Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Aqp4'

455162

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

MMRRC Submission

044078-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R5870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15389394-15403684 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 15399889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 49 (V49G)

Ref Sequence

ENSEMBL: ENSMUSP00000078088 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079081
AA Change: V49G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: V49G

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

Meta Mutation Damage Score

0.9154

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,418,368	V156A	probably damaging	Het
Ak6	C	A	13: 100,655,424	P125Q	probably damaging	Het
Arfgef1	A	G	1: 10,180,938	I874T	probably damaging	Het
Arid1a	T	C	4: 133,681,076	D2040G	unknown	Het
Atp1a3	T	G	7: 24,997,578	D220A	probably benign	Het
C2cd4c	A	T	10: 79,612,209	I368N	possibly damaging	Het
Ccnt1	G	A	15: 98,543,513	Q625*	probably null	Het
Cd177	T	A	7: 24,756,332	H255L	probably benign	Het
Cdipt	G	A	7: 126,978,922	V114M	probably benign	Het
Coro1b	T	A	19: 4,149,385	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,408,686	D158V	unknown	Het
Cts7	A	T	13: 61,355,731	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,195,709	L366*	probably null	Het
Dnah9	C	T	11: 66,085,210	A1338T	probably benign	Het
Dock7	T	C	4: 99,063,962	I424V	probably benign	Het
Dock8	G	T	19: 25,132,126	A891S	probably benign	Het
Elmod3	A	G	6: 72,594,738		probably null	Het
Eps15	G	A	4: 109,361,310	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744		probably null	Het
Fuz	A	G	7: 44,900,318	T407A	probably damaging	Het
Galr1	A	T	18: 82,406,072	F27I	probably benign	Het
Glt1d1	A	G	5: 127,677,280	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,690,521		probably benign	Het
Gm37610	A	G	6: 41,084,914		noncoding transcript	Het
Gm6658	G	T	8: 90,908,392		probably benign	Het
Gm9376	A	G	14: 118,267,377	T74A	possibly damaging	Het
Hadha	G	A	5: 30,144,286	S109F	possibly damaging	Het
Herc3	A	T	6: 58,916,450	Q899L	probably benign	Het
Ift172	C	T	5: 31,276,940	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,235,725	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,763,532	V10D	possibly damaging	Het
Med27	A	G	2: 29,389,811		probably null	Het
Med29	A	T	7: 28,392,497	V56E	probably damaging	Het
Mobp	A	G	9: 120,167,853	K17E	probably damaging	Het
Mrpl37	G	A	4: 107,066,722	T25I	probably benign	Het
Myh1	A	G	11: 67,201,979	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,472,629	I58F	possibly damaging	Het
Olfr589	A	G	7: 103,155,741	I2T	probably benign	Het
Olfr872	A	G	9: 20,260,578	D246G	probably benign	Het
Padi1	T	A	4: 140,826,581	D359V	probably benign	Het
Pcdh7	T	C	5: 57,720,411	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,570,361	K15N	probably damaging	Het
Phip	A	T	9: 82,908,677		probably benign	Het
Pot1a	G	A	6: 25,778,951	T48I	possibly damaging	Het
Ppic	T	C	18: 53,409,261	K125R	probably benign	Het
Ppm1j	T	C	3: 104,785,495	V440A	possibly damaging	Het
Prg4	T	A	1: 150,455,549	K458*	probably null	Het
Rd3	A	T	1: 191,985,300	M244L	probably benign	Het
Rflnb	A	G	11: 76,022,038	Y175H	probably benign	Het
Rnf157	T	A	11: 116,347,074	S574C	probably benign	Het
Sardh	A	G	2: 27,220,641		probably null	Het
Senp3	C	T	11: 69,678,222		probably null	Het
Siglec1	G	A	2: 131,072,847	R1450C	probably damaging	Het
Sim2	A	G	16: 94,123,334	H446R	probably damaging	Het
Spon1	T	C	7: 114,031,786	I444T	probably damaging	Het
Srebf1	T	A	11: 60,203,584	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,537,956	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,609,011	V163I	probably benign	Het
Surf1	G	T	2: 26,916,259		probably benign	Het
Synj2	A	G	17: 6,037,853	E1348G	probably benign	Het
Tc2n	A	T	12: 101,652,852	V349D	probably damaging	Het
Ten1	A	G	11: 116,214,925	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,194,281	D321G	probably damaging	Het
Ttll12	A	T	15: 83,577,036	M594K	probably damaging	Het
Ttn	T	A	2: 76,872,714		probably benign	Het
Usp28	C	T	9: 49,025,985	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,619,023	I822V	probably benign	Het
Wdr60	A	G	12: 116,256,245	S26P	possibly damaging	Het
Zc3hc1	A	T	6: 30,382,683	L88*	probably null	Het
Zfr	T	A	15: 12,160,615	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,171,671	L42R	probably benign	Het

Other mutations in Aqp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Aqp4	APN	18	15393599	missense	probably benign	0.01
IGL01700:Aqp4	APN	18	15399865	missense	probably benign	0.44
IGL02409:Aqp4	APN	18	15399725	missense	probably benign	0.02
IGL02812:Aqp4	APN	18	15397575	splice site	probably null
IGL03157:Aqp4	APN	18	15399980	missense	probably benign	0.18
IGL03196:Aqp4	APN	18	15393509	missense	probably benign	0.19
R0358:Aqp4	UTSW	18	15398245	missense	probably benign
R1061:Aqp4	UTSW	18	15398191	missense	probably damaging	1.00
R1981:Aqp4	UTSW	18	15393551	missense	probably damaging	0.98
R1982:Aqp4	UTSW	18	15393551	missense	probably damaging	0.98
R2274:Aqp4	UTSW	18	15393480	missense	probably benign
R3033:Aqp4	UTSW	18	15393560	missense	possibly damaging	0.80
R4608:Aqp4	UTSW	18	15398126	missense	probably benign	0.25
R4817:Aqp4	UTSW	18	15399758	missense	probably damaging	1.00
R4882:Aqp4	UTSW	18	15398254	missense	possibly damaging	0.73
R6235:Aqp4	UTSW	18	15398113	missense	probably damaging	1.00
R6334:Aqp4	UTSW	18	15393591	missense	probably benign
R6856:Aqp4	UTSW	18	15399896	missense	possibly damaging	0.88
R7753:Aqp4	UTSW	18	15399976	missense	probably benign	0.00
R7839:Aqp4	UTSW	18	15399680	missense	possibly damaging	0.51
R8191:Aqp4	UTSW	18	15398165	missense	probably benign
R8206:Aqp4	UTSW	18	15393659	missense	possibly damaging	0.88
R8759:Aqp4	UTSW	18	15399991	missense	probably benign
R9614:Aqp4	UTSW	18	15393630	missense	probably benign	0.01
T0970:Aqp4	UTSW	18	15399883	missense	probably damaging	1.00
Z1177:Aqp4	UTSW	18	15399881	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CACCATGGCTACAGTCACAG -3'
(R):5'- TGTTCAGCAAACCATCGCC -3'

Sequencing Primer
(F):5'- CTACAGTCACAGCGGGATTG -3'
(R):5'- AGATTTCAATGTGCCTTCCAGCTG -3'

Posted On

2017-02-10