Mutagenetix > Incidental Mutation

Incidental Mutation 'R1542:Aqp2'

171864

Institutional Source

Beutler Lab

Gene Symbol

Aqp2

Ensembl Gene

ENSMUSG00000023013

Gene Name

aquaporin 2

Synonyms

MMRRC Submission

039581-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.441) question?

Stock #

R1542 (G1)

Quality Score

104

Status

Not validated

Chromosome

Chromosomal Location

99579055-99584547 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99583842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 206 (I206L)

Ref Sequence

ENSEMBL: ENSMUSP00000023752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023752]

AlphaFold

P56402

Predicted Effect

probably benign
Transcript: ENSMUST00000023752
AA Change: I206L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023752
Gene: ENSMUSG00000023013
AA Change: I206L

Domain	Start	End	E-Value	Type
Pfam:MIP	3	219	4.2e-82	PFAM
low complexity region	247	258	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,414,406 (GRCm38)	M208T	possibly damaging	Het
Acsbg2	T	A	17: 56,849,791 (GRCm38)	I416F	probably damaging	Het
Adam6b	G	A	12: 113,490,939 (GRCm38)	D459N	possibly damaging	Het
Adprh	A	T	16: 38,445,924 (GRCm38)	D285E	probably damaging	Het
Aggf1	A	T	13: 95,370,942 (GRCm38)	C112S	probably benign	Het
Als2cl	T	C	9: 110,894,034 (GRCm38)	V602A	probably benign	Het
Angptl2	G	T	2: 33,228,885 (GRCm38)	V224F	probably benign	Het
Ap3b2	A	T	7: 81,478,077 (GRCm38)		probably null	Het
Asap2	A	G	12: 21,265,997 (GRCm38)	D930G	probably damaging	Het
Cacna1e	T	A	1: 154,477,779 (GRCm38)	M682L	probably benign	Het
Ccdc18	A	G	5: 108,212,188 (GRCm38)	N1146S	probably benign	Het
Ccr4	G	A	9: 114,492,005 (GRCm38)	H331Y	probably benign	Het
Cd33	A	G	7: 43,532,106 (GRCm38)	L210P	probably damaging	Het
Cep85l	T	C	10: 53,301,584 (GRCm38)	E351G	probably damaging	Het
Cntn6	C	A	6: 104,848,100 (GRCm38)	T867K	probably damaging	Het
Cpeb2	C	T	5: 43,285,875 (GRCm38)	R970C	probably damaging	Het
Cul7	T	A	17: 46,663,190 (GRCm38)	L1467H	probably damaging	Het
Dscaml1	T	A	9: 45,749,440 (GRCm38)	I1693K	possibly damaging	Het
Ebf4	A	T	2: 130,365,498 (GRCm38)	M621L	probably benign	Het
Elp4	G	T	2: 105,794,609 (GRCm38)	T313N	probably benign	Het
Epas1	T	A	17: 86,824,490 (GRCm38)	I373N	possibly damaging	Het
Etnk1	A	T	6: 143,180,641 (GRCm38)	M71L	probably benign	Het
Fry	C	T	5: 150,404,966 (GRCm38)	T1257I	probably benign	Het
Gm21834	A	G	17: 57,741,951 (GRCm38)	F90S	possibly damaging	Het
Gm8674	T	A	13: 49,900,003 (GRCm38)		noncoding transcript	Het
Gna11	T	C	10: 81,533,328 (GRCm38)	T134A	probably benign	Het
Golga5	C	T	12: 102,474,720 (GRCm38)	S238F	probably damaging	Het
Grin2a	T	A	16: 9,579,203 (GRCm38)	N1007Y	probably damaging	Het
H3c6	A	G	13: 23,562,164 (GRCm38)	F68L	probably damaging	Het
Ifnar2	G	A	16: 91,399,265 (GRCm38)	V253M	possibly damaging	Het
Insl5	A	T	4: 103,018,185 (GRCm38)	S123T	probably damaging	Het
Itgb2	T	C	10: 77,559,486 (GRCm38)	S474P	probably benign	Het
Kcnb2	A	G	1: 15,710,788 (GRCm38)	H628R	probably benign	Het
L3mbtl2	G	A	15: 81,682,151 (GRCm38)	D392N	probably null	Het
Lrp1b	G	T	2: 41,123,712 (GRCm38)	T1813K	probably damaging	Het
Map3k4	A	G	17: 12,235,906 (GRCm38)	L1399P	probably damaging	Het
Mbtps1	A	C	8: 119,546,247 (GRCm38)		probably null	Het
Mettl25	A	T	10: 105,826,120 (GRCm38)	S330T	probably benign	Het
Mical2	T	C	7: 112,309,468 (GRCm38)	L211P	probably damaging	Het
Mmrn1	T	A	6: 60,945,118 (GRCm38)	S186R	probably damaging	Het
Mob3b	C	A	4: 35,084,046 (GRCm38)	V48L	possibly damaging	Het
Napsa	A	T	7: 44,581,689 (GRCm38)	H114L	probably damaging	Het
Nsmce4a	A	T	7: 130,545,893 (GRCm38)		probably null	Het
Nup62	A	G	7: 44,829,929 (GRCm38)	K456R	possibly damaging	Het
Nwd2	T	A	5: 63,806,975 (GRCm38)	W1301R	probably damaging	Het
Olfr364-ps1	T	A	2: 37,146,966 (GRCm38)	S251R	probably damaging	Het
Oprm1	G	T	10: 6,788,960 (GRCm38)	W29L	probably damaging	Het
Or10al2	A	T	17: 37,672,251 (GRCm38)	E76V	probably damaging	Het
Or2c1	T	A	16: 3,839,832 (GRCm38)	N286K	probably damaging	Het
Or5w17	A	G	2: 87,753,318 (GRCm38)	V225A	probably damaging	Het
Pals2	A	G	6: 50,198,326 (GRCm38)	Y539C	probably damaging	Het
Pcnt	C	T	10: 76,401,386 (GRCm38)	M1355I	probably benign	Het
Pcnt	T	G	10: 76,389,387 (GRCm38)	N1761T	probably benign	Het
Pde11a	A	T	2: 76,046,855 (GRCm38)	S757T	probably benign	Het
Pde6a	T	A	18: 61,257,045 (GRCm38)	I490N	possibly damaging	Het
Pgap1	A	G	1: 54,492,090 (GRCm38)	V742A	probably benign	Het
Pik3c2b	T	C	1: 133,090,034 (GRCm38)	L915P	probably damaging	Het
Pkd1l1	A	G	11: 8,874,179 (GRCm38)	C1129R	possibly damaging	Het
Pkhd1l1	A	T	15: 44,528,191 (GRCm38)	H1551L	probably benign	Het
Plxnb2	C	T	15: 89,165,921 (GRCm38)	C491Y	probably damaging	Het
Ppt1	C	A	4: 122,857,609 (GRCm38)	H300N	probably benign	Het
Prpf3	T	A	3: 95,836,470 (GRCm38)	Q457L	probably benign	Het
Ranbp17	C	T	11: 33,264,672 (GRCm38)	V914I	probably benign	Het
Rasal2	T	C	1: 157,175,851 (GRCm38)	I413V	possibly damaging	Het
Rb1cc1	G	A	1: 6,244,249 (GRCm38)	V382I	possibly damaging	Het
Rere	T	A	4: 150,615,942 (GRCm38)	F1125I	probably damaging	Het
Rprd2	A	T	3: 95,765,676 (GRCm38)	V805E	possibly damaging	Het
Septin10	T	G	10: 59,166,606 (GRCm38)	E162A	probably damaging	Het
Septin12	G	T	16: 4,992,295 (GRCm38)	D125E	probably benign	Het
Serpina6	A	G	12: 103,654,473 (GRCm38)	Y6H	probably benign	Het
Serpinb3c	T	C	1: 107,272,787 (GRCm38)	M209V	probably damaging	Het
Slc2a7	A	T	4: 150,168,471 (GRCm38)	T523S	probably damaging	Het
Smdt1	T	C	15: 82,346,175 (GRCm38)	V31A	possibly damaging	Het
Snrnp48	T	C	13: 38,220,704 (GRCm38)	I245T	probably damaging	Het
Spink2	G	A	5: 77,206,965 (GRCm38)	T33I	probably damaging	Het
Sptan1	A	G	2: 30,027,127 (GRCm38)	T2204A	probably damaging	Het
Synj2	A	G	17: 6,025,017 (GRCm38)	D306G	probably benign	Het
Tas2r109	A	G	6: 132,980,910 (GRCm38)	I19T	possibly damaging	Het
Tbk1	C	T	10: 121,559,935 (GRCm38)	V418M	probably benign	Het
Tcerg1	A	G	18: 42,553,430 (GRCm38)	E684G	probably damaging	Het
Tenm2	T	C	11: 36,300,220 (GRCm38)	N308S	probably damaging	Het
Tfb2m	A	T	1: 179,537,861 (GRCm38)		probably null	Het
Tmc1	T	A	19: 20,816,122 (GRCm38)	L558F	probably damaging	Het
Tmprss5	T	A	9: 49,109,134 (GRCm38)	I80N	possibly damaging	Het
Trappc2l	G	A	8: 122,615,407 (GRCm38)	V131M	probably damaging	Het
Trpm7	A	C	2: 126,822,599 (GRCm38)	Y953*	probably null	Het
Ttn	T	C	2: 76,753,515 (GRCm38)	R22383G	probably damaging	Het
Ugt1a6b	G	A	1: 88,107,261 (GRCm38)	G107D	probably benign	Het
Vmn1r197	A	T	13: 22,328,350 (GRCm38)	Y147F	probably benign	Het
Zfp507	A	T	7: 35,794,801 (GRCm38)	N272K	possibly damaging	Het
Zfp526	G	A	7: 25,226,262 (GRCm38)	E649K	probably benign	Het
Zswim6	G	A	13: 107,727,234 (GRCm38)		noncoding transcript	Het

Other mutations in Aqp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Aqp2	APN	15	99,582,102 (GRCm38)	missense	possibly damaging	0.93
IGL01431:Aqp2	APN	15	99,579,420 (GRCm38)	missense	possibly damaging	0.54
R2049:Aqp2	UTSW	15	99,579,366 (GRCm38)	missense	probably damaging	1.00
R2074:Aqp2	UTSW	15	99,583,100 (GRCm38)	missense	probably benign	0.02
R2140:Aqp2	UTSW	15	99,579,366 (GRCm38)	missense	probably damaging	1.00
R5598:Aqp2	UTSW	15	99,579,112 (GRCm38)	start gained	probably benign
R6872:Aqp2	UTSW	15	99,584,004 (GRCm38)	missense	probably benign	0.00
R7228:Aqp2	UTSW	15	99,582,124 (GRCm38)	missense	probably benign	0.03
RF011:Aqp2	UTSW	15	99,583,872 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAACAAGTCGCCCTTGGCAG -3'
(R):5'- CGCAGAGATGGACGAGCACTTTTAC -3'

Sequencing Primer
(F):5'- CTTGGCAGCTCGTGATGAC -3'
(R):5'- AAGTGTCTGGTTCCCTGCAAG -3'

Posted On

2014-04-13