Incidental Mutation 'R6169:Disp2'
ID |
490287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.889)
|
Stock # |
R6169 (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 A
at 118622031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 921
(V921D)
|
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: V921D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: V921D
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
94% (67/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
C |
A |
11: 3,888,005 (GRCm39) |
C127F |
unknown |
Het |
9930111J21Rik2 |
A |
T |
11: 48,910,088 (GRCm39) |
|
probably null |
Het |
Adamts16 |
A |
T |
13: 70,918,393 (GRCm39) |
L676* |
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,567,378 (GRCm39) |
V5265E |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,189,141 (GRCm39) |
M2185K |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Ankrd50 |
A |
G |
3: 38,509,988 (GRCm39) |
V793A |
probably damaging |
Het |
Arid2 |
T |
A |
15: 96,266,558 (GRCm39) |
N535K |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
Bbof1 |
C |
T |
12: 84,473,588 (GRCm39) |
T306I |
probably benign |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Ccdc60 |
C |
A |
5: 116,275,131 (GRCm39) |
A351S |
probably benign |
Het |
Cetn3 |
A |
C |
13: 81,940,097 (GRCm39) |
R44S |
probably damaging |
Het |
Cluap1 |
A |
G |
16: 3,746,425 (GRCm39) |
K262R |
possibly damaging |
Het |
Cnrip1 |
G |
A |
11: 17,004,731 (GRCm39) |
V94I |
probably null |
Het |
Cog6 |
A |
T |
3: 52,914,722 (GRCm39) |
S245T |
probably benign |
Het |
Entrep2 |
G |
A |
7: 64,409,147 (GRCm39) |
P416S |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,889,863 (GRCm39) |
K504E |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,177,409 (GRCm39) |
|
probably null |
Het |
Fyb2 |
T |
C |
4: 104,857,713 (GRCm39) |
V630A |
probably benign |
Het |
Gm43218 |
T |
A |
6: 70,217,606 (GRCm39) |
Y50F |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,779,402 (GRCm39) |
T507A |
probably benign |
Het |
Gucy2e |
G |
T |
11: 69,126,930 (GRCm39) |
A181E |
probably benign |
Het |
Hrnr |
C |
G |
3: 93,233,062 (GRCm39) |
S1100* |
probably null |
Het |
Htt |
T |
C |
5: 35,064,817 (GRCm39) |
V3010A |
probably damaging |
Het |
Ighv1-11 |
T |
C |
12: 114,575,918 (GRCm39) |
Y99C |
probably damaging |
Het |
Ighv1-12 |
T |
C |
12: 114,579,577 (GRCm39) |
K25E |
possibly damaging |
Het |
Il6ra |
A |
G |
3: 89,778,598 (GRCm39) |
F417S |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,885,102 (GRCm39) |
S994P |
probably damaging |
Het |
Itgbl1 |
G |
A |
14: 123,897,790 (GRCm39) |
A24T |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,346,077 (GRCm39) |
F127L |
probably damaging |
Het |
Itprid2 |
T |
G |
2: 79,475,406 (GRCm39) |
I455R |
probably damaging |
Het |
Krt86 |
A |
G |
15: 101,374,170 (GRCm39) |
Y243C |
probably damaging |
Het |
Lnx1 |
A |
T |
5: 74,838,230 (GRCm39) |
W11R |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
Mettl3 |
A |
G |
14: 52,536,214 (GRCm39) |
V210A |
possibly damaging |
Het |
Mllt1 |
T |
C |
17: 57,206,822 (GRCm39) |
T341A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,891,325 (GRCm39) |
E7069G |
unknown |
Het |
Or1e27-ps1 |
A |
T |
11: 73,556,160 (GRCm39) |
T242S |
possibly damaging |
Het |
Or52b4 |
T |
C |
7: 102,184,479 (GRCm39) |
I175T |
probably benign |
Het |
Osgep |
A |
G |
14: 51,157,209 (GRCm39) |
V11A |
possibly damaging |
Het |
Oxld1 |
G |
A |
11: 120,347,675 (GRCm39) |
A174V |
possibly damaging |
Het |
Pibf1 |
A |
T |
14: 99,350,443 (GRCm39) |
E197V |
probably null |
Het |
Pkn1 |
G |
A |
8: 84,407,835 (GRCm39) |
Q425* |
probably null |
Het |
Pramel22 |
T |
C |
4: 143,380,685 (GRCm39) |
Y446C |
probably benign |
Het |
Prss35 |
T |
C |
9: 86,637,491 (GRCm39) |
I87T |
probably benign |
Het |
Psmc3 |
T |
C |
2: 90,888,184 (GRCm39) |
F304S |
probably damaging |
Het |
Psmd11 |
T |
A |
11: 80,351,539 (GRCm39) |
M254K |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,292,385 (GRCm39) |
Y218C |
probably damaging |
Het |
Sec23b |
C |
T |
2: 144,428,894 (GRCm39) |
R701C |
probably damaging |
Het |
Slc22a21 |
A |
G |
11: 53,848,913 (GRCm39) |
S280P |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,405,044 (GRCm39) |
I212T |
possibly damaging |
Het |
Slc7a12 |
T |
C |
3: 14,562,388 (GRCm39) |
V255A |
probably damaging |
Het |
Smc3 |
T |
A |
19: 53,622,517 (GRCm39) |
N697K |
probably benign |
Het |
Snai1 |
C |
A |
2: 167,380,831 (GRCm39) |
P108Q |
probably benign |
Het |
Stim2 |
T |
G |
5: 54,276,021 (GRCm39) |
L732R |
probably damaging |
Het |
Syde1 |
A |
G |
10: 78,421,938 (GRCm39) |
L597S |
probably damaging |
Het |
Tcte1 |
T |
A |
17: 45,845,996 (GRCm39) |
M200K |
probably benign |
Het |
Tenm2 |
T |
A |
11: 36,030,517 (GRCm39) |
T761S |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,262 (GRCm39) |
N261K |
probably benign |
Het |
Tlr2 |
C |
A |
3: 83,745,455 (GRCm39) |
E209D |
probably benign |
Het |
Tpp2 |
T |
C |
1: 44,022,739 (GRCm39) |
L33P |
probably damaging |
Het |
Trmt1l |
C |
A |
1: 151,304,704 (GRCm39) |
|
probably benign |
Het |
Unc45a |
A |
C |
7: 79,978,511 (GRCm39) |
S646A |
possibly damaging |
Het |
Usp37 |
A |
T |
1: 74,534,910 (GRCm39) |
I12N |
probably damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,104,382 (GRCm39) |
V335A |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,311,878 (GRCm39) |
S762T |
unknown |
Het |
Yeats2 |
A |
G |
16: 20,038,417 (GRCm39) |
K129E |
probably damaging |
Het |
Zscan4-ps2 |
T |
C |
7: 11,251,558 (GRCm39) |
V198A |
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 |
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'- CCTGGCAGCTCTAGTTCTAAAG -3'
(R):5'- GGTTAAGTCTACAGAGAGGCCC -3'
Sequencing Primer
(F):5'- GGCAGCTCTAGTTCTAAAGTTCCAG -3'
(R):5'- TCTACAGAGAGGCCCACAGAG -3'
|
Posted On |
2017-10-10 |