Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03055:Aqp7'

453378

Institutional Source

Beutler Lab

Gene Symbol

Aqp7

Ensembl Gene

ENSMUSG00000028427

Gene Name

aquaporin 7

Synonyms

AQP7L, AQPap

Accession Numbers

Essential gene?

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

Stock #

IGL03055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41033074-41048139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41045326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 18 (M18T)

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: M18T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: M18T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000054945
AA Change: M18T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: M18T

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: ENSMUST00000157529

Meta Mutation Damage Score

0.1024

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (58/59)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900041M22Rik	T	A	11: 117,503,072 (GRCm39)		noncoding transcript	Het
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,092 (GRCm39)	S40R	probably benign	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Alkbh8	T	C	9: 3,345,882 (GRCm39)		probably benign	Het
Cchcr1	T	A	17: 35,837,516 (GRCm39)	M406K	probably benign	Het
Cdhr1	A	T	14: 36,817,054 (GRCm39)	D102E	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Clec16a	T	A	16: 10,559,645 (GRCm39)	S973T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,145,515 (GRCm39)	Y1471H	probably damaging	Het
Dnah12	A	G	14: 26,594,697 (GRCm39)	Y3489C	probably damaging	Het
Ect2	T	C	3: 27,191,211 (GRCm39)	E464G	probably damaging	Het
Enpp2	C	A	15: 54,729,481 (GRCm39)		probably null	Het
Erich2	G	T	2: 70,339,529 (GRCm39)	C28F	possibly damaging	Het
Fam135b	A	T	15: 71,493,883 (GRCm39)	H15Q	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Gfral	T	A	9: 76,115,831 (GRCm39)	T48S	probably benign	Het
Itga10	A	G	3: 96,557,836 (GRCm39)	E293G	probably damaging	Het
Lrp2	A	T	2: 69,288,792 (GRCm39)	N3691K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nefm	T	C	14: 68,360,358 (GRCm39)	T371A	probably damaging	Het
Nkain3	C	A	4: 20,778,308 (GRCm39)	C3F	probably benign	Het
Nol4l	G	C	2: 153,278,190 (GRCm39)		silent	Het
Nprl3	C	A	11: 32,198,230 (GRCm39)		probably benign	Het
Or52p1	A	T	7: 104,267,413 (GRCm39)	I176F	probably damaging	Het
Pate2	T	C	9: 35,523,069 (GRCm39)		probably benign	Het
Pde4d	A	G	13: 110,071,879 (GRCm39)	K128R	probably damaging	Het
Ptprt	A	G	2: 161,375,533 (GRCm39)	L1329P	probably damaging	Het
Rapgef3	T	C	15: 97,647,370 (GRCm39)		probably benign	Het
Rassf5	T	C	1: 131,172,732 (GRCm39)	I46V	probably benign	Het
Rin1	C	T	19: 5,103,187 (GRCm39)	T481I	probably benign	Het
Samd4b	A	G	7: 28,104,971 (GRCm39)	L524P	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,097,902 (GRCm39)		silent	Het
Ssh2	C	T	11: 77,299,021 (GRCm39)	Q123*	probably null	Het
St18	G	T	1: 6,872,959 (GRCm39)	L231F	probably damaging	Het
Stk11	A	C	10: 79,963,920 (GRCm39)	D96A	probably damaging	Het
Svil	A	G	18: 5,108,615 (GRCm39)	T1918A	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tlr1	C	A	5: 65,083,939 (GRCm39)	V213F	probably benign	Het
Trappc10	C	T	10: 78,050,520 (GRCm39)	R307Q	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Wnt6	G	A	1: 74,822,013 (GRCm39)	R198H	probably damaging	Het
Yipf2	A	T	9: 21,501,019 (GRCm39)	V98E	probably benign	Het
Zc3h15	A	G	2: 83,491,515 (GRCm39)	T248A	possibly damaging	Het
Zc3hav1	C	T	6: 38,293,251 (GRCm39)		probably null	Het
Zfp697	T	G	3: 98,332,810 (GRCm39)	C79G	possibly 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
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
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'- ACCAGCCTCTGACTCCACTC -3'
(R):5'- GAGGCACCTGGGTTACCC -3'

Sequencing Primer
(F):5'- CTCTATCCCAAAAAGACTTGATGAGG -3'
(R):5'- GGGTTACCCATTAACTCAGCCATG -3'

Posted On

2017-02-03