Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Alpl'

291309

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alpl

Ensembl Gene

ENSMUSG00000028766

Gene Name

alkaline phosphatase, liver/bone/kidney

Synonyms

TNAP, Akp-2, ALP, TNSALP, Akp2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

137469044-137523695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137469869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 485 (A485V)

Ref Sequence

ENSEMBL: ENSMUSP00000030551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030551]

AlphaFold

P09242

Predicted Effect

probably damaging
Transcript: ENSMUST00000030551
AA Change: A485V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030551
Gene: ENSMUSG00000028766
AA Change: A485V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
alkPPc	52	491	4.69e-285	SMART
low complexity region	500	520	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141451

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a membrane-bound glycosylated enzyme that catalyzes the hydrolysis of phosphate esters at alkaline pH. The mature peptide maintains the ratio of inorganic phosphate to inorganic pyrophosphate required for bone mineralization. Mice that lack this enzyme show symptoms of osteomalacia, softening of the bones. In humans, mutations in this gene are associated with hypophosphatasia, an inherited metabolic bone disease in which deficiency of this enzyme inhibits bone mineralization leading to skeletal defects. Mutations in the mouse gene mirror the symptoms of human hypophosphatasia. A pseudogene of this gene is present on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms. [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
Acad10	T	A	5: 121,760,106 (GRCm39)	I996F	probably damaging	Het
Adamts9	T	A	6: 92,774,014 (GRCm39)	D1133V	probably damaging	Het
Adi1	T	A	12: 28,729,466 (GRCm39)	D106E	probably damaging	Het
Agl	A	G	3: 116,572,740 (GRCm39)	F837S	probably damaging	Het
Alb	T	A	5: 90,613,738 (GRCm39)	D207E	probably benign	Het
Alms1	T	G	6: 85,606,615 (GRCm39)	V2286G	probably damaging	Het
Antxrl	C	A	14: 33,778,492 (GRCm39)		probably null	Het
Apc	C	T	18: 34,431,798 (GRCm39)	T417I	probably benign	Het
Ash2l	T	C	8: 26,312,799 (GRCm39)	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980 (GRCm39)	P582S	probably damaging	Het
Bcr	T	A	10: 74,992,980 (GRCm39)	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,128,159 (GRCm39)	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,552,835 (GRCm39)	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,635,242 (GRCm39)	D47G	probably benign	Het
Clca4b	T	A	3: 144,627,619 (GRCm39)	M451L	probably benign	Het
Csnk1g3	T	C	18: 54,066,564 (GRCm39)	S346P	probably benign	Het
Cspg4	G	T	9: 56,799,893 (GRCm39)		probably benign	Het
Ctr9	A	G	7: 110,650,726 (GRCm39)	K884E	probably damaging	Het
Cyld	T	A	8: 89,471,556 (GRCm39)	C813*	probably null	Het
Fn3k	A	T	11: 121,325,950 (GRCm39)	T46S	probably benign	Het
Foxred1	T	C	9: 35,121,282 (GRCm39)	R89G	probably benign	Het
Gpr174	T	C	X: 106,337,084 (GRCm39)	F299L	probably damaging	Het
Hdac7	T	C	15: 97,706,266 (GRCm39)	D312G	probably damaging	Het
Il36b	A	G	2: 24,044,650 (GRCm39)	S17G	probably benign	Het
Kcna5	G	T	6: 126,511,472 (GRCm39)	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,531,636 (GRCm39)	V425G	probably damaging	Het
Klk1b5	A	G	7: 43,500,246 (GRCm39)	N278S	probably damaging	Het
Mars2	T	A	1: 55,277,212 (GRCm39)	W272R	probably damaging	Het
Msl3l2	C	A	10: 55,992,017 (GRCm39)	S247R	possibly damaging	Het
Myh7	T	C	14: 55,216,925 (GRCm39)	E1144G	probably damaging	Het
Nefm	T	C	14: 68,357,688 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,962,644 (GRCm39)	K743E	probably damaging	Het
Nyap2	C	T	1: 81,065,147 (GRCm39)	T53I	probably damaging	Het
Odad4	A	T	11: 100,457,809 (GRCm39)	N471Y	possibly damaging	Het
Or10ag58	T	C	2: 87,265,668 (GRCm39)	V279A	probably benign	Het
Or52z12	T	C	7: 103,234,099 (GRCm39)	V290A	possibly damaging	Het
Peli2	A	G	14: 48,405,755 (GRCm39)	H60R	probably damaging	Het
Pias2	T	A	18: 77,232,844 (GRCm39)		probably benign	Het
Pik3c2b	A	G	1: 133,022,529 (GRCm39)	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,870,922 (GRCm39)		probably null	Het
Raf1	A	T	6: 115,621,509 (GRCm39)	D23E	probably benign	Het
Rhox10	G	A	X: 37,155,733 (GRCm39)	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,376,345 (GRCm39)	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,084,919 (GRCm39)	S105T	probably benign	Het
Slc12a9	T	G	5: 137,319,691 (GRCm39)	Q608P	probably damaging	Het
Smg6	C	A	11: 74,944,751 (GRCm39)	P167T	probably damaging	Het
Spata7	C	T	12: 98,600,519 (GRCm39)	T44I	probably damaging	Het
Spink12	C	T	18: 44,239,575 (GRCm39)		probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stag2	C	T	X: 41,339,474 (GRCm39)	T754I	probably benign	Het
Supt6	C	T	11: 78,116,195 (GRCm39)	V723M	possibly damaging	Het
Ubr3	A	G	2: 69,778,832 (GRCm39)	D614G	possibly damaging	Het
Vps39	T	A	2: 120,154,089 (GRCm39)	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,340,170 (GRCm39)	L29Q	probably damaging	Het
Wtap	G	A	17: 13,188,336 (GRCm39)	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,974 (GRCm39)	F5L	probably benign	Het
Zfp655	C	T	5: 145,180,765 (GRCm39)	P208S	probably benign	Het
Zswim3	A	T	2: 164,662,602 (GRCm39)		probably null	Het

Other mutations in Alpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Alpl	APN	4	137,470,624 (GRCm39)	splice site	probably benign
IGL02164:Alpl	APN	4	137,481,290 (GRCm39)	missense	probably damaging	1.00
IGL02632:Alpl	APN	4	137,481,217 (GRCm39)	missense	probably damaging	0.98
IGL02926:Alpl	APN	4	137,469,945 (GRCm39)	missense	probably damaging	1.00
R0492:Alpl	UTSW	4	137,476,887 (GRCm39)	splice site	probably null
R1157:Alpl	UTSW	4	137,481,331 (GRCm39)	missense	probably damaging	1.00
R2013:Alpl	UTSW	4	137,482,458 (GRCm39)	missense	probably benign	0.00
R2067:Alpl	UTSW	4	137,476,856 (GRCm39)	unclassified	probably benign
R4412:Alpl	UTSW	4	137,485,939 (GRCm39)	missense	possibly damaging	0.84
R4440:Alpl	UTSW	4	137,475,124 (GRCm39)	missense	probably damaging	1.00
R5275:Alpl	UTSW	4	137,476,919 (GRCm39)	missense	probably benign	0.00
R5295:Alpl	UTSW	4	137,476,919 (GRCm39)	missense	probably benign	0.00
R5529:Alpl	UTSW	4	137,473,733 (GRCm39)	missense	probably damaging	0.99
R6706:Alpl	UTSW	4	137,473,740 (GRCm39)	missense	probably benign	0.00
R7291:Alpl	UTSW	4	137,480,009 (GRCm39)	missense	probably damaging	1.00
R7693:Alpl	UTSW	4	137,471,120 (GRCm39)	missense	probably damaging	1.00
R7694:Alpl	UTSW	4	137,471,120 (GRCm39)	missense	probably damaging	1.00
R8247:Alpl	UTSW	4	137,473,764 (GRCm39)	missense	probably damaging	1.00
R8686:Alpl	UTSW	4	137,471,112 (GRCm39)	missense	probably damaging	1.00
R8725:Alpl	UTSW	4	137,475,127 (GRCm39)	missense	probably benign
R8727:Alpl	UTSW	4	137,475,127 (GRCm39)	missense	probably benign
X0017:Alpl	UTSW	4	137,473,778 (GRCm39)	missense	probably damaging	1.00
Z1176:Alpl	UTSW	4	137,481,321 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16