Mutagenetix > Incidental Mutation

Incidental Mutation 'R0899:Aqp12'

83776

Institutional Source

Beutler Lab

Gene Symbol

Aqp12

Ensembl Gene

ENSMUSG00000045091

Gene Name

aquaporin 12

Synonyms

MMRRC Submission

039059-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0899 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

92934056-92939991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92934332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 70 (D70N)

Ref Sequence

ENSEMBL: ENSMUSP00000060622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059676]

AlphaFold

Q8CHJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059676
AA Change: D70N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060622
Gene: ENSMUSG00000045091
AA Change: D70N

Domain	Start	End	E-Value	Type
Pfam:MIP	6	250	1.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191179

Meta Mutation Damage Score

0.3358

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.2%
20x: 93.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice deficient for this marker have elevated total cholesterol levels and show an increased susceptibility to caerulein induced acute pancreatitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	T	C	15: 84,833,459 (GRCm39)	K442E	probably damaging	Het
Adamts1	G	A	16: 85,594,940 (GRCm39)	R340*	probably null	Het
Afg3l2	T	C	18: 67,556,047 (GRCm39)	N428S	possibly damaging	Het
Astn1	T	A	1: 158,338,679 (GRCm39)	C475*	probably null	Het
Atp2b1	G	A	10: 98,852,893 (GRCm39)		probably null	Het
Cbln2	T	C	18: 86,734,877 (GRCm39)	S217P	possibly damaging	Het
Ces2h	T	C	8: 105,741,182 (GRCm39)	L58P	probably damaging	Het
Cfap43	C	T	19: 47,736,433 (GRCm39)	G1353R	possibly damaging	Het
Crcp	A	G	5: 130,088,672 (GRCm39)	M91V	probably benign	Het
Cubn	A	G	2: 13,367,139 (GRCm39)	V1577A	possibly damaging	Het
Dthd1	A	G	5: 63,000,271 (GRCm39)	H531R	probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fam3d	A	G	14: 8,364,863 (GRCm38)	I16T	probably damaging	Het
Fat2	C	T	11: 55,147,051 (GRCm39)	G3982S	probably damaging	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fcnb	T	A	2: 27,966,791 (GRCm39)	K247N	probably damaging	Het
Gtf2a1l	A	G	17: 88,976,152 (GRCm39)	N5S		Het
Htr3a	T	A	9: 48,812,752 (GRCm39)	D229V	possibly damaging	Het
Ipo11	A	C	13: 107,037,324 (GRCm39)	L173*	probably null	Het
Jam3	C	A	9: 27,010,253 (GRCm39)	G244W	probably damaging	Het
Lypd11	C	T	7: 24,422,737 (GRCm39)	R112H	probably benign	Het
Mrpl52	C	T	14: 54,664,541 (GRCm39)	R12*	probably null	Het
Myo15a	A	G	11: 60,368,011 (GRCm39)	Y257C	possibly damaging	Het
Myocd	G	A	11: 65,086,018 (GRCm39)	P215L	possibly damaging	Het
Ndst1	T	C	18: 60,840,954 (GRCm39)	T243A	probably benign	Het
Obox5	A	T	7: 15,492,800 (GRCm39)	T252S	probably benign	Het
Or5m13b	A	G	2: 85,753,731 (GRCm39)	T40A	probably benign	Het
Or6c75	T	C	10: 129,337,301 (GRCm39)	F183L	probably damaging	Het
Or7g34	A	C	9: 19,477,843 (GRCm39)	V276G	probably damaging	Het
Osbpl1a	T	C	18: 12,890,747 (GRCm39)	S377G	possibly damaging	Het
Pfkl	A	G	10: 77,841,273 (GRCm39)		probably null	Het
Prdm16	A	T	4: 154,613,366 (GRCm39)	N20K	probably damaging	Het
Prkd1	A	G	12: 50,431,976 (GRCm39)	I589T	probably damaging	Het
Scnn1b	G	A	7: 121,516,938 (GRCm39)	G525S	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Ttn	A	G	2: 76,718,329 (GRCm39)		probably benign	Het
Wap	T	C	11: 6,586,725 (GRCm39)	T125A	probably benign	Het
Wdr86	C	T	5: 24,923,005 (GRCm39)	R229Q	probably benign	Het

Other mutations in Aqp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0266:Aqp12	UTSW	1	92,934,572 (GRCm39)	missense	possibly damaging	0.61
R0488:Aqp12	UTSW	1	92,936,378 (GRCm39)	missense	probably damaging	1.00
R1673:Aqp12	UTSW	1	92,934,606 (GRCm39)	missense	possibly damaging	0.47
R1714:Aqp12	UTSW	1	92,934,681 (GRCm39)	missense	possibly damaging	0.79
R1928:Aqp12	UTSW	1	92,934,332 (GRCm39)	missense	probably damaging	1.00
R2312:Aqp12	UTSW	1	92,934,531 (GRCm39)	missense	probably benign	0.09
R2943:Aqp12	UTSW	1	92,934,387 (GRCm39)	missense	probably damaging	0.98
R3803:Aqp12	UTSW	1	92,934,088 (GRCm39)	start gained	probably benign
R4786:Aqp12	UTSW	1	92,934,177 (GRCm39)	missense	probably damaging	1.00
R7057:Aqp12	UTSW	1	92,939,718 (GRCm39)	missense	probably damaging	1.00
R7372:Aqp12	UTSW	1	92,934,088 (GRCm39)	start gained	probably benign
R7470:Aqp12	UTSW	1	92,936,385 (GRCm39)	missense	probably damaging	1.00
R7854:Aqp12	UTSW	1	92,934,176 (GRCm39)	missense	probably damaging	1.00
R7921:Aqp12	UTSW	1	92,939,730 (GRCm39)	missense	probably benign	0.00
R9055:Aqp12	UTSW	1	92,934,627 (GRCm39)	missense	probably benign	0.10
X0062:Aqp12	UTSW	1	92,936,319 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCCCAGTAGCCAAGTGCAATC -3'
(R):5'- GCAGCCATGAGGCTCTGTAGTAAG -3'

Sequencing Primer
(F):5'- TCCTTGTAGAACCCAGACTGATG -3'
(R):5'- AGGCTCTGTAGTAAGTGTAGTTC -3'

Posted On

2013-11-08