Mutagenetix > Incidental Mutation

Incidental Mutation 'R5817:Aqp7'

449082

Institutional Source

Beutler Lab

Gene Symbol

Aqp7

Ensembl Gene

ENSMUSG00000028427

Gene Name

aquaporin 7

Synonyms

AQP7L, AQPap

MMRRC Submission

043397-MU

Accession Numbers

Essential gene?

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

Stock #

R5817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41033074-41048139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41035510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 115 (T115I)

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: T115I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: T115I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000054945
AA Change: T115I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: T115I

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: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (71/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,497 (GRCm39)	I251M	probably benign	Het
Abcf3	T	C	16: 20,367,833 (GRCm39)	V63A	possibly damaging	Het
Agpat4	C	T	17: 12,434,097 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,890,720 (GRCm39)	V292M	probably damaging	Het
Ahnak2	A	T	12: 112,740,437 (GRCm39)	F406I	probably damaging	Het
Arhgef5	G	A	6: 43,252,038 (GRCm39)	D930N	probably benign	Het
Cc2d2a	G	A	5: 43,869,760 (GRCm39)	R887Q	probably damaging	Het
Ceacam18	A	G	7: 43,291,265 (GRCm39)	T236A	probably benign	Het
Chst15	A	T	7: 131,870,873 (GRCm39)	Y221N	probably damaging	Het
Chst15	G	A	7: 131,870,876 (GRCm39)	L220F	probably damaging	Het
Cntn2	G	A	1: 132,446,486 (GRCm39)	T784I	probably benign	Het
D630003M21Rik	A	G	2: 158,038,413 (GRCm39)	L1011P	probably damaging	Het
Dync2h1	T	A	9: 6,996,905 (GRCm39)	D3894V	probably damaging	Het
Eif1ad19	G	T	12: 87,740,201 (GRCm39)	D119E	probably benign	Het
Fam13b	T	C	18: 34,590,850 (GRCm39)	M443V	possibly damaging	Het
Fam20a	T	A	11: 109,564,244 (GRCm39)	Q503L	possibly damaging	Het
Ftdc2	T	C	16: 58,457,156 (GRCm39)	I89V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5454	T	A	13: 103,493,140 (GRCm39)		noncoding transcript	Het
Gm5581	A	G	6: 131,144,132 (GRCm39)		noncoding transcript	Het
Gm6619	A	G	6: 131,463,400 (GRCm39)	I6V	unknown	Het
Gmcl1	A	G	6: 86,691,230 (GRCm39)	M255T	probably damaging	Het
Golm2	T	A	2: 121,736,525 (GRCm39)	S231T	probably benign	Het
Gprc5c	T	A	11: 114,754,450 (GRCm39)	C42*	probably null	Het
Hmcn1	T	A	1: 150,613,275 (GRCm39)	E1384V	possibly damaging	Het
Il6	A	G	5: 30,223,006 (GRCm39)	I91V	probably benign	Het
Kmt2d	A	T	15: 98,760,244 (GRCm39)	S1005T	unknown	Het
Map1a	A	T	2: 121,129,391 (GRCm39)	H143L	possibly damaging	Het
Mical2	A	T	7: 111,922,866 (GRCm39)	T624S	probably benign	Het
Msh3	A	T	13: 92,422,508 (GRCm39)	N549K	possibly damaging	Het
Ncr1	T	A	7: 4,343,894 (GRCm39)	I164N	possibly damaging	Het
Or10ak11	T	G	4: 118,687,296 (GRCm39)	T115P	probably damaging	Het
Or51a5	A	T	7: 102,771,115 (GRCm39)	M292K	possibly damaging	Het
Or52m1	A	G	7: 102,289,585 (GRCm39)	N44S	probably damaging	Het
Or8d2b	A	G	9: 38,788,673 (GRCm39)	D67G	probably damaging	Het
Palmd	T	C	3: 116,712,272 (GRCm39)	I541M	probably benign	Het
Pcsk7	A	T	9: 45,837,331 (GRCm39)	M552L	probably benign	Het
Plekhh2	A	G	17: 84,879,154 (GRCm39)	E626G	possibly damaging	Het
Pole	G	A	5: 110,460,838 (GRCm39)	D1176N	probably damaging	Het
Polr2f	T	C	15: 79,035,869 (GRCm39)	I110T	probably damaging	Het
Pomt1	A	T	2: 32,138,691 (GRCm39)	I436F	probably damaging	Het
Prag1	A	C	8: 36,570,857 (GRCm39)	Q480P	probably damaging	Het
Qars1	C	T	9: 108,387,441 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,175,406 (GRCm39)	S1797L	probably damaging	Het
Rbm26	T	C	14: 105,366,039 (GRCm39)	T832A	probably damaging	Het
Rnf169	A	G	7: 99,574,976 (GRCm39)	S540P	probably benign	Het
Serpini1	T	A	3: 75,520,631 (GRCm39)	M76K	probably benign	Het
Shq1	A	G	6: 100,550,681 (GRCm39)	L419S	probably damaging	Het
Slc25a17	G	A	15: 81,211,261 (GRCm39)	T225M	probably damaging	Het
Slc6a5	C	A	7: 49,606,239 (GRCm39)	L716I	probably benign	Het
Smc1b	A	G	15: 84,951,984 (GRCm39)	V1149A	probably damaging	Het
Trappc1	A	T	11: 69,215,060 (GRCm39)	Q26L	possibly damaging	Het
Trpm2	C	A	10: 77,801,814 (GRCm39)	G84W	probably damaging	Het
Ttn	G	A	2: 76,573,010 (GRCm39)	T24215M	probably damaging	Het
Ubn2	C	A	6: 38,456,088 (GRCm39)	T337K	probably damaging	Het
Ubr4	A	G	4: 139,196,158 (GRCm39)	K1265E	probably damaging	Het
Vmn1r214	T	G	13: 23,219,491 (GRCm39)	I328M	probably damaging	Het
Xcr1	C	T	9: 123,684,922 (GRCm39)	C280Y	possibly damaging	Het
Zc3h13	A	G	14: 75,565,572 (GRCm39)	E895G	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
R5820:Aqp7	UTSW	4	41,035,510 (GRCm39)	missense	probably benign	0.00
R5921:Aqp7	UTSW	4	41,036,093 (GRCm39)	missense	probably benign
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'- AAGGGCTTTACTCTACTAGGGTTG -3'
(R):5'- GTGCGGTCTTTTCACAGAGAAC -3'

Sequencing Primer
(F):5'- ACTCTACTAGGGTTGGGGATTTG -3'
(R):5'- GGTCTTTTCACAGAGAACATCCC -3'

Posted On

2016-12-20