Incidental Mutation 'R5218:Disp3'
ID |
403592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp3
|
Ensembl Gene |
ENSMUSG00000041544 |
Gene Name |
dispatched RND transporter family member 3 |
Synonyms |
G630052C06Rik, Ptchd2 |
MMRRC Submission |
042791-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5218 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
148324721-148372422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 148327333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1184
(S1184G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047720]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047720
AA Change: S1184G
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038490 Gene: ENSMUSG00000041544 AA Change: S1184G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
low complexity region
|
179 |
195 |
N/A |
INTRINSIC |
Pfam:Patched
|
362 |
735 |
2.2e-21 |
PFAM |
Pfam:MMPL
|
366 |
590 |
3.1e-14 |
PFAM |
Pfam:Sterol-sensing
|
435 |
588 |
1.1e-17 |
PFAM |
Pfam:Patched
|
1121 |
1301 |
1.6e-7 |
PFAM |
transmembrane domain
|
1314 |
1333 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0847 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,629,628 (GRCm39) |
N230K |
possibly damaging |
Het |
4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
Albfm1 |
A |
G |
5: 90,729,777 (GRCm39) |
K400R |
probably benign |
Het |
Amigo1 |
A |
G |
3: 108,095,086 (GRCm39) |
|
probably null |
Het |
Arhgap30 |
A |
T |
1: 171,236,328 (GRCm39) |
T901S |
probably benign |
Het |
Arpp21 |
T |
C |
9: 111,972,499 (GRCm39) |
D264G |
probably damaging |
Het |
Ccbe1 |
C |
T |
18: 66,216,229 (GRCm39) |
G165S |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,816,585 (GRCm39) |
D1786G |
probably damaging |
Het |
Cntn1 |
T |
C |
15: 92,237,430 (GRCm39) |
L1008P |
unknown |
Het |
Dclk2 |
T |
A |
3: 86,712,985 (GRCm39) |
D489V |
probably damaging |
Het |
Dip2b |
T |
A |
15: 100,052,177 (GRCm39) |
D259E |
probably benign |
Het |
Dync1li2 |
C |
T |
8: 105,169,179 (GRCm39) |
W36* |
probably null |
Het |
Ece2 |
A |
T |
16: 20,437,290 (GRCm39) |
M211L |
probably benign |
Het |
Edn3 |
C |
T |
2: 174,603,345 (GRCm39) |
A31V |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,750,982 (GRCm39) |
Q266R |
possibly damaging |
Het |
Fabp1 |
C |
A |
6: 71,176,944 (GRCm39) |
Q12K |
probably damaging |
Het |
Flt1 |
G |
A |
5: 147,618,738 (GRCm39) |
T199M |
probably damaging |
Het |
Galns |
T |
A |
8: 123,325,328 (GRCm39) |
I275F |
probably damaging |
Het |
Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
Gatb |
A |
G |
3: 85,511,751 (GRCm39) |
I169V |
probably benign |
Het |
Gpd1 |
T |
A |
15: 99,618,011 (GRCm39) |
I109N |
probably damaging |
Het |
Gps2 |
T |
C |
11: 69,807,121 (GRCm39) |
|
probably null |
Het |
Hsd17b12 |
T |
C |
2: 93,913,608 (GRCm39) |
N99D |
probably benign |
Het |
Itga3 |
A |
T |
11: 94,953,574 (GRCm39) |
V256E |
probably benign |
Het |
Kcnma1 |
T |
A |
14: 23,513,253 (GRCm39) |
Y527F |
probably damaging |
Het |
Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,384,488 (GRCm39) |
E3580D |
probably damaging |
Het |
Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
Medag |
A |
T |
5: 149,345,719 (GRCm39) |
|
probably benign |
Het |
Ncdn |
C |
A |
4: 126,644,603 (GRCm39) |
R73L |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,170,034 (GRCm39) |
V339A |
probably benign |
Het |
Ocln |
G |
T |
13: 100,642,822 (GRCm39) |
P420Q |
probably damaging |
Het |
Or5ac24 |
A |
T |
16: 59,165,270 (GRCm39) |
S265T |
probably benign |
Het |
Pank4 |
C |
T |
4: 155,064,185 (GRCm39) |
T681I |
probably benign |
Het |
Pcdhb6 |
T |
A |
18: 37,467,388 (GRCm39) |
V103E |
possibly damaging |
Het |
Pcsk6 |
T |
C |
7: 65,675,036 (GRCm39) |
F469S |
probably benign |
Het |
Phrf1 |
A |
G |
7: 140,841,214 (GRCm39) |
N1353S |
possibly damaging |
Het |
Pou6f2 |
A |
G |
13: 18,326,586 (GRCm39) |
I72T |
probably damaging |
Het |
Ppig |
T |
C |
2: 69,563,127 (GRCm39) |
|
probably benign |
Het |
Ptprh |
T |
C |
7: 4,600,919 (GRCm39) |
S153G |
probably benign |
Het |
Rab11b |
T |
C |
17: 33,967,924 (GRCm39) |
N91S |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Slc2a9 |
A |
G |
5: 38,610,524 (GRCm39) |
S92P |
probably damaging |
Het |
Slit3 |
G |
A |
11: 35,575,002 (GRCm39) |
|
probably null |
Het |
Sox5 |
T |
C |
6: 143,906,616 (GRCm39) |
I280V |
possibly damaging |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tdrd9 |
C |
T |
12: 112,029,909 (GRCm39) |
|
probably benign |
Het |
Tmem273 |
T |
A |
14: 32,538,793 (GRCm39) |
|
probably null |
Het |
Tmem74 |
A |
T |
15: 43,730,640 (GRCm39) |
N134K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Txnl1 |
T |
G |
18: 63,812,538 (GRCm39) |
K85N |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,451,341 (GRCm39) |
M409K |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,274,812 (GRCm39) |
D53G |
probably damaging |
Het |
Wnt10a |
G |
A |
1: 74,832,754 (GRCm39) |
V116I |
probably benign |
Het |
Xpot |
T |
A |
10: 121,455,043 (GRCm39) |
D33V |
probably damaging |
Het |
Znrf3 |
C |
T |
11: 5,231,519 (GRCm39) |
V665M |
possibly damaging |
Het |
|
Other mutations in Disp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Disp3
|
APN |
4 |
148,325,991 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01065:Disp3
|
APN |
4 |
148,345,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01800:Disp3
|
APN |
4 |
148,334,258 (GRCm39) |
nonsense |
probably null |
|
IGL01947:Disp3
|
APN |
4 |
148,344,976 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02510:Disp3
|
APN |
4 |
148,337,158 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02573:Disp3
|
APN |
4 |
148,355,906 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02728:Disp3
|
APN |
4 |
148,356,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02931:Disp3
|
APN |
4 |
148,333,658 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0164:Disp3
|
UTSW |
4 |
148,338,708 (GRCm39) |
missense |
probably damaging |
0.96 |
R0164:Disp3
|
UTSW |
4 |
148,338,708 (GRCm39) |
missense |
probably damaging |
0.96 |
R0257:Disp3
|
UTSW |
4 |
148,335,211 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0409:Disp3
|
UTSW |
4 |
148,356,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R0557:Disp3
|
UTSW |
4 |
148,325,861 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0576:Disp3
|
UTSW |
4 |
148,326,047 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1495:Disp3
|
UTSW |
4 |
148,334,282 (GRCm39) |
missense |
probably benign |
0.00 |
R1526:Disp3
|
UTSW |
4 |
148,344,373 (GRCm39) |
missense |
probably benign |
0.00 |
R1791:Disp3
|
UTSW |
4 |
148,325,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R1856:Disp3
|
UTSW |
4 |
148,356,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R1987:Disp3
|
UTSW |
4 |
148,343,210 (GRCm39) |
missense |
probably damaging |
0.97 |
R2030:Disp3
|
UTSW |
4 |
148,344,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Disp3
|
UTSW |
4 |
148,356,059 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2373:Disp3
|
UTSW |
4 |
148,343,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Disp3
|
UTSW |
4 |
148,325,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R3731:Disp3
|
UTSW |
4 |
148,337,284 (GRCm39) |
missense |
probably benign |
0.03 |
R4359:Disp3
|
UTSW |
4 |
148,356,389 (GRCm39) |
missense |
probably benign |
0.03 |
R4762:Disp3
|
UTSW |
4 |
148,356,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R4950:Disp3
|
UTSW |
4 |
148,342,583 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4975:Disp3
|
UTSW |
4 |
148,328,673 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5523:Disp3
|
UTSW |
4 |
148,342,554 (GRCm39) |
missense |
probably benign |
0.14 |
R5556:Disp3
|
UTSW |
4 |
148,342,614 (GRCm39) |
missense |
probably benign |
0.14 |
R5857:Disp3
|
UTSW |
4 |
148,333,640 (GRCm39) |
missense |
probably benign |
0.01 |
R5933:Disp3
|
UTSW |
4 |
148,325,770 (GRCm39) |
nonsense |
probably null |
|
R5994:Disp3
|
UTSW |
4 |
148,338,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6362:Disp3
|
UTSW |
4 |
148,338,765 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6813:Disp3
|
UTSW |
4 |
148,344,387 (GRCm39) |
missense |
probably benign |
0.09 |
R7211:Disp3
|
UTSW |
4 |
148,325,979 (GRCm39) |
missense |
probably damaging |
0.98 |
R7470:Disp3
|
UTSW |
4 |
148,345,527 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7535:Disp3
|
UTSW |
4 |
148,327,323 (GRCm39) |
missense |
probably damaging |
0.99 |
R8093:Disp3
|
UTSW |
4 |
148,354,973 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8357:Disp3
|
UTSW |
4 |
148,345,572 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8457:Disp3
|
UTSW |
4 |
148,345,572 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8506:Disp3
|
UTSW |
4 |
148,326,027 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9182:Disp3
|
UTSW |
4 |
148,354,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R9219:Disp3
|
UTSW |
4 |
148,334,317 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9680:Disp3
|
UTSW |
4 |
148,356,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R9696:Disp3
|
UTSW |
4 |
148,345,611 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1088:Disp3
|
UTSW |
4 |
148,356,200 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1176:Disp3
|
UTSW |
4 |
148,335,414 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Disp3
|
UTSW |
4 |
148,335,171 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Disp3
|
UTSW |
4 |
148,334,304 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Disp3
|
UTSW |
4 |
148,334,203 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Disp3
|
UTSW |
4 |
148,355,024 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCATCTGTCCTTAGGGG -3'
(R):5'- GGCATCCTGTAGGTGTGACATG -3'
Sequencing Primer
(F):5'- TGCCATTGTCCCAAGGTG -3'
(R):5'- ACATGTTGCTGTGTCTGCGTTC -3'
|
Posted On |
2016-07-22 |