Incidental Mutation 'R6513:Sppl3'
ID 520000
Institutional Source Beutler Lab
Gene Symbol Sppl3
Ensembl Gene ENSMUSG00000029550
Gene Name signal peptide peptidase 3
Synonyms 4833416I09Rik, Usmg3
MMRRC Submission 044640-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.645) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 115149204-115236849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115233995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 355 (L355P)
Ref Sequence ENSEMBL: ENSMUSP00000031530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031530] [ENSMUST00000100848]
AlphaFold Q9CUS9
Predicted Effect probably damaging
Transcript: ENSMUST00000031530
AA Change: L355P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550
AA Change: L355P

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PSN 64 361 1.96e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128678
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion exhibit growth retardation, decreased fertility and behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Aox4 A G 1: 58,252,212 (GRCm39) N29S probably benign Het
Arhgap17 T C 7: 122,891,379 (GRCm39) R592G possibly damaging Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cep72 A T 13: 74,206,582 (GRCm39) L73H probably damaging Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Klk1b27 A G 7: 43,705,169 (GRCm39) H112R probably benign Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Lrig2 A T 3: 104,373,045 (GRCm39) I612N probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Pds5a T A 5: 65,772,944 (GRCm39) I1220F probably benign Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Rptn T C 3: 93,303,419 (GRCm39) S251P possibly damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q probably benign Het
Other mutations in Sppl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Sppl3 APN 5 115,212,935 (GRCm39) missense probably benign
IGL02302:Sppl3 APN 5 115,220,390 (GRCm39) missense probably benign 0.43
IGL02381:Sppl3 APN 5 115,212,969 (GRCm39) splice site probably null
IGL02592:Sppl3 APN 5 115,233,970 (GRCm39) missense probably damaging 1.00
IGL02963:Sppl3 APN 5 115,199,662 (GRCm39) missense probably damaging 1.00
R0119:Sppl3 UTSW 5 115,227,053 (GRCm39) unclassified probably benign
R0299:Sppl3 UTSW 5 115,227,053 (GRCm39) unclassified probably benign
R0827:Sppl3 UTSW 5 115,220,392 (GRCm39) nonsense probably null
R1141:Sppl3 UTSW 5 115,226,352 (GRCm39) frame shift probably null
R1321:Sppl3 UTSW 5 115,226,352 (GRCm39) frame shift probably null
R1322:Sppl3 UTSW 5 115,226,352 (GRCm39) frame shift probably null
R1451:Sppl3 UTSW 5 115,226,424 (GRCm39) missense probably damaging 1.00
R3110:Sppl3 UTSW 5 115,212,923 (GRCm39) missense possibly damaging 0.78
R3112:Sppl3 UTSW 5 115,212,923 (GRCm39) missense possibly damaging 0.78
R4701:Sppl3 UTSW 5 115,241,372 (GRCm39) splice site probably null
R4808:Sppl3 UTSW 5 115,221,485 (GRCm39) splice site probably benign
R4931:Sppl3 UTSW 5 115,220,373 (GRCm39) missense probably damaging 1.00
R6993:Sppl3 UTSW 5 115,220,349 (GRCm39) missense probably damaging 0.99
R7326:Sppl3 UTSW 5 115,220,394 (GRCm39) missense probably damaging 0.99
R7384:Sppl3 UTSW 5 115,199,700 (GRCm39) critical splice donor site probably null
R9012:Sppl3 UTSW 5 115,226,987 (GRCm39) missense probably benign 0.38
R9257:Sppl3 UTSW 5 115,221,532 (GRCm39) missense probably benign 0.41
R9258:Sppl3 UTSW 5 115,233,922 (GRCm39) missense probably damaging 1.00
R9306:Sppl3 UTSW 5 115,212,922 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTGCTGTCACCCCAACATG -3'
(R):5'- TCAGCGCCAGTTCTTTAGG -3'

Sequencing Primer
(F):5'- CAGGATGCGGGCTTTCAGAG -3'
(R):5'- AGGTTTCTGCTTCTACACAGGAG -3'
Posted On 2018-06-06