Mutagenetix > Incidental Mutation

Incidental Mutation 'R2274:Aqp4'

245006

Institutional Source

Beutler Lab

Gene Symbol

Aqp4

Ensembl Gene

ENSMUSG00000024411

Gene Name

aquaporin 4

Synonyms

aquaporin-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R2274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15522553-15544039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15526537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 315 (S315P)

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: S315P

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

SMART Domains

Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: S315P

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Abcb10	G	T	8: 124,709,491 (GRCm39)	A21E	probably benign	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Ank3	T	A	10: 69,786,772 (GRCm39)		probably null	Het
Atp7b	T	C	8: 22,510,848 (GRCm39)	I433V	probably benign	Het
Bco1	G	A	8: 117,835,522 (GRCm39)		probably null	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,145,986 (GRCm39)	Q73L	probably damaging	Het
Car5a	C	T	8: 122,671,408 (GRCm39)		probably null	Het
Cdk11b	T	A	4: 155,732,051 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
Egr4	A	T	6: 85,489,725 (GRCm39)	F112I	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Fat4	T	A	3: 39,050,048 (GRCm39)	V3970D	possibly damaging	Het
Fbxw5	C	A	2: 25,394,773 (GRCm39)	C222*	probably null	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Ghr	A	G	15: 3,349,507 (GRCm39)	V557A	probably benign	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr155	A	G	2: 73,178,479 (GRCm39)		probably null	Het
Gucy2f	A	T	X: 140,899,269 (GRCm39)	M697K	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Irf8	A	G	8: 121,480,266 (GRCm39)	E168G	probably damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
L3hypdh	T	C	12: 72,131,632 (GRCm39)	Y100C	possibly damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mier2	T	C	10: 79,380,368 (GRCm39)	I321V	probably damaging	Het
Mta1	C	T	12: 113,091,770 (GRCm39)	S291L	probably damaging	Het
Myh2	A	G	11: 67,081,184 (GRCm39)	K1267E	possibly damaging	Het
Nbea	A	T	3: 55,895,506 (GRCm39)		probably null	Het
Nexmif	T	G	X: 103,131,452 (GRCm39)	E155A	possibly damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nxph1	G	T	6: 9,247,746 (GRCm39)	C239F	probably damaging	Het
Odc1	A	G	12: 17,598,425 (GRCm39)	I189V	probably benign	Het
Or1n1	A	T	2: 36,750,113 (GRCm39)	N82K	probably damaging	Het
Or2t44	T	C	11: 58,677,492 (GRCm39)	V144A	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdhb15	T	C	18: 37,608,496 (GRCm39)	L576P	probably damaging	Het
Raph1	T	C	1: 60,537,659 (GRCm39)	D499G	probably damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rtl1	T	C	12: 109,561,101 (GRCm39)	E246G	unknown	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
St3gal6	T	A	16: 58,309,332 (GRCm39)	E34D	possibly damaging	Het
Tcstv3	C	T	13: 120,779,190 (GRCm39)	Q30*	probably null	Het
Tex16	T	A	X: 111,030,838 (GRCm39)	D1112E	probably damaging	Het
Tmcc3	G	A	10: 94,414,777 (GRCm39)	V160I	probably damaging	Het
Tmf1	T	A	6: 97,140,547 (GRCm39)	L776F	probably damaging	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn1r49	G	A	6: 90,049,126 (GRCm39)	T292I	probably benign	Het
Wdr19	T	A	5: 65,398,334 (GRCm39)	M853K	possibly damaging	Het
Zkscan8	C	T	13: 21,705,966 (GRCm39)	M265I	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
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
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'- GGGAAGCCAATACACTAGTTGC -3'
(R):5'- AAACGTCGCCTTAAGGAAGC -3'

Sequencing Primer
(F):5'- GCCAATACACTAGTTGCATAGTTG -3'
(R):5'- TCGCCTTAAGGAAGCCTTCAG -3'

Posted On

2014-10-30