Incidental Mutation 'R6250:Disp2'
| ID |
505892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp2
|
| Ensembl Gene |
ENSMUSG00000040035 |
| Gene Name |
dispatched RND transporter family member 2 |
| Synonyms |
B230210L08Rik, DispB |
| MMRRC Submission |
044367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R6250 (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 T
at 118621247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 660
(I660F)
|
| 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: I660F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: I660F
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (60/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
T |
C |
2: 150,681,667 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,030 (GRCm39) |
V929A |
possibly damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,887,514 (GRCm39) |
F49S |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,799,736 (GRCm39) |
H801R |
probably benign |
Het |
| B430218F22Rik |
A |
G |
13: 118,523,944 (GRCm39) |
|
probably benign |
Het |
| Ccnd3 |
T |
A |
17: 47,908,487 (GRCm39) |
L186* |
probably null |
Het |
| Cnbd1 |
T |
A |
4: 19,098,255 (GRCm39) |
Q55L |
probably benign |
Het |
| Commd10 |
A |
G |
18: 47,096,755 (GRCm39) |
E54G |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,522,907 (GRCm39) |
V151A |
probably benign |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eef1a2 |
A |
G |
2: 180,792,853 (GRCm39) |
F211L |
possibly damaging |
Het |
| Epb41 |
A |
T |
4: 131,717,184 (GRCm39) |
F323L |
probably damaging |
Het |
| Eps8l3 |
A |
T |
3: 107,797,781 (GRCm39) |
I403F |
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,203,209 (GRCm39) |
V282D |
probably damaging |
Het |
| Faim |
A |
T |
9: 98,874,176 (GRCm39) |
M1L |
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,619,543 (GRCm39) |
F111L |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,850,139 (GRCm39) |
G1195D |
probably damaging |
Het |
| Glrx |
A |
T |
13: 75,988,229 (GRCm39) |
I48F |
probably damaging |
Het |
| Gucy2g |
A |
T |
19: 55,205,856 (GRCm39) |
L668Q |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,477,561 (GRCm39) |
D2828G |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,503 (GRCm39) |
V1367A |
probably benign |
Het |
| Hrob |
A |
G |
11: 102,145,888 (GRCm39) |
T55A |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,769,351 (GRCm39) |
V147A |
possibly damaging |
Het |
| Jchain |
T |
C |
5: 88,674,034 (GRCm39) |
T37A |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,298,100 (GRCm39) |
V1034A |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,211,989 (GRCm39) |
N216I |
probably damaging |
Het |
| Mfsd4b1 |
T |
C |
10: 39,879,106 (GRCm39) |
S264G |
possibly damaging |
Het |
| Mxra8 |
G |
T |
4: 155,925,546 (GRCm39) |
R82L |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,625 (GRCm39) |
I406N |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,363 (GRCm39) |
L18P |
possibly damaging |
Het |
| Or2y11 |
A |
T |
11: 49,442,711 (GRCm39) |
I46F |
probably damaging |
Het |
| Or5h23 |
G |
A |
16: 58,906,195 (GRCm39) |
S217F |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 136,016,189 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,426 (GRCm39) |
R222G |
probably benign |
Het |
| Pik3cb |
A |
C |
9: 98,976,651 (GRCm39) |
F149V |
probably benign |
Het |
| Plscr4 |
G |
A |
9: 92,366,881 (GRCm39) |
R165Q |
possibly damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,276,403 (GRCm39) |
V34E |
probably damaging |
Het |
| Prpf8 |
T |
G |
11: 75,384,334 (GRCm39) |
S659R |
possibly damaging |
Het |
| Ptprd |
A |
G |
4: 76,047,232 (GRCm39) |
S342P |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,794,755 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
T |
G |
17: 56,984,208 (GRCm39) |
|
probably null |
Het |
| Rassf7 |
A |
G |
7: 140,797,156 (GRCm39) |
E123G |
probably damaging |
Het |
| Rcor1 |
G |
T |
12: 111,078,311 (GRCm39) |
A469S |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,785,196 (GRCm39) |
P524Q |
probably damaging |
Het |
| Rnf44 |
A |
T |
13: 54,829,920 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
C |
2: 119,505,658 (GRCm39) |
V37A |
unknown |
Het |
| Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,901,217 (GRCm39) |
T817A |
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,390,471 (GRCm39) |
E506G |
unknown |
Het |
| Slc30a8 |
G |
A |
15: 52,198,545 (GRCm39) |
R330Q |
probably benign |
Het |
| Snx22 |
C |
A |
9: 65,976,923 (GRCm39) |
E14* |
probably null |
Het |
| Spata31d1a |
A |
G |
13: 59,849,615 (GRCm39) |
S838P |
possibly damaging |
Het |
| Sprr4 |
G |
T |
3: 92,407,770 (GRCm39) |
Q11K |
unknown |
Het |
| Trpm3 |
A |
G |
19: 22,887,418 (GRCm39) |
N839S |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,974,947 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
T |
C |
1: 37,090,966 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,552,893 (GRCm39) |
T414A |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (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 |
|
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 |
|
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'- ATGAGCGCTACTTGGCTCAC -3'
(R):5'- AGGGGATCACTAGTGTCCAC -3'
Sequencing Primer
(F):5'- CTACTTGGCTCACGGCTG -3'
(R):5'- ACTAGTGTCCACTGGCAGGATTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation