Incidental Mutation 'R7400:Disp2'
| ID |
574078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp2
|
| Ensembl Gene |
ENSMUSG00000040035 |
| Gene Name |
dispatched RND transporter family member 2 |
| Synonyms |
B230210L08Rik, DispB |
| MMRRC Submission |
045482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R7400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118622367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1033
(L1033P)
|
| 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: L1033P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: L1033P
| 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 |
|
| Meta Mutation Damage Score |
0.6032 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (69/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,496,547 (GRCm39) |
S118P |
unknown |
Het |
| Ahnak |
T |
A |
19: 8,991,977 (GRCm39) |
D4420E |
probably damaging |
Het |
| Atp5mc2 |
C |
T |
15: 102,573,547 (GRCm39) |
A90T |
possibly damaging |
Het |
| Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
| Cd48 |
G |
A |
1: 171,523,493 (GRCm39) |
R112H |
probably benign |
Het |
| Cdh8 |
A |
T |
8: 100,006,192 (GRCm39) |
Y132N |
probably damaging |
Het |
| Cfap70 |
A |
C |
14: 20,458,335 (GRCm39) |
S793A |
probably benign |
Het |
| Cmip |
A |
G |
8: 117,984,144 (GRCm39) |
|
probably null |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,223 (GRCm39) |
N197S |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 37,987,555 (GRCm39) |
D1067G |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,713,103 (GRCm39) |
A1981D |
possibly damaging |
Het |
| Eci3 |
T |
C |
13: 35,143,960 (GRCm39) |
D55G |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,831,432 (GRCm39) |
D174E |
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,684,581 (GRCm39) |
E406G |
possibly damaging |
Het |
| Erich3 |
A |
G |
3: 154,468,214 (GRCm39) |
K889E |
|
Het |
| Fat4 |
C |
A |
3: 38,942,073 (GRCm39) |
T322K |
probably damaging |
Het |
| Fitm1 |
A |
T |
14: 55,814,226 (GRCm39) |
I241F |
possibly damaging |
Het |
| Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
| Gpsm2 |
T |
A |
3: 108,587,004 (GRCm39) |
D644V |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,092,847 (GRCm39) |
L75M |
possibly damaging |
Het |
| Gvin2 |
T |
A |
7: 105,551,247 (GRCm39) |
I602F |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,550,181 (GRCm39) |
I2668V |
probably damaging |
Het |
| Hoxa7 |
A |
G |
6: 52,194,033 (GRCm39) |
I118T |
possibly damaging |
Het |
| Hsp90ab1 |
A |
G |
17: 45,880,210 (GRCm39) |
V473A |
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,081,801 (GRCm39) |
|
probably null |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,837 (GRCm39) |
S40P |
probably damaging |
Het |
| Inhca |
T |
A |
9: 103,127,861 (GRCm39) |
E690V |
probably benign |
Het |
| Kif28 |
A |
C |
1: 179,527,839 (GRCm39) |
W771G |
probably damaging |
Het |
| Klf13 |
G |
C |
7: 63,587,996 (GRCm39) |
A100G |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,305,933 (GRCm39) |
E300G |
possibly damaging |
Het |
| Krt40 |
A |
G |
11: 99,433,969 (GRCm39) |
S6P |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,741,072 (GRCm39) |
R800W |
probably damaging |
Het |
| Mef2d |
T |
C |
3: 88,075,038 (GRCm39) |
L408P |
possibly damaging |
Het |
| Mmp10 |
T |
A |
9: 7,503,301 (GRCm39) |
M87K |
probably damaging |
Het |
| Mrgprd |
T |
A |
7: 144,875,643 (GRCm39) |
H171Q |
probably benign |
Het |
| Muc1 |
C |
T |
3: 89,137,953 (GRCm39) |
T265I |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,750,939 (GRCm39) |
N570D |
|
Het |
| Nfs1 |
T |
A |
2: 155,968,243 (GRCm39) |
I408F |
probably damaging |
Het |
| Npdc1 |
G |
T |
2: 25,296,257 (GRCm39) |
C48F |
probably damaging |
Het |
| Or2j3 |
A |
T |
17: 38,616,222 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or52e7 |
T |
C |
7: 104,684,417 (GRCm39) |
I4T |
probably benign |
Het |
| Or52j3 |
T |
C |
7: 102,836,587 (GRCm39) |
S260P |
probably damaging |
Het |
| Or9a2 |
A |
T |
6: 41,748,678 (GRCm39) |
L185H |
probably damaging |
Het |
| Osbpl2 |
T |
C |
2: 179,795,114 (GRCm39) |
M332T |
probably benign |
Het |
| Ostm1 |
T |
A |
10: 42,574,213 (GRCm39) |
V302D |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,542,532 (GRCm39) |
D672G |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,201,762 (GRCm39) |
K392* |
probably null |
Het |
| Pnpla1 |
A |
T |
17: 29,077,950 (GRCm39) |
D37V |
probably damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,129,026 (GRCm39) |
S198P |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,176,932 (GRCm39) |
N1911K |
probably damaging |
Het |
| Ripply3 |
C |
A |
16: 94,136,759 (GRCm39) |
A140E |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,928,015 (GRCm39) |
C8R |
possibly damaging |
Het |
| Slamf6 |
T |
C |
1: 171,747,360 (GRCm39) |
S41P |
unknown |
Het |
| Slc15a5 |
A |
G |
6: 138,050,055 (GRCm39) |
M120T |
probably benign |
Het |
| Slc25a20 |
T |
G |
9: 108,559,172 (GRCm39) |
D179E |
possibly damaging |
Het |
| Sltm |
T |
A |
9: 70,493,352 (GRCm39) |
V783E |
probably damaging |
Het |
| Smc1b |
C |
A |
15: 84,953,921 (GRCm39) |
R1116L |
probably damaging |
Het |
| Smim23 |
A |
G |
11: 32,774,471 (GRCm39) |
V16A |
probably benign |
Het |
| Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,201,052 (GRCm39) |
D2525G |
probably damaging |
Het |
| St14 |
A |
C |
9: 31,019,571 (GRCm39) |
N83K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,879,341 (GRCm39) |
N713S |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,168,580 (GRCm39) |
L5267H |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,344,010 (GRCm39) |
L271P |
probably damaging |
Het |
| Tfap2d |
C |
T |
1: 19,213,150 (GRCm39) |
H325Y |
possibly damaging |
Het |
| Trav23 |
A |
G |
14: 54,215,020 (GRCm39) |
R78G |
probably benign |
Het |
| Ttc39c |
A |
T |
18: 12,776,856 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,070,889 (GRCm39) |
D1228G |
probably damaging |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,874 (GRCm39) |
H53L |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,379,046 (GRCm39) |
L53F |
probably damaging |
Het |
| Zfp532 |
C |
T |
18: 65,771,984 (GRCm39) |
T834M |
possibly 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 |
|
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'- TCAACACTGCCGAAGCTCTC -3'
(R):5'- TGCAACTCATAGTGTTCGGAG -3'
Sequencing Primer
(F):5'- ACACTGCCGAAGCTCTCTTTCTC -3'
(R):5'- TCGGAGAATCCTGGTGGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation