Mutagenetix > Incidental Mutation

Incidental Mutation 'R8316:Aqp9'

641696

Institutional Source

Beutler Lab

Gene Symbol

Aqp9

Ensembl Gene

ENSMUSG00000032204

Gene Name

aquaporin 9

Synonyms

1700020I22Rik

MMRRC Submission

067854-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R8316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71017941-71075170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71045495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 38 (V38A)

Ref Sequence

ENSEMBL: ENSMUSP00000116785 (fasta)

Gene Model

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

AlphaFold

Q9JJJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000060917
AA Change: V64A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: V64A

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
AA Change: V38A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
AA Change: V38A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113570
AA Change: V38A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
AA Change: V38A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144618
AA Change: V38A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
AA Change: V38A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	C	10: 78,903,573 (GRCm39)	C248G	probably damaging	Het
4933427D14Rik	A	T	11: 72,059,612 (GRCm39)	V693E	possibly damaging	Het
Abcc10	G	T	17: 46,638,735 (GRCm39)	L42I	probably damaging	Het
Alb	A	G	5: 90,616,449 (GRCm39)	E318G	probably benign	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Aox4	T	A	1: 58,293,470 (GRCm39)	C941S	possibly damaging	Het
AW209491	A	G	13: 14,812,349 (GRCm39)	T401A	probably damaging	Het
Ccdc57	C	T	11: 120,776,742 (GRCm39)	A553T	probably damaging	Het
Celf2	C	T	2: 6,551,914 (GRCm39)	D522N	probably benign	Het
Cfap210	A	G	2: 69,612,287 (GRCm39)		probably null	Het
Cmpk2	A	G	12: 26,524,136 (GRCm39)	N311S	probably damaging	Het
Dcn	T	C	10: 97,330,939 (GRCm39)	I91T	probably damaging	Het
Defa30	G	A	8: 21,624,709 (GRCm39)	V11I	probably benign	Het
Dnmt3a	T	A	12: 3,946,965 (GRCm39)	V397E	probably benign	Het
Ehhadh	G	A	16: 21,585,053 (GRCm39)	A276V	probably benign	Het
Fibcd1	T	C	2: 31,723,791 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,818,336 (GRCm39)	D344G	probably null	Het
H2-T5	A	G	17: 36,479,154 (GRCm39)	S32P	unknown	Het
Invs	G	T	4: 48,426,199 (GRCm39)	R995S	possibly damaging	Het
Itpr3	T	C	17: 27,325,199 (GRCm39)	M1264T	possibly damaging	Het
Lzic	C	T	4: 149,572,527 (GRCm39)	A39V	probably benign	Het
Marchf6	A	G	15: 31,482,650 (GRCm39)	L516P	possibly damaging	Het
Mecom	C	T	3: 30,011,529 (GRCm39)	E591K	probably benign	Het
Mical3	T	C	6: 120,911,944 (GRCm39)	D1916G	probably damaging	Het
Mms22l	T	C	4: 24,578,855 (GRCm39)	I738T	probably damaging	Het
Mroh2b	G	A	15: 4,980,746 (GRCm39)	W1438*	probably null	Het
Mroh8	G	T	2: 157,071,879 (GRCm39)	T542K	possibly damaging	Het
Msl1	A	T	11: 98,691,074 (GRCm39)	K416I	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or51a10	A	T	7: 103,698,829 (GRCm39)	V244E	probably damaging	Het
Or5p5	G	T	7: 107,414,030 (GRCm39)	V82F	possibly damaging	Het
Or5p58	A	G	7: 107,694,450 (GRCm39)	F109S	probably benign	Het
Or6c70	A	G	10: 129,709,891 (GRCm39)	V245A	probably damaging	Het
Pdzk1ip1	T	A	4: 114,946,323 (GRCm39)	V61D	probably benign	Het
Plcxd1	A	T	5: 110,250,180 (GRCm39)	M212L	probably benign	Het
Pld1	A	G	3: 28,078,361 (GRCm39)	T7A	probably benign	Het
Ppm1n	T	C	7: 19,012,302 (GRCm39)	D310G	probably damaging	Het
Prpf8	A	G	11: 75,390,641 (GRCm39)	N1264S	possibly damaging	Het
Pum2	T	A	12: 8,763,456 (GRCm39)	N204K	possibly damaging	Het
Recql5	G	A	11: 115,784,861 (GRCm39)	T822I	possibly damaging	Het
Rfc1	T	C	5: 65,436,077 (GRCm39)	T656A	probably benign	Het
Sacs	T	C	14: 61,427,068 (GRCm39)	Y159H	possibly damaging	Het
Septin14	A	G	5: 129,773,194 (GRCm39)	S148P	probably damaging	Het
Slco1c1	T	A	6: 141,492,640 (GRCm39)	M341K	probably benign	Het
Smok2a	T	C	17: 13,445,160 (GRCm39)	S246P	probably damaging	Het
Spata9	C	A	13: 76,125,890 (GRCm39)	S124R	possibly damaging	Het
Sri	A	G	5: 8,113,317 (GRCm39)	N103D	probably damaging	Het
Sspo	G	A	6: 48,459,622 (GRCm39)	C3327Y	probably damaging	Het
Trank1	A	G	9: 111,178,370 (GRCm39)	M353V	probably benign	Het
Trim80	A	T	11: 115,332,006 (GRCm39)	E66V	probably damaging	Het
Txndc16	A	G	14: 45,448,641 (GRCm39)	L73P	probably damaging	Het
Ugt2b34	T	A	5: 87,039,249 (GRCm39)	M471L	probably damaging	Het
Ush2a	G	T	1: 188,178,899 (GRCm39)	V1357L	probably benign	Het
Usp15	G	T	10: 122,959,848 (GRCm39)	P855T		Het
Uspl1	C	T	5: 149,135,491 (GRCm39)	T290I	possibly damaging	Het
Zbtb2	A	C	10: 4,319,084 (GRCm39)	M314R	probably benign	Het
Zcchc2	A	G	1: 105,959,844 (GRCm39)	Y1151C	probably damaging	Het
Zmat3	T	C	3: 32,395,670 (GRCm39)	Y279C	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
R6831:Aqp9	UTSW	9	71,069,702 (GRCm39)	intron	probably benign
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
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'- TCTTGCAACATTGTTGAGCTC -3'
(R):5'- TAAGATTCATTCACCTGTGGCC -3'

Sequencing Primer
(F):5'- ACACTGCCAGCACATTAGGACTG -3'
(R):5'- ATTCACCTGTGGCCTGGGAG -3'

Posted On

2020-07-28