Incidental Mutation 'R6187:Disp2'
ID |
502219 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
MMRRC Submission |
044327-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.896)
|
Stock # |
R6187 (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 118622624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1119
(S1119G)
|
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: S1119G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: S1119G
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (79/80) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,259,085 (GRCm39) |
L2937H |
probably damaging |
Het |
Abca3 |
A |
G |
17: 24,627,141 (GRCm39) |
I1281V |
possibly damaging |
Het |
Adam2 |
A |
T |
14: 66,306,068 (GRCm39) |
S138T |
possibly damaging |
Het |
Adamts4 |
C |
T |
1: 171,078,562 (GRCm39) |
P61S |
probably damaging |
Het |
Adamts6 |
C |
T |
13: 104,433,933 (GRCm39) |
P121S |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ak1 |
G |
A |
2: 32,523,489 (GRCm39) |
V186M |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,466,991 (GRCm39) |
Y1096C |
probably damaging |
Het |
Ankrd29 |
A |
C |
18: 12,412,747 (GRCm39) |
Y73* |
probably null |
Het |
Asah2 |
A |
T |
19: 32,002,267 (GRCm39) |
S292R |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,377 (GRCm39) |
T105S |
probably damaging |
Het |
Axdnd1 |
T |
A |
1: 156,193,182 (GRCm39) |
|
probably null |
Het |
Bub1b |
T |
G |
2: 118,461,481 (GRCm39) |
S678A |
probably damaging |
Het |
Cdcp3 |
G |
A |
7: 130,872,328 (GRCm39) |
|
probably benign |
Het |
Cenpq |
T |
A |
17: 41,238,089 (GRCm39) |
M142L |
probably benign |
Het |
Ciz1 |
T |
A |
2: 32,260,063 (GRCm39) |
V203E |
possibly damaging |
Het |
Cmklr2 |
T |
C |
1: 63,222,434 (GRCm39) |
E267G |
probably damaging |
Het |
Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
Cyp2c68 |
A |
T |
19: 39,729,452 (GRCm39) |
S12T |
probably benign |
Het |
Cyp4f18 |
C |
A |
8: 72,747,030 (GRCm39) |
A322S |
probably damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
Faxc |
A |
G |
4: 21,958,445 (GRCm39) |
T201A |
possibly damaging |
Het |
Fbxw14 |
A |
G |
9: 109,105,332 (GRCm39) |
S278P |
probably damaging |
Het |
Fpr1 |
G |
T |
17: 18,097,190 (GRCm39) |
C266* |
probably null |
Het |
Fsip2 |
T |
C |
2: 82,812,798 (GRCm39) |
I3039T |
probably benign |
Het |
Gas1 |
G |
T |
13: 60,324,186 (GRCm39) |
S190R |
possibly damaging |
Het |
Gemin2 |
A |
G |
12: 59,060,371 (GRCm39) |
T37A |
probably damaging |
Het |
Gm21370 |
T |
C |
13: 120,488,403 (GRCm39) |
I49V |
probably benign |
Het |
Gm8444 |
T |
C |
15: 81,727,807 (GRCm39) |
|
probably benign |
Het |
Gria1 |
A |
G |
11: 57,128,936 (GRCm39) |
D401G |
possibly damaging |
Het |
Gstk1 |
G |
A |
6: 42,226,794 (GRCm39) |
V187I |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,506,479 (GRCm39) |
D3776G |
probably damaging |
Het |
Itfg1 |
A |
C |
8: 86,563,094 (GRCm39) |
V102G |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,101,307 (GRCm39) |
|
probably null |
Het |
Kif13b |
A |
C |
14: 64,973,664 (GRCm39) |
D338A |
probably damaging |
Het |
Mab21l2 |
T |
C |
3: 86,454,565 (GRCm39) |
Y145C |
probably damaging |
Het |
Magel2 |
A |
G |
7: 62,027,389 (GRCm39) |
M98V |
unknown |
Het |
Mdfic |
T |
C |
6: 15,721,196 (GRCm39) |
|
probably benign |
Het |
Minar1 |
A |
G |
9: 89,473,220 (GRCm39) |
I897T |
probably damaging |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,384,453 (GRCm39) |
L3475P |
probably damaging |
Het |
Myh14 |
G |
A |
7: 44,276,457 (GRCm39) |
T1216I |
probably damaging |
Het |
Nfatc2 |
T |
A |
2: 168,322,158 (GRCm39) |
I914F |
probably benign |
Het |
Nup58 |
T |
C |
14: 60,478,256 (GRCm39) |
|
probably null |
Het |
Or10ag53 |
T |
A |
2: 87,083,042 (GRCm39) |
S254T |
probably damaging |
Het |
Or10al4 |
T |
C |
17: 38,037,032 (GRCm39) |
L48P |
probably damaging |
Het |
Or13a22 |
A |
G |
7: 140,072,529 (GRCm39) |
|
probably benign |
Het |
Or2y13 |
G |
T |
11: 49,414,338 (GRCm39) |
|
probably benign |
Het |
Or4l15 |
A |
G |
14: 50,198,526 (GRCm39) |
M1T |
probably null |
Het |
Or5p50 |
A |
T |
7: 107,421,781 (GRCm39) |
N298K |
probably benign |
Het |
Or7g20 |
A |
C |
9: 18,946,689 (GRCm39) |
Q90P |
probably benign |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,689,315 (GRCm39) |
Q513R |
probably damaging |
Het |
Padi1 |
C |
T |
4: 140,554,276 (GRCm39) |
V310M |
probably damaging |
Het |
Pard3 |
T |
C |
8: 127,800,023 (GRCm39) |
L11S |
probably benign |
Het |
Pcdhb14 |
A |
T |
18: 37,581,497 (GRCm39) |
D201V |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,475,622 (GRCm39) |
R253G |
probably benign |
Het |
Plxnb2 |
C |
T |
15: 89,051,461 (GRCm39) |
D253N |
probably damaging |
Het |
Ppp2cb |
T |
C |
8: 34,105,502 (GRCm39) |
S171P |
probably damaging |
Het |
Prr5 |
C |
T |
15: 84,577,973 (GRCm39) |
T94M |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,420,092 (GRCm39) |
F340S |
probably damaging |
Het |
Rpa1 |
C |
G |
11: 75,201,062 (GRCm39) |
G433A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,788,386 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Homo |
Svep1 |
C |
T |
4: 58,072,872 (GRCm39) |
G2146R |
probably damaging |
Het |
Tas2r106 |
A |
G |
6: 131,655,173 (GRCm39) |
M226T |
probably damaging |
Het |
Tbk1 |
T |
C |
10: 121,420,148 (GRCm39) |
I14V |
probably benign |
Het |
Tekt4 |
G |
C |
17: 25,691,197 (GRCm39) |
V168L |
probably damaging |
Het |
Tnfaip1 |
T |
A |
11: 78,418,372 (GRCm39) |
T232S |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,038 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,774,781 (GRCm39) |
Y2133F |
unknown |
Het |
Uap1l1 |
C |
T |
2: 25,252,741 (GRCm39) |
R433H |
probably damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,155,181 (GRCm39) |
F339L |
probably damaging |
Het |
Unc5b |
T |
C |
10: 60,608,003 (GRCm39) |
Y699C |
probably damaging |
Het |
Vcpip1 |
T |
C |
1: 9,795,005 (GRCm39) |
H1122R |
probably damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,326,888 (GRCm39) |
V391A |
probably benign |
Het |
Vps13c |
C |
T |
9: 67,822,939 (GRCm39) |
R1327W |
probably damaging |
Het |
Yes1 |
A |
G |
5: 32,802,385 (GRCm39) |
Y100C |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,577,134 (GRCm39) |
N1326K |
possibly damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,890 (GRCm39) |
C1273Y |
probably benign |
Het |
Zfr |
AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA |
AGCAGCAGCA |
15: 12,146,317 (GRCm39) |
|
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 |
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'- TCTATCGGAAGCTGGGCATC -3'
(R):5'- CACTGGCTGAAGACTGTCTG -3'
Sequencing Primer
(F):5'- AAGCTGGGCATCATCGTCATG -3'
(R):5'- CTGGTGGTCTAGGAGCAGATC -3'
|
Posted On |
2018-02-27 |