Mutagenetix > Incidental Mutation

Incidental Mutation 'R1618:Akp3'

174402

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

039655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R1618 (G1)

Quality Score

Status

Validated

Chromosome

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: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

96% (79/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	T	C	14: 105,736,380 (GRCm39)		noncoding transcript	Het
Abca8b	A	T	11: 109,840,714 (GRCm39)		probably benign	Het
Anln	A	G	9: 22,262,214 (GRCm39)		probably null	Het
Anpep	T	G	7: 79,485,165 (GRCm39)	Q607P	probably benign	Het
Arl13b	A	C	16: 62,633,640 (GRCm39)		probably null	Het
Asxl3	T	C	18: 22,650,044 (GRCm39)	S678P	probably damaging	Het
Atf6b	C	T	17: 34,866,702 (GRCm39)	Q58*	probably null	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Cfap46	T	A	7: 139,232,726 (GRCm39)	M782L	probably benign	Het
Cngb3	T	C	4: 19,364,260 (GRCm39)	S155P	probably benign	Het
Coro1a	T	C	7: 126,300,719 (GRCm39)	I162V	probably benign	Het
Cry1	T	A	10: 84,982,318 (GRCm39)	I343F	probably damaging	Het
Csnk1e	A	T	15: 79,309,050 (GRCm39)	M292K	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cul9	A	T	17: 46,836,818 (GRCm39)	M1069K	probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 117,979,200 (GRCm39)	I2633V	probably damaging	Het
Eif4g3	C	A	4: 137,933,369 (GRCm39)	D1731E	probably damaging	Het
Epb41l4b	T	C	4: 57,032,204 (GRCm39)	T592A	probably benign	Het
Evi5	T	C	5: 107,946,984 (GRCm39)		probably benign	Het
Exo1	T	A	1: 175,728,952 (GRCm39)	M672K	probably benign	Het
Fcho1	T	C	8: 72,163,047 (GRCm39)	S661G	probably damaging	Het
Fnip2	A	G	3: 79,415,475 (GRCm39)	Y188H	possibly damaging	Het
Foxb1	T	C	9: 69,667,293 (GRCm39)	D79G	probably damaging	Het
Fyco1	T	C	9: 123,658,346 (GRCm39)	Y610C	probably damaging	Het
Gm3095	T	A	14: 15,170,441 (GRCm39)	Y97N	probably damaging	Het
Gm3095	C	A	14: 15,170,440 (GRCm39)	N96K	probably damaging	Het
Gmfb	A	T	14: 47,049,237 (GRCm39)	L128*	probably null	Het
Gprc5c	T	A	11: 114,755,220 (GRCm39)	V299D	possibly damaging	Het
Hsfy2	C	T	1: 56,676,388 (GRCm39)	V50I	probably benign	Het
Hspa12b	A	C	2: 130,982,849 (GRCm39)	K236Q	probably benign	Het
Impg2	A	G	16: 56,080,221 (GRCm39)	Y566C	probably damaging	Het
Itpr3	A	C	17: 27,335,581 (GRCm39)		probably null	Het
Kprp	G	A	3: 92,732,783 (GRCm39)	T89I	probably damaging	Het
Lcmt2	T	C	2: 120,969,133 (GRCm39)	E650G	probably damaging	Het
Lrch1	T	C	14: 75,051,144 (GRCm39)	D331G	probably damaging	Het
Mroh9	T	A	1: 162,852,110 (GRCm39)	I860F	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myt1l	A	G	12: 29,877,396 (GRCm39)	D349G	unknown	Het
Ndufs2	T	C	1: 171,073,690 (GRCm39)	T31A	probably benign	Het
Ndufs3	A	T	2: 90,729,016 (GRCm39)	S157T	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Noct	T	A	3: 51,155,251 (GRCm39)	S6R	probably damaging	Het
Npas2	T	A	1: 39,339,808 (GRCm39)	H119Q	probably damaging	Het
Oprl1	A	T	2: 181,360,646 (GRCm39)	Y207F	probably benign	Het
Or2n1e	G	A	17: 38,586,557 (GRCm39)		probably null	Het
Or4c11	A	G	2: 88,695,871 (GRCm39)		probably null	Het
Or8k30	T	G	2: 86,339,193 (GRCm39)	L130R	probably damaging	Het
Palm3	G	T	8: 84,756,291 (GRCm39)	S601I	possibly damaging	Het
Plscr1	T	A	9: 92,148,548 (GRCm39)	C163S	probably damaging	Het
Ptprk	A	T	10: 28,369,166 (GRCm39)	M713L	probably benign	Het
Rdm1	A	G	11: 101,519,217 (GRCm39)	D72G	possibly damaging	Het
Reln	T	C	5: 22,265,366 (GRCm39)	D442G	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sbno1	T	C	5: 124,542,279 (GRCm39)	Y338C	probably damaging	Het
Seh1l	T	G	18: 67,921,806 (GRCm39)	V222G	probably damaging	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Slc25a18	A	C	6: 120,763,303 (GRCm39)		probably benign	Het
Slc33a1	T	C	3: 63,855,650 (GRCm39)	T332A	possibly damaging	Het
Slc35d3	A	G	10: 19,724,909 (GRCm39)	S316P	probably benign	Het
Spmip7	A	G	11: 11,438,641 (GRCm39)		probably benign	Het
Srrm2	T	A	17: 24,037,906 (GRCm39)		probably benign	Het
Srsf12	C	T	4: 33,230,974 (GRCm39)	S156L	probably damaging	Het
Syce3	A	G	15: 89,274,606 (GRCm39)	M49T	probably benign	Het
Tjp3	T	C	10: 81,112,094 (GRCm39)		probably benign	Het
Tnks	G	T	8: 35,342,430 (GRCm39)	N373K	probably damaging	Het
Togaram1	A	G	12: 65,013,847 (GRCm39)	N366S	possibly damaging	Het
Trpm1	G	A	7: 63,890,283 (GRCm39)	R962H	probably damaging	Het
Trpm6	A	T	19: 18,854,995 (GRCm39)	M1885L	possibly damaging	Het
Tshz3	A	G	7: 36,471,221 (GRCm39)	D1070G	probably damaging	Het
Ush2a	T	C	1: 188,546,421 (GRCm39)	M3399T	probably benign	Het
Utp15	G	A	13: 98,393,695 (GRCm39)	T196I	probably benign	Het
Vmn1r168	T	C	7: 23,240,725 (GRCm39)	I194T	probably benign	Het
Vmn2r73	C	T	7: 85,525,120 (GRCm39)	W9*	probably null	Het
Wdr17	T	C	8: 55,092,930 (GRCm39)	Y1076C	probably damaging	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zbtb46	A	T	2: 181,066,042 (GRCm39)	V36E	possibly damaging	Het
Zfp558	T	C	9: 18,380,579 (GRCm39)	I9M	possibly damaging	Het
Zscan2	T	A	7: 80,525,534 (GRCm39)	Y418*	probably null	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
R0784: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
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

2014-04-24