Mutagenetix > Incidental Mutation

Incidental Mutation 'R7839:Aqp4'

606190

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

MMRRC Submission

045893-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7839 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15522553-15544039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15532737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 119 (I119F)

Ref Sequence

ENSEMBL: ENSMUSP00000078088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079081]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079081
AA Change: I119F

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: I119F

Domain	Start	End	E-Value	Type
Pfam:MIP	29	248	8.7e-76	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted mutation exhibit decreased urine osmolality associated with reduced water permeability in inner medullary collecting ducts, increased survival rates and reduced brain edema after acute water intoxication and ischemic stroke, aswell as significant hearing impairment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,025,085 (GRCm39)	M986K	probably benign	Het
Adcyap1	A	G	17: 93,511,413 (GRCm39)	K129R	probably benign	Het
Anapc1	T	C	2: 128,526,528 (GRCm39)	D90G	probably damaging	Het
Ankrd17	G	A	5: 90,411,213 (GRCm39)	H1361Y	probably damaging	Het
Bfsp1	T	A	2: 143,673,770 (GRCm39)	I313F	possibly damaging	Het
Cxcl9	A	G	5: 92,475,869 (GRCm39)	V5A	probably benign	Het
Cyfip1	G	A	7: 55,536,483 (GRCm39)	V304M	probably damaging	Het
Cyp2d22	A	G	15: 82,256,772 (GRCm39)	V334A	probably damaging	Het
Cyp2j12	A	G	4: 95,987,893 (GRCm39)	V499A	possibly damaging	Het
Cyth3	A	G	5: 143,683,509 (GRCm39)	E136G	probably benign	Het
Degs2	CTTAGTGAAT	CT	12: 108,658,460 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,606,334 (GRCm39)	S1229P	probably benign	Het
Dop1a	T	A	9: 86,424,818 (GRCm39)	C2087*	probably null	Het
Dop1b	A	T	16: 93,560,829 (GRCm39)	H889L	probably damaging	Het
Elf1	A	G	14: 79,773,855 (GRCm39)	E22G	probably benign	Het
Gbgt1	T	C	2: 28,393,182 (GRCm39)	V90A	probably damaging	Het
Glis3	T	C	19: 28,294,773 (GRCm39)	D675G	possibly damaging	Het
Glt8d1	G	T	14: 30,723,788 (GRCm39)		probably benign	Het
Gzf1	T	A	2: 148,525,815 (GRCm39)	Y95*	probably null	Het
Insig2	T	C	1: 121,240,049 (GRCm39)	I84V	probably benign	Het
Mapkapk2	A	G	1: 131,025,256 (GRCm39)	S3P	unknown	Het
Nell2	T	C	15: 95,196,819 (GRCm39)	N499S	probably benign	Het
Nlrp9b	G	A	7: 19,758,398 (GRCm39)	R545H	possibly damaging	Het
Obox7	T	A	7: 14,399,350 (GRCm39)	I192N	probably benign	Het
Or10ad1	T	C	15: 98,106,026 (GRCm39)	I80V	probably damaging	Het
Or6c76b	A	T	10: 129,692,899 (GRCm39)	I171F	possibly damaging	Het
Plec	A	T	15: 76,060,583 (GRCm39)	V3118E	probably damaging	Het
Plk3	T	C	4: 116,986,527 (GRCm39)	T571A	probably damaging	Het
Ppa2	T	C	3: 133,082,351 (GRCm39)		probably null	Het
Rabl6	A	T	2: 25,482,829 (GRCm39)	H183Q	probably damaging	Het
Rad51ap2	T	A	12: 11,507,238 (GRCm39)	S387T	possibly damaging	Het
Rbm33	A	G	5: 28,573,397 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,322,055 (GRCm39)	S724P	probably damaging	Het
Rtf2	T	C	2: 172,308,253 (GRCm39)		probably null	Het
Sft2d1rt	T	C	11: 45,942,887 (GRCm39)	T79A	possibly damaging	Het
Slc45a2	A	T	15: 11,027,835 (GRCm39)	Q468L	probably benign	Het
Slc6a15	A	G	10: 103,240,660 (GRCm39)	I428V	probably benign	Het
Sp140l2	C	T	1: 85,224,736 (GRCm39)	M266I	probably benign	Het
Taar7f	C	A	10: 23,925,967 (GRCm39)	A187E	possibly damaging	Het
Tmt1a	T	C	15: 100,202,957 (GRCm39)	V77A	possibly damaging	Het
Tob1	T	A	11: 94,104,598 (GRCm39)	Y45N	probably damaging	Het
Trappc10	A	G	10: 78,024,646 (GRCm39)	V1161A	possibly damaging	Het
Trbv13-2	T	C	6: 41,098,521 (GRCm39)	V32A	probably benign	Het
Trpm8	T	A	1: 88,254,176 (GRCm39)	L133Q	possibly damaging	Het
Ttn	T	C	2: 76,538,512 (GRCm39)	T34729A	probably benign	Het
Uba6	G	T	5: 86,270,271 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,840,596 (GRCm39)	D85G	possibly damaging	Het
Vmn1r176	T	C	7: 23,534,394 (GRCm39)	D253G	possibly damaging	Het
Vmn2r34	T	A	7: 7,687,173 (GRCm39)	I175F	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,032 (GRCm39)	I215N	probably damaging	Het
Vwa5a	C	A	9: 38,634,799 (GRCm39)	S202R	probably damaging	Het
Zfp383	G	A	7: 29,614,483 (GRCm39)	C246Y	probably damaging	Het
Zfp40	T	C	17: 23,395,963 (GRCm39)	D208G	probably damaging	Het
Zfp992	C	A	4: 146,550,875 (GRCm39)	L199I	probably benign	Het

Other mutations in Aqp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Aqp4	APN	18	15,526,656 (GRCm39)	missense	probably benign	0.01
IGL01700:Aqp4	APN	18	15,532,922 (GRCm39)	missense	probably benign	0.44
IGL02409:Aqp4	APN	18	15,532,782 (GRCm39)	missense	probably benign	0.02
IGL02812:Aqp4	APN	18	15,530,632 (GRCm39)	splice site	probably null
IGL03157:Aqp4	APN	18	15,533,037 (GRCm39)	missense	probably benign	0.18
IGL03196:Aqp4	APN	18	15,526,566 (GRCm39)	missense	probably benign	0.19
R0358:Aqp4	UTSW	18	15,531,302 (GRCm39)	missense	probably benign
R1061:Aqp4	UTSW	18	15,531,248 (GRCm39)	missense	probably damaging	1.00
R1981:Aqp4	UTSW	18	15,526,608 (GRCm39)	missense	probably damaging	0.98
R1982:Aqp4	UTSW	18	15,526,608 (GRCm39)	missense	probably damaging	0.98
R2274:Aqp4	UTSW	18	15,526,537 (GRCm39)	missense	probably benign
R3033:Aqp4	UTSW	18	15,526,617 (GRCm39)	missense	possibly damaging	0.80
R4608:Aqp4	UTSW	18	15,531,183 (GRCm39)	missense	probably benign	0.25
R4817:Aqp4	UTSW	18	15,532,815 (GRCm39)	missense	probably damaging	1.00
R4882:Aqp4	UTSW	18	15,531,311 (GRCm39)	missense	possibly damaging	0.73
R5870:Aqp4	UTSW	18	15,532,946 (GRCm39)	missense	probably damaging	1.00
R6235:Aqp4	UTSW	18	15,531,170 (GRCm39)	missense	probably damaging	1.00
R6334:Aqp4	UTSW	18	15,526,648 (GRCm39)	missense	probably benign
R6856:Aqp4	UTSW	18	15,532,953 (GRCm39)	missense	possibly damaging	0.88
R7753:Aqp4	UTSW	18	15,533,033 (GRCm39)	missense	probably benign	0.00
R8191:Aqp4	UTSW	18	15,531,222 (GRCm39)	missense	probably benign
R8206:Aqp4	UTSW	18	15,526,716 (GRCm39)	missense	possibly damaging	0.88
R8759:Aqp4	UTSW	18	15,533,048 (GRCm39)	missense	probably benign
R9614:Aqp4	UTSW	18	15,526,687 (GRCm39)	missense	probably benign	0.01
T0970:Aqp4	UTSW	18	15,532,940 (GRCm39)	missense	probably damaging	1.00
Z1177:Aqp4	UTSW	18	15,532,938 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CATTGGCCACCTTTCACCAG -3'
(R):5'- GAATTTCTGGCCACGCTTATC -3'

Sequencing Primer
(F):5'- TTCACCAGAGTTTGCAAGCACATG -3'
(R):5'- CCATAAACTGGGGTGGCTCAG -3'

Posted On

2019-12-20