Incidental Mutation 'R4697:Disp2'
| ID |
355752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp2
|
| Ensembl Gene |
ENSMUSG00000040035 |
| Gene Name |
dispatched RND tramsporter family member 2 |
| Synonyms |
B230210L08Rik, DispB |
| MMRRC Submission |
041947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R4697 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118779719-118811293 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 118791684 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 966
(E966*)
|
| 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: E966*
|
| SMART Domains |
Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: E966*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (75/78) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624J02Rik |
T |
A |
7: 118,791,448 (GRCm38) |
I455N |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,638,284 (GRCm38) |
M1T |
probably null |
Het |
| Aatf |
T |
A |
11: 84,449,138 (GRCm38) |
D449V |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,721,944 (GRCm38) |
|
probably benign |
Het |
| BC005561 |
A |
G |
5: 104,522,240 (GRCm38) |
K1543E |
probably benign |
Het |
| Bicc1 |
T |
A |
10: 70,953,484 (GRCm38) |
I366F |
possibly damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,649,749 (GRCm38) |
S184P |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,525,485 (GRCm38) |
V401A |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 121,873,753 (GRCm38) |
T540A |
probably damaging |
Het |
| Dpp7 |
A |
G |
2: 25,354,919 (GRCm38) |
Y209H |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,449,487 (GRCm38) |
F277Y |
probably damaging |
Het |
| Dtx1 |
A |
T |
5: 120,694,408 (GRCm38) |
|
probably null |
Het |
| Ear-ps2 |
G |
A |
14: 44,047,060 (GRCm38) |
|
noncoding transcript |
Het |
| Ednra |
T |
C |
8: 77,664,995 (GRCm38) |
H422R |
probably benign |
Het |
| Erlec1 |
T |
A |
11: 30,952,640 (GRCm38) |
I67F |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,348,558 (GRCm38) |
|
probably benign |
Het |
| Gata5 |
A |
T |
2: 180,327,379 (GRCm38) |
C345* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,328,274 (GRCm38) |
V47A |
probably damaging |
Het |
| Gm9762 |
T |
A |
3: 78,966,550 (GRCm38) |
|
noncoding transcript |
Het |
| Gnas |
A |
T |
2: 174,298,080 (GRCm38) |
D14V |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 31,017,329 (GRCm38) |
S53G |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,548,466 (GRCm38) |
V527M |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,694,187 (GRCm38) |
L281* |
probably null |
Het |
| Kif16b |
T |
G |
2: 142,690,694 (GRCm38) |
Y1175S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,576,846 (GRCm38) |
S204P |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,778,734 (GRCm38) |
I320N |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,708,147 (GRCm38) |
R693Q |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 71,025,326 (GRCm38) |
K62E |
possibly damaging |
Het |
| Mlc1 |
A |
G |
15: 88,974,777 (GRCm38) |
C102R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,857,361 (GRCm38) |
I1348T |
unknown |
Het |
| Myh7b |
A |
G |
2: 155,629,322 (GRCm38) |
E1130G |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,901,386 (GRCm38) |
T52A |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,320,521 (GRCm38) |
V379L |
probably benign |
Het |
| Olfr1231 |
C |
A |
2: 89,302,902 (GRCm38) |
S230I |
possibly damaging |
Het |
| Olfr1231 |
T |
A |
2: 89,302,903 (GRCm38) |
S230C |
probably damaging |
Het |
| Olfr1448 |
C |
T |
19: 12,919,934 (GRCm38) |
C125Y |
probably damaging |
Het |
| Olfr1465 |
A |
T |
19: 13,313,717 (GRCm38) |
D189E |
probably benign |
Het |
| Olfr288 |
G |
A |
15: 98,186,868 (GRCm38) |
R310W |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,717,208 (GRCm38) |
Y756F |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,959,241 (GRCm38) |
Y284N |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,126,347 (GRCm38) |
V1367A |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,375,071 (GRCm38) |
N484K |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 78,961,171 (GRCm38) |
V572I |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,787,183 (GRCm38) |
S1005G |
probably benign |
Het |
| Radil |
G |
T |
5: 142,486,801 (GRCm38) |
D951E |
probably benign |
Het |
| Ripk1 |
C |
T |
13: 34,027,942 (GRCm38) |
R352* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,212,747 (GRCm38) |
F4081L |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,315,085 (GRCm38) |
V11A |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,934,587 (GRCm38) |
F536I |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,638,284 (GRCm38) |
L381P |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,052,641 (GRCm38) |
P71L |
probably benign |
Het |
| Spns1 |
T |
A |
7: 126,377,037 (GRCm38) |
D14V |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 95,986,018 (GRCm38) |
I417F |
possibly damaging |
Het |
| Tas2r113 |
T |
A |
6: 132,893,516 (GRCm38) |
M169K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,705,681 (GRCm38) |
N567K |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,395,461 (GRCm38) |
R76Q |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,853,791 (GRCm38) |
V1340A |
probably benign |
Het |
| Tspan18 |
A |
T |
2: 93,312,030 (GRCm38) |
|
probably null |
Het |
| Txndc11 |
C |
T |
16: 11,084,314 (GRCm38) |
V679I |
probably damaging |
Het |
| Usf1 |
G |
T |
1: 171,416,964 (GRCm38) |
G144V |
possibly damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,454,452 (GRCm38) |
Y103C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,741,826 (GRCm38) |
I713F |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 87,037,960 (GRCm38) |
I850F |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 25,855,363 (GRCm38) |
R676H |
probably benign |
Het |
| Zfp867 |
G |
A |
11: 59,463,661 (GRCm38) |
R281W |
probably damaging |
Het |
| Zfp939 |
T |
C |
7: 39,472,942 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Disp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Disp2
|
APN |
2 |
118,786,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00970:Disp2
|
APN |
2 |
118,791,793 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01790:Disp2
|
APN |
2 |
118,790,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01809:Disp2
|
APN |
2 |
118,787,264 (GRCm38) |
splice site |
probably benign |
|
|
IGL02069:Disp2
|
APN |
2 |
118,790,680 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02140:Disp2
|
APN |
2 |
118,790,869 (GRCm38) |
missense |
probably benign |
|
|
IGL02143:Disp2
|
APN |
2 |
118,789,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02155:Disp2
|
APN |
2 |
118,791,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02884:Disp2
|
APN |
2 |
118,787,551 (GRCm38) |
splice site |
probably benign |
|
|
IGL03113:Disp2
|
APN |
2 |
118,790,778 (GRCm38) |
splice site |
probably null |
|
|
IGL03194:Disp2
|
APN |
2 |
118,787,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Disp2
|
UTSW |
2 |
118,787,644 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0109:Disp2
|
UTSW |
2 |
118,791,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0126:Disp2
|
UTSW |
2 |
118,790,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0603:Disp2
|
UTSW |
2 |
118,792,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0610:Disp2
|
UTSW |
2 |
118,792,236 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0639:Disp2
|
UTSW |
2 |
118,790,844 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R0673:Disp2
|
UTSW |
2 |
118,790,844 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R0755:Disp2
|
UTSW |
2 |
118,789,762 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0781:Disp2
|
UTSW |
2 |
118,790,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1110:Disp2
|
UTSW |
2 |
118,790,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1148:Disp2
|
UTSW |
2 |
118,806,418 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1148:Disp2
|
UTSW |
2 |
118,806,418 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1243:Disp2
|
UTSW |
2 |
118,791,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1587:Disp2
|
UTSW |
2 |
118,791,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1739:Disp2
|
UTSW |
2 |
118,791,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1771:Disp2
|
UTSW |
2 |
118,791,297 (GRCm38) |
nonsense |
probably null |
|
|
R1781:Disp2
|
UTSW |
2 |
118,792,561 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1918:Disp2
|
UTSW |
2 |
118,791,927 (GRCm38) |
missense |
probably benign |
|
|
R1956:Disp2
|
UTSW |
2 |
118,792,223 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2167:Disp2
|
UTSW |
2 |
118,791,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2206:Disp2
|
UTSW |
2 |
118,792,244 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4031:Disp2
|
UTSW |
2 |
118,791,880 (GRCm38) |
missense |
probably benign |
0.27 |
|
R4617:Disp2
|
UTSW |
2 |
118,790,162 (GRCm38) |
missense |
probably benign |
|
|
R4656:Disp2
|
UTSW |
2 |
118,790,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Disp2
|
UTSW |
2 |
118,792,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4696:Disp2
|
UTSW |
2 |
118,791,684 (GRCm38) |
nonsense |
probably null |
|
|
R4738:Disp2
|
UTSW |
2 |
118,790,326 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4834:Disp2
|
UTSW |
2 |
118,792,504 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4914:Disp2
|
UTSW |
2 |
118,790,454 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4915:Disp2
|
UTSW |
2 |
118,790,454 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4918:Disp2
|
UTSW |
2 |
118,790,454 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5045:Disp2
|
UTSW |
2 |
118,792,062 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5208:Disp2
|
UTSW |
2 |
118,791,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5303:Disp2
|
UTSW |
2 |
118,810,848 (GRCm38) |
unclassified |
probably benign |
|
|
R5350:Disp2
|
UTSW |
2 |
118,787,575 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5355:Disp2
|
UTSW |
2 |
118,786,911 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6011:Disp2
|
UTSW |
2 |
118,790,820 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6031:Disp2
|
UTSW |
2 |
118,789,794 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6031:Disp2
|
UTSW |
2 |
118,789,794 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6139:Disp2
|
UTSW |
2 |
118,790,662 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6169:Disp2
|
UTSW |
2 |
118,791,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6187:Disp2
|
UTSW |
2 |
118,792,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6209:Disp2
|
UTSW |
2 |
118,786,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6250:Disp2
|
UTSW |
2 |
118,790,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6392:Disp2
|
UTSW |
2 |
118,790,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7138:Disp2
|
UTSW |
2 |
118,786,880 (GRCm38) |
missense |
probably benign |
|
|
R7156:Disp2
|
UTSW |
2 |
118,791,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7230:Disp2
|
UTSW |
2 |
118,791,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7400:Disp2
|
UTSW |
2 |
118,791,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7460:Disp2
|
UTSW |
2 |
118,789,780 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7505:Disp2
|
UTSW |
2 |
118,791,088 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7542:Disp2
|
UTSW |
2 |
118,791,118 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7728:Disp2
|
UTSW |
2 |
118,791,480 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7757:Disp2
|
UTSW |
2 |
118,790,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7798:Disp2
|
UTSW |
2 |
118,791,879 (GRCm38) |
missense |
probably benign |
|
|
R7945:Disp2
|
UTSW |
2 |
118,792,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8013:Disp2
|
UTSW |
2 |
118,789,682 (GRCm38) |
nonsense |
probably null |
|
|
R8085:Disp2
|
UTSW |
2 |
118,786,971 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8179:Disp2
|
UTSW |
2 |
118,792,549 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8288:Disp2
|
UTSW |
2 |
118,790,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8345:Disp2
|
UTSW |
2 |
118,810,803 (GRCm38) |
missense |
unknown |
|
|
R8385:Disp2
|
UTSW |
2 |
118,790,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8700:Disp2
|
UTSW |
2 |
118,789,859 (GRCm38) |
nonsense |
probably null |
|
|
R8808:Disp2
|
UTSW |
2 |
118,790,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8880:Disp2
|
UTSW |
2 |
118,790,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8997:Disp2
|
UTSW |
2 |
118,786,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9022:Disp2
|
UTSW |
2 |
118,790,698 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9181:Disp2
|
UTSW |
2 |
118,786,912 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9660:Disp2
|
UTSW |
2 |
118,790,146 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Disp2
|
UTSW |
2 |
118,790,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Disp2
|
UTSW |
2 |
118,789,702 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGCAACTTGGAGCTGTAC -3'
(R):5'- TGGAAGGCAGCATGATCAC -3'
Sequencing Primer
(F):5'- ACTAGCCTTTGCCACACT -3'
(R):5'- GGCAGCATGATCACACCAGAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation