Incidental Mutation 'R6209:Disp2'
ID |
503308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
MMRRC Submission |
044343-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.896)
|
Stock # |
R6209 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118617402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 132
(L132P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037547]
[ENSMUST00000063975]
[ENSMUST00000110843]
[ENSMUST00000110846]
|
AlphaFold |
Q8CIP5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037547
AA Change: L132P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: L132P
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 damaging
Transcript: ENSMUST00000063975
AA Change: L132P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070031 Gene: ENSMUSG00000040035 AA Change: L132P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110843
AA Change: L132P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106467 Gene: ENSMUSG00000040035 AA Change: L132P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110846
AA Change: L132P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106470 Gene: ENSMUSG00000040035 AA Change: L132P
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: 98.6%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
T |
A |
1: 38,232,670 (GRCm39) |
M990L |
probably benign |
Het |
Agl |
A |
T |
3: 116,578,845 (GRCm39) |
Y429* |
probably null |
Het |
Ahnak |
A |
T |
19: 8,989,930 (GRCm39) |
K3738M |
probably damaging |
Het |
Amn |
G |
T |
12: 111,241,845 (GRCm39) |
V304L |
probably damaging |
Het |
Ap3s1 |
G |
A |
18: 46,912,318 (GRCm39) |
V113I |
probably benign |
Het |
Arhgef28 |
A |
T |
13: 98,065,917 (GRCm39) |
|
probably null |
Het |
Atad2 |
A |
G |
15: 57,981,811 (GRCm39) |
S18P |
probably damaging |
Het |
Bhmt1b |
C |
T |
18: 87,775,341 (GRCm39) |
A288V |
probably damaging |
Het |
C4b |
T |
A |
17: 34,960,061 (GRCm39) |
E305V |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,726,095 (GRCm39) |
S1401P |
possibly damaging |
Het |
Cblc |
A |
T |
7: 19,519,230 (GRCm39) |
V366D |
possibly damaging |
Het |
Cdk17 |
A |
T |
10: 93,044,093 (GRCm39) |
T11S |
probably benign |
Het |
Cenpc1 |
A |
G |
5: 86,181,509 (GRCm39) |
S619P |
probably benign |
Het |
Clec4d |
T |
G |
6: 123,247,488 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,165,677 (GRCm39) |
K528R |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,804,069 (GRCm39) |
V262A |
probably damaging |
Het |
Galnt17 |
T |
A |
5: 131,110,434 (GRCm39) |
M302L |
probably benign |
Het |
Gpn3 |
T |
C |
5: 122,520,175 (GRCm39) |
I243T |
probably benign |
Het |
Gpr160 |
T |
C |
3: 30,950,141 (GRCm39) |
V71A |
possibly damaging |
Het |
Gramd1b |
G |
T |
9: 40,244,946 (GRCm39) |
A154D |
probably damaging |
Het |
Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
H60b |
C |
A |
10: 22,163,043 (GRCm39) |
T206N |
probably benign |
Het |
Hydin |
A |
T |
8: 111,320,434 (GRCm39) |
I4493F |
probably benign |
Het |
Il19 |
C |
T |
1: 130,866,852 (GRCm39) |
E43K |
possibly damaging |
Het |
Ints2 |
A |
G |
11: 86,115,884 (GRCm39) |
Y782H |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,851,306 (GRCm39) |
I62N |
probably damaging |
Het |
Jph1 |
C |
A |
1: 17,167,810 (GRCm39) |
D7Y |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,726,852 (GRCm39) |
I62V |
probably damaging |
Het |
Map7 |
G |
A |
10: 20,152,026 (GRCm39) |
|
probably null |
Het |
Matk |
T |
G |
10: 81,095,422 (GRCm39) |
W81G |
probably damaging |
Het |
Matn4 |
T |
C |
2: 164,242,735 (GRCm39) |
Y121C |
probably damaging |
Het |
Mical2 |
G |
A |
7: 111,923,293 (GRCm39) |
|
probably null |
Het |
Miga2 |
T |
G |
2: 30,271,674 (GRCm39) |
Y399D |
probably damaging |
Het |
Mocos |
A |
T |
18: 24,799,672 (GRCm39) |
E302V |
probably benign |
Het |
Mrpl11 |
C |
T |
19: 5,014,743 (GRCm39) |
A172V |
probably damaging |
Het |
Mrpl48 |
A |
C |
7: 100,209,001 (GRCm39) |
Y108D |
probably damaging |
Het |
Mtr |
A |
G |
13: 12,205,278 (GRCm39) |
S1061P |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,026,155 (GRCm39) |
K1309* |
probably null |
Het |
Myom2 |
G |
A |
8: 15,154,173 (GRCm39) |
V704I |
possibly damaging |
Het |
Nars2 |
A |
G |
7: 96,706,728 (GRCm39) |
H413R |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,355,946 (GRCm39) |
L619P |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,362,817 (GRCm39) |
N983S |
probably damaging |
Het |
Nup210 |
A |
G |
6: 91,002,337 (GRCm39) |
V717A |
probably benign |
Het |
P4ha3 |
G |
T |
7: 99,966,292 (GRCm39) |
G479V |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Phf11a |
A |
G |
14: 59,525,028 (GRCm39) |
S59P |
probably damaging |
Het |
Phyhip |
G |
A |
14: 70,700,798 (GRCm39) |
S95N |
probably benign |
Het |
Ppat |
A |
G |
5: 77,065,993 (GRCm39) |
V375A |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,608,456 (GRCm39) |
E3086G |
probably damaging |
Het |
Psg22 |
A |
G |
7: 18,453,599 (GRCm39) |
E98G |
probably damaging |
Het |
Rabgap1 |
A |
T |
2: 37,453,610 (GRCm39) |
K1013* |
probably null |
Het |
Retreg3 |
C |
T |
11: 101,010,526 (GRCm39) |
G27D |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Sema6a |
A |
T |
18: 47,431,369 (GRCm39) |
|
probably null |
Het |
Septin10 |
T |
C |
10: 59,006,670 (GRCm39) |
E349G |
probably damaging |
Het |
Serpina1c |
A |
G |
12: 103,863,429 (GRCm39) |
V257A |
probably damaging |
Het |
Sgpp2 |
T |
A |
1: 78,367,119 (GRCm39) |
M84K |
probably damaging |
Het |
Shoc1 |
A |
G |
4: 59,043,869 (GRCm39) |
*1482R |
probably null |
Het |
Skint11 |
A |
G |
4: 114,101,907 (GRCm39) |
S116G |
possibly damaging |
Het |
Slc2a5 |
G |
A |
4: 150,227,557 (GRCm39) |
V459I |
probably benign |
Het |
Smarca2 |
T |
G |
19: 26,748,404 (GRCm39) |
Y126* |
probably null |
Het |
Stab2 |
T |
G |
10: 86,758,867 (GRCm39) |
N1024H |
possibly damaging |
Het |
Sting1 |
A |
T |
18: 35,869,155 (GRCm39) |
I178N |
probably damaging |
Het |
Svep1 |
A |
C |
4: 58,128,869 (GRCm39) |
F609L |
probably benign |
Het |
Tbc1d2 |
G |
A |
4: 46,614,068 (GRCm39) |
T671I |
probably damaging |
Het |
Thoc5 |
T |
C |
11: 4,855,697 (GRCm39) |
I82T |
probably damaging |
Het |
Tmem213 |
G |
T |
6: 38,092,517 (GRCm39) |
C83F |
probably damaging |
Het |
Topaz1 |
G |
A |
9: 122,579,570 (GRCm39) |
D827N |
possibly damaging |
Het |
Trappc10 |
C |
A |
10: 78,050,646 (GRCm39) |
G265V |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,539,808 (GRCm39) |
S26066P |
probably damaging |
Het |
Zfp292 |
G |
T |
4: 34,809,442 (GRCm39) |
Q1201K |
probably benign |
Het |
Zfp354a |
T |
A |
11: 50,951,815 (GRCm39) |
|
probably null |
Het |
Zfp418 |
T |
C |
7: 7,185,096 (GRCm39) |
V353A |
possibly damaging |
Het |
Zfp444 |
G |
A |
7: 6,192,948 (GRCm39) |
|
probably benign |
Het |
Zfp503 |
C |
A |
14: 22,035,778 (GRCm39) |
Q379H |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,088,462 (GRCm39) |
K764E |
probably 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 |
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'- AGAGGTAGGGCCAGTCTTTC -3'
(R):5'- ATCTCTCTTTGGTGATCCAGAACTC -3'
Sequencing Primer
(F):5'- TCTCTGTGCTCCCAGGAGTG -3'
(R):5'- TTTGGTGATCCAGAACTCACCAAC -3'
|
Posted On |
2018-02-27 |