Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:Aqp4'

94556

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

MMRRC Submission

039147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15389394-15403684 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15398191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 171 (V171E)

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: V171E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: V171E

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,277,809 (GRCm38)	A715T	probably benign	Het
Ampd2	A	G	3: 108,075,689 (GRCm38)	Y641H	probably damaging	Het
Arid4a	T	A	12: 71,074,955 (GRCm38)	S381R	probably damaging	Het
Armc8	T	G	9: 99,537,731 (GRCm38)	N51H	probably damaging	Het
Asic5	T	A	3: 82,021,001 (GRCm38)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,164,069 (GRCm38)	K471*	probably null	Het
Birc6	A	G	17: 74,689,312 (GRCm38)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,527,435 (GRCm38)	I139T	probably benign	Het
Ccdc114	T	C	7: 45,941,755 (GRCm38)	I218T	probably damaging	Het
Ccdc60	C	A	5: 116,172,468 (GRCm38)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,309,169 (GRCm38)	A226V	probably benign	Het
Cog1	T	G	11: 113,652,037 (GRCm38)	S170A	probably benign	Het
Cwc15	T	C	9: 14,507,915 (GRCm38)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,986,833 (GRCm38)	D333E	probably benign	Het
Ddc	C	T	11: 11,829,132 (GRCm38)	V331I	probably benign	Het
Dlc1	T	A	8: 36,858,051 (GRCm38)	T367S	probably benign	Het
Dnah17	T	C	11: 118,052,688 (GRCm38)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,545,065 (GRCm38)	Y165*	probably null	Het
Eml6	T	C	11: 29,777,267 (GRCm38)	D1285G	probably damaging	Het
Fam92b	C	A	8: 120,169,704 (GRCm38)		probably null	Het
Fasn	T	C	11: 120,822,182 (GRCm38)		probably null	Het
Fbn1	T	C	2: 125,345,963 (GRCm38)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Flvcr1	A	T	1: 191,008,173 (GRCm38)	V550E	probably benign	Het
Gcm2	A	G	13: 41,105,871 (GRCm38)	W41R	probably damaging	Het
Gli2	A	T	1: 118,854,517 (GRCm38)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,150,307 (GRCm38)	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,204,155 (GRCm38)	S66T	probably benign	Het
Hsph1	A	T	5: 149,618,418 (GRCm38)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,796,862 (GRCm38)	V220M	probably damaging	Het
Klhl25	T	A	7: 75,866,520 (GRCm38)	Y391*	probably null	Het
Mc2r	A	T	18: 68,407,809 (GRCm38)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,156,584 (GRCm38)	D106E	probably benign	Het
Nup43	G	T	10: 7,667,671 (GRCm38)	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,326,363 (GRCm38)	E197D	probably damaging	Het
Olfr1098	A	T	2: 86,922,782 (GRCm38)	V250D	possibly damaging	Het
Olfr484	T	C	7: 108,124,456 (GRCm38)	Y269C	probably damaging	Het
Olfr544	T	A	7: 102,484,114 (GRCm38)	*335C	probably null	Het
Olfr934	C	A	9: 38,982,483 (GRCm38)	C187F	probably damaging	Het
Pitrm1	A	G	13: 6,555,575 (GRCm38)	H186R	probably damaging	Het
Pklr	C	T	3: 89,144,881 (GRCm38)	R467C	probably damaging	Het
Plxna2	A	G	1: 194,644,093 (GRCm38)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,508,614 (GRCm38)		probably null	Het
R3hcc1l	C	T	19: 42,583,426 (GRCm38)	R135*	probably null	Het
Ralyl	A	C	3: 14,115,701 (GRCm38)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
S100a1	T	C	3: 90,511,312 (GRCm38)	N65S	probably damaging	Het
Scn11a	A	T	9: 119,795,663 (GRCm38)	M531K	probably damaging	Het
Slc5a5	T	A	8: 70,890,221 (GRCm38)	M232L	probably benign	Het
Tet3	A	T	6: 83,373,323 (GRCm38)	N1054K	probably damaging	Het
Tg	A	G	15: 66,698,559 (GRCm38)	N1427D	probably benign	Het
Tns1	A	C	1: 73,917,672 (GRCm38)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,245,873 (GRCm38)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,768,706 (GRCm38)	E40G	probably damaging	Het
Usp34	T	C	11: 23,384,420 (GRCm38)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,061,644 (GRCm38)	T726I	probably benign	Het
Vmn2r97	A	T	17: 18,928,178 (GRCm38)	R112*	probably null	Het
Vwa2	G	T	19: 56,908,994 (GRCm38)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,157,430 (GRCm38)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,992,799 (GRCm38)		probably null	Het
Wrap53	A	G	11: 69,562,400 (GRCm38)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,611,989 (GRCm38)	W216L	probably damaging	Het

Other mutations in Aqp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Aqp4	APN	18	15,393,599 (GRCm38)	missense	probably benign	0.01
IGL01700:Aqp4	APN	18	15,399,865 (GRCm38)	missense	probably benign	0.44
IGL02409:Aqp4	APN	18	15,399,725 (GRCm38)	missense	probably benign	0.02
IGL02812:Aqp4	APN	18	15,397,575 (GRCm38)	splice site	probably null
IGL03157:Aqp4	APN	18	15,399,980 (GRCm38)	missense	probably benign	0.18
IGL03196:Aqp4	APN	18	15,393,509 (GRCm38)	missense	probably benign	0.19
R0358:Aqp4	UTSW	18	15,398,245 (GRCm38)	missense	probably benign
R1981:Aqp4	UTSW	18	15,393,551 (GRCm38)	missense	probably damaging	0.98
R1982:Aqp4	UTSW	18	15,393,551 (GRCm38)	missense	probably damaging	0.98
R2274:Aqp4	UTSW	18	15,393,480 (GRCm38)	missense	probably benign
R3033:Aqp4	UTSW	18	15,393,560 (GRCm38)	missense	possibly damaging	0.80
R4608:Aqp4	UTSW	18	15,398,126 (GRCm38)	missense	probably benign	0.25
R4817:Aqp4	UTSW	18	15,399,758 (GRCm38)	missense	probably damaging	1.00
R4882:Aqp4	UTSW	18	15,398,254 (GRCm38)	missense	possibly damaging	0.73
R5870:Aqp4	UTSW	18	15,399,889 (GRCm38)	missense	probably damaging	1.00
R6235:Aqp4	UTSW	18	15,398,113 (GRCm38)	missense	probably damaging	1.00
R6334:Aqp4	UTSW	18	15,393,591 (GRCm38)	missense	probably benign
R6856:Aqp4	UTSW	18	15,399,896 (GRCm38)	missense	possibly damaging	0.88
R7753:Aqp4	UTSW	18	15,399,976 (GRCm38)	missense	probably benign	0.00
R7839:Aqp4	UTSW	18	15,399,680 (GRCm38)	missense	possibly damaging	0.51
R8191:Aqp4	UTSW	18	15,398,165 (GRCm38)	missense	probably benign
R8206:Aqp4	UTSW	18	15,393,659 (GRCm38)	missense	possibly damaging	0.88
R8759:Aqp4	UTSW	18	15,399,991 (GRCm38)	missense	probably benign
R9614:Aqp4	UTSW	18	15,393,630 (GRCm38)	missense	probably benign	0.01
T0970:Aqp4	UTSW	18	15,399,883 (GRCm38)	missense	probably damaging	1.00
Z1177:Aqp4	UTSW	18	15,399,881 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGCATCTTCAGACCAGCTTCAGGG -3'
(R):5'- GCTGGCTTTAAGCACTTGGCTTATG -3'

Sequencing Primer
(F):5'- CAGCTTCAGGGTGAGGATAAATG -3'
(R):5'- CTGTAATGGCCCAAAATTGGTG -3'

Posted On

2014-01-05