Mutagenetix > Incidental Mutation

Incidental Mutation 'R8759:Aqp4'

671817

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

MMRRC Submission

068718-MU

Accession Numbers

Essential gene?

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

Stock #

R8759 (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 G at 15533048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 15 (H15P)

Ref Sequence

ENSEMBL: ENSMUSP00000078088 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079081
AA Change: H15P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: H15P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,365,916 (GRCm39)	T276A	probably benign	Het
6030468B19Rik	T	C	11: 117,697,112 (GRCm39)	V237A	probably benign	Het
Abca15	G	A	7: 120,006,631 (GRCm39)	V1632M	probably damaging	Het
Adamts18	G	A	8: 114,433,624 (GRCm39)	P1037S	probably damaging	Het
Apol7e	T	C	15: 77,602,065 (GRCm39)	V221A	probably benign	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm39)	R80S	probably benign	Het
Cdh15	A	G	8: 123,587,628 (GRCm39)	D184G	probably damaging	Het
Cers3	G	A	7: 66,435,850 (GRCm39)	V270M	probably damaging	Het
Ces3a	A	G	8: 105,784,129 (GRCm39)	H443R	probably damaging	Het
Cntn1	T	G	15: 92,153,801 (GRCm39)	F485V	possibly damaging	Het
Cog6	A	G	3: 52,897,465 (GRCm39)	L536P	probably damaging	Het
Copa	A	G	1: 171,947,081 (GRCm39)	I1068M	probably benign	Het
Ddx50	T	C	10: 62,452,021 (GRCm39)	D734G	unknown	Het
Dgkz	T	C	2: 91,775,922 (GRCm39)	T114A	probably benign	Het
Dock2	A	T	11: 34,586,067 (GRCm39)	D538E	probably benign	Het
Drg1	T	C	11: 3,204,633 (GRCm39)	S198G	probably benign	Het
Epn3	C	A	11: 94,386,848 (GRCm39)	G174V	possibly damaging	Het
Ficd	G	T	5: 113,876,575 (GRCm39)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,708,005 (GRCm39)	S377P	probably benign	Het
Gm17027	T	C	14: 41,981,251 (GRCm39)	I202V		Het
H6pd	C	T	4: 150,066,758 (GRCm39)	V551I	probably benign	Het
Ighg1	A	T	12: 113,292,657 (GRCm39)	L304*	probably null	Het
Itga8	T	C	2: 12,266,940 (GRCm39)	D165G	probably damaging	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Lrrc37a	A	G	11: 103,348,766 (GRCm39)	V2643A	unknown	Het
Lyz3	T	A	10: 117,070,340 (GRCm39)	I146F	probably damaging	Het
Mast2	A	T	4: 116,292,757 (GRCm39)	F71Y	possibly damaging	Het
Mkrn1	C	A	6: 39,376,344 (GRCm39)	E421*	probably null	Het
Myo3a	G	T	2: 22,448,319 (GRCm39)	K969N	possibly damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Nrg1	C	A	8: 32,308,103 (GRCm39)	A686S	probably damaging	Het
Or52e8	T	C	7: 104,624,325 (GRCm39)	N293S	probably damaging	Het
Plxna4	T	A	6: 32,169,276 (GRCm39)	D1307V	probably damaging	Het
Ppihl	A	T	5: 44,070,999 (GRCm39)	N119I	probably benign	Het
Ppp1r13l	G	T	7: 19,103,981 (GRCm39)	G154V	probably damaging	Het
Psmc5	A	G	11: 106,153,687 (GRCm39)	D382G	probably benign	Het
Ptch2	T	C	4: 116,967,630 (GRCm39)	L766P	probably damaging	Het
Rev1	A	C	1: 38,098,353 (GRCm39)	L730R	probably damaging	Het
Rin3	G	A	12: 102,339,861 (GRCm39)	V684I	probably damaging	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,497,134 (GRCm39)	C136Y	probably damaging	Het
Shprh	T	G	10: 11,032,908 (GRCm39)	V298G	possibly damaging	Het
Slc37a4	C	T	9: 44,313,632 (GRCm39)	T386I	probably benign	Het
Slc4a3	T	C	1: 75,531,282 (GRCm39)	I825T	probably damaging	Het
Spta1	C	T	1: 174,040,940 (GRCm39)	L1247F	probably damaging	Het
Tigar	A	T	6: 127,068,220 (GRCm39)	I66K	probably benign	Het
Tln2	T	C	9: 67,274,500 (GRCm39)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,398,633 (GRCm39)		probably benign	Het
Tnc	G	A	4: 63,924,501 (GRCm39)	R1066C	possibly damaging	Het
Ubqlnl	T	A	7: 103,799,206 (GRCm39)	H97L	probably damaging	Het
Vmn1r13	A	G	6: 57,187,524 (GRCm39)	T228A	probably damaging	Het
Xab2	T	C	8: 3,661,672 (GRCm39)	T594A	probably benign	Het
Zc3h18	A	G	8: 123,138,124 (GRCm39)	E687G	unknown	Het
Zfp831	A	G	2: 174,487,874 (GRCm39)	T850A	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
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
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'- TGCTGAGTCCAAAGCAAAGG -3'
(R):5'- AAATCACAGGCCTCTCGTCTAC -3'

Sequencing Primer
(F):5'- CAAAGGGAGATGAGGACCATGTC -3'
(R):5'- GGCCTCTCGTCTACTAATTAAGGAG -3'

Posted On

2021-04-30