Incidental Mutation 'R8013:Disp2'
| ID |
616978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp2
|
| Ensembl Gene |
ENSMUSG00000040035 |
| Gene Name |
dispatched RND transporter family member 2 |
| Synonyms |
B230210L08Rik, DispB |
| MMRRC Submission |
067453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R8013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 118620163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 298
(Y298*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037547]
[ENSMUST00000063975]
[ENSMUST00000110843]
[ENSMUST00000110846]
|
| AlphaFold |
Q8CIP5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037547
AA Change: Y298*
|
| SMART Domains |
Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: Y298*
| 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: 99.8%
- 20x: 99.4%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
C |
A |
15: 12,824,615 (GRCm39) |
D7Y |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,699 (GRCm39) |
D2661G |
unknown |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,060,798 (GRCm39) |
N3093K |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,961,157 (GRCm39) |
R1627C |
probably benign |
Het |
| Baz2a |
T |
G |
10: 127,961,161 (GRCm39) |
V1628G |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,648,536 (GRCm39) |
I404K |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,347,796 (GRCm39) |
Y764C |
probably damaging |
Het |
| Casr |
G |
A |
16: 36,330,006 (GRCm39) |
L443F |
probably benign |
Het |
| Cfap43 |
T |
A |
19: 47,761,548 (GRCm39) |
I849F |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,176,278 (GRCm39) |
H812Q |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,546,990 (GRCm39) |
D528G |
probably damaging |
Het |
| Depdc5 |
C |
T |
5: 33,131,186 (GRCm39) |
T1229M |
probably benign |
Het |
| Dis3 |
T |
A |
14: 99,314,835 (GRCm39) |
R954W |
possibly damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,040 (GRCm39) |
T332A |
probably damaging |
Het |
| Dock2 |
A |
C |
11: 34,596,677 (GRCm39) |
I393S |
probably damaging |
Het |
| Dtd1 |
A |
G |
2: 144,459,252 (GRCm39) |
D92G |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,014,030 (GRCm39) |
V121D |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,487,938 (GRCm39) |
I550N |
probably benign |
Het |
| Entpd7 |
A |
G |
19: 43,716,494 (GRCm39) |
D496G |
probably benign |
Het |
| Ets2 |
T |
A |
16: 95,517,144 (GRCm39) |
L292Q |
probably damaging |
Het |
| Ext1 |
T |
C |
15: 52,939,283 (GRCm39) |
I589V |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,576,332 (GRCm39) |
E142D |
possibly damaging |
Het |
| Farp1 |
T |
A |
14: 121,479,813 (GRCm39) |
I368N |
probably damaging |
Het |
| Fars2 |
C |
T |
13: 36,389,068 (GRCm39) |
Q186* |
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
| Fbxo38 |
T |
C |
18: 62,663,882 (GRCm39) |
E203G |
possibly damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,966 (GRCm39) |
R295H |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,381,946 (GRCm39) |
M1K |
probably null |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm28363 |
A |
G |
1: 117,654,534 (GRCm39) |
R58G |
probably benign |
Het |
| Gm8356 |
A |
T |
14: 17,692,450 (GRCm39) |
N58K |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,823,615 (GRCm39) |
|
probably null |
Het |
| Hephl1 |
T |
A |
9: 14,965,905 (GRCm39) |
D1016V |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,148,725 (GRCm39) |
N379D |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,423,211 (GRCm39) |
I831F |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,856,977 (GRCm39) |
R377G |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,220,494 (GRCm39) |
H457R |
probably benign |
Het |
| Lmnb1 |
T |
A |
18: 56,841,431 (GRCm39) |
Y83N |
probably damaging |
Het |
| Loxl4 |
A |
G |
19: 42,596,115 (GRCm39) |
C113R |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,325,278 (GRCm39) |
D1912V |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,420,619 (GRCm39) |
T212S |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,489,918 (GRCm39) |
C504* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,001,372 (GRCm39) |
I53T |
unknown |
Het |
| Mtcl2 |
A |
G |
2: 156,872,706 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
T |
18: 74,893,970 (GRCm39) |
Q1700* |
probably null |
Het |
| Npas2 |
T |
C |
1: 39,377,146 (GRCm39) |
F503L |
probably benign |
Het |
| Nrg1 |
A |
T |
8: 32,439,951 (GRCm39) |
S149T |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,958 (GRCm39) |
F216L |
probably benign |
Het |
| Or2ag15 |
C |
T |
7: 106,340,824 (GRCm39) |
V106I |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,358,280 (GRCm39) |
V158A |
probably benign |
Het |
| Or9r7 |
T |
A |
10: 129,962,647 (GRCm39) |
K93M |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,323,966 (GRCm39) |
L66S |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,478 (GRCm39) |
S83P |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,754,320 (GRCm39) |
M192I |
probably benign |
Het |
| Ptprs |
A |
C |
17: 56,742,994 (GRCm39) |
S383A |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,230,368 (GRCm39) |
V1138G |
probably damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,621 (GRCm39) |
P55L |
possibly damaging |
Het |
| Sgsh |
A |
G |
11: 119,243,521 (GRCm39) |
V67A |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,218,794 (GRCm39) |
Y465C |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,518,582 (GRCm39) |
I502T |
probably damaging |
Het |
| Sugp2 |
T |
A |
8: 70,704,292 (GRCm39) |
Y610N |
probably damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,401,795 (GRCm39) |
P385S |
possibly damaging |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,319 (GRCm39) |
I99V |
probably benign |
Het |
| Tpr |
G |
T |
1: 150,274,359 (GRCm39) |
V163L |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,248,480 (GRCm39) |
S988G |
probably damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,327,013 (GRCm39) |
|
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,269,035 (GRCm39) |
N127S |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,403,843 (GRCm39) |
D344V |
possibly damaging |
Het |
| Zmym5 |
T |
A |
14: 57,031,883 (GRCm39) |
K408N |
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 |
|
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 |
|
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'- GTCAAAATACTTGCTCTCTGCC -3'
(R):5'- CGTTGCTTCCGGTACACTTG -3'
Sequencing Primer
(F):5'- CCCTTCAGCATGACAAGAGGTG -3'
(R):5'- CGGTACACTTGGCAGGAACTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation