Incidental Mutation 'R8808:Disp2'
ID |
672194 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
MMRRC Submission |
068644-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.896)
|
Stock # |
R8808 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118620489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 407
(Y407C)
|
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: Y407C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: Y407C
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
95% (60/63) |
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 |
1110002E22Rik |
C |
T |
3: 137,775,874 (GRCm39) |
P1688S |
probably benign |
Het |
4933412E24Rik |
T |
C |
15: 59,887,919 (GRCm39) |
T174A |
probably benign |
Het |
Actl10 |
T |
A |
2: 154,395,068 (GRCm39) |
L340Q |
probably damaging |
Het |
Adra1d |
T |
C |
2: 131,403,397 (GRCm39) |
E231G |
probably damaging |
Het |
Agt |
T |
A |
8: 125,291,028 (GRCm39) |
D93V |
probably benign |
Het |
Als2cl |
G |
T |
9: 110,718,282 (GRCm39) |
R341L |
possibly damaging |
Het |
Ankrd63 |
G |
T |
2: 118,533,549 (GRCm39) |
A124E |
unknown |
Het |
Aqp8 |
T |
C |
7: 123,065,922 (GRCm39) |
L239P |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,593,336 (GRCm39) |
E85G |
probably damaging |
Het |
Cacng4 |
T |
A |
11: 107,685,209 (GRCm39) |
I28F |
possibly damaging |
Het |
Cc2d1a |
T |
C |
8: 84,861,599 (GRCm39) |
D741G |
probably damaging |
Het |
Cct8l1 |
T |
A |
5: 25,722,210 (GRCm39) |
N308K |
possibly damaging |
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Chrna5 |
T |
A |
9: 54,905,348 (GRCm39) |
D53E |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,835,514 (GRCm39) |
|
probably null |
Het |
Dnah1 |
A |
G |
14: 31,008,771 (GRCm39) |
M2001T |
probably benign |
Het |
Dysf |
C |
G |
6: 83,996,466 (GRCm39) |
|
probably benign |
Het |
Eif2ak1 |
A |
T |
5: 143,816,264 (GRCm39) |
K187N |
probably damaging |
Het |
Ethe1 |
T |
C |
7: 24,294,496 (GRCm39) |
S100P |
probably damaging |
Het |
Fam186a |
G |
C |
15: 99,842,604 (GRCm39) |
I1213M |
possibly damaging |
Het |
Gbp9 |
A |
G |
5: 105,232,875 (GRCm39) |
F259S |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,072,834 (GRCm39) |
H1610Y |
possibly damaging |
Het |
Hk2 |
T |
A |
6: 82,705,747 (GRCm39) |
D852V |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,531,570 (GRCm39) |
Q3233L |
possibly damaging |
Het |
Htt |
T |
A |
5: 35,046,791 (GRCm39) |
V2369E |
probably benign |
Het |
Il9 |
C |
A |
13: 56,629,942 (GRCm39) |
E35* |
probably null |
Het |
Itga8 |
A |
T |
2: 12,137,328 (GRCm39) |
C933* |
probably null |
Het |
Jak3 |
A |
G |
8: 72,138,164 (GRCm39) |
K872E |
possibly damaging |
Het |
Kcnmb2 |
A |
C |
3: 32,252,266 (GRCm39) |
M156L |
probably benign |
Het |
Kdm4a |
C |
T |
4: 117,999,480 (GRCm39) |
V981I |
unknown |
Het |
Klhl38 |
A |
T |
15: 58,178,225 (GRCm39) |
*582R |
probably null |
Het |
Map3k19 |
A |
G |
1: 127,751,866 (GRCm39) |
F495S |
probably damaging |
Het |
Mpeg1 |
T |
A |
19: 12,440,443 (GRCm39) |
W634R |
probably damaging |
Het |
Mrpl4 |
T |
A |
9: 20,918,978 (GRCm39) |
Y202N |
possibly damaging |
Het |
Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
Or4k36 |
A |
T |
2: 111,146,239 (GRCm39) |
R138S |
possibly damaging |
Het |
Or8k33 |
G |
A |
2: 86,384,297 (GRCm39) |
T57M |
probably damaging |
Het |
Pcdhgb6 |
A |
G |
18: 37,876,451 (GRCm39) |
I386M |
possibly damaging |
Het |
Pitpnm1 |
T |
A |
19: 4,162,356 (GRCm39) |
V1062E |
possibly damaging |
Het |
Plekhm3 |
G |
A |
1: 64,922,355 (GRCm39) |
R607W |
possibly damaging |
Het |
Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
Prap1 |
C |
A |
7: 139,676,982 (GRCm39) |
H141Q |
probably damaging |
Het |
Prep |
T |
A |
10: 44,971,252 (GRCm39) |
Y187* |
probably null |
Het |
Rergl |
T |
G |
6: 139,478,865 (GRCm39) |
E3A |
probably benign |
Het |
Rnf19a |
A |
T |
15: 36,242,021 (GRCm39) |
S673T |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,880,826 (GRCm39) |
E440K |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,309,074 (GRCm39) |
Q645L |
probably damaging |
Het |
Tmcc1 |
C |
A |
6: 116,111,099 (GRCm39) |
V61L |
|
Het |
Tmcc1 |
A |
T |
6: 116,111,098 (GRCm39) |
V61E |
|
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Tmem201 |
C |
A |
4: 149,814,138 (GRCm39) |
R154L |
possibly damaging |
Het |
Tmem71 |
G |
A |
15: 66,410,655 (GRCm39) |
A239V |
possibly damaging |
Het |
Tpgs2 |
A |
G |
18: 25,284,275 (GRCm39) |
W78R |
probably damaging |
Het |
Tssc4 |
T |
C |
7: 142,623,436 (GRCm39) |
V22A |
unknown |
Het |
Ttn |
T |
A |
2: 76,723,128 (GRCm39) |
E6496D |
unknown |
Het |
Ttn |
T |
A |
2: 76,697,539 (GRCm39) |
L227F |
|
Het |
Vps50 |
G |
T |
6: 3,522,338 (GRCm39) |
G169* |
probably null |
Het |
Yy1 |
CGGCGACCACGGCGGCGGCGGGGGCG |
CGGCG |
12: 108,759,506 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,361,185 (GRCm39) |
K1703R |
probably benign |
Het |
Zfp616 |
T |
G |
11: 73,976,523 (GRCm39) |
C931G |
probably damaging |
Het |
Zfp949 |
G |
A |
9: 88,451,417 (GRCm39) |
C329Y |
probably damaging |
Het |
Zswim5 |
T |
A |
4: 116,822,887 (GRCm39) |
D452E |
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 |
|
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'- CCAAGTTCCTGCCAAGTGTAC -3'
(R):5'- AAGTAGGCCATGCGGAATGC -3'
Sequencing Primer
(F):5'- TTCCTGCCAAGTGTACCGGAAG -3'
(R):5'- CATGCGGAATGCCACATG -3'
|
Posted On |
2021-04-30 |