Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:Aqp4'

597404

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

MMRRC Submission

045809-MU

Accession Numbers

Essential gene?

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

Stock #

R7753 (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 15533033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 20 (E20G)

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: E20G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: E20G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,074,933 (GRCm39)	T1377A	probably damaging	Het
AI661453	G	T	17: 47,778,439 (GRCm39)	E722*	probably null	Het
Ap2b1	A	T	11: 83,258,733 (GRCm39)	K735*	probably null	Het
Atp6v1b1	G	T	6: 83,729,440 (GRCm39)	V117L	probably benign	Het
C1rb	A	G	6: 124,557,390 (GRCm39)	N509S	probably benign	Het
Cep44	A	G	8: 56,985,842 (GRCm39)	V350A	probably benign	Het
Cmya5	T	C	13: 93,234,680 (GRCm39)	Q136R	probably benign	Het
Cntrl	T	C	2: 35,001,691 (GRCm39)	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,441,164 (GRCm39)	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,350,861 (GRCm39)	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,899,007 (GRCm39)	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,061,448 (GRCm39)	D294G	probably benign	Het
Ddx10	A	T	9: 53,136,904 (GRCm39)	L336Q	probably damaging	Het
Dop1a	A	G	9: 86,371,755 (GRCm39)	T149A	possibly damaging	Het
Epg5	A	G	18: 77,991,560 (GRCm39)	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,179,354 (GRCm39)	Q60L	probably damaging	Het
Farsb	T	A	1: 78,456,740 (GRCm39)	E41D	probably benign	Het
Frem1	T	C	4: 82,832,217 (GRCm39)	D1956G	probably benign	Het
Fzd4	T	A	7: 89,056,992 (GRCm39)	Y346*	probably null	Het
Fzd7	A	T	1: 59,522,641 (GRCm39)	S175C	probably benign	Het
Gdi2	A	G	13: 3,598,956 (GRCm39)	T47A	probably benign	Het
Gpr155	A	T	2: 73,212,550 (GRCm39)	H24Q	probably benign	Het
Hdac7	A	T	15: 97,698,642 (GRCm39)	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,704,369 (GRCm39)	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,802,336 (GRCm39)	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,417,519 (GRCm39)	R223*	probably null	Het
Igkv4-91	T	G	6: 68,745,761 (GRCm39)	S46R	probably benign	Het
Itk	T	A	11: 46,222,722 (GRCm39)	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,481,218 (GRCm39)	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 141,729,136 (GRCm39)		probably benign	Het
Lce1m	C	A	3: 92,925,815 (GRCm39)	G41W	unknown	Het
Mapk10	T	A	5: 103,186,419 (GRCm39)	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,345,856 (GRCm39)	E812G	probably damaging	Het
Mlh1	C	A	9: 111,081,931 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,317,475 (GRCm39)	D784G	possibly damaging	Het
Neo1	A	T	9: 58,863,288 (GRCm39)	D426E	probably benign	Het
Nol4	T	A	18: 23,171,659 (GRCm39)	M1L	probably benign	Het
Nr1h3	A	G	2: 91,015,370 (GRCm39)	F338S	probably damaging	Het
Oasl2	A	G	5: 115,043,118 (GRCm39)	K297E	probably benign	Het
Or10ag59	A	G	2: 87,406,141 (GRCm39)	T238A	probably benign	Het
Or10z1	C	T	1: 174,078,236 (GRCm39)	V86I	probably benign	Het
Or4f14	A	G	2: 111,742,927 (GRCm39)	I116T	probably benign	Het
Or56a5	T	C	7: 104,793,007 (GRCm39)	I164M	probably benign	Het
Or5m5	A	G	2: 85,815,060 (GRCm39)	N292S	possibly damaging	Het
Osbpl9	T	C	4: 108,990,970 (GRCm39)	T97A	possibly damaging	Het
P3h2	A	T	16: 25,789,687 (GRCm39)	Y527N	probably damaging	Het
Papss2	A	T	19: 32,597,579 (GRCm39)	H9L	probably benign	Het
Pcdha4	C	A	18: 37,086,354 (GRCm39)	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,730,131 (GRCm39)	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,357,425 (GRCm39)	Q345L	possibly damaging	Het
Prr14l	G	T	5: 32,984,597 (GRCm39)	L1633I	probably damaging	Het
Prss51	T	A	14: 64,333,376 (GRCm39)	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,347,868 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Slc2a7	T	C	4: 150,239,141 (GRCm39)	I122T	possibly damaging	Het
Spata31e4	A	T	13: 50,855,817 (GRCm39)	D485V	probably damaging	Het
Sprr3	G	A	3: 92,364,415 (GRCm39)	P143L	probably benign	Het
Sugct	A	T	13: 17,752,104 (GRCm39)	S181T	possibly damaging	Het
Syne2	G	A	12: 76,085,697 (GRCm39)	R141Q	probably benign	Het
Taok1	T	C	11: 77,428,725 (GRCm39)	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,269,306 (GRCm39)		probably null	Het
Thada	T	C	17: 84,559,818 (GRCm39)	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,852,156 (GRCm39)	L104S	probably damaging	Het
Tln2	T	G	9: 67,302,755 (GRCm39)	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,705,137 (GRCm39)	E75G	probably damaging	Het
Tox3	A	G	8: 90,975,560 (GRCm39)	L357P	probably damaging	Het
Ubr4	T	C	4: 139,197,603 (GRCm39)	V4492A	unknown	Het
Ulk4	A	G	9: 121,095,578 (GRCm39)		probably null	Het
Ush2a	A	G	1: 188,175,603 (GRCm39)	T1234A	probably benign	Het
Usp53	G	A	3: 122,742,887 (GRCm39)	T683I	probably damaging	Het
Vcan	T	A	13: 89,837,442 (GRCm39)	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,399,834 (GRCm39)	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,806,663 (GRCm39)	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,213,040 (GRCm39)	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,374,895 (GRCm39)	D785G	probably benign	Het
Zfp397	A	T	18: 24,090,129 (GRCm39)	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,904,249 (GRCm39)	T1393S	possibly damaging	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
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'- TGCTGAGTCCAAAGCAAAGG -3'
(R):5'- GAAATCACAGGCCTCTCGTCTAC -3'

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

Posted On

2019-11-26