Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01667:Aqp9'

103339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aqp9

Ensembl Gene

ENSMUSG00000032204

Gene Name

aquaporin 9

Synonyms

1700020I22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

71110659-71168682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71138213 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 38 (V38A)

Ref Sequence

ENSEMBL: ENSMUSP00000116785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060917] [ENSMUST00000074465] [ENSMUST00000113570] [ENSMUST00000144618]

Predicted Effect

probably benign
Transcript: ENSMUST00000060917
AA Change: V64A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: V64A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:MIP	58	288	1.1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074465
AA Change: V38A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
AA Change: V38A

Domain	Start	End	E-Value	Type
Pfam:MIP	17	262	4.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113570
AA Change: V38A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
AA Change: V38A

Domain	Start	End	E-Value	Type
Pfam:MIP	17	262	4.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144618
AA Change: V38A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
AA Change: V38A

Domain	Start	End	E-Value	Type
Pfam:MIP	17	164	9.4e-31	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the aquaglyceroporin subfamily of aquaporins. This protein transports water, glycerol, urea, purines and pyrimidines and plays a role in glycerol metabolism and osteoclast differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,570,019	T57A	probably damaging	Het
Akna	G	T	4: 63,379,159	T886N	probably benign	Het
Awat2	C	T	X: 100,404,254	G124D	probably damaging	Het
Camsap1	A	G	2: 25,945,281		probably benign	Het
Catsperg2	T	C	7: 29,710,133	Y545C	probably damaging	Het
Cldn23	A	G	8: 35,825,920	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,952,860		probably benign	Het
Dlgap3	C	A	4: 127,233,897	T786K	probably benign	Het
Dnah2	A	C	11: 69,544,395	S50A	probably benign	Het
Dnah2	A	T	11: 69,520,941	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,547,292	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,756,754	P115L	probably damaging	Het
Fzd2	G	T	11: 102,605,782	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,736,637	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,177,518	I46S	probably damaging	Het
Gm5581	T	C	6: 131,167,772		noncoding transcript	Het
Krt2	C	A	15: 101,816,330	V282L	possibly damaging	Het
Myh15	G	A	16: 49,195,579	V1873M	probably benign	Het
Myo1b	T	C	1: 51,760,377	T931A	probably damaging	Het
Myo6	A	T	9: 80,289,893	K965N	unknown	Het
Olfr1441	T	C	19: 12,422,756	V149A	probably benign	Het
Pcnx3	T	C	19: 5,686,630	R160G	probably benign	Het
Slc22a16	T	C	10: 40,585,018	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,167,675	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,556,259	M1T	probably null	Het
St6gal1	A	G	16: 23,321,424	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,914,300		probably benign	Het
Tfrc	A	G	16: 32,624,443		probably benign	Het
Trip11	A	C	12: 101,878,862	F1539C	probably damaging	Het
Ttn	A	T	2: 76,781,078	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,577,800	M206L	probably benign	Het
Zfp362	A	G	4: 128,787,109	L141P	probably damaging	Het
Zfp692	A	G	11: 58,311,553	H378R	probably damaging	Het
Zfp799	T	C	17: 32,821,820	Q52R	possibly damaging	Het

Other mutations in Aqp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Aqp9	APN	9	71132731	missense	probably damaging	1.00
IGL01012:Aqp9	APN	9	71130549	splice site	probably benign
IGL02225:Aqp9	APN	9	71130547	splice site	probably benign
IGL02389:Aqp9	APN	9	71122906	missense	possibly damaging	0.80
IGL02551:Aqp9	APN	9	71132640	missense	probably damaging	0.98
IGL02904:Aqp9	APN	9	71138148	missense	probably damaging	0.98
R0411:Aqp9	UTSW	9	71130444	missense	probably benign	0.00
R0751:Aqp9	UTSW	9	71138205	missense	probably damaging	1.00
R1656:Aqp9	UTSW	9	71138103	missense	probably benign	0.01
R1731:Aqp9	UTSW	9	71122968	missense	possibly damaging	0.91
R1733:Aqp9	UTSW	9	71112342	missense	possibly damaging	0.67
R1865:Aqp9	UTSW	9	71112376	missense	probably benign	0.29
R4058:Aqp9	UTSW	9	71130444	missense	probably benign	0.00
R4756:Aqp9	UTSW	9	71163049	missense	probably damaging	1.00
R4771:Aqp9	UTSW	9	71122870	missense	probably damaging	1.00
R4904:Aqp9	UTSW	9	71162403	intron	probably benign
R5334:Aqp9	UTSW	9	71123010	critical splice acceptor site	probably null
R5511:Aqp9	UTSW	9	71163093	utr 5 prime	probably benign
R5771:Aqp9	UTSW	9	71122864	missense	probably damaging	1.00
R6329:Aqp9	UTSW	9	71132684	nonsense	probably null
R6831:Aqp9	UTSW	9	71162420	intron	probably benign
R6838:Aqp9	UTSW	9	71112216	missense	probably benign	0.41
R7337:Aqp9	UTSW	9	71162482	missense	probably benign	0.23
R7466:Aqp9	UTSW	9	71163261	intron	probably null

Posted On

2014-01-21