Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02389:Aqp9'

291695

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: 0.153) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

71110659-71168682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71122906 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 200 (I200V)

Ref Sequence

ENSEMBL: ENSMUSP00000109200 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060917
AA Change: I226V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: I226V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074465
AA Change: I200V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
AA Change: I200V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113570
AA Change: I200V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
AA Change: I200V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144618

SMART Domains

Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213527

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	A	5: 63,896,483	S11N	probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Cntn2	T	C	1: 132,525,321	E411G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dennd3	A	G	15: 73,567,056	D1091G	probably damaging	Het
Dock2	T	C	11: 34,698,740		probably benign	Het
Dscam	T	A	16: 96,640,897	I1577F	probably benign	Het
Egflam	A	T	15: 7,250,078	N482K	probably benign	Het
Fam216a	T	C	5: 122,367,511	T129A	probably damaging	Het
Fbxo40	T	C	16: 36,969,774	M325V	probably benign	Het
Fbxw8	C	T	5: 118,128,955	V148M	possibly damaging	Het
Fcgbp	C	T	7: 28,075,171	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,380,931		probably null	Het
Gria2	T	C	3: 80,709,422	T408A	probably benign	Het
H2-T3	A	G	17: 36,186,608	M59T	probably benign	Het
Jakmip1	C	T	5: 37,100,843	Q278*	probably null	Het
Krtap21-1	C	T	16: 89,403,424	G110D	unknown	Het
Myo7a	C	T	7: 98,106,991		probably null	Het
Nlrp9c	T	A	7: 26,394,207	Q11L	probably benign	Het
Olfr1442	A	T	19: 12,674,535	D110V	probably benign	Het
Olfr298	A	G	7: 86,489,128	L141P	probably damaging	Het
Olfr767	A	C	10: 129,079,230	I244M	probably damaging	Het
Olfr790	T	A	10: 129,501,070	M62K	probably benign	Het
Pdzd8	A	G	19: 59,301,393	I525T	probably benign	Het
Pign	A	T	1: 105,646,781	L280*	probably null	Het
Pik3r4	T	G	9: 105,650,331	I294M	possibly damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,848,758	Q471*	probably null	Het
Prrc2c	A	G	1: 162,692,870	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,567,171	R52C	probably damaging	Het
Rfx2	T	C	17: 56,808,325		probably benign	Het
Sh3bp4	T	C	1: 89,145,148	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,263,301		probably benign	Het
Slc26a8	T	A	17: 28,638,650	I840F	probably benign	Het
Slc5a4b	A	T	10: 76,072,465	Y364*	probably null	Het
Slitrk1	A	G	14: 108,912,322	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,208,205	A499T	probably benign	Het
Tnks2	T	A	19: 36,884,103	S951R	probably benign	Het
Trim30c	A	G	7: 104,382,174	F478S	probably benign	Het
Tyro3	C	T	2: 119,804,864		probably benign	Het
Vmn1r34	A	T	6: 66,637,058	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,495,446	C215S	probably damaging	Het
Zzef1	T	A	11: 72,899,538	V2106D	possibly damaging	Het
Zzef1	C	T	11: 72,891,217	P1995S	probably benign	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
IGL01667:Aqp9	APN	9	71138213	missense	probably benign	0.13
IGL02225:Aqp9	APN	9	71130547	splice site	probably benign
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

2015-04-16