Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02361:Aqp1'

290500

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aqp1

Ensembl Gene

ENSMUSG00000004655

Gene Name

aquaporin 1

Synonyms

CHIP28

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02361

Quality Score

Status

Chromosome

Chromosomal Location

55313417-55325540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55322498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 164 (L164F)

Ref Sequence

ENSEMBL: ENSMUSP00000004774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004774]

AlphaFold

Q02013

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004774
AA Change: L164F

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004774
Gene: ENSMUSG00000004655
AA Change: L164F

Domain	Start	End	E-Value	Type
Pfam:MIP	4	227	3e-85	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutation of this gene results in urine hypoosmality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bfsp1	T	C	2: 143,673,907 (GRCm39)	E261G	probably damaging	Het
Brinp2	A	G	1: 158,074,748 (GRCm39)	C458R	probably damaging	Het
Cacng3	T	G	7: 122,271,169 (GRCm39)	M58R	possibly damaging	Het
Cfap43	A	T	19: 47,885,852 (GRCm39)	C254*	probably null	Het
Cnga1	T	C	5: 72,774,061 (GRCm39)		probably null	Het
Dis3	A	T	14: 99,317,148 (GRCm39)	Y765*	probably null	Het
Dpep1	T	A	8: 123,926,957 (GRCm39)	S260R	probably benign	Het
Elmod1	A	G	9: 53,838,842 (GRCm39)	L106P	probably damaging	Het
Fut10	A	G	8: 31,691,398 (GRCm39)	Y81C	probably damaging	Het
Fzd10	T	A	5: 128,678,932 (GRCm39)	D217E	possibly damaging	Het
Gap43	T	C	16: 42,160,871 (GRCm39)		probably benign	Het
Gigyf1	T	C	5: 137,517,989 (GRCm39)		probably benign	Het
Gpc5	C	T	14: 115,370,699 (GRCm39)	R175*	probably null	Het
Gpi-ps	T	C	8: 5,690,896 (GRCm39)		noncoding transcript	Het
Kcna1	C	A	6: 126,619,869 (GRCm39)	Q150H	probably damaging	Het
Lama5	A	T	2: 179,835,677 (GRCm39)	C1225*	probably null	Het
Lrrc25	A	T	8: 71,070,477 (GRCm39)	D86V	probably benign	Het
Madd	A	T	2: 90,992,543 (GRCm39)	V1043E	probably benign	Het
Mov10	A	T	3: 104,711,437 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,782,250 (GRCm39)	H46L	possibly damaging	Het
Nek10	A	T	14: 14,843,856 (GRCm38)	Q193L	probably damaging	Het
Nos3	A	T	5: 24,572,621 (GRCm39)	I187F	probably damaging	Het
Or4c1	T	A	2: 89,133,526 (GRCm39)	M137L	probably benign	Het
Or5p53	T	A	7: 107,533,484 (GRCm39)	Y252*	probably null	Het
Or6c69c	A	G	10: 129,911,143 (GRCm39)	Y288C	probably damaging	Het
Pgap1	T	C	1: 54,551,975 (GRCm39)	T486A	probably benign	Het
Prdm9	C	T	17: 15,783,109 (GRCm39)	V58M	probably damaging	Het
Prkd2	A	G	7: 16,581,583 (GRCm39)	Y146C	probably damaging	Het
Psmd9	G	T	5: 123,386,379 (GRCm39)	R175I	probably damaging	Het
Pxdn	A	G	12: 30,049,188 (GRCm39)	D618G	probably damaging	Het
Rgs6	A	T	12: 82,665,393 (GRCm39)		probably benign	Het
Rrm2	G	T	12: 24,761,438 (GRCm39)		probably benign	Het
Shank3	T	C	15: 89,388,536 (GRCm39)	V376A	probably damaging	Het
Slc5a10	A	G	11: 61,610,666 (GRCm39)		probably null	Het
Slfn3	A	T	11: 83,104,068 (GRCm39)	Q313L	possibly damaging	Het
Sptbn1	A	T	11: 30,060,783 (GRCm39)	F2062L	probably damaging	Het
Tbc1d10a	T	C	11: 4,165,047 (GRCm39)	V500A	probably benign	Het
Tcea1	T	C	1: 4,966,570 (GRCm39)		probably benign	Het
Thsd7a	T	C	6: 12,348,192 (GRCm39)		probably benign	Het
Tm9sf4	C	T	2: 153,029,570 (GRCm39)	T173M	probably benign	Het
Tmtc2	T	C	10: 105,107,387 (GRCm39)	T709A	probably benign	Het
Zfp385b	T	C	2: 77,280,647 (GRCm39)	E97G	probably damaging	Het
Zim1	A	T	7: 6,685,873 (GRCm39)		probably null	Het

Other mutations in Aqp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Aqp1	APN	6	55,322,498 (GRCm39)	missense	possibly damaging	0.78
R0145:Aqp1	UTSW	6	55,323,672 (GRCm39)	missense	probably damaging	0.98
R4608:Aqp1	UTSW	6	55,313,624 (GRCm39)	missense	possibly damaging	0.95
R5073:Aqp1	UTSW	6	55,322,520 (GRCm39)	missense	probably damaging	1.00
R5074:Aqp1	UTSW	6	55,322,520 (GRCm39)	missense	probably damaging	1.00
R5789:Aqp1	UTSW	6	55,313,746 (GRCm39)	missense	probably benign
R6147:Aqp1	UTSW	6	55,313,595 (GRCm39)	missense	probably benign	0.00
R7326:Aqp1	UTSW	6	55,313,836 (GRCm39)	missense	probably benign
R7731:Aqp1	UTSW	6	55,322,804 (GRCm39)	missense	possibly damaging	0.53
R8115:Aqp1	UTSW	6	55,322,498 (GRCm39)	frame shift	probably null
R8810:Aqp1	UTSW	6	55,313,606 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16