Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:Aqp7'

461561

Institutional Source

Beutler Lab

Gene Symbol

Aqp7

Ensembl Gene

ENSMUSG00000028427

Gene Name

aquaporin 7

Synonyms

AQP7L, AQPap

MMRRC Submission

044118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5921 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41033074-41048139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41036093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 48 (N48K)

Ref Sequence

ENSEMBL: ENSMUSP00000093007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030136] [ENSMUST00000054945]

AlphaFold

O54794

Predicted Effect

probably benign
Transcript: ENSMUST00000030136
AA Change: N48K

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

SMART Domains

Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: N48K

Domain	Start	End	E-Value	Type
Pfam:MIP	12	257	7e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054945
AA Change: N48K

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

SMART Domains

Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: N48K

Domain	Start	End	E-Value	Type
Pfam:MIP	12	257	1.6e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149517

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice for one allele show decreased circulating glycerol levels and fasting hypoglycemia. Other mutant alleles show increased gonadal fat pad mass and adipocyte hypertrophy or increased urine glucose and impaired water permeability in the kidney, but have normal serum glycerol. [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
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Asic4	A	G	1: 75,428,017 (GRCm39)	N181S	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Fxyd4	G	A	6: 117,913,099 (GRCm39)		probably benign	Het
Gal	A	G	19: 3,460,100 (GRCm39)	S124P	probably damaging	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Man1a	A	G	10: 53,783,606 (GRCm39)	I632T	probably damaging	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Nek8	A	G	11: 78,063,885 (GRCm39)	M40T	probably damaging	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
R3hdm4	A	T	10: 79,749,453 (GRCm39)	V52E	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sema4g	G	T	19: 44,987,143 (GRCm39)	G460V	probably benign	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	probably damaging	Het

Other mutations in Aqp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Aqp7	APN	4	41,045,321 (GRCm39)	nonsense	probably null
IGL01871:Aqp7	APN	4	41,045,321 (GRCm39)	nonsense	probably null
IGL02173:Aqp7	APN	4	41,034,379 (GRCm39)	nonsense	probably null
IGL03139:Aqp7	APN	4	41,045,326 (GRCm39)	missense	probably benign	0.00
IGL03237:Aqp7	APN	4	41,034,884 (GRCm39)	missense	possibly damaging	0.68
IGL03241:Aqp7	APN	4	41,045,270 (GRCm39)	splice site	probably benign
IGL03055:Aqp7	UTSW	4	41,045,326 (GRCm39)	missense	probably benign	0.00
R0884:Aqp7	UTSW	4	41,034,929 (GRCm39)	missense	possibly damaging	0.86
R1617:Aqp7	UTSW	4	41,036,109 (GRCm39)	missense	probably null	0.74
R3551:Aqp7	UTSW	4	41,045,329 (GRCm39)	missense	probably benign	0.04
R5340:Aqp7	UTSW	4	41,034,347 (GRCm39)	missense	probably benign
R5689:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5690:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5691:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5692:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5710:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5711:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5713:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5751:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5817:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5820:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R8422:Aqp7	UTSW	4	41,035,622 (GRCm39)	missense	probably benign	0.02
R8697:Aqp7	UTSW	4	41,045,305 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTCTCTTAGCTGTGCCAGG -3'
(R):5'- TCCCTGACTCTGATCTGAGAG -3'

Sequencing Primer
(F):5'- CTCTTAGCTGTGCCAGGGAAGG -3'
(R):5'- ACTCTGATCTGAGAGGCGTC -3'

Posted On

2017-02-28