Mutagenetix > Incidental Mutation

Incidental Mutation 'R2312:Aqp12'

247321

Institutional Source

Beutler Lab

Gene Symbol

Aqp12

Ensembl Gene

ENSMUSG00000045091

Gene Name

aquaporin 12

Synonyms

MMRRC Submission

040311-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2312 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

92934056-92939991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92934531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 136 (E136G)

Ref Sequence

ENSEMBL: ENSMUSP00000060622 (fasta)

Gene Model

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

AlphaFold

Q8CHJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000059676
AA Change: E136G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000060622
Gene: ENSMUSG00000045091
AA Change: E136G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191179

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bltp3b	A	G	10: 89,616,995 (GRCm39)	T179A	probably damaging	Het
Cdhr4	G	A	9: 107,872,486 (GRCm39)	V244I	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crygf	A	T	1: 65,965,717 (GRCm39)	M1L	probably benign	Het
Dapk1	G	T	13: 60,905,167 (GRCm39)	C959F	probably damaging	Het
Dop1a	C	G	9: 86,403,495 (GRCm39)	S1565*	probably null	Het
Eya4	A	G	10: 22,982,163 (GRCm39)	S622P	probably damaging	Het
Fbln1	T	C	15: 85,147,549 (GRCm39)	V598A	probably benign	Het
Gldc	A	T	19: 30,078,226 (GRCm39)	F924I	probably damaging	Het
H1f10	T	C	6: 87,958,130 (GRCm39)	Y70C	probably damaging	Het
Herc1	C	A	9: 66,415,563 (GRCm39)	S4846*	probably null	Het
Jmjd1c	A	T	10: 67,074,629 (GRCm39)	K1917N	probably damaging	Het
Kcnh2	A	G	5: 24,529,952 (GRCm39)		probably null	Het
Lmtk2	T	C	5: 144,110,444 (GRCm39)	F388S	probably damaging	Het
Lpar1	A	C	4: 58,487,168 (GRCm39)	Y34*	probably null	Het
Lrpprc	G	A	17: 85,080,686 (GRCm39)	P180S	probably damaging	Het
Mex3a	A	G	3: 88,443,785 (GRCm39)	H287R	probably damaging	Het
Nid1	A	G	13: 13,675,078 (GRCm39)	T933A	probably benign	Het
Or52r1c	A	G	7: 102,735,633 (GRCm39)	T298A	probably damaging	Het
Pcdhb7	A	G	18: 37,475,250 (GRCm39)	T129A	probably benign	Het
Pfkm	T	A	15: 98,023,456 (GRCm39)	Y385N	probably damaging	Het
Prmt2	G	A	10: 76,062,089 (GRCm39)	Q39*	probably null	Het
Prx	T	C	7: 27,216,051 (GRCm39)	V184A	possibly damaging	Het
Ptgdr	A	C	14: 45,096,619 (GRCm39)	L31R	probably damaging	Het
Rab3b	A	G	4: 108,747,691 (GRCm39)	T63A	probably damaging	Het
Rassf1	T	C	9: 107,434,749 (GRCm39)	M156T	probably damaging	Het
Rhobtb1	C	A	10: 69,106,293 (GRCm39)	S286*	probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rmnd1	A	T	10: 4,377,466 (GRCm39)	M71K	probably benign	Het
Rnf130	T	A	11: 49,978,290 (GRCm39)		probably null	Het
Rxrb	T	A	17: 34,251,103 (GRCm39)		probably benign	Het
Ryr2	G	T	13: 11,753,128 (GRCm39)	T1731K	probably damaging	Het
Serpine2	A	T	1: 79,780,570 (GRCm39)	L293Q	probably damaging	Het
Skint6	T	C	4: 113,095,339 (GRCm39)	T107A	probably damaging	Het
Slc9a8	T	A	2: 167,293,196 (GRCm39)	H181Q	probably benign	Het
Spaca3	A	T	11: 80,754,037 (GRCm39)	Y58F	possibly damaging	Het
Sptbn1	T	C	11: 30,104,249 (GRCm39)	T152A	probably damaging	Het
Tlr2	A	G	3: 83,744,847 (GRCm39)	L412P	probably damaging	Het
Trak2	A	G	1: 58,974,941 (GRCm39)	S84P	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm2	C	A	10: 77,754,798 (GRCm39)	E1229D	probably benign	Het
Ttc14	A	G	3: 33,861,984 (GRCm39)		probably null	Het
Tyrp1	G	A	4: 80,755,801 (GRCm39)	W190*	probably null	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vegfb	C	A	19: 6,962,795 (GRCm39)	R160L	possibly damaging	Het
Vmn1r220	A	G	13: 23,368,147 (GRCm39)	M183T	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Wnt10a	C	A	1: 74,842,589 (GRCm39)	A355E	possibly damaging	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
R0899:Aqp12	UTSW	1	92,934,332 (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
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'- CCTGCTTTTCCTGGTACATGGG -3'
(R):5'- TGGGGTCCTGCTAGATCTAG -3'

Sequencing Primer
(F):5'- ACATGGGGTCACCTTCGATG -3'
(R):5'- CCTGTGTAGGCCATGAGAGTGAC -3'

Posted On

2014-11-11