Incidental Mutation 'IGL00814:Sppl2c'
ID 277982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sppl2c
Ensembl Gene ENSMUSG00000049506
Gene Name signal peptide peptidase 2C
Synonyms 4933407P14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL00814
Quality Score
Status
Chromosome 11
Chromosomal Location 104077153-104081989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104077805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 202 (G202S)
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: G202S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: G202S

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: G202S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: G202S

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cops6 G T 5: 138,161,640 (GRCm39) R58L probably damaging Het
Elmo1 T A 13: 20,470,894 (GRCm39) M262K probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Gria4 A T 9: 4,472,202 (GRCm39) M429K probably damaging Het
Hipk2 G A 6: 38,795,484 (GRCm39) R262W probably damaging Het
Kif23 A T 9: 61,844,389 (GRCm39) I143K possibly damaging Het
Mbtd1 T A 11: 93,834,666 (GRCm39) S615T possibly damaging Het
Nlrp9c C T 7: 26,084,175 (GRCm39) S468N probably benign Het
Nt5c2 A T 19: 46,886,087 (GRCm39) D212E probably benign Het
Or52e19 A T 7: 102,959,014 (GRCm39) I29L probably benign Het
Pck2 T C 14: 55,785,756 (GRCm39) probably benign Het
Pdcd6ip T C 9: 113,516,721 (GRCm39) Q230R probably damaging Het
Pomk T C 8: 26,473,624 (GRCm39) T110A probably benign Het
Psg23 C T 7: 18,348,608 (GRCm39) W66* probably null Het
Rnf144b T C 13: 47,373,964 (GRCm39) probably benign Het
Thnsl2 A C 6: 71,116,867 (GRCm39) L95R probably damaging Het
Ttn A G 2: 76,637,511 (GRCm39) V12248A probably benign Het
Other mutations in Sppl2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5300:Sppl2c UTSW 11 104,077,901 (GRCm39) missense possibly damaging 0.52
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
Posted On 2015-04-16