Incidental Mutation 'R7107:Pnliprp1'
ID 551290
Institutional Source Beutler Lab
Gene Symbol Pnliprp1
Ensembl Gene ENSMUSG00000042179
Gene Name pancreatic lipase related protein 1
Synonyms Plrp1
MMRRC Submission 045199-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7107 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 58717319-58732601 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58717582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 9 (L9H)
Ref Sequence ENSEMBL: ENSMUSP00000045465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048644]
AlphaFold Q5BKQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000048644
AA Change: L9H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045465
Gene: ENSMUSG00000042179
AA Change: L9H

DomainStartEndE-ValueType
Pfam:Lipase 18 353 9.1e-157 PFAM
LH2 356 467 1.98e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,867,299 (GRCm39) L253S probably damaging Het
Adgrv1 T C 13: 81,726,261 (GRCm39) E588G probably benign Het
Ahcy G A 2: 154,910,893 (GRCm39) A25V probably damaging Het
Ank2 A C 3: 126,797,631 (GRCm39) L710R probably damaging Het
Ap1b1 A G 11: 4,989,558 (GRCm39) T824A probably benign Het
Arap2 T A 5: 62,763,551 (GRCm39) H1531L probably damaging Het
Atosb A T 4: 43,036,434 (GRCm39) V99E probably benign Het
B3gnt7 T C 1: 86,233,495 (GRCm39) L247P probably damaging Het
Bcl6b A G 11: 70,117,396 (GRCm39) C409R probably damaging Het
Bicdl1 T C 5: 115,808,229 (GRCm39) H301R probably benign Het
Casc3 T A 11: 98,718,413 (GRCm39) I491N possibly damaging Het
Ccdc92b T A 11: 74,520,887 (GRCm39) L63Q probably damaging Het
Cep250 A G 2: 155,837,314 (GRCm39) T2319A probably benign Het
Chd1 T C 17: 15,981,628 (GRCm39) S1356P probably damaging Het
Chd8 A G 14: 52,450,129 (GRCm39) S1542P probably benign Het
Clec2m A G 6: 129,299,915 (GRCm39) C188R probably damaging Het
Cntnap4 A G 8: 113,542,120 (GRCm39) D751G probably damaging Het
Cpsf4l G A 11: 113,593,315 (GRCm39) R90C possibly damaging Het
Defa21 G A 8: 21,515,724 (GRCm39) A41T probably damaging Het
Dennd4a G T 9: 64,801,681 (GRCm39) L941F possibly damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dtx4 A T 19: 12,450,624 (GRCm39) C529* probably null Het
Entpd3 A G 9: 120,389,665 (GRCm39) Y317C probably damaging Het
Erp29 T A 5: 121,583,381 (GRCm39) I182F possibly damaging Het
Fam161a A G 11: 22,973,452 (GRCm39) R445G possibly damaging Het
Fam76a T A 4: 132,631,232 (GRCm39) M238L possibly damaging Het
Fn1 T C 1: 71,666,408 (GRCm39) Y875C probably damaging Het
Gnb2 A G 5: 137,528,444 (GRCm39) probably null Het
Hspg2 T C 4: 137,237,963 (GRCm39) S229P probably damaging Het
Ighv6-6 A G 12: 114,398,590 (GRCm39) S59P probably damaging Het
Itpkc C A 7: 26,927,702 (GRCm39) A71S probably benign Het
Kcnk10 G A 12: 98,485,002 (GRCm39) R45* probably null Het
Krcc1 A G 6: 71,261,198 (GRCm39) S77G probably benign Het
Lelp1 G A 3: 92,042,821 (GRCm39) T76I unknown Het
Lifr A T 15: 7,208,421 (GRCm39) I600F possibly damaging Het
Lrrk1 T A 7: 65,937,191 (GRCm39) D987V possibly damaging Het
Muc16 C T 9: 18,548,594 (GRCm39) D5900N probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo9a A G 9: 59,778,098 (GRCm39) I1285V probably benign Het
Ndel1 T C 11: 68,713,474 (GRCm39) D321G possibly damaging Het
Nlrp4b T C 7: 10,449,144 (GRCm39) V449A probably damaging Het
Or10q12 A G 19: 13,746,525 (GRCm39) E273G probably benign Het
Or2r11 T C 6: 42,437,488 (GRCm39) N155S possibly damaging Het
Or2y1c T A 11: 49,361,261 (GRCm39) Y94* probably null Het
Or51k1 A T 7: 103,661,489 (GRCm39) L140Q probably benign Het
Or5k3 A C 16: 58,969,279 (GRCm39) D22A probably benign Het
Osbpl1a G A 18: 12,974,310 (GRCm39) R459* probably null Het
Pabpc1l A C 2: 163,884,399 (GRCm39) T379P probably damaging Het
Pde2a A T 7: 101,071,175 (GRCm39) Q15L probably benign Het
Pdk1 A G 2: 71,726,085 (GRCm39) N331S probably benign Het
Pfdn1 A T 18: 36,584,519 (GRCm39) probably null Het
Prl7a2 A T 13: 27,843,076 (GRCm39) D242E possibly damaging Het
Prmt9 T A 8: 78,294,880 (GRCm39) I408N possibly damaging Het
Psme4 G A 11: 30,798,105 (GRCm39) R1366H probably benign Het
Pstpip1 A T 9: 56,035,934 (GRCm39) D393V probably damaging Het
Rab5b A G 10: 128,519,062 (GRCm39) probably null Het
Rap1gap2 G A 11: 74,283,945 (GRCm39) R618C probably damaging Het
Rin1 A G 19: 5,100,801 (GRCm39) probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sdk1 A G 5: 142,067,471 (GRCm39) T1124A probably damaging Het
Sirpb1c T A 3: 15,892,941 (GRCm39) T88S possibly damaging Het
Slc35f6 T A 5: 30,814,121 (GRCm39) I189N probably damaging Het
Slc49a3 T A 5: 108,596,581 (GRCm39) probably null Het
Spata31d1e T A 13: 59,889,997 (GRCm39) R608* probably null Het
Spsb2 A T 6: 124,787,244 (GRCm39) Q226L probably benign Het
Stab2 T C 10: 86,741,456 (GRCm39) D1221G possibly damaging Het
Sugp1 G A 8: 70,522,800 (GRCm39) R500H probably benign Het
Syne1 A G 10: 5,082,078 (GRCm39) Y849H probably damaging Het
Tbck T A 3: 132,428,092 (GRCm39) I249N possibly damaging Het
Tdrd6 A C 17: 43,935,095 (GRCm39) F1984L probably benign Het
Tnxb T A 17: 34,890,314 (GRCm39) V219E unknown Het
Tpst1 T A 5: 130,143,344 (GRCm39) V294D probably damaging Het
Treml1 A G 17: 48,667,247 (GRCm39) Q44R probably damaging Het
Trrap G A 5: 144,733,945 (GRCm39) A933T probably benign Het
Vars2 A G 17: 35,969,142 (GRCm39) L853P probably damaging Het
Vmn1r10 A T 6: 57,090,615 (GRCm39) N69I possibly damaging Het
Vmn1r179 T A 7: 23,627,819 (GRCm39) Y3* probably null Het
Vmn2r38 T A 7: 9,093,728 (GRCm39) Y498F probably benign Het
Zc3h11a T C 1: 133,566,655 (GRCm39) T179A probably damaging Het
Zmym2 A G 14: 57,140,169 (GRCm39) T3A probably benign Het
Other mutations in Pnliprp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Pnliprp1 APN 19 58,723,162 (GRCm39) missense probably damaging 1.00
IGL02367:Pnliprp1 APN 19 58,726,601 (GRCm39) missense probably benign
R0463:Pnliprp1 UTSW 19 58,726,628 (GRCm39) nonsense probably null
R0573:Pnliprp1 UTSW 19 58,723,314 (GRCm39) missense possibly damaging 0.89
R0591:Pnliprp1 UTSW 19 58,723,138 (GRCm39) missense probably damaging 1.00
R0608:Pnliprp1 UTSW 19 58,726,628 (GRCm39) nonsense probably null
R1169:Pnliprp1 UTSW 19 58,723,383 (GRCm39) missense probably damaging 1.00
R1575:Pnliprp1 UTSW 19 58,728,901 (GRCm39) missense probably benign 0.07
R1723:Pnliprp1 UTSW 19 58,720,574 (GRCm39) missense possibly damaging 0.79
R1879:Pnliprp1 UTSW 19 58,732,516 (GRCm39) missense probably benign 0.07
R1955:Pnliprp1 UTSW 19 58,723,404 (GRCm39) missense possibly damaging 0.94
R2090:Pnliprp1 UTSW 19 58,728,901 (GRCm39) missense probably benign 0.03
R2092:Pnliprp1 UTSW 19 58,729,616 (GRCm39) missense probably benign 0.02
R2342:Pnliprp1 UTSW 19 58,729,691 (GRCm39) splice site probably benign
R2421:Pnliprp1 UTSW 19 58,732,517 (GRCm39) missense probably benign 0.21
R4716:Pnliprp1 UTSW 19 58,728,901 (GRCm39) missense possibly damaging 0.61
R5463:Pnliprp1 UTSW 19 58,723,168 (GRCm39) missense probably damaging 1.00
R5478:Pnliprp1 UTSW 19 58,723,423 (GRCm39) splice site probably null
R6155:Pnliprp1 UTSW 19 58,718,565 (GRCm39) critical splice donor site probably null
R6284:Pnliprp1 UTSW 19 58,723,416 (GRCm39) missense probably damaging 1.00
R7454:Pnliprp1 UTSW 19 58,729,532 (GRCm39) missense probably benign 0.29
R7470:Pnliprp1 UTSW 19 58,720,457 (GRCm39) missense possibly damaging 0.48
R7574:Pnliprp1 UTSW 19 58,726,681 (GRCm39) missense probably damaging 1.00
R7601:Pnliprp1 UTSW 19 58,720,526 (GRCm39) missense probably damaging 0.99
R8782:Pnliprp1 UTSW 19 58,719,025 (GRCm39) missense probably damaging 1.00
R9081:Pnliprp1 UTSW 19 58,723,406 (GRCm39) missense probably benign
R9445:Pnliprp1 UTSW 19 58,720,628 (GRCm39) intron probably benign
R9466:Pnliprp1 UTSW 19 58,723,081 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGGCTCCTGTGATCA -3'
(R):5'- GGCTGAGCTCCCAATCACTG -3'

Sequencing Primer
(F):5'- GTGATCACAGCAGCCACCTTTG -3'
(R):5'- GTGAACATGTATGTGTCTGCATCTAC -3'
Posted On 2019-05-15