Incidental Mutation 'R7156:Disp2'
ID |
557280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
MMRRC Submission |
045257-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.889)
|
Stock # |
R7156 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 118622292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1008
(A1008V)
|
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: A1008V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: A1008V
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: 98.9%
|
Validation Efficiency |
100% (81/81) |
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 |
4930433I11Rik |
T |
C |
7: 40,643,282 (GRCm39) |
I317T |
possibly damaging |
Het |
Acsl5 |
G |
A |
19: 55,257,260 (GRCm39) |
|
probably null |
Het |
Ahrr |
G |
A |
13: 74,378,035 (GRCm39) |
T136I |
probably damaging |
Het |
AI597479 |
G |
A |
1: 43,150,261 (GRCm39) |
D124N |
probably damaging |
Het |
Arap2 |
G |
T |
5: 62,761,914 (GRCm39) |
A1604D |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Cadps2 |
T |
C |
6: 23,688,955 (GRCm39) |
N118S |
probably benign |
Het |
Caskin1 |
T |
A |
17: 24,719,657 (GRCm39) |
|
probably null |
Het |
Cc2d1a |
C |
T |
8: 84,862,389 (GRCm39) |
V684M |
possibly damaging |
Het |
Ccdc91 |
T |
C |
6: 147,435,676 (GRCm39) |
S87P |
possibly damaging |
Het |
Cdr2l |
A |
G |
11: 115,281,792 (GRCm39) |
Q99R |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,715,203 (GRCm39) |
L2066P |
possibly damaging |
Het |
Cep95 |
A |
C |
11: 106,700,050 (GRCm39) |
L313F |
possibly damaging |
Het |
Chst10 |
G |
A |
1: 38,913,088 (GRCm39) |
T63M |
probably damaging |
Het |
Clrn2 |
G |
A |
5: 45,611,258 (GRCm39) |
G36R |
probably damaging |
Het |
Cnn2 |
T |
G |
10: 79,830,349 (GRCm39) |
Y273* |
probably null |
Het |
Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,171,964 (GRCm39) |
T735A |
possibly damaging |
Het |
Dmrt3 |
A |
G |
19: 25,588,317 (GRCm39) |
D52G |
probably damaging |
Het |
Dmrta1 |
T |
G |
4: 89,576,700 (GRCm39) |
L52R |
probably damaging |
Het |
Dmrta2 |
A |
G |
4: 109,839,185 (GRCm39) |
T311A |
probably damaging |
Het |
Dnm1 |
T |
A |
2: 32,230,479 (GRCm39) |
N112Y |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,064,858 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
G |
5: 110,833,229 (GRCm39) |
F2034L |
unknown |
Het |
F12 |
G |
A |
13: 55,566,310 (GRCm39) |
A494V |
probably damaging |
Het |
Fbp2 |
A |
T |
13: 62,989,675 (GRCm39) |
F210L |
probably benign |
Het |
Fbxo31 |
T |
A |
8: 122,281,060 (GRCm39) |
Q362L |
possibly damaging |
Het |
Fkbp4 |
C |
T |
6: 128,412,787 (GRCm39) |
A95T |
probably benign |
Het |
Frmd6 |
T |
G |
12: 70,923,983 (GRCm39) |
C80W |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,813,085 (GRCm39) |
I3135V |
probably benign |
Het |
Garre1 |
G |
T |
7: 33,945,133 (GRCm39) |
N582K |
possibly damaging |
Het |
Guca2b |
T |
A |
4: 119,514,887 (GRCm39) |
E34V |
probably damaging |
Het |
Hdlbp |
G |
A |
1: 93,341,637 (GRCm39) |
T974I |
probably damaging |
Het |
Hsdl2 |
T |
A |
4: 59,617,653 (GRCm39) |
M460K |
possibly damaging |
Het |
Ift172 |
C |
T |
5: 31,429,419 (GRCm39) |
V581M |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,549,189 (GRCm39) |
K313R |
possibly damaging |
Het |
Ints4 |
T |
A |
7: 97,184,493 (GRCm39) |
|
probably null |
Het |
Iqca1l |
C |
T |
5: 24,757,648 (GRCm39) |
E150K |
probably benign |
Het |
Kif21b |
A |
C |
1: 136,075,562 (GRCm39) |
T230P |
probably damaging |
Het |
Kit |
A |
T |
5: 75,776,034 (GRCm39) |
Y272F |
probably benign |
Het |
Krt77 |
G |
A |
15: 101,773,931 (GRCm39) |
T241M |
probably benign |
Het |
Lce1j |
T |
A |
3: 92,696,491 (GRCm39) |
S96C |
unknown |
Het |
Marveld3 |
T |
A |
8: 110,674,820 (GRCm39) |
D332V |
probably damaging |
Het |
Matr3 |
G |
T |
18: 35,705,974 (GRCm39) |
V300F |
probably damaging |
Het |
Mical1 |
T |
A |
10: 41,361,253 (GRCm39) |
|
probably null |
Het |
Mslnl |
T |
A |
17: 25,962,184 (GRCm39) |
V194E |
probably benign |
Het |
Mug1 |
C |
A |
6: 121,857,864 (GRCm39) |
T1119K |
probably damaging |
Het |
Mug1 |
C |
T |
6: 121,861,302 (GRCm39) |
P1308S |
probably damaging |
Het |
Neb |
C |
A |
2: 52,195,295 (GRCm39) |
|
probably null |
Het |
Neo1 |
T |
A |
9: 58,810,206 (GRCm39) |
T1082S |
probably damaging |
Het |
Nkx6-2 |
C |
T |
7: 139,162,045 (GRCm39) |
|
probably null |
Het |
Or10g6 |
T |
C |
9: 39,934,526 (GRCm39) |
I279T |
probably benign |
Het |
Or8k27 |
T |
A |
2: 86,275,652 (GRCm39) |
I225L |
probably damaging |
Het |
Orc1 |
A |
T |
4: 108,452,656 (GRCm39) |
E177V |
probably benign |
Het |
Parp1 |
G |
A |
1: 180,426,629 (GRCm39) |
V924I |
possibly damaging |
Het |
Pax2 |
A |
T |
19: 44,777,298 (GRCm39) |
I165F |
probably benign |
Het |
Pnma2 |
C |
T |
14: 67,153,980 (GRCm39) |
P135S |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,247,420 (GRCm39) |
I718T |
probably damaging |
Het |
Rbm25 |
T |
A |
12: 83,710,965 (GRCm39) |
D359E |
unknown |
Het |
Rgs3 |
T |
C |
4: 62,535,363 (GRCm39) |
L194P |
probably damaging |
Het |
Serpinb6b |
A |
G |
13: 33,155,598 (GRCm39) |
I104V |
probably benign |
Het |
Smg9 |
A |
G |
7: 24,120,286 (GRCm39) |
D420G |
probably benign |
Het |
Smpd1 |
C |
T |
7: 105,203,693 (GRCm39) |
|
probably benign |
Het |
Snx17 |
T |
A |
5: 31,354,692 (GRCm39) |
M318K |
probably damaging |
Het |
Spata31e5 |
A |
T |
1: 28,815,848 (GRCm39) |
M728K |
possibly damaging |
Het |
Stard10 |
G |
A |
7: 100,995,258 (GRCm39) |
D337N |
probably damaging |
Het |
Tex14 |
A |
G |
11: 87,375,545 (GRCm39) |
T103A |
probably damaging |
Het |
Tle1 |
A |
G |
4: 72,088,953 (GRCm39) |
S97P |
probably benign |
Het |
Tnfrsf8 |
T |
A |
4: 145,041,654 (GRCm39) |
M1L |
unknown |
Het |
Traf3ip2 |
T |
C |
10: 39,502,173 (GRCm39) |
L107P |
possibly damaging |
Het |
Trpc7 |
A |
T |
13: 56,937,579 (GRCm39) |
S626T |
possibly damaging |
Het |
Ubl7 |
T |
A |
9: 57,837,039 (GRCm39) |
I350N |
probably damaging |
Het |
Ubr3 |
T |
A |
2: 69,851,967 (GRCm39) |
I1878N |
probably damaging |
Het |
Usp24 |
G |
T |
4: 106,245,116 (GRCm39) |
|
probably null |
Het |
Vcan |
A |
T |
13: 89,837,229 (GRCm39) |
S2772T |
possibly damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,686,851 (GRCm39) |
V744A |
probably damaging |
Het |
Wbp2nl |
T |
C |
15: 82,189,903 (GRCm39) |
S32P |
probably damaging |
Het |
Wwc1 |
A |
G |
11: 35,788,201 (GRCm39) |
|
probably null |
Het |
Zfp629 |
C |
T |
7: 127,211,463 (GRCm39) |
W115* |
probably null |
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 |
|
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'- CAGTCTGTTCTCTGTGGCAG -3'
(R):5'- AGGATCTGGCCACAGTTCTTTTC -3'
Sequencing Primer
(F):5'- CTCTGTGGCAGCTGTGG -3'
(R):5'- GTTCTTTTCTGGCCCGAAGAAACAG -3'
|
Posted On |
2019-06-26 |