Incidental Mutation 'R8203:Lipf'
ID 635792
Institutional Source Beutler Lab
Gene Symbol Lipf
Ensembl Gene ENSMUSG00000024768
Gene Name lipase, gastric
Synonyms 2310051B21Rik
MMRRC Submission 067626-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R8203 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 33938648-33954213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33944283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 164 (K164R)
Ref Sequence ENSEMBL: ENSMUSP00000025680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025680]
AlphaFold Q9CPP7
Predicted Effect probably benign
Transcript: ENSMUST00000025680
AA Change: K164R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000025680
Gene: ENSMUSG00000024768
AA Change: K164R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Abhydro_lipase 34 96 2.9e-27 PFAM
Pfam:Abhydrolase_1 77 377 2.3e-26 PFAM
Pfam:Abhydrolase_5 78 372 1.5e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,075,369 (GRCm39) I148T probably benign Het
Agbl3 A G 6: 34,776,414 (GRCm39) T307A probably damaging Het
Ahsa1 A G 12: 87,315,042 (GRCm39) D65G probably damaging Het
Aicda T C 6: 122,538,076 (GRCm39) V78A possibly damaging Het
Arhgef5 A G 6: 43,257,579 (GRCm39) D1282G probably damaging Het
Atf7ip T C 6: 136,583,781 (GRCm39) S1271P probably damaging Het
Atrn G A 2: 130,802,469 (GRCm39) D537N probably benign Het
Brd10 A T 19: 29,693,443 (GRCm39) S2017T probably benign Het
Cep170 T A 1: 176,596,877 (GRCm39) Q493H probably benign Het
Cltc A T 11: 86,594,986 (GRCm39) Y1371N possibly damaging Het
Col12a1 T C 9: 79,588,831 (GRCm39) T1095A possibly damaging Het
Cxcr5 T C 9: 44,425,451 (GRCm39) M69V probably benign Het
Cyp2c69 A T 19: 39,869,584 (GRCm39) V145E probably damaging Het
Ddx3y T C Y: 1,269,827 (GRCm39) E185G probably benign Het
Dgke G A 11: 88,941,193 (GRCm39) A330V probably benign Het
Dyrk4 A G 6: 126,871,797 (GRCm39) L157P probably damaging Het
Ermard T A 17: 15,240,548 (GRCm39) S337R possibly damaging Het
Etl4 A T 2: 20,789,916 (GRCm39) M805L possibly damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fmn1 T A 2: 113,355,620 (GRCm39) M785K unknown Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Gabrg3 G A 7: 56,423,008 (GRCm39) T230I possibly damaging Het
Gle1 A G 2: 29,825,522 (GRCm39) D4G probably benign Het
Gm5468 T C 15: 25,414,527 (GRCm39) S26P noncoding transcript Het
Igsf10 A T 3: 59,236,254 (GRCm39) L1309Q probably benign Het
Luc7l C A 17: 26,485,333 (GRCm39) T111K possibly damaging Het
Masp2 A G 4: 148,696,599 (GRCm39) T399A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip1 T C 13: 100,562,328 (GRCm39) I946V probably benign Het
Neb T A 2: 52,039,259 (GRCm39) K6927* probably null Het
Nipal4 A T 11: 46,041,147 (GRCm39) D349E probably damaging Het
Or12j2 A T 7: 139,915,939 (GRCm39) T55S probably benign Het
Or5al7 T A 2: 85,992,844 (GRCm39) I150F probably benign Het
Or7g22 A G 9: 19,049,170 (GRCm39) N294D probably damaging Het
Pdik1l A T 4: 134,006,676 (GRCm39) H154Q unknown Het
Polr2m T G 9: 71,386,768 (GRCm39) M338L probably benign Het
Rab3gap2 T C 1: 184,999,376 (GRCm39) L995P probably damaging Het
Rnf17 T A 14: 56,705,179 (GRCm39) H694Q probably benign Het
Sar1b A G 11: 51,670,524 (GRCm39) K23E probably benign Het
Setd7 A T 3: 51,437,519 (GRCm39) Y245* probably null Het
Shpk A C 11: 73,104,904 (GRCm39) D171A probably benign Het
Slc2a7 G T 4: 150,243,015 (GRCm39) E279* probably null Het
Slco4a1 T C 2: 180,106,592 (GRCm39) V258A probably damaging Het
Srcin1 G T 11: 97,457,539 (GRCm39) P62Q probably damaging Het
Tbc1d2 A G 4: 46,606,476 (GRCm39) F823S probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tdrd9 T A 12: 111,992,064 (GRCm39) V613E probably damaging Het
Tsc1 A G 2: 28,563,007 (GRCm39) probably null Het
Ulk4 A T 9: 120,997,274 (GRCm39) M766K probably damaging Het
Wdr36 G T 18: 32,985,136 (GRCm39) G481* probably null Het
Yme1l1 G A 2: 23,054,538 (GRCm39) R119H probably benign Het
Zfp106 G A 2: 120,349,559 (GRCm39) T1644I probably damaging Het
Other mutations in Lipf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01902:Lipf APN 19 33,948,179 (GRCm39) missense probably benign 0.33
IGL02024:Lipf APN 19 33,953,995 (GRCm39) missense probably damaging 1.00
R1427:Lipf UTSW 19 33,943,000 (GRCm39) missense probably damaging 1.00
R1454:Lipf UTSW 19 33,948,132 (GRCm39) splice site probably benign
R1484:Lipf UTSW 19 33,942,180 (GRCm39) missense probably benign 0.00
R1636:Lipf UTSW 19 33,953,935 (GRCm39) missense probably damaging 1.00
R1720:Lipf UTSW 19 33,943,066 (GRCm39) nonsense probably null
R1916:Lipf UTSW 19 33,943,075 (GRCm39) missense probably benign 0.07
R2010:Lipf UTSW 19 33,950,946 (GRCm39) missense probably benign
R2519:Lipf UTSW 19 33,942,925 (GRCm39) missense probably damaging 0.99
R2937:Lipf UTSW 19 33,950,438 (GRCm39) missense probably damaging 1.00
R4063:Lipf UTSW 19 33,942,965 (GRCm39) missense probably benign 0.43
R4640:Lipf UTSW 19 33,946,197 (GRCm39) missense probably damaging 0.98
R4671:Lipf UTSW 19 33,954,076 (GRCm39) missense possibly damaging 0.94
R4818:Lipf UTSW 19 33,943,088 (GRCm39) missense probably benign 0.04
R5619:Lipf UTSW 19 33,944,292 (GRCm39) missense possibly damaging 0.95
R6034:Lipf UTSW 19 33,942,289 (GRCm39) missense probably benign
R6034:Lipf UTSW 19 33,942,289 (GRCm39) missense probably benign
R6045:Lipf UTSW 19 33,944,244 (GRCm39) missense probably damaging 1.00
R6464:Lipf UTSW 19 33,950,944 (GRCm39) missense probably benign 0.00
R7502:Lipf UTSW 19 33,954,006 (GRCm39) missense probably damaging 1.00
R7649:Lipf UTSW 19 33,943,098 (GRCm39) missense possibly damaging 0.84
R7713:Lipf UTSW 19 33,950,465 (GRCm39) missense probably damaging 1.00
R7714:Lipf UTSW 19 33,943,048 (GRCm39) missense probably damaging 1.00
R8804:Lipf UTSW 19 33,942,198 (GRCm39) missense probably damaging 1.00
R8971:Lipf UTSW 19 33,942,273 (GRCm39) missense probably benign
Z1176:Lipf UTSW 19 33,942,995 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTGGGCCTAAGAACCAGG -3'
(R):5'- CTTTGGATGGAGTTGATGCCAC -3'

Sequencing Primer
(F):5'- TGGGCCTAAGAACCAGGTTGAG -3'
(R):5'- ATTTATCCATCTCTGGGGTAGGAG -3'
Posted On 2020-07-13