |
Cyp2ab1 |
T |
C |
16: 20,131,166 (GRCm39) |
E321G |
probably benign |
Het |
Des |
T |
C |
1: 75,339,003 (GRCm39) |
I228T |
probably damaging |
Het |
Dis3l |
G |
T |
9: 64,248,299 (GRCm39) |
P39T |
probably benign |
Het |
Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
Etl4 |
G |
A |
2: 20,786,757 (GRCm39) |
|
probably null |
Het |
Fgf23 |
A |
T |
6: 127,050,177 (GRCm39) |
D62V |
probably damaging |
Het |
Galnt15 |
C |
T |
14: 31,751,862 (GRCm39) |
T138I |
possibly damaging |
Het |
Ggt6 |
A |
T |
11: 72,326,367 (GRCm39) |
|
probably benign |
Het |
Gpr180 |
T |
A |
14: 118,391,098 (GRCm39) |
V209D |
probably damaging |
Het |
Gzma |
A |
T |
13: 113,232,858 (GRCm39) |
F78Y |
probably benign |
Het |
Igkv8-30 |
A |
T |
6: 70,094,355 (GRCm39) |
C19S |
probably benign |
Het |
Il1r1 |
G |
A |
1: 40,349,526 (GRCm39) |
V361I |
probably benign |
Het |
Intu |
T |
C |
3: 40,646,359 (GRCm39) |
V598A |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,287,513 (GRCm39) |
F471L |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,924,357 (GRCm39) |
V1081E |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,957,180 (GRCm39) |
V2163E |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,271,893 (GRCm39) |
K6552E |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,956,315 (GRCm39) |
H842R |
probably benign |
Het |
Mgat4b |
A |
G |
11: 50,116,497 (GRCm39) |
T10A |
possibly damaging |
Het |
Muc21 |
C |
G |
17: 35,932,146 (GRCm39) |
G680A |
unknown |
Het |
Muc5ac |
T |
C |
7: 141,347,778 (GRCm39) |
|
probably null |
Het |
Nrk |
CGCAGCAGCAGCAGCAGCAGC |
CGCAGCAGCAGCAGCAGC |
X: 137,883,426 (GRCm39) |
|
probably benign |
Het |
Nsun4 |
T |
G |
4: 115,908,371 (GRCm39) |
S730R |
possibly damaging |
Het |
Or12e1 |
A |
T |
2: 87,022,636 (GRCm39) |
I202L |
probably benign |
Het |
Or12k7 |
A |
T |
2: 36,959,186 (GRCm39) |
S290C |
probably damaging |
Het |
Or1n1 |
T |
C |
2: 36,750,348 (GRCm39) |
E4G |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,838,617 (GRCm39) |
F305L |
probably benign |
Het |
Or4k15 |
A |
T |
14: 50,364,895 (GRCm39) |
Y287F |
probably damaging |
Het |
Padi3 |
C |
T |
4: 140,513,750 (GRCm39) |
E653K |
probably benign |
Het |
Pde4a |
A |
G |
9: 21,109,959 (GRCm39) |
E280G |
possibly damaging |
Het |
Phactr3 |
G |
A |
2: 177,925,703 (GRCm39) |
R326H |
probably benign |
Het |
Prob1 |
G |
A |
18: 35,786,397 (GRCm39) |
P619L |
possibly damaging |
Het |
Ptk2 |
G |
A |
15: 73,167,224 (GRCm39) |
R368W |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,116,293 (GRCm39) |
T240A |
probably benign |
Het |
Rpa1 |
A |
T |
11: 75,203,635 (GRCm39) |
Y356N |
probably damaging |
Het |
Rxrb |
T |
A |
17: 34,252,579 (GRCm39) |
D165E |
probably damaging |
Het |
Sco1 |
A |
G |
11: 66,944,628 (GRCm39) |
T84A |
possibly damaging |
Het |
Sepsecs |
T |
C |
5: 52,804,531 (GRCm39) |
I380V |
probably benign |
Het |
Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,968,344 (GRCm39) |
S459P |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,771,162 (GRCm39) |
S1503R |
possibly damaging |
Het |
Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
Spty2d1 |
G |
A |
7: 46,645,804 (GRCm39) |
S613F |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,793,776 (GRCm39) |
Y440N |
probably damaging |
Het |
Syn3 |
A |
G |
10: 85,916,117 (GRCm39) |
Y290H |
probably damaging |
Het |
Tex15 |
C |
T |
8: 34,071,875 (GRCm39) |
S2474F |
possibly damaging |
Het |
Tgtp1 |
A |
G |
11: 48,878,159 (GRCm39) |
F182S |
probably benign |
Het |
Tmcc1 |
A |
T |
6: 116,020,539 (GRCm39) |
S304R |
|
Het |
Tmem130 |
T |
G |
5: 144,680,580 (GRCm39) |
K275Q |
probably damaging |
Het |
Tmem9 |
C |
A |
1: 135,961,927 (GRCm39) |
T174K |
probably damaging |
Het |
Ttyh3 |
C |
T |
5: 140,620,538 (GRCm39) |
R233Q |
probably damaging |
Het |
Tut7 |
A |
T |
13: 59,963,389 (GRCm39) |
M323K |
possibly damaging |
Het |
Twnk |
T |
C |
19: 44,996,107 (GRCm39) |
M180T |
probably benign |
Het |
Ube4a |
A |
G |
9: 44,844,629 (GRCm39) |
V874A |
probably damaging |
Het |
Ugt2a3 |
T |
C |
5: 87,475,582 (GRCm39) |
N350S |
probably damaging |
Het |
Vegfa |
C |
T |
17: 46,342,761 (GRCm39) |
G19D |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,041,518 (GRCm39) |
C399F |
possibly damaging |
Het |
Vmn2r65 |
G |
T |
7: 84,595,530 (GRCm39) |
P385T |
probably benign |
Het |
Vmn2r65 |
A |
G |
7: 84,596,192 (GRCm39) |
F164S |
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 |
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 |
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'- CTGGTTCTTCTTGAGTGGCAAC -3'
(R):5'- TCTCGTCAGGATCCTCAGTC -3'
Sequencing Primer
(F):5'- AGTGGCAACTCAACACTGC -3'
(R):5'- GATCCTCAGTCCCGGCATC -3'
|
Posted On |
2019-11-26 |