Mutagenetix > Incidental Mutation

Incidental Mutation 'R5789:Aqp1'

448204

Institutional Source

Beutler Lab

Gene Symbol

Aqp1

Ensembl Gene

ENSMUSG00000004655

Gene Name

aquaporin 1

Synonyms

CHIP28

MMRRC Submission

043383-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5789 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55313417-55325540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55313746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 91 (I91V)

Ref Sequence

ENSEMBL: ENSMUSP00000004774 (fasta)

Gene Model

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

AlphaFold

Q02013

Predicted Effect

probably benign
Transcript: ENSMUST00000004774
AA Change: I91V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004774
Gene: ENSMUSG00000004655
AA Change: I91V

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

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,076,108 (GRCm39)	F1200S	probably damaging	Het
Ahnak	A	T	19: 8,979,685 (GRCm39)	D323V	probably benign	Het
Aloxe3	T	C	11: 69,017,265 (GRCm39)	Y13H	probably damaging	Het
C9orf72	T	A	4: 35,226,112 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,305,831 (GRCm39)	S318P	probably damaging	Het
Cdan1	A	G	2: 120,560,016 (GRCm39)	F383L	probably benign	Het
Ciao3	T	C	17: 26,000,177 (GRCm39)	C303R	probably benign	Het
Col6a2	T	A	10: 76,440,223 (GRCm39)	E606V	probably damaging	Het
Col6a5	T	C	9: 105,741,807 (GRCm39)	T2371A	possibly damaging	Het
Cops3	T	C	11: 59,721,106 (GRCm39)		probably benign	Het
Coq7	G	T	7: 118,128,929 (GRCm39)	H35Q	possibly damaging	Het
Cp	T	A	3: 20,011,454 (GRCm39)	F3I	probably benign	Het
D630003M21Rik	C	T	2: 158,058,734 (GRCm39)	E389K	possibly damaging	Het
Dclre1c	A	T	2: 3,438,993 (GRCm39)	Q51L	probably damaging	Het
Dhx37	A	C	5: 125,498,103 (GRCm39)	I702S	possibly damaging	Het
Dnah3	G	T	7: 119,542,822 (GRCm39)	A3530D	possibly damaging	Het
Dnajc13	T	C	9: 104,091,387 (GRCm39)	R635G	probably damaging	Het
Dnhd1	A	G	7: 105,354,217 (GRCm39)	S3066G	possibly damaging	Het
Doc2b	T	A	11: 75,676,941 (GRCm39)	H144L	probably damaging	Het
Eif2b3	T	A	4: 116,885,692 (GRCm39)	I78N	probably damaging	Het
Enpp1	A	T	10: 24,523,137 (GRCm39)	H767Q	probably benign	Het
Fam180a	C	A	6: 35,290,461 (GRCm39)	*174L	probably null	Het
Gabra1	A	T	11: 42,073,742 (GRCm39)		probably benign	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm16551	T	A	9: 74,756,535 (GRCm39)		noncoding transcript	Het
Ifi213	C	A	1: 173,396,360 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,411,410 (GRCm39)	V358A	possibly damaging	Het
Kmt2a	T	C	9: 44,731,201 (GRCm39)		probably benign	Het
Mrgprb13	A	T	7: 47,961,946 (GRCm39)		noncoding transcript	Het
Mtrex	A	T	13: 113,027,819 (GRCm39)	N680K	probably benign	Het
Nckap5	A	G	1: 125,955,439 (GRCm39)	F371S	probably damaging	Het
Nudcd1	G	A	15: 44,251,879 (GRCm39)	Q428*	probably null	Het
Pcdhgc5	C	A	18: 37,954,559 (GRCm39)	P611Q	probably damaging	Het
Plekhb1	A	T	7: 100,294,793 (GRCm39)	Y193*	probably null	Het
Prrt1	T	C	17: 34,850,931 (GRCm39)		probably null	Het
Ptpn12	G	A	5: 21,194,013 (GRCm39)	T753I	possibly damaging	Het
Samsn1	T	C	16: 75,673,336 (GRCm39)	D180G	probably damaging	Het
Sh2d2a	T	A	3: 87,756,820 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,045,091 (GRCm39)		probably null	Het
Socs3	T	A	11: 117,858,608 (GRCm39)	Q150L	probably benign	Het
Supt6	A	G	11: 78,124,412 (GRCm39)	V23A	unknown	Het
Tcf12	T	C	9: 71,792,518 (GRCm39)	Y119C	probably damaging	Het
Them5	A	G	3: 94,253,908 (GRCm39)	E210G	probably damaging	Het
Tmem135	A	G	7: 88,845,330 (GRCm39)	F167S	possibly damaging	Het
Tmem170	A	G	8: 112,593,032 (GRCm39)	V134A	possibly damaging	Het
Trbv20	A	G	6: 41,165,725 (GRCm39)	Y50C	probably damaging	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xpnpep3	T	A	15: 81,300,065 (GRCm39)		probably benign	Het
Yars1	C	T	4: 129,090,690 (GRCm39)	T78M	probably damaging	Het
Zdhhc16	T	A	19: 41,926,572 (GRCm39)	H98Q	probably damaging	Het
Zfp90	T	C	8: 107,150,605 (GRCm39)	L106P	probably benign	Het
Zscan22	T	G	7: 12,637,853 (GRCm39)	S82A	probably benign	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
IGL02361: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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTCAATTACCCACTGGAG -3'
(R):5'- CCAGTTCTCAGCATGACTCC -3'

Sequencing Primer
(F):5'- GCTTCAATTACCCACTGGAGAGAAAC -3'
(R):5'- CCCCTTGTACAGTAGGCAAATGG -3'

Posted On

2016-12-15