Incidental Mutation 'R9203:Slpi'
ID 698302
Institutional Source Beutler Lab
Gene Symbol Slpi
Ensembl Gene ENSMUSG00000017002
Gene Name secretory leukocyte peptidase inhibitor
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9203 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164195990-164231015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 164196817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 126 (V126I)
Ref Sequence ENSEMBL: ENSMUSP00000104992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109367] [ENSMUST00000165980] [ENSMUST00000167427]
AlphaFold P97430
Predicted Effect probably benign
Transcript: ENSMUST00000109367
AA Change: V126I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104992
Gene: ENSMUSG00000017002
AA Change: V126I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
WAP 32 77 7.06e-5 SMART
WAP 86 131 1.11e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165980
AA Change: V102I

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128025
Gene: ENSMUSG00000017002
AA Change: V102I

DomainStartEndE-ValueType
WAP 8 53 7.06e-5 SMART
WAP 62 107 1.11e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167427
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null mice been independently reported to exhibit increased susceptibility to LPS-induced endotoxin shock with elevated production of IL-6, impaired cutaneous wound healing with increased inflammation and elastase activity, and high susceptibility to pulmonary mycobacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,465,422 (GRCm39) H1686R possibly damaging Het
Ankrd33b A G 15: 31,298,028 (GRCm39) M243T probably benign Het
Appl1 G T 14: 26,682,970 (GRCm39) S104* probably null Het
Appl2 A T 10: 83,476,879 (GRCm39) Y48* probably null Het
Cacna1d T C 14: 29,773,669 (GRCm39) N1694S probably benign Het
Cc2d2a G T 5: 43,891,179 (GRCm39) D1372Y probably benign Het
Cdh4 C T 2: 179,422,196 (GRCm39) R107C probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cfap54 T G 10: 92,880,990 (GRCm39) M358L probably benign Het
Csnka2ip T A 16: 64,298,630 (GRCm39) D578V unknown Het
Ctns T C 11: 73,082,563 (GRCm39) I56V probably benign Het
Dnah9 A G 11: 65,746,113 (GRCm39) I4000T possibly damaging Het
Dock2 A G 11: 34,622,366 (GRCm39) V91A possibly damaging Het
Dpep2 T C 8: 106,712,885 (GRCm39) H335R probably damaging Het
Eno1 C T 4: 150,332,539 (GRCm39) R400* probably null Het
Fam114a1 C A 5: 65,137,300 (GRCm39) P81H probably damaging Het
Gemin6 A G 17: 80,535,237 (GRCm39) T66A probably benign Het
Grm4 T C 17: 27,653,980 (GRCm39) I657V probably benign Het
H2ac22 T C 13: 21,971,057 (GRCm39) N111S probably benign Het
Has3 T C 8: 107,600,852 (GRCm39) C105R probably damaging Het
Hecw1 T C 13: 14,491,243 (GRCm39) E170G probably benign Het
Hoxd3 T C 2: 74,576,744 (GRCm39) V208A probably damaging Het
Hypk C T 2: 121,288,163 (GRCm39) Q75* probably null Het
Itpkb T A 1: 180,161,004 (GRCm39) W377R probably benign Het
Kbtbd2 A T 6: 56,755,987 (GRCm39) V583E probably damaging Het
Kdm5d A G Y: 940,981 (GRCm39) Y1122C probably damaging Het
Kif7 A C 7: 79,354,472 (GRCm39) L771R probably damaging Het
Krt9 C G 11: 100,079,734 (GRCm39) G553R unknown Het
Lama3 G A 18: 12,595,869 (GRCm39) A933T probably benign Het
Muc16 A G 9: 18,462,984 (GRCm39) I7406T unknown Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Ntng2 G T 2: 29,084,998 (GRCm39) C535* probably null Het
Omg A G 11: 79,393,051 (GRCm39) M269T probably benign Het
Or1x6 A T 11: 50,939,161 (GRCm39) T76S possibly damaging Het
Or52e3 A T 7: 102,869,862 (GRCm39) *312C probably null Het
Parp2 T C 14: 51,056,850 (GRCm39) S325P probably benign Het
Pclo C T 5: 14,728,528 (GRCm39) T2462M unknown Het
Pi4ka G T 16: 17,100,165 (GRCm39) H1912N Het
Piezo2 T C 18: 63,290,302 (GRCm39) I152M probably benign Het
Pigv A T 4: 133,392,990 (GRCm39) L60Q probably damaging Het
Plcz1 T A 6: 139,953,481 (GRCm39) K379* probably null Het
Poll T C 19: 45,542,091 (GRCm39) N405S probably benign Het
Pou6f2 T A 13: 18,303,615 (GRCm39) I467F Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Psg26 T C 7: 18,212,382 (GRCm39) I324M probably damaging Het
Ptprh T A 7: 4,574,970 (GRCm39) I350F probably damaging Het
Smarca5 C T 8: 81,431,258 (GRCm39) W986* probably null Het
Sorcs1 A G 19: 50,250,733 (GRCm39) I366T probably damaging Het
Sv2c G T 13: 96,224,745 (GRCm39) S188* probably null Het
Sycp2 T C 2: 177,996,906 (GRCm39) K1099R probably damaging Het
Tdp2 C A 13: 25,020,916 (GRCm39) Y178* probably null Het
Trabd2b A G 4: 114,460,122 (GRCm39) E420G probably damaging Het
Uggt2 A T 14: 119,294,975 (GRCm39) H550Q probably benign Het
Vmn2r66 T C 7: 84,654,950 (GRCm39) K453R probably benign Het
Vsig10l A G 7: 43,112,657 (GRCm39) M1V probably null Het
Wdr70 G A 15: 7,902,684 (GRCm39) S646L probably benign Het
Zfp219 A T 14: 52,246,405 (GRCm39) S241T probably damaging Het
Zfp24 G A 18: 24,147,326 (GRCm39) H329Y probably damaging Het
Other mutations in Slpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03032:Slpi APN 2 164,197,367 (GRCm39) unclassified probably benign
IGL03356:Slpi APN 2 164,198,129 (GRCm39) missense probably benign 0.00
R1367:Slpi UTSW 2 164,196,787 (GRCm39) unclassified probably benign
R1459:Slpi UTSW 2 164,196,837 (GRCm39) missense probably damaging 1.00
R1991:Slpi UTSW 2 164,197,463 (GRCm39) missense probably damaging 1.00
R2103:Slpi UTSW 2 164,197,463 (GRCm39) missense probably damaging 1.00
R3801:Slpi UTSW 2 164,198,158 (GRCm39) missense probably damaging 1.00
R6473:Slpi UTSW 2 164,196,846 (GRCm39) missense probably damaging 1.00
R7253:Slpi UTSW 2 164,197,467 (GRCm39) missense probably benign 0.01
R7264:Slpi UTSW 2 164,198,322 (GRCm39) start gained probably benign
R8359:Slpi UTSW 2 164,197,975 (GRCm39) start codon destroyed probably null
R8722:Slpi UTSW 2 164,197,975 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- CACAGGATCAAAGCCTCAGG -3'
(R):5'- AAGACATGGAGATGTGTTGCCTG -3'

Sequencing Primer
(F):5'- CTCAGGCAATGCTAAGCTTTG -3'
(R):5'- ATGTGTTGCCTGAGCCCTAAGAC -3'
Posted On 2022-02-07