Mutagenetix > Incidental Mutation

Incidental Mutation 'R6831:Aqp9'

537856

Institutional Source

Beutler Lab

Gene Symbol

Aqp9

Ensembl Gene

ENSMUSG00000032204

Gene Name

aquaporin 9

Synonyms

1700020I22Rik

MMRRC Submission

044941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R6831 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71017941-71075170 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 71069702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116785 (fasta)

Gene Model

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

AlphaFold

Q9JJJ3

Predicted Effect

unknown
Transcript: ENSMUST00000060917
AA Change: E29V

SMART Domains

Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: E29V

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

Predicted Effect

probably benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	G	10: 29,100,675 (GRCm39)	D349E	probably benign	Het
Adam28	C	T	14: 68,855,576 (GRCm39)	A630T	probably benign	Het
Akr1cl	C	T	1: 65,053,831 (GRCm39)		probably null	Het
Alcam	A	G	16: 52,130,264 (GRCm39)	Y29H	probably benign	Het
Alg3	A	T	16: 20,427,497 (GRCm39)	S25T	probably damaging	Het
Amdhd1	T	G	10: 93,363,118 (GRCm39)	L323F	probably damaging	Het
Apcdd1	C	A	18: 63,083,197 (GRCm39)	Y342*	probably null	Het
Arhgef5	A	G	6: 43,257,933 (GRCm39)	T1326A	probably damaging	Het
Cacna1a	T	C	8: 85,297,860 (GRCm39)	V1238A	probably damaging	Het
Cep128	T	C	12: 91,233,748 (GRCm39)	D440G	probably damaging	Het
Dnah5	G	C	15: 28,411,661 (GRCm39)	G3677R	possibly damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
E330034G19Rik	T	C	14: 24,346,163 (GRCm39)	S25P	probably benign	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fat3	C	A	9: 16,287,847 (GRCm39)	V559L	probably damaging	Het
Fra10ac1	A	T	19: 38,195,737 (GRCm39)	I162K	probably benign	Het
Glrx3	C	T	7: 137,060,951 (GRCm39)	T195M	possibly damaging	Het
Gm9949	T	A	18: 62,313,616 (GRCm39)		probably benign	Het
Hbs1l	T	C	10: 21,217,767 (GRCm39)	S228P	probably benign	Het
Hmcn1	G	A	1: 150,646,044 (GRCm39)	T718I	probably benign	Het
Igf1r	T	C	7: 67,857,067 (GRCm39)	S1010P	possibly damaging	Het
Inpp5d	T	A	1: 87,629,198 (GRCm39)	Y394*	probably null	Het
Itpr2	G	A	6: 146,013,927 (GRCm39)	T2623M	probably damaging	Het
Kif21b	T	A	1: 136,072,496 (GRCm39)	C67*	probably null	Het
Lama1	T	A	17: 68,063,749 (GRCm39)	C758S	possibly damaging	Het
Mdga1	T	A	17: 30,106,490 (GRCm39)	K274*	probably null	Het
Neu2	G	A	1: 87,524,455 (GRCm39)	G147R	probably damaging	Het
Nkx1-1	A	T	5: 33,591,147 (GRCm39)	S58R	unknown	Het
Or2ag16	A	T	7: 106,351,778 (GRCm39)	N272K	probably damaging	Het
Or52e4	A	G	7: 104,706,086 (GRCm39)	D211G	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	A	19: 5,210,823 (GRCm39)	I151F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pclo	C	T	5: 14,838,443 (GRCm39)	Q1417*	probably null	Het
Pkm	G	C	9: 59,582,398 (GRCm39)	M409I	probably benign	Het
Plbd2	T	A	5: 120,631,131 (GRCm39)	K215N	probably benign	Het
Polk	T	C	13: 96,631,999 (GRCm39)	K245E	possibly damaging	Het
Pramel17	T	A	4: 101,694,094 (GRCm39)	Q263L	probably benign	Het
Prl	T	G	13: 27,243,530 (GRCm39)	I65S	probably benign	Het
Proser3	T	C	7: 30,239,781 (GRCm39)	H441R	probably benign	Het
Psmb3	A	G	11: 97,597,728 (GRCm39)	K98R	probably benign	Het
Ptpn20	T	C	14: 33,354,882 (GRCm39)	V319A	probably damaging	Het
Ptprj	A	T	2: 90,290,991 (GRCm39)	Y397N	probably damaging	Het
Rp1	T	C	1: 4,420,087 (GRCm39)		probably null	Het
Sgsm1	T	A	5: 113,428,246 (GRCm39)	Y314F	probably damaging	Het
Sh3pxd2a	G	A	19: 47,271,532 (GRCm39)	R244C	probably damaging	Het
Sspo	G	A	6: 48,461,767 (GRCm39)	V3466M	possibly damaging	Het
Syne2	T	A	12: 76,013,568 (GRCm39)	F2921I	probably benign	Het
Trank1	T	A	9: 111,206,967 (GRCm39)	M1700K	probably benign	Het
Trmt112	T	A	19: 6,887,563 (GRCm39)	L4H	probably damaging	Het
Trmu	A	G	15: 85,779,207 (GRCm39)	T285A	probably benign	Het
Ttn	A	G	2: 76,601,846 (GRCm39)		probably null	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zc3hav1	A	T	6: 38,309,103 (GRCm39)	M573K	probably benign	Het
Zcchc8	T	C	5: 123,838,972 (GRCm39)	E522G	probably damaging	Het
Zfp354a	T	C	11: 50,961,381 (GRCm39)	S529P	probably damaging	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably damaging	Het

Other mutations in Aqp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Aqp9	APN	9	71,040,013 (GRCm39)	missense	probably damaging	1.00
IGL01012:Aqp9	APN	9	71,037,831 (GRCm39)	splice site	probably benign
IGL01667:Aqp9	APN	9	71,045,495 (GRCm39)	missense	probably benign	0.13
IGL02225:Aqp9	APN	9	71,037,829 (GRCm39)	splice site	probably benign
IGL02389:Aqp9	APN	9	71,030,188 (GRCm39)	missense	possibly damaging	0.80
IGL02551:Aqp9	APN	9	71,039,922 (GRCm39)	missense	probably damaging	0.98
IGL02904:Aqp9	APN	9	71,045,430 (GRCm39)	missense	probably damaging	0.98
R0411:Aqp9	UTSW	9	71,037,726 (GRCm39)	missense	probably benign	0.00
R0751:Aqp9	UTSW	9	71,045,487 (GRCm39)	missense	probably damaging	1.00
R1656:Aqp9	UTSW	9	71,045,385 (GRCm39)	missense	probably benign	0.01
R1731:Aqp9	UTSW	9	71,030,250 (GRCm39)	missense	possibly damaging	0.91
R1733:Aqp9	UTSW	9	71,019,624 (GRCm39)	missense	possibly damaging	0.67
R1865:Aqp9	UTSW	9	71,019,658 (GRCm39)	missense	probably benign	0.29
R4058:Aqp9	UTSW	9	71,037,726 (GRCm39)	missense	probably benign	0.00
R4756:Aqp9	UTSW	9	71,070,331 (GRCm39)	missense	probably damaging	1.00
R4771:Aqp9	UTSW	9	71,030,152 (GRCm39)	missense	probably damaging	1.00
R4904:Aqp9	UTSW	9	71,069,685 (GRCm39)	intron	probably benign
R5334:Aqp9	UTSW	9	71,030,292 (GRCm39)	critical splice acceptor site	probably null
R5511:Aqp9	UTSW	9	71,070,375 (GRCm39)	utr 5 prime	probably benign
R5771:Aqp9	UTSW	9	71,030,146 (GRCm39)	missense	probably damaging	1.00
R6329:Aqp9	UTSW	9	71,039,966 (GRCm39)	nonsense	probably null
R6838:Aqp9	UTSW	9	71,019,498 (GRCm39)	missense	probably benign	0.41
R7337:Aqp9	UTSW	9	71,069,764 (GRCm39)	missense	probably benign	0.23
R7466:Aqp9	UTSW	9	71,070,543 (GRCm39)	splice site	probably null
R7946:Aqp9	UTSW	9	71,030,290 (GRCm39)	missense	probably damaging	1.00
R8316:Aqp9	UTSW	9	71,045,495 (GRCm39)	missense	probably benign	0.13
R8885:Aqp9	UTSW	9	71,069,593 (GRCm39)	intron	probably benign
R8968:Aqp9	UTSW	9	71,045,485 (GRCm39)	nonsense	probably null
R9497:Aqp9	UTSW	9	71,069,651 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCTCAAGTCAAGTTCAATCAAAAGGG -3'
(R):5'- TGGTCAATAGATAGCGTGGAAC -3'

Sequencing Primer
(F):5'- TTATATGAAACCAACACAAGGCTAC -3'
(R):5'- TGCCAAGAGAGGTGCCTG -3'

Posted On

2018-10-18