Incidental Mutation 'R5300:Sppl2c'
ID 405610
Institutional Source Beutler Lab
Gene Symbol Sppl2c
Ensembl Gene ENSMUSG00000049506
Gene Name signal peptide peptidase 2C
Synonyms 4933407P14Rik
MMRRC Submission 042883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R5300 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 104077153-104081989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104077901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 234 (N234Y)
Ref Sequence ENSEMBL: ENSMUSP00000102613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059448] [ENSMUST00000107000]
AlphaFold A2A6C4
Predicted Effect possibly damaging
Transcript: ENSMUST00000059448
AA Change: N234Y

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: N234Y

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:PA 62 169 1.8e-8 PFAM
transmembrane domain 191 213 N/A INTRINSIC
low complexity region 220 237 N/A INTRINSIC
PSN 256 528 1.08e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107000
AA Change: N234Y

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: N234Y

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:PA 62 169 2.3e-8 PFAM
transmembrane domain 191 213 N/A INTRINSIC
low complexity region 220 237 N/A INTRINSIC
PSN 256 528 1.08e-95 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 A G 8: 23,622,517 (GRCm39) K1644E probably benign Het
C7 C A 15: 5,061,432 (GRCm39) G306W probably damaging Het
Ccdc185 A G 1: 182,575,645 (GRCm39) V348A probably benign Het
Cfap58 A T 19: 47,929,595 (GRCm39) I19F probably benign Het
Dnaaf2 C G 12: 69,245,002 (GRCm39) V20L probably damaging Het
Dpy19l3 A G 7: 35,426,735 (GRCm39) Y58H probably damaging Het
Dsc1 T C 18: 20,227,917 (GRCm39) S480G probably damaging Het
Eno4 G A 19: 58,943,982 (GRCm39) probably null Het
Gm136 T G 4: 34,750,930 (GRCm39) K114N probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc37a T A 11: 103,347,784 (GRCm39) L2970F unknown Het
Ly86 C T 13: 37,602,588 (GRCm39) T160I probably benign Het
Mfsd4b1 A C 10: 39,879,027 (GRCm39) F290C probably benign Het
Minar1 A T 9: 89,485,252 (GRCm39) S48R probably damaging Het
Nbeal1 T G 1: 60,274,718 (GRCm39) Y376* probably null Het
Nipbl A T 15: 8,380,981 (GRCm39) S604T probably benign Het
Pml A C 9: 58,154,302 (GRCm39) N190K probably damaging Het
Rin3 C A 12: 102,335,929 (GRCm39) F533L probably benign Het
Scamp1 A G 13: 94,340,670 (GRCm39) V233A probably damaging Het
Tfap2b A G 1: 19,298,677 (GRCm39) K278R probably damaging Het
Tg A G 15: 66,550,704 (GRCm39) Y278C probably damaging Het
Trdn A G 10: 33,071,978 (GRCm39) E215G probably damaging Het
Tssk6 T C 8: 70,355,285 (GRCm39) S110P probably benign Het
Vmn2r15 A T 5: 109,441,974 (GRCm39) L153Q probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Zfp667 A G 7: 6,307,635 (GRCm39) H101R probably benign Het
Zfp772 A T 7: 7,207,157 (GRCm39) M178K probably benign Het
Other mutations in Sppl2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Sppl2c APN 11 104,077,805 (GRCm39) missense possibly damaging 0.83
IGL02326:Sppl2c APN 11 104,078,099 (GRCm39) missense probably benign 0.27
IGL02479:Sppl2c APN 11 104,077,763 (GRCm39) missense probably benign
H8786:Sppl2c UTSW 11 104,077,691 (GRCm39) missense probably benign 0.04
R0083:Sppl2c UTSW 11 104,077,358 (GRCm39) missense probably benign 0.00
R1625:Sppl2c UTSW 11 104,077,995 (GRCm39) missense probably damaging 0.98
R1913:Sppl2c UTSW 11 104,078,715 (GRCm39) missense probably benign 0.15
R2037:Sppl2c UTSW 11 104,077,307 (GRCm39) missense probably benign 0.23
R2869:Sppl2c UTSW 11 104,078,141 (GRCm39) missense probably benign 0.21
R2869:Sppl2c UTSW 11 104,078,141 (GRCm39) missense probably benign 0.21
R2871:Sppl2c UTSW 11 104,078,141 (GRCm39) missense probably benign 0.21
R2871:Sppl2c UTSW 11 104,078,141 (GRCm39) missense probably benign 0.21
R2873:Sppl2c UTSW 11 104,078,141 (GRCm39) missense probably benign 0.21
R3009:Sppl2c UTSW 11 104,078,141 (GRCm39) missense probably benign 0.21
R3010:Sppl2c UTSW 11 104,078,141 (GRCm39) missense probably benign 0.21
R3011:Sppl2c UTSW 11 104,078,141 (GRCm39) missense probably benign 0.21
R4698:Sppl2c UTSW 11 104,079,141 (GRCm39) missense probably benign 0.21
R4718:Sppl2c UTSW 11 104,079,141 (GRCm39) missense probably benign 0.21
R4841:Sppl2c UTSW 11 104,078,478 (GRCm39) missense probably benign 0.06
R4842:Sppl2c UTSW 11 104,078,478 (GRCm39) missense probably benign 0.06
R5248:Sppl2c UTSW 11 104,077,407 (GRCm39) missense possibly damaging 0.88
R5288:Sppl2c UTSW 11 104,078,127 (GRCm39) missense possibly damaging 0.68
R5384:Sppl2c UTSW 11 104,078,127 (GRCm39) missense possibly damaging 0.68
R5386:Sppl2c UTSW 11 104,078,127 (GRCm39) missense possibly damaging 0.68
R5427:Sppl2c UTSW 11 104,078,693 (GRCm39) missense probably benign 0.01
R5452:Sppl2c UTSW 11 104,078,126 (GRCm39) missense probably benign
R5796:Sppl2c UTSW 11 104,078,619 (GRCm39) missense probably benign 0.00
R6112:Sppl2c UTSW 11 104,077,963 (GRCm39) missense probably benign 0.00
R6452:Sppl2c UTSW 11 104,079,017 (GRCm39) missense probably benign 0.01
R6476:Sppl2c UTSW 11 104,077,595 (GRCm39) missense probably benign
R7368:Sppl2c UTSW 11 104,078,430 (GRCm39) missense probably damaging 0.99
R7871:Sppl2c UTSW 11 104,079,342 (GRCm39) splice site probably null
R7896:Sppl2c UTSW 11 104,077,956 (GRCm39) missense possibly damaging 0.94
R7991:Sppl2c UTSW 11 104,078,640 (GRCm39) missense possibly damaging 0.94
R7991:Sppl2c UTSW 11 104,078,189 (GRCm39) missense probably benign 0.00
R8035:Sppl2c UTSW 11 104,078,192 (GRCm39) missense probably benign 0.01
R8221:Sppl2c UTSW 11 104,077,710 (GRCm39) missense probably damaging 0.99
R8243:Sppl2c UTSW 11 104,078,687 (GRCm39) missense probably damaging 1.00
R8462:Sppl2c UTSW 11 104,077,532 (GRCm39) missense possibly damaging 0.47
R8474:Sppl2c UTSW 11 104,078,963 (GRCm39) missense probably benign 0.00
R9368:Sppl2c UTSW 11 104,078,561 (GRCm39) missense probably damaging 1.00
R9507:Sppl2c UTSW 11 104,078,153 (GRCm39) missense probably benign 0.00
R9672:Sppl2c UTSW 11 104,077,344 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTTGGACATTGTCAGCCACAC -3'
(R):5'- TGGCACCCAGGCTAAAGATC -3'

Sequencing Primer
(F):5'- ATTGTCAGCCACACTTACGG -3'
(R):5'- GGCTAAAGATCCCAATCATGACGTAG -3'
Posted On 2016-07-22