Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Aqp4'

535285

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

MMRRC Submission

044958-MU

Accession Numbers

Essential gene?

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

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15522553-15544039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15532953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 47 (I47V)

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: I47V

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: I47V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,205,755 (GRCm39)	M156V	probably benign	Het
Aire	A	T	10: 77,866,089 (GRCm39)	F546I	probably damaging	Het
Ankk1	T	C	9: 49,331,320 (GRCm39)	E230G	probably benign	Het
Anp32a	A	T	9: 62,279,397 (GRCm39)	K86N	possibly damaging	Het
Arap3	A	G	18: 38,112,916 (GRCm39)	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,625,158 (GRCm39)	W1652R	probably damaging	Het
Atad2	T	A	15: 57,970,209 (GRCm39)	H464L	probably damaging	Het
Brca2	C	A	5: 150,463,673 (GRCm39)	H1146N	possibly damaging	Het
Capn9	G	A	8: 125,324,308 (GRCm39)	V203M	probably damaging	Het
Ccr6	T	A	17: 8,474,881 (GRCm39)	S29T	probably benign	Het
Cfap99	G	T	5: 34,467,561 (GRCm39)		probably null	Het
Cpt1c	C	T	7: 44,609,342 (GRCm39)	G716S	probably damaging	Het
Dhx29	A	T	13: 113,089,395 (GRCm39)	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,985,355 (GRCm39)	R201*	probably null	Het
Dsg2	G	A	18: 20,734,859 (GRCm39)	G946S	probably damaging	Het
Erg	C	A	16: 95,169,510 (GRCm39)		probably null	Het
Fbxo32	G	A	15: 58,078,037 (GRCm39)		probably benign	Het
Gask1b	G	T	3: 79,793,448 (GRCm39)		probably benign	Het
Glis1	T	G	4: 107,293,076 (GRCm39)	D66E	probably damaging	Het
Grm6	A	T	11: 50,750,652 (GRCm39)	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,125,668 (GRCm39)	E183G	probably benign	Het
Herc1	A	G	9: 66,305,180 (GRCm39)	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,835,513 (GRCm39)	S80T	probably damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnt2	T	C	1: 140,523,742 (GRCm39)	S1057P	probably damaging	Het
Krt36	T	G	11: 99,994,216 (GRCm39)	Q287P	probably damaging	Het
Ldhd	A	G	8: 112,356,906 (GRCm39)	S13P	probably benign	Het
Lmtk3	T	A	7: 45,443,721 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,343,612 (GRCm39)	F916I	probably damaging	Het
Map4k1	A	T	7: 28,686,259 (GRCm39)	I92F	probably damaging	Het
Naa25	A	T	5: 121,576,867 (GRCm39)	K872M	probably damaging	Het
Nek3	C	A	8: 22,619,463 (GRCm39)	G443V	probably damaging	Het
Noxred1	T	C	12: 87,273,810 (GRCm39)	E77G	probably benign	Het
Nup210	G	A	6: 91,064,895 (GRCm39)	Q202*	probably null	Het
Or52d1	A	T	7: 103,755,998 (GRCm39)	M171L	probably benign	Het
Or8k27	G	T	2: 86,276,251 (GRCm39)	S25Y	probably benign	Het
Pax3	A	G	1: 78,109,056 (GRCm39)	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,866,457 (GRCm39)	Y751N	probably benign	Het
Pign	A	T	1: 105,481,620 (GRCm39)	L792*	probably null	Het
Pkd1	T	C	17: 24,792,467 (GRCm39)	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,048,523 (GRCm39)	C629G	probably benign	Het
Prpsap2	A	T	11: 61,621,097 (GRCm39)	I328N	probably benign	Het
Prrc2c	A	G	1: 162,509,940 (GRCm39)	L2317P	probably damaging	Het
Ptgfrn	T	C	3: 100,952,762 (GRCm39)	D824G	probably damaging	Het
Ptpra	G	A	2: 130,361,301 (GRCm39)	S204N	probably damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rap1a	A	G	3: 105,639,384 (GRCm39)	F92L	probably damaging	Het
Slmap	A	T	14: 26,151,247 (GRCm39)		probably null	Het
Spdye4c	A	G	2: 128,438,050 (GRCm39)		probably null	Het
Speer4a3	A	G	5: 26,155,843 (GRCm39)	I167T	probably benign	Het
Stk11	C	A	10: 79,963,924 (GRCm39)	F97L	probably benign	Het
Tbc1d9b	G	A	11: 50,059,573 (GRCm39)	A992T	probably benign	Het
Tmem232	G	A	17: 65,757,305 (GRCm39)	T296M	possibly damaging	Het
Trim33	C	T	3: 103,259,365 (GRCm39)	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,475,441 (GRCm39)	I285L	probably benign	Het
Usp46	A	G	5: 74,189,595 (GRCm39)		probably benign	Het
Vmn1r27	T	A	6: 58,192,432 (GRCm39)	M191L	possibly damaging	Het
Vwf	G	T	6: 125,619,113 (GRCm39)	E1264*	probably null	Het
Zfp109	A	T	7: 23,928,823 (GRCm39)	N195K	probably benign	Het
Zfp385b	T	A	2: 77,246,138 (GRCm39)	L208F	probably damaging	Het
Zfp839	T	A	12: 110,833,195 (GRCm39)	Y515*	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
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
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'- CTACAGTCACAGCGGGATTG -3'
(R):5'- GTGTTCAGCAAACCATCGCC -3'

Sequencing Primer
(F):5'- CGGGATTGATGTGGCCAC -3'
(R):5'- CCCAGATTTCAATGTGCCTTCCAG -3'

Posted On

2018-09-12