Mutagenetix > Incidental Mutation

Incidental Mutation 'RF011:Aqp2'

603227

Institutional Source

Beutler Lab

Gene Symbol

Aqp2

Ensembl Gene

ENSMUSG00000023013

Gene Name

aquaporin 2

Synonyms

Accession Numbers

Essential gene?

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

Stock #

RF011 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99476937-99482426 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99481753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 216 (S216P)

Ref Sequence

ENSEMBL: ENSMUSP00000023752 (fasta)

Gene Model

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

AlphaFold

P56402

Predicted Effect

probably damaging
Transcript: ENSMUST00000023752
AA Change: S216P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023752
Gene: ENSMUSG00000023013
AA Change: S216P

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: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
A030005L19Rik	TGCTG	TGCTGTGGCGGCTG	1: 82,891,307 (GRCm39)		probably benign	Het
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,891,294 (GRCm39)		probably benign	Het
AI837181	GCG	GCGTCG	19: 5,475,264 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Brd10	T	C	19: 29,721,009 (GRCm39)	K672R	possibly damaging	Het
Cacna1f	GGA	GGAAGA	X: 7,486,295 (GRCm39)		probably benign	Het
Ccdc170	CCA	CCAGCA	10: 4,511,018 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cela2a	T	C	4: 141,549,026 (GRCm39)	N117D	probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,811,774 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,350,375 (GRCm39)	S235R	probably benign	Het
Dnmt1	CACAGTTCCTACCTCGTT	CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT	9: 20,821,424 (GRCm39)		probably null	Het
Dnmt1	TT	TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT	9: 20,821,440 (GRCm39)		probably null	Het
E4f1	CCG	CCGTCG	17: 24,674,160 (GRCm39)		probably benign	Het
Fam171b	TCCAGCA	TCCAGCACCAGCA	2: 83,643,217 (GRCm39)		probably benign	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,419,435 (GRCm39)		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,384,619 (GRCm39)		probably null	Het
Flii	G	A	11: 60,607,069 (GRCm39)	A969V	probably benign	Het
Fscb	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	12: 64,519,768 (GRCm39)		probably benign	Het
Gas1	G	GAAA	13: 60,324,345 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,767,220 (GRCm39)	D115G	probably null	Het
Guca2b	G	T	4: 119,514,044 (GRCm39)	T89N	possibly damaging	Het
Hcn4	T	A	9: 58,767,198 (GRCm39)	S920T	unknown	Het
Heatr1	A	G	13: 12,422,425 (GRCm39)	M484V	probably benign	Het
Iba57	G	T	11: 59,054,438 (GRCm39)	A27E	probably benign	Het
Ifi207	G	C	1: 173,556,687 (GRCm39)	L684V	not run	Het
Ints13	T	C	6: 146,457,738 (GRCm39)	H380R	probably damaging	Het
Jmjd1c	C	T	10: 67,055,978 (GRCm39)	T466I	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kif12	C	CCTCCACCCGGCGGGG	4: 63,089,664 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,543,457 (GRCm39)	D1399E	probably damaging	Het
Macf1	A	T	4: 123,367,648 (GRCm39)	L2371Q	probably damaging	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,406,681 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,401 (GRCm39)		probably benign	Het
Mgam	C	A	6: 40,734,370 (GRCm39)	Q1472K	probably damaging	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Nalf2	CGCCGC	CGCCGCAGCCGC	X: 98,864,967 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,824,156 (GRCm39)	N167D	probably damaging	Het
Or4d10c	C	T	19: 12,065,611 (GRCm39)	V182I	probably benign	Het
Or5be3	T	A	2: 86,864,385 (GRCm39)	Y60F	probably damaging	Het
Osbpl3	CCTGCA	C	6: 50,325,118 (GRCm39)		probably benign	Het
Phf20	CCCCCCCCC	CCCCCCCCCCCCCCCC	2: 156,146,540 (GRCm39)		probably benign	Het
Phf20	CCCCCCCC	CCCCCCCCCCCCCCC	2: 156,146,541 (GRCm39)		probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rbm33	CCAGCCGCAGC	CCAGC	5: 28,599,179 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,281,878 (GRCm39)	F445S	probably damaging	Het
S100a10	TTTTTTTA	T	3: 93,471,541 (GRCm39)		probably benign	Het
Sbp	AA	AAAATGCTGACAACGGA	17: 24,164,328 (GRCm39)		probably benign	Het
Sec14l3	A	C	11: 4,017,963 (GRCm39)	Q81P	possibly damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,515 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,796 (GRCm39)		probably benign	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tox2	A	G	2: 163,067,484 (GRCm39)	I68V	probably benign	Het
Triml2	G	T	8: 43,636,201 (GRCm39)		probably benign	Het
Tspan33	A	G	6: 29,716,729 (GRCm39)	Y162C	probably damaging	Het
Zfp384	GGCCCAGGCCCA	GGCCCAGGCCCAAGCCCAGGCCCA	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp948	T	C	17: 21,808,574 (GRCm39)	Y589H	probably damaging	Het
Zic1	T	C	9: 91,246,383 (GRCm39)	I230V	probably benign	Het

Other mutations in Aqp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Aqp2	APN	15	99,479,983 (GRCm39)	missense	possibly damaging	0.93
IGL01431:Aqp2	APN	15	99,477,301 (GRCm39)	missense	possibly damaging	0.54
R1542:Aqp2	UTSW	15	99,481,723 (GRCm39)	missense	probably benign	0.00
R2049:Aqp2	UTSW	15	99,477,247 (GRCm39)	missense	probably damaging	1.00
R2074:Aqp2	UTSW	15	99,480,981 (GRCm39)	missense	probably benign	0.02
R2140:Aqp2	UTSW	15	99,477,247 (GRCm39)	missense	probably damaging	1.00
R5598:Aqp2	UTSW	15	99,476,993 (GRCm39)	start gained	probably benign
R6872:Aqp2	UTSW	15	99,481,885 (GRCm39)	missense	probably benign	0.00
R7228:Aqp2	UTSW	15	99,480,005 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCATAAGTCTTGACAATACCAGAGG -3'
(R):5'- AGTGTCTGGTTCCCTGCAAG -3'

Sequencing Primer
(F):5'- GTCTTGACAATACCAGAGGCACAG -3'
(R):5'- AGCTAGCTACCCTGCACTG -3'

Posted On

2019-12-04