Incidental Mutation 'R7138:Disp2'
ID |
553168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp2
|
Ensembl Gene |
ENSMUSG00000040035 |
Gene Name |
dispatched RND transporter family member 2 |
Synonyms |
B230210L08Rik, DispB |
MMRRC Submission |
045249-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.896)
|
Stock # |
R7138 (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 A
at 118617361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 118
(H118Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037547]
[ENSMUST00000063975]
[ENSMUST00000110843]
[ENSMUST00000110846]
|
AlphaFold |
Q8CIP5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037547
AA Change: H118Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037136 Gene: ENSMUSG00000040035 AA Change: H118Q
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
AA Change: H118Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000070031 Gene: ENSMUSG00000040035 AA Change: H118Q
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
AA Change: H118Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106467 Gene: ENSMUSG00000040035 AA Change: H118Q
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
AA Change: H118Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106470 Gene: ENSMUSG00000040035 AA Change: H118Q
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,899,113 (GRCm39) |
C698* |
probably null |
Het |
Acacb |
G |
A |
5: 114,345,387 (GRCm39) |
V947M |
probably benign |
Het |
Acadsb |
T |
G |
7: 131,042,968 (GRCm39) |
L343R |
probably damaging |
Het |
Adgrf2 |
C |
T |
17: 43,021,874 (GRCm39) |
E317K |
probably damaging |
Het |
Agap2 |
A |
G |
10: 126,923,154 (GRCm39) |
T663A |
unknown |
Het |
Akap8 |
A |
T |
17: 32,535,515 (GRCm39) |
F166L |
possibly damaging |
Het |
Ankrd17 |
A |
T |
5: 90,390,836 (GRCm39) |
M2278K |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,705,242 (GRCm39) |
S148P |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,933,835 (GRCm39) |
E266G |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,581,187 (GRCm39) |
K380E |
probably damaging |
Het |
Catsper2 |
T |
C |
2: 121,227,544 (GRCm39) |
D542G |
possibly damaging |
Het |
Cbln4 |
C |
A |
2: 171,884,095 (GRCm39) |
D42Y |
probably damaging |
Het |
Ccn6 |
T |
A |
10: 39,034,473 (GRCm39) |
Q43L |
possibly damaging |
Het |
Cd5 |
C |
T |
19: 10,697,668 (GRCm39) |
R437Q |
probably damaging |
Het |
Ceacam18 |
G |
C |
7: 43,288,706 (GRCm39) |
E152D |
possibly damaging |
Het |
Chd8 |
A |
G |
14: 52,451,955 (GRCm39) |
S1347P |
possibly damaging |
Het |
Chodl |
T |
G |
16: 78,738,335 (GRCm39) |
I101R |
probably damaging |
Het |
Clk4 |
T |
G |
11: 51,168,759 (GRCm39) |
F377L |
probably damaging |
Het |
Cntnap3 |
C |
T |
13: 64,929,539 (GRCm39) |
|
probably null |
Het |
Dab2 |
A |
G |
15: 6,458,780 (GRCm39) |
S231G |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,900,009 (GRCm39) |
F3869S |
probably damaging |
Het |
Edil3 |
C |
T |
13: 89,279,847 (GRCm39) |
T175I |
probably damaging |
Het |
Eif1ad18 |
T |
G |
12: 88,050,648 (GRCm39) |
I61R |
probably damaging |
Het |
Fap |
A |
G |
2: 62,372,522 (GRCm39) |
S319P |
probably benign |
Het |
Frmpd2 |
T |
A |
14: 33,293,761 (GRCm39) |
V1309E |
probably benign |
Het |
Galntl5 |
T |
A |
5: 25,394,842 (GRCm39) |
S70T |
probably benign |
Het |
Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
Gna15 |
G |
A |
10: 81,343,881 (GRCm39) |
T260M |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,705,342 (GRCm39) |
I531T |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,135,417 (GRCm39) |
V238A |
probably damaging |
Het |
Htr2a |
A |
G |
14: 74,943,182 (GRCm39) |
Y254C |
probably damaging |
Het |
Inpp5b |
A |
G |
4: 124,679,065 (GRCm39) |
R491G |
probably damaging |
Het |
Kcnt2 |
C |
T |
1: 140,523,778 (GRCm39) |
L1093F |
possibly damaging |
Het |
Kcp |
C |
A |
6: 29,491,861 (GRCm39) |
E922* |
probably null |
Het |
Lrp2 |
G |
A |
2: 69,296,089 (GRCm39) |
A3340V |
possibly damaging |
Het |
Lrrn1 |
T |
G |
6: 107,545,336 (GRCm39) |
V378G |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Net1 |
G |
A |
13: 3,938,510 (GRCm39) |
R126C |
probably damaging |
Het |
Nipsnap3a |
T |
C |
4: 52,993,978 (GRCm39) |
C20R |
probably benign |
Het |
Nxpe2 |
C |
T |
9: 48,232,006 (GRCm39) |
C317Y |
probably damaging |
Het |
Or10v9 |
T |
A |
19: 11,832,652 (GRCm39) |
I222F |
probably damaging |
Het |
Or52h1 |
T |
C |
7: 103,829,504 (GRCm39) |
Y37C |
probably damaging |
Het |
Or8b8 |
T |
C |
9: 37,809,360 (GRCm39) |
I220T |
probably damaging |
Het |
Or8g54 |
T |
G |
9: 39,707,086 (GRCm39) |
Y138* |
probably null |
Het |
Orm1 |
T |
A |
4: 63,262,949 (GRCm39) |
W39R |
probably damaging |
Het |
Pds5b |
A |
T |
5: 150,724,142 (GRCm39) |
K1240* |
probably null |
Het |
Pdss1 |
T |
A |
2: 22,802,681 (GRCm39) |
H173Q |
probably damaging |
Het |
Pebp1 |
A |
G |
5: 117,423,882 (GRCm39) |
W84R |
probably damaging |
Het |
Pla2g4e |
C |
T |
2: 120,001,759 (GRCm39) |
C630Y |
probably damaging |
Het |
Plaat3 |
T |
A |
19: 7,556,550 (GRCm39) |
V117E |
probably damaging |
Het |
Plekho2 |
G |
T |
9: 65,463,635 (GRCm39) |
Q405K |
probably benign |
Het |
Plppr2 |
T |
A |
9: 21,855,708 (GRCm39) |
V227E |
probably damaging |
Het |
Pphln1-ps1 |
T |
A |
16: 13,495,589 (GRCm39) |
D229E |
probably benign |
Het |
Rapgef4 |
T |
C |
2: 72,028,707 (GRCm39) |
S393P |
probably damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,737,900 (GRCm39) |
|
probably null |
Het |
Ripk3 |
C |
A |
14: 56,025,803 (GRCm39) |
R19L |
probably benign |
Het |
Rnase10 |
G |
T |
14: 51,247,167 (GRCm39) |
V182F |
probably damaging |
Het |
Rsf1 |
T |
A |
7: 97,319,002 (GRCm39) |
S917R |
|
Het |
Sephs2 |
T |
C |
7: 126,872,187 (GRCm39) |
N302S |
possibly damaging |
Het |
Slc13a2 |
C |
T |
11: 78,289,950 (GRCm39) |
V455M |
possibly damaging |
Het |
Slc30a2 |
A |
T |
4: 134,071,429 (GRCm39) |
D54V |
probably benign |
Het |
Slco6c1 |
T |
C |
1: 97,047,706 (GRCm39) |
E199G |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,436,247 (GRCm39) |
M256K |
probably benign |
Het |
Spag4 |
T |
A |
2: 155,908,519 (GRCm39) |
S150T |
probably benign |
Het |
Spon1 |
T |
A |
7: 113,635,945 (GRCm39) |
C720S |
probably damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,123,356 (GRCm39) |
S166P |
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,937,113 (GRCm39) |
I65T |
probably damaging |
Het |
Tmem176a |
T |
A |
6: 48,820,953 (GRCm39) |
V141D |
probably damaging |
Het |
Tmem268 |
G |
A |
4: 63,480,687 (GRCm39) |
|
probably benign |
Het |
Tonsl |
A |
G |
15: 76,518,976 (GRCm39) |
V519A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,612,376 (GRCm39) |
P17204S |
possibly damaging |
Het |
Wrap53 |
T |
A |
11: 69,454,694 (GRCm39) |
D225V |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,477,107 (GRCm39) |
A3241T |
possibly damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,372 (GRCm39) |
H47R |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,898,697 (GRCm39) |
R76G |
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 |
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 |
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'- ACAGGCAGGAACGCACTTTC -3'
(R):5'- TTGGTGATCCAGAACTCACCAAC -3'
Sequencing Primer
(F):5'- AACGCACTTTCCGGATGC -3'
(R):5'- GATAGATCAACTGTCTGCCCTAG -3'
|
Posted On |
2019-05-15 |