Mutagenetix > Incidental Mutation

Incidental Mutation 'R1482:Aqp6'

164479

Institutional Source

Beutler Lab

Gene Symbol

Aqp6

Ensembl Gene

ENSMUSG00000043144

Gene Name

aquaporin 6

Synonyms

MMRRC Submission

039535-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1482 (G1)

Quality Score

142

Status

Not validated

Chromosome

Chromosomal Location

99601400-99605477 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 99604307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 294 (*294C)

Ref Sequence

ENSEMBL: ENSMUSP00000023754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023754] [ENSMUST00000230075]

AlphaFold

Q8C4A0

Predicted Effect

probably null
Transcript: ENSMUST00000023754
AA Change: *294C

SMART Domains

Protein: ENSMUSP00000023754
Gene: ENSMUSG00000043144
AA Change: *294C

Domain	Start	End	E-Value	Type
Pfam:MIP	17	228	2.2e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000230075

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 83.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	G	A	19: 3,717,192 (GRCm38)	D260N	probably benign	Het
Ankef1	A	T	2: 136,550,158 (GRCm38)	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754 (GRCm38)		probably null	Het
Baz2a	T	A	10: 128,109,008 (GRCm38)	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,427,302 (GRCm38)	D151G	probably damaging	Het
Cabp5	T	A	7: 13,398,342 (GRCm38)	L12*	probably null	Het
Cachd1	T	C	4: 100,988,598 (GRCm38)	V993A	possibly damaging	Het
Cd44	G	A	2: 102,831,383 (GRCm38)	T306I	probably damaging	Het
Cdc20	A	T	4: 118,437,056 (GRCm38)	N22K	probably benign	Het
Cdc6	T	A	11: 98,916,981 (GRCm38)	D433E	possibly damaging	Het
Clhc1	A	G	11: 29,553,725 (GRCm38)	D47G	probably damaging	Het
Csf2	T	C	11: 54,248,563 (GRCm38)	K65E	probably benign	Het
Cul9	T	C	17: 46,508,547 (GRCm38)	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,467,820 (GRCm38)	R144L	possibly damaging	Het
Dcpp2	C	T	17: 23,900,542 (GRCm38)	T110I	probably damaging	Het
Disp1	A	T	1: 183,086,474 (GRCm38)	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,294,874 (GRCm38)	G1562D	probably damaging	Het
Ecpas	T	C	4: 58,820,163 (GRCm38)	K1217E	possibly damaging	Het
Exoc3l2	C	A	7: 19,495,359 (GRCm38)	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,701,539 (GRCm38)	V364A	probably benign	Het
Fam151a	T	C	4: 106,745,679 (GRCm38)	L265P	probably damaging	Het
Fam151b	T	A	13: 92,450,166 (GRCm38)	Q253L	probably benign	Het
Fat1	G	A	8: 44,953,244 (GRCm38)	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,145,984 (GRCm38)	R274*	probably null	Het
Fgd4	G	T	16: 16,484,473 (GRCm38)	Q73K	probably benign	Het
Fth1	A	G	19: 9,984,853 (GRCm38)	T154A	probably benign	Het
Hgs	C	A	11: 120,480,040 (GRCm38)	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,489,948 (GRCm38)	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,624,897 (GRCm38)	V1204M	probably damaging	Het
Keg1	A	C	19: 12,718,821 (GRCm38)	H166P	probably damaging	Het
Kifap3	A	T	1: 163,825,859 (GRCm38)	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,685,284 (GRCm38)	D74V	probably damaging	Het
Lman2	A	G	13: 55,351,405 (GRCm38)	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,826,590 (GRCm38)	I173T	possibly damaging	Het
Mov10	G	T	3: 104,804,546 (GRCm38)	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,536,847 (GRCm38)	A286S	probably damaging	Het
Mtmr10	A	G	7: 64,314,249 (GRCm38)	Y244C	probably damaging	Het
Nbea	A	T	3: 56,079,993 (GRCm38)	C359S	probably damaging	Het
Nbr1	C	T	11: 101,572,841 (GRCm38)	T633I	probably benign	Het
Nepn	A	T	10: 52,400,416 (GRCm38)	T22S	probably damaging	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,737,972 (GRCm38)	L342M	probably damaging	Het
Or2ag17	A	G	7: 106,790,333 (GRCm38)	F223L	probably benign	Het
Or52b2	T	A	7: 105,337,256 (GRCm38)	R153S	probably damaging	Het
Or6c205	T	A	10: 129,251,143 (GRCm38)	I203N	possibly damaging	Het
Or7e176	G	A	9: 20,260,724 (GRCm38)	V295I	possibly damaging	Het
Oxnad1	T	C	14: 32,099,633 (GRCm38)		probably null	Het
Pard3b	A	T	1: 62,166,367 (GRCm38)	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960 (GRCm38)	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,263,516 (GRCm38)	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,574,278 (GRCm38)	D169G	probably damaging	Het
Scn3b	A	C	9: 40,279,496 (GRCm38)	D74A	probably damaging	Het
Setbp1	C	T	18: 79,086,835 (GRCm38)	D61N	probably damaging	Het
Setx	T	A	2: 29,162,992 (GRCm38)	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,406,874 (GRCm38)	W685C	probably damaging	Het
Vps8	A	G	16: 21,581,598 (GRCm38)	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,269,636 (GRCm38)	F699L	probably damaging	Het
Zfp616	T	A	11: 74,083,977 (GRCm38)	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,115,448 (GRCm38)	D307E	possibly damaging	Het
Zfp687	A	G	3: 95,007,533 (GRCm38)	F1219S	probably damaging	Het
Zfpm2	T	A	15: 41,099,291 (GRCm38)	D248E	probably damaging	Het

Other mutations in Aqp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Aqp6	APN	15	99,604,278 (GRCm38)	missense	probably benign	0.01
IGL02827:Aqp6	APN	15	99,603,011 (GRCm38)	missense	probably damaging	1.00
R1708:Aqp6	UTSW	15	99,602,662 (GRCm38)	missense	possibly damaging	0.92
R4324:Aqp6	UTSW	15	99,601,410 (GRCm38)	start codon destroyed	probably null	0.08
R5756:Aqp6	UTSW	15	99,602,742 (GRCm38)	missense	probably damaging	0.98
R5974:Aqp6	UTSW	15	99,601,436 (GRCm38)	missense	probably benign	0.12
R6773:Aqp6	UTSW	15	99,602,677 (GRCm38)	missense	probably damaging	0.98
R7599:Aqp6	UTSW	15	99,603,771 (GRCm38)	missense	possibly damaging	0.59
R9151:Aqp6	UTSW	15	99,603,774 (GRCm38)	missense	possibly damaging	0.92
R9443:Aqp6	UTSW	15	99,601,528 (GRCm38)	missense
X0025:Aqp6	UTSW	15	99,601,505 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGACCAGCTTCTGCATTCATAGAC -3'
(R):5'- CCCTGTGCTCTTGCCGTTAAGAAAC -3'

Sequencing Primer
(F):5'- CAGCTTCTGCATTCATAGACAGAAAG -3'
(R):5'- ggggggatgagggagag -3'

Posted On

2014-03-28