Incidental Mutation 'R3803:Aqp12'
ID 274391
Institutional Source Beutler Lab
Gene Symbol Aqp12
Ensembl Gene ENSMUSG00000045091
Gene Name aquaporin 12
Synonyms
MMRRC Submission 040878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3803 (G1)
Quality Score 192
Status Validated
Chromosome 1
Chromosomal Location 92934056-92939991 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 92934088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000060622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059676]
AlphaFold Q8CHJ2
Predicted Effect probably benign
Transcript: ENSMUST00000059676
SMART Domains Protein: ENSMUSP00000060622
Gene: ENSMUSG00000045091

DomainStartEndE-ValueType
Pfam:MIP 6 250 1.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191179
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,522,033 (GRCm39) N1263S probably benign Het
Alpk1 A C 3: 127,473,486 (GRCm39) V839G possibly damaging Het
Als2 A C 1: 59,206,358 (GRCm39) M1634R probably damaging Het
Aox1 T A 1: 58,329,058 (GRCm39) probably null Het
Arhgap24 T C 5: 103,040,308 (GRCm39) V508A probably damaging Het
Arhgap9 T A 10: 127,165,386 (GRCm39) D598E possibly damaging Het
Btaf1 A T 19: 36,966,373 (GRCm39) H1047L probably benign Het
Btaf1 A T 19: 36,963,948 (GRCm39) T840S probably benign Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Clstn1 A G 4: 149,719,796 (GRCm39) H437R probably damaging Het
Col1a1 A G 11: 94,828,895 (GRCm39) E79G unknown Het
Cspp1 C A 1: 10,196,598 (GRCm39) D157E probably damaging Het
Cyp4f16 T C 17: 32,763,858 (GRCm39) S217P possibly damaging Het
Ddx50 C A 10: 62,475,723 (GRCm39) V333F probably damaging Het
Dnai2 A G 11: 114,629,551 (GRCm39) S193G probably benign Het
Dync2h1 A T 9: 6,935,293 (GRCm39) H4236Q probably benign Het
Emc1 T C 4: 139,094,474 (GRCm39) Y676H possibly damaging Het
Erich6 T A 3: 58,528,753 (GRCm39) Y499F probably damaging Het
Fa2h A G 8: 112,082,030 (GRCm39) probably null Het
Fads2b A T 2: 85,338,682 (GRCm39) probably null Het
Gli1 T A 10: 127,173,934 (GRCm39) probably benign Het
Gm14403 A G 2: 177,200,569 (GRCm39) S172G probably benign Het
Grhl1 C T 12: 24,634,918 (GRCm39) T330M probably damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Gstm3 G A 3: 107,871,551 (GRCm39) T210I probably benign Het
Helz2 A G 2: 180,881,789 (GRCm39) F335L probably damaging Het
Hr G A 14: 70,795,333 (GRCm39) A322T probably benign Het
Hsd17b8 A T 17: 34,245,441 (GRCm39) V231E probably damaging Het
Iapp A G 6: 142,249,151 (GRCm39) N68S probably benign Het
Kctd4 A T 14: 76,200,726 (GRCm39) L232F probably benign Het
Kdm5b A G 1: 134,543,679 (GRCm39) I783V probably benign Het
Larp4b T A 13: 9,208,590 (GRCm39) N414K probably benign Het
Ldb2 T C 5: 44,630,736 (GRCm39) E337G probably benign Het
Lgr4 A G 2: 109,838,542 (GRCm39) K498E probably benign Het
Lipo3 C T 19: 33,762,257 (GRCm39) C80Y probably damaging Het
Luc7l3 A T 11: 94,183,992 (GRCm39) probably benign Het
Ndrg2 C A 14: 52,148,132 (GRCm39) probably null Het
Ndufaf3 C A 9: 108,444,092 (GRCm39) R12L probably benign Het
Nol4 A T 18: 22,828,012 (GRCm39) L634I probably damaging Het
Npr3 C T 15: 11,895,876 (GRCm39) A257T probably damaging Het
Nrg3 G A 14: 38,098,391 (GRCm39) P496S probably damaging Het
Or4g17 A T 2: 111,209,638 (GRCm39) M98L possibly damaging Het
Or51a7 T C 7: 102,615,228 (GRCm39) probably null Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Pclo C T 5: 14,565,416 (GRCm39) Q61* probably null Het
Phf19 A G 2: 34,789,670 (GRCm39) L350P probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Pkhd1l1 T C 15: 44,356,531 (GRCm39) L332P probably benign Het
Prpf4b T C 13: 35,067,665 (GRCm39) probably benign Het
Rgl3 A G 9: 21,887,321 (GRCm39) I500T probably damaging Het
Rgs7 T A 1: 175,016,785 (GRCm39) I62F probably benign Het
Rttn A G 18: 88,995,831 (GRCm39) N205D probably damaging Het
Samd8 G A 14: 21,825,133 (GRCm39) V30M probably damaging Het
Scn7a G A 2: 66,510,590 (GRCm39) Q1271* probably null Het
Skor1 A G 9: 63,052,868 (GRCm39) V339A probably benign Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc5a6 T C 5: 31,200,295 (GRCm39) E130G probably damaging Het
Sorcs2 T A 5: 36,555,150 (GRCm39) K80N probably benign Het
Stc1 T C 14: 69,275,924 (GRCm39) I239T probably benign Het
Steap4 G T 5: 8,026,979 (GRCm39) R314L probably damaging Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Trav7d-4 A T 14: 53,007,575 (GRCm39) K23* probably null Het
Ttn A G 2: 76,641,075 (GRCm39) L13598P probably damaging Het
Vmn2r52 A G 7: 9,907,439 (GRCm39) S96P probably damaging Het
Wdr25 T C 12: 108,864,479 (GRCm39) V208A probably damaging Het
Wdr27 C T 17: 15,138,371 (GRCm39) V360M probably benign Het
Zfp54 T C 17: 21,653,814 (GRCm39) C103R possibly damaging Het
Zfp618 A G 4: 63,051,256 (GRCm39) E679G probably damaging Het
Zfp846 A G 9: 20,505,735 (GRCm39) I532V probably benign Het
Zkscan2 A T 7: 123,094,365 (GRCm39) probably benign Het
Other mutations in Aqp12
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AAATGGCCTGTCTGCAGTACC -3'
(R):5'- TGACCCCATGTACCAGGAAAAG -3'

Sequencing Primer
(F):5'- TACCTCAGCCTGGGGAAGAC -3'
(R):5'- ACCAGGGTCAGCAACAGGTC -3'
Posted On 2015-04-02