Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Aqp4'

350919

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

MMRRC Submission

041819-MU

Accession Numbers

Essential gene?

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

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15522553-15544039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15531183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 193 (I193V)

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: I193V

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: I193V

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

Meta Mutation Damage Score

0.3520

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	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
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
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'- CCAAATGTAGTAGTTGGCACTGG -3'
(R):5'- TAGAAGACTCAAGTTAACCATGGC -3'

Sequencing Primer
(F):5'- GCACTGGCCAGGCTACTG -3'
(R):5'- CAAGTTAACCATGGCTTTTTCTGCAG -3'

Posted On

2015-10-08