Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Aqp9'

578782

Institutional Source

Beutler Lab

Gene Symbol

Aqp9

Ensembl Gene

ENSMUSG00000032204

Gene Name

aquaporin 9

Synonyms

1700020I22Rik

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7466 (G1)

Quality Score

90.0077

Status

Validated

Chromosome

Chromosomal Location

71110659-71168682 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 71163261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060917] [ENSMUST00000074465] [ENSMUST00000113570] [ENSMUST00000144618]

AlphaFold

Q9JJJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000060917

SMART Domains

Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:MIP	58	288	1.1e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000074465

SMART Domains

Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204

Domain	Start	End	E-Value	Type
Pfam:MIP	17	262	4.5e-54	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113570

SMART Domains

Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204

Domain	Start	End	E-Value	Type
Pfam:MIP	17	262	4.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144618

SMART Domains

Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204

Domain	Start	End	E-Value	Type
Pfam:MIP	17	164	9.4e-31	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: This gene encodes a member of the aquaglyceroporin subfamily of aquaporins. This protein transports water, glycerol, urea, purines and pyrimidines and plays a role in glycerol metabolism and osteoclast differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 35,088,741 (GRCm38)	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437 (GRCm38)		probably benign	Het
Amer3	A	G	1: 34,587,993 (GRCm38)	S438G	probably damaging	Het
Art4	G	T	6: 136,854,850 (GRCm38)	H98N	probably damaging	Het
Bdh1	T	C	16: 31,447,604 (GRCm38)	S70P	probably benign	Het
Ccdc61	A	C	7: 18,891,105 (GRCm38)	Y503D	probably damaging	Het
Cd163l1	T	C	7: 140,220,706 (GRCm38)		probably null	Het
Cd180	A	T	13: 102,704,995 (GRCm38)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174 (GRCm38)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855 (GRCm38)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983 (GRCm38)		probably null	Het
Cfap77	G	T	2: 28,955,613 (GRCm38)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973 (GRCm38)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650 (GRCm38)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386 (GRCm38)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128 (GRCm38)	V77A	probably benign	Het
Col12a1	C	T	9: 79,655,407 (GRCm38)	E1798K	possibly damaging	Het
Cth	T	A	3: 157,924,885 (GRCm38)	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,955,416 (GRCm38)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785 (GRCm38)	N690S	probably benign	Het
Cyhr1	C	T	15: 76,648,186 (GRCm38)	D241N	probably benign	Het
Dennd4c	A	G	4: 86,774,331 (GRCm38)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212 (GRCm38)	P80L	probably damaging	Het
Eef2k	A	G	7: 120,903,484 (GRCm38)		probably null	Het
Ephb2	C	T	4: 136,659,065 (GRCm38)	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983 (GRCm38)	Y22C	probably benign	Het
F5	C	T	1: 164,193,328 (GRCm38)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471 (GRCm38)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432 (GRCm38)	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569 (GRCm38)	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207 (GRCm38)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779 (GRCm38)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,616 (GRCm38)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,120,849 (GRCm38)	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420 (GRCm38)		probably benign	Het
Ippk	T	C	13: 49,432,467 (GRCm38)		probably null	Het
Klc4	T	A	17: 46,639,910 (GRCm38)	I258F	probably benign	Het
Manba	C	A	3: 135,542,393 (GRCm38)	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789 (GRCm38)	N347S	probably benign	Het
Myo18b	T	C	5: 112,723,892 (GRCm38)	T2108A	probably benign	Het
Naip5	A	T	13: 100,221,986 (GRCm38)	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220 (GRCm38)	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147 (GRCm38)	W834*	probably null	Het
Olfr1134	T	C	2: 87,656,396 (GRCm38)	N175S	possibly damaging	Het
Olfr1419	T	A	19: 11,870,316 (GRCm38)	D300V	possibly damaging	Het
Olfr285	T	C	15: 98,313,380 (GRCm38)	M57V	probably damaging	Het
Olfr469	A	T	7: 107,822,922 (GRCm38)	C182*	probably null	Het
Pam	A	T	1: 97,842,247 (GRCm38)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884 (GRCm38)	K864R	probably damaging	Het
Plcl2	A	G	17: 50,608,468 (GRCm38)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157 (GRCm38)	A329S	probably damaging	Het
Prep	T	C	10: 45,150,438 (GRCm38)	V486A	probably benign	Het
Prkcb	A	T	7: 122,516,844 (GRCm38)	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602 (GRCm38)	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467 (GRCm38)	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057 (GRCm38)	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008 (GRCm38)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484 (GRCm38)		probably null	Het
Rfc1	A	T	5: 65,275,426 (GRCm38)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957 (GRCm38)	D351G	probably benign	Het
Serpinb9g	T	C	13: 33,495,167 (GRCm38)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266 (GRCm38)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,928,404 (GRCm38)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,374,502 (GRCm38)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239 (GRCm38)	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346 (GRCm38)	L1096P	probably damaging	Het
Ston1	T	A	17: 88,635,901 (GRCm38)	M245K	probably benign	Het
Swap70	T	A	7: 110,274,772 (GRCm38)	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186 (GRCm38)	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563 (GRCm38)	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758 (GRCm38)	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885 (GRCm38)	L87P	probably damaging	Het
Tmem55a	T	A	4: 14,912,477 (GRCm38)	Y195*	probably null	Het
Tmprss11e	T	A	5: 86,709,480 (GRCm38)	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582 (GRCm38)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511 (GRCm38)	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773 (GRCm38)	V482I	probably benign	Het
Wdr63	T	C	3: 146,055,618 (GRCm38)	D661G	probably benign	Het
Zer1	T	C	2: 30,101,484 (GRCm38)		probably null	Het
Zfp503	T	C	14: 21,986,011 (GRCm38)	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762 (GRCm38)	C198S	possibly damaging	Het
Zfyve26	C	T	12: 79,287,807 (GRCm38)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531 (GRCm38)	V459A	probably damaging	Het

Other mutations in Aqp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Aqp9	APN	9	71,132,731 (GRCm38)	missense	probably damaging	1.00
IGL01012:Aqp9	APN	9	71,130,549 (GRCm38)	splice site	probably benign
IGL01667:Aqp9	APN	9	71,138,213 (GRCm38)	missense	probably benign	0.13
IGL02225:Aqp9	APN	9	71,130,547 (GRCm38)	splice site	probably benign
IGL02389:Aqp9	APN	9	71,122,906 (GRCm38)	missense	possibly damaging	0.80
IGL02551:Aqp9	APN	9	71,132,640 (GRCm38)	missense	probably damaging	0.98
IGL02904:Aqp9	APN	9	71,138,148 (GRCm38)	missense	probably damaging	0.98
R0411:Aqp9	UTSW	9	71,130,444 (GRCm38)	missense	probably benign	0.00
R0751:Aqp9	UTSW	9	71,138,205 (GRCm38)	missense	probably damaging	1.00
R1656:Aqp9	UTSW	9	71,138,103 (GRCm38)	missense	probably benign	0.01
R1731:Aqp9	UTSW	9	71,122,968 (GRCm38)	missense	possibly damaging	0.91
R1733:Aqp9	UTSW	9	71,112,342 (GRCm38)	missense	possibly damaging	0.67
R1865:Aqp9	UTSW	9	71,112,376 (GRCm38)	missense	probably benign	0.29
R4058:Aqp9	UTSW	9	71,130,444 (GRCm38)	missense	probably benign	0.00
R4756:Aqp9	UTSW	9	71,163,049 (GRCm38)	missense	probably damaging	1.00
R4771:Aqp9	UTSW	9	71,122,870 (GRCm38)	missense	probably damaging	1.00
R4904:Aqp9	UTSW	9	71,162,403 (GRCm38)	intron	probably benign
R5334:Aqp9	UTSW	9	71,123,010 (GRCm38)	critical splice acceptor site	probably null
R5511:Aqp9	UTSW	9	71,163,093 (GRCm38)	utr 5 prime	probably benign
R5771:Aqp9	UTSW	9	71,122,864 (GRCm38)	missense	probably damaging	1.00
R6329:Aqp9	UTSW	9	71,132,684 (GRCm38)	nonsense	probably null
R6831:Aqp9	UTSW	9	71,162,420 (GRCm38)	intron	probably benign
R6838:Aqp9	UTSW	9	71,112,216 (GRCm38)	missense	probably benign	0.41
R7337:Aqp9	UTSW	9	71,162,482 (GRCm38)	missense	probably benign	0.23
R7946:Aqp9	UTSW	9	71,123,008 (GRCm38)	missense	probably damaging	1.00
R8316:Aqp9	UTSW	9	71,138,213 (GRCm38)	missense	probably benign	0.13
R8885:Aqp9	UTSW	9	71,162,311 (GRCm38)	intron	probably benign
R8968:Aqp9	UTSW	9	71,138,203 (GRCm38)	nonsense	probably null
R9497:Aqp9	UTSW	9	71,162,369 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTTCTGCCAGAGGTAAGCTTTC -3'
(R):5'- CCCATCTCTGGTTTGGCAAC -3'

Sequencing Primer
(F):5'- AGGTAAGCTTTCCACCAAGGTCTG -3'
(R):5'- CAAATAGCAATGAGCTGGG -3'

Posted On

2019-10-07