Incidental Mutation 'R5208:Disp2'
| ID |
402133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp2
|
| Ensembl Gene |
ENSMUSG00000040035 |
| Gene Name |
dispatched RND transporter family member 2 |
| Synonyms |
B230210L08Rik, DispB |
| MMRRC Submission |
042783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R5208 (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 T
at 118622286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1006
(R1006L)
|
| 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: R1006L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: R1006L
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,344,398 (GRCm39) |
N58I |
probably benign |
Het |
| Adgra3 |
T |
C |
5: 50,168,857 (GRCm39) |
D163G |
probably damaging |
Het |
| Alcam |
C |
A |
16: 52,115,411 (GRCm39) |
E236* |
probably null |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Aplf |
G |
T |
6: 87,619,008 (GRCm39) |
|
probably null |
Het |
| Arl4a |
A |
T |
12: 40,086,744 (GRCm39) |
M1K |
probably null |
Het |
| Asic4 |
A |
G |
1: 75,427,870 (GRCm39) |
D132G |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,374,422 (GRCm39) |
I290T |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,008,865 (GRCm39) |
S290P |
probably benign |
Het |
| Bmp6 |
G |
A |
13: 38,653,673 (GRCm39) |
A247T |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,457,711 (GRCm38) |
S1057P |
possibly damaging |
Het |
| Caprin1 |
A |
C |
2: 103,599,778 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
G |
A |
19: 6,371,750 (GRCm39) |
R1343K |
probably benign |
Het |
| Cdk18 |
A |
T |
1: 132,045,218 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,403,243 (GRCm39) |
|
probably null |
Het |
| Cfhr1 |
A |
T |
1: 139,484,068 (GRCm39) |
|
probably null |
Het |
| Chn2 |
A |
T |
6: 54,272,786 (GRCm39) |
I201F |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,673,129 (GRCm39) |
D175G |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnah3 |
C |
G |
7: 119,631,861 (GRCm39) |
D1365H |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,644,343 (GRCm39) |
Y372* |
probably null |
Het |
| Eftud2 |
G |
A |
11: 102,732,011 (GRCm39) |
P768S |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,691,545 (GRCm39) |
S1170A |
probably benign |
Het |
| Gdpd4 |
A |
C |
7: 97,664,118 (GRCm39) |
K572Q |
probably benign |
Het |
| Gm7356 |
T |
C |
17: 14,221,456 (GRCm39) |
E191G |
probably damaging |
Het |
| Gm8674 |
A |
T |
13: 50,055,957 (GRCm39) |
|
noncoding transcript |
Het |
| Gulp1 |
T |
G |
1: 44,820,199 (GRCm39) |
H235Q |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,485,418 (GRCm39) |
V202A |
possibly damaging |
Het |
| Inpp5b |
G |
A |
4: 124,645,110 (GRCm39) |
D179N |
possibly damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,905,069 (GRCm39) |
Y194F |
possibly damaging |
Het |
| Lars1 |
A |
C |
18: 42,350,622 (GRCm39) |
S896A |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,924,793 (GRCm39) |
V538A |
probably damaging |
Het |
| Map3k14 |
A |
T |
11: 103,129,972 (GRCm39) |
L315Q |
probably damaging |
Het |
| Met |
T |
A |
6: 17,526,422 (GRCm39) |
Y500* |
probably null |
Het |
| Mga |
T |
G |
2: 119,778,462 (GRCm39) |
I2093M |
possibly damaging |
Het |
| Mpl |
T |
G |
4: 118,313,078 (GRCm39) |
I152L |
probably benign |
Het |
| Mthfsd |
G |
A |
8: 121,835,058 (GRCm39) |
|
probably benign |
Het |
| Mup4 |
A |
G |
4: 59,958,119 (GRCm39) |
F150L |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,121,273 (GRCm39) |
V11D |
probably benign |
Het |
| Or4f54 |
A |
T |
2: 111,122,946 (GRCm39) |
E111V |
probably damaging |
Het |
| Or52n2c |
A |
G |
7: 104,574,933 (GRCm39) |
F13L |
probably benign |
Het |
| Or5ak20 |
T |
A |
2: 85,184,142 (GRCm39) |
I43F |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,114,854 (GRCm39) |
|
probably null |
Het |
| Pex2 |
C |
T |
3: 5,626,428 (GRCm39) |
R127H |
probably benign |
Het |
| Pgap3 |
A |
G |
11: 98,288,874 (GRCm39) |
W94R |
probably damaging |
Het |
| Prl4a1 |
T |
C |
13: 28,202,467 (GRCm39) |
V14A |
probably benign |
Het |
| Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,822,548 (GRCm39) |
Y209C |
probably damaging |
Het |
| Scart2 |
C |
A |
7: 139,877,949 (GRCm39) |
A977D |
probably benign |
Het |
| Sema4c |
T |
A |
1: 36,589,407 (GRCm39) |
D573V |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,056,379 (GRCm39) |
I2192F |
possibly damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Sp4 |
A |
G |
12: 118,263,281 (GRCm39) |
L255P |
probably damaging |
Het |
| Spaca7 |
A |
G |
8: 12,636,456 (GRCm39) |
Y94C |
probably damaging |
Het |
| Stt3a |
T |
G |
9: 36,657,891 (GRCm39) |
I390L |
possibly damaging |
Het |
| Tars2 |
A |
G |
3: 95,654,905 (GRCm39) |
W128R |
probably damaging |
Het |
| Tll1 |
G |
A |
8: 64,504,527 (GRCm39) |
T623M |
probably damaging |
Het |
| Tmem129 |
A |
T |
5: 33,812,850 (GRCm39) |
V166E |
probably damaging |
Het |
| Tmem200a |
T |
A |
10: 25,870,051 (GRCm39) |
I73F |
probably benign |
Het |
| Tnks1bp1 |
T |
C |
2: 84,900,976 (GRCm39) |
M1561T |
probably damaging |
Het |
| Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,610,027 (GRCm39) |
V1153E |
probably benign |
Het |
| Zwilch |
T |
C |
9: 64,060,205 (GRCm39) |
I354V |
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 |
|
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'- CAGTCTGTTCTCTGTGGCAG -3'
(R):5'- TGGCCACAGTTCTTTTCTGG -3'
Sequencing Primer
(F):5'- CTCTGTGGCAGCTGTGG -3'
(R):5'- GTTCTTTTCTGGCCCGAAGAAACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation