Incidental Mutation 'R0784:Akp3'
ID |
76743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akp3
|
Ensembl Gene |
ENSMUSG00000036500 |
Gene Name |
alkaline phosphatase 3, intestine, not Mn requiring |
Synonyms |
IAP, Akp-3 |
MMRRC Submission |
038964-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.217)
|
Stock # |
R0784 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
87052695-87055634 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87055593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 547
(G547R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044878]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000044878
AA Change: G547R
|
SMART Domains |
Protein: ENSMUSP00000037497 Gene: ENSMUSG00000036500 AA Change: G547R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
alkPPc
|
53 |
487 |
1.92e-249 |
SMART |
low complexity region
|
503 |
524 |
N/A |
INTRINSIC |
low complexity region
|
533 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187662
|
Meta Mutation Damage Score |
0.0693 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.1%
|
Validation Efficiency |
97% (59/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014] PHENOTYPE: Mice homozygous for disruption of this gene show no gross abnormalities in appearance, behavior or fertility. They do display accelerated lipid absorption on a high fat diet leading to elevated plasma triglycerides and increased weight gain. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
T |
C |
14: 54,890,985 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
C |
T |
11: 50,558,830 (GRCm39) |
R182W |
probably damaging |
Het |
Ahr |
C |
T |
12: 35,558,141 (GRCm39) |
G293D |
possibly damaging |
Het |
Akna |
G |
T |
4: 63,295,125 (GRCm39) |
T1028K |
probably benign |
Het |
Aoc1l3 |
T |
A |
6: 48,964,235 (GRCm39) |
M81K |
possibly damaging |
Het |
Asic2 |
T |
A |
11: 80,784,815 (GRCm39) |
M324L |
possibly damaging |
Het |
Atf6 |
A |
G |
1: 170,537,516 (GRCm39) |
F635L |
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,864,380 (GRCm39) |
V195E |
probably damaging |
Het |
Bicd1 |
T |
A |
6: 149,414,861 (GRCm39) |
C525S |
probably damaging |
Het |
Cbfa2t3 |
A |
G |
8: 123,377,226 (GRCm39) |
|
probably benign |
Het |
Cd46 |
G |
A |
1: 194,774,502 (GRCm39) |
T11M |
possibly damaging |
Het |
Cecr2 |
A |
G |
6: 120,735,110 (GRCm39) |
H754R |
possibly damaging |
Het |
Clcn3 |
G |
T |
8: 61,382,237 (GRCm39) |
D450E |
probably benign |
Het |
Cobl |
T |
G |
11: 12,216,843 (GRCm39) |
|
probably benign |
Het |
Cyba |
T |
A |
8: 123,154,422 (GRCm39) |
T34S |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,911,426 (GRCm39) |
L187P |
probably damaging |
Het |
Dennd4c |
A |
T |
4: 86,763,145 (GRCm39) |
Q1817L |
probably benign |
Het |
Drosha |
T |
C |
15: 12,867,764 (GRCm39) |
|
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,169,130 (GRCm39) |
S34P |
probably damaging |
Het |
Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
Galnt11 |
A |
G |
5: 25,463,907 (GRCm39) |
D393G |
probably damaging |
Het |
Gm5435 |
T |
A |
12: 82,542,954 (GRCm39) |
|
noncoding transcript |
Het |
Gpr176 |
C |
T |
2: 118,203,533 (GRCm39) |
V46M |
possibly damaging |
Het |
Gpr85 |
T |
A |
6: 13,836,748 (GRCm39) |
H52L |
probably benign |
Het |
Grn |
T |
C |
11: 102,325,328 (GRCm39) |
M246T |
possibly damaging |
Het |
Hnrnpul2 |
T |
C |
19: 8,802,416 (GRCm39) |
F428L |
possibly damaging |
Het |
Hoxa13 |
G |
C |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,087,118 (GRCm39) |
D350G |
probably benign |
Het |
Kat2a |
C |
T |
11: 100,601,667 (GRCm39) |
M249I |
probably benign |
Het |
Klhl29 |
T |
C |
12: 5,131,251 (GRCm39) |
Y782C |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,515,893 (GRCm39) |
F2650Y |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,348,709 (GRCm39) |
I754T |
probably benign |
Het |
LTO1 |
A |
T |
7: 144,473,014 (GRCm39) |
Y108F |
probably benign |
Het |
Mpl |
G |
A |
4: 118,303,603 (GRCm39) |
P472S |
possibly damaging |
Het |
Mtnr1b |
A |
G |
9: 15,774,081 (GRCm39) |
I326T |
probably benign |
Het |
Myh9 |
A |
G |
15: 77,661,209 (GRCm39) |
|
probably benign |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Myo9a |
A |
G |
9: 59,803,828 (GRCm39) |
|
probably benign |
Het |
Or2z2 |
T |
A |
11: 58,346,131 (GRCm39) |
I215F |
possibly damaging |
Het |
Or4ac1-ps1 |
T |
A |
2: 88,370,511 (GRCm39) |
|
noncoding transcript |
Het |
Pcsk5 |
T |
C |
19: 17,692,133 (GRCm39) |
M184V |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,306 (GRCm39) |
D1143V |
probably damaging |
Het |
Prr36 |
G |
T |
8: 4,263,771 (GRCm39) |
|
probably benign |
Het |
Rnf220 |
C |
A |
4: 117,135,195 (GRCm39) |
|
probably benign |
Het |
Senp3 |
A |
G |
11: 69,571,274 (GRCm39) |
L131P |
probably damaging |
Het |
Shc4 |
A |
C |
2: 125,499,416 (GRCm39) |
W354G |
probably benign |
Het |
Slc6a15 |
A |
G |
10: 103,252,661 (GRCm39) |
|
probably benign |
Het |
Smtnl2 |
T |
C |
11: 72,290,763 (GRCm39) |
D394G |
probably damaging |
Het |
Sry |
G |
T |
Y: 2,662,731 (GRCm39) |
Q310K |
unknown |
Het |
St7l |
A |
G |
3: 104,778,240 (GRCm39) |
M126V |
probably benign |
Het |
St8sia3 |
T |
C |
18: 64,404,772 (GRCm39) |
W350R |
probably damaging |
Het |
Stk35 |
A |
T |
2: 129,652,722 (GRCm39) |
K408* |
probably null |
Het |
Thsd7b |
T |
C |
1: 129,523,096 (GRCm39) |
|
probably benign |
Het |
Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
Ttf2 |
T |
C |
3: 100,870,026 (GRCm39) |
D349G |
probably benign |
Het |
Zfp386 |
T |
A |
12: 116,023,540 (GRCm39) |
C419* |
probably null |
Het |
Zfp541 |
A |
G |
7: 15,816,917 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Akp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01343:Akp3
|
APN |
1 |
87,054,858 (GRCm39) |
splice site |
probably benign |
|
IGL02146:Akp3
|
APN |
1 |
87,054,297 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02216:Akp3
|
APN |
1 |
87,055,372 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02677:Akp3
|
APN |
1 |
87,052,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02716:Akp3
|
APN |
1 |
87,053,201 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Akp3
|
APN |
1 |
87,054,091 (GRCm39) |
nonsense |
probably null |
|
IGL03099:Akp3
|
APN |
1 |
87,055,328 (GRCm39) |
missense |
probably benign |
0.14 |
R0458:Akp3
|
UTSW |
1 |
87,054,259 (GRCm39) |
nonsense |
probably null |
|
R0755:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
R0783:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
R1080:Akp3
|
UTSW |
1 |
87,054,723 (GRCm39) |
missense |
probably damaging |
0.99 |
R1120:Akp3
|
UTSW |
1 |
87,053,159 (GRCm39) |
missense |
probably damaging |
0.98 |
R1128:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
R1130:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
R1175:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
R1200:Akp3
|
UTSW |
1 |
87,052,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R1618:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
R1864:Akp3
|
UTSW |
1 |
87,055,489 (GRCm39) |
small deletion |
probably benign |
|
R2111:Akp3
|
UTSW |
1 |
87,054,607 (GRCm39) |
splice site |
probably null |
|
R4657:Akp3
|
UTSW |
1 |
87,053,556 (GRCm39) |
intron |
probably benign |
|
R5278:Akp3
|
UTSW |
1 |
87,052,888 (GRCm39) |
missense |
probably benign |
0.01 |
R5563:Akp3
|
UTSW |
1 |
87,053,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Akp3
|
UTSW |
1 |
87,055,485 (GRCm39) |
missense |
unknown |
|
R5768:Akp3
|
UTSW |
1 |
87,054,844 (GRCm39) |
missense |
probably damaging |
0.99 |
R5809:Akp3
|
UTSW |
1 |
87,054,270 (GRCm39) |
missense |
probably benign |
0.06 |
R5956:Akp3
|
UTSW |
1 |
87,054,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R5999:Akp3
|
UTSW |
1 |
87,055,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6945:Akp3
|
UTSW |
1 |
87,053,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R7028:Akp3
|
UTSW |
1 |
87,054,500 (GRCm39) |
missense |
probably benign |
|
R7154:Akp3
|
UTSW |
1 |
87,052,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R7162:Akp3
|
UTSW |
1 |
87,055,471 (GRCm39) |
missense |
unknown |
|
R7486:Akp3
|
UTSW |
1 |
87,053,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R7825:Akp3
|
UTSW |
1 |
87,055,489 (GRCm39) |
small deletion |
probably benign |
|
R8267:Akp3
|
UTSW |
1 |
87,055,461 (GRCm39) |
missense |
unknown |
|
R8708:Akp3
|
UTSW |
1 |
87,054,091 (GRCm39) |
nonsense |
probably null |
|
R9026:Akp3
|
UTSW |
1 |
87,054,786 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9433:Akp3
|
UTSW |
1 |
87,053,517 (GRCm39) |
missense |
probably benign |
0.01 |
X0018:Akp3
|
UTSW |
1 |
87,054,060 (GRCm39) |
missense |
probably damaging |
1.00 |
X0060:Akp3
|
UTSW |
1 |
87,053,616 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Akp3
|
UTSW |
1 |
87,054,518 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Akp3
|
UTSW |
1 |
87,054,167 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGGAGCAGAACTACATCGC -3'
(R):5'- CTGCAATGCAAGGTAGGGCTAGAC -3'
Sequencing Primer
(F):5'- GAACTACATCGCGCACGTC -3'
(R):5'- CTAGACATGAGGCCAGTAGC -3'
|
Posted On |
2013-10-16 |