Mutagenetix > Incidental Mutation

Incidental Mutation 'R8206:Aqp4'

635939

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

MMRRC Submission

067629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8206 (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 15526716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 255 (D255V)

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: D255V

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: D255V

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: 99.0%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	G	10: 88,860,958 (GRCm39)	Y342H	probably damaging	Het
Arhgap26	C	A	18: 39,439,803 (GRCm39)	S247*	probably null	Het
Arid4a	A	G	12: 71,133,361 (GRCm39)	D1154G	probably damaging	Het
Atpaf2	A	G	11: 60,295,304 (GRCm39)	I182T	probably damaging	Het
Cacna1i	C	A	15: 80,274,016 (GRCm39)		probably null	Het
Ccdc38	A	G	10: 93,399,146 (GRCm39)	S205G	probably damaging	Het
Cep63	A	G	9: 102,498,470 (GRCm39)		probably benign	Het
Cripto	G	A	9: 110,773,352 (GRCm39)		probably benign	Het
Cyp24a1	T	C	2: 170,333,589 (GRCm39)	T255A	possibly damaging	Het
Dlg5	A	G	14: 24,210,336 (GRCm39)	S787P	possibly damaging	Het
Dnah6	A	T	6: 73,014,549 (GRCm39)	C3679*	probably null	Het
Dpy19l3	T	C	7: 35,429,155 (GRCm39)	Y95C	probably damaging	Het
Erc2	G	A	14: 28,024,972 (GRCm39)		probably null	Het
Ezh2	A	T	6: 47,509,834 (GRCm39)		probably null	Het
Fgfr1	A	G	8: 26,060,258 (GRCm39)	T463A	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,820,808 (GRCm39)	S5514P	possibly damaging	Het
Glrb	A	G	3: 80,758,373 (GRCm39)	Y347H	probably damaging	Het
Gm14325	C	A	2: 177,474,767 (GRCm39)	C105F	probably damaging	Het
Hgsnat	T	C	8: 26,444,665 (GRCm39)	T428A	probably damaging	Het
Ighv1-76	T	C	12: 115,811,934 (GRCm39)	M1V	probably null	Het
Inppl1	A	G	7: 101,472,783 (GRCm39)	I1207T	possibly damaging	Het
Kmt2c	T	A	5: 25,519,537 (GRCm39)	Q2191L	probably damaging	Het
Krt79	T	A	15: 101,848,705 (GRCm39)		probably null	Het
Mast4	G	A	13: 102,872,247 (GRCm39)	L2374F	probably damaging	Het
Mgam	A	G	6: 40,657,169 (GRCm39)	N951S	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip6	A	T	13: 100,431,344 (GRCm39)	C1164*	probably null	Het
Nfatc2ip	G	T	7: 125,989,906 (GRCm39)	D189E	probably damaging	Het
Nrp1	A	G	8: 129,184,438 (GRCm39)	D361G	probably damaging	Het
Nrp2	T	C	1: 62,786,374 (GRCm39)	I293T	probably damaging	Het
Pate5	A	T	9: 35,750,719 (GRCm39)	F34L	possibly damaging	Het
Pde3a	T	C	6: 141,433,611 (GRCm39)	V831A	probably damaging	Het
Pirb	A	G	7: 3,715,905 (GRCm39)		probably null	Het
Plch1	G	T	3: 63,610,047 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,898,277 (GRCm39)	T973A	possibly damaging	Het
Ppp1r35	T	A	5: 137,778,296 (GRCm39)	I97K	unknown	Het
Ppp1r3c	C	T	19: 36,710,846 (GRCm39)	G308E	probably benign	Het
Prss12	G	A	3: 123,258,611 (GRCm39)		probably null	Het
Rad51b	A	G	12: 79,361,715 (GRCm39)	D142G	probably damaging	Het
Slc13a3	C	T	2: 165,248,745 (GRCm39)	G553D	probably damaging	Het
Spata31d1d	A	C	13: 59,879,344 (GRCm39)	V64G	probably benign	Het
Srp68	G	A	11: 116,164,809 (GRCm39)	R42C	probably damaging	Het
Syne2	T	C	12: 76,062,365 (GRCm39)	V4229A	probably benign	Het
Tas2r144	G	A	6: 42,192,325 (GRCm39)	V22M	probably damaging	Het
Tcf7l1	A	G	6: 72,604,395 (GRCm39)	L583P	probably damaging	Het
Tdrd3	A	G	14: 87,749,214 (GRCm39)	D708G	probably benign	Het
Tns4	A	T	11: 98,976,627 (GRCm39)	L98Q	probably damaging	Het
Zfp677	T	A	17: 21,612,717 (GRCm39)		probably null	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
R7839:Aqp4	UTSW	18	15,532,737 (GRCm39)	missense	possibly damaging	0.51
R8191:Aqp4	UTSW	18	15,531,222 (GRCm39)	missense	probably benign
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'- GGAAGACAATACCTCTCCCG -3'
(R):5'- GGGTCTTGAGAGTAGCCTAAGTC -3'

Sequencing Primer
(F):5'- TCCCGAAGAGTCTTTCCCC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2020-07-13