Incidental Mutation 'R9395:Spcs2'
ID 710785
Institutional Source Beutler Lab
Gene Symbol Spcs2
Ensembl Gene ENSMUSG00000035227
Gene Name signal peptidase complex subunit 2 homolog (S. cerevisiae)
Synonyms 5730406I15Rik
MMRRC Submission 068965-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R9395 (G1)
Quality Score 208.009
Status Not validated
Chromosome 7
Chromosomal Location 99486775-99512576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99488924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 221 (T221A)
Ref Sequence ENSEMBL: ENSMUSP00000041152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036274] [ENSMUST00000207063] [ENSMUST00000207137] [ENSMUST00000207406] [ENSMUST00000207580] [ENSMUST00000208465] [ENSMUST00000208477] [ENSMUST00000209032]
AlphaFold Q9CYN2
Predicted Effect probably benign
Transcript: ENSMUST00000036274
AA Change: T221A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000041152
Gene: ENSMUSG00000035227
AA Change: T221A

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
Pfam:SPC25 55 217 2.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207063
AA Change: T185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207137
AA Change: T118A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000207406
Predicted Effect probably benign
Transcript: ENSMUST00000207580
AA Change: T118A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000208465
Predicted Effect probably benign
Transcript: ENSMUST00000208477
AA Change: T247A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000209032
AA Change: T255A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 A T 3: 137,927,477 (GRCm39) I8F probably damaging Het
Ak1 A G 2: 32,523,708 (GRCm39) D207G probably damaging Het
Arhgef28 TAA TA 13: 98,103,692 (GRCm39) probably null Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Cgnl1 T C 9: 71,539,954 (GRCm39) M1097V probably benign Het
Chrm2 G A 6: 36,501,196 (GRCm39) G351D possibly damaging Het
Cntnap2 C A 6: 45,978,244 (GRCm39) R300S probably damaging Het
Cpa5 T C 6: 30,631,280 (GRCm39) L398P probably damaging Het
Csl T A 10: 99,595,020 (GRCm39) N15I probably damaging Het
Csrp3 A T 7: 48,489,231 (GRCm39) V17D probably damaging Het
Cyb5d1 T C 11: 69,284,531 (GRCm39) N207S probably benign Het
Ecel1 A T 1: 87,082,350 (GRCm39) I121N probably damaging Het
Elapor2 T C 5: 9,477,822 (GRCm39) S407P probably benign Het
Gad2 T C 2: 22,514,879 (GRCm39) L119P probably damaging Het
Gpr139 A T 7: 118,743,811 (GRCm39) M258K probably benign Het
Hhipl1 A G 12: 108,285,009 (GRCm39) Y454C probably damaging Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Lpl T A 8: 69,353,952 (GRCm39) I431N probably damaging Het
Myh14 A T 7: 44,274,584 (GRCm39) W1235R possibly damaging Het
Nacc2 A G 2: 25,950,128 (GRCm39) V536A probably damaging Het
Nalf2 C T X: 98,889,097 (GRCm39) R321W probably damaging Het
Neu4 T A 1: 93,950,218 (GRCm39) L59Q probably damaging Het
Obscn T A 11: 58,946,871 (GRCm39) I4088F probably damaging Het
Or8b37 T C 9: 37,959,136 (GRCm39) V206A probably damaging Het
Otof G A 5: 30,532,976 (GRCm39) R1589C probably damaging Het
Pla2g3 C T 11: 3,440,952 (GRCm39) Q306* probably null Het
Pramel12 A G 4: 143,145,605 (GRCm39) E358G probably benign Het
Prl6a1 A T 13: 27,499,400 (GRCm39) H56L possibly damaging Het
Rev3l T C 10: 39,735,219 (GRCm39) probably null Het
Rims2 T A 15: 39,155,664 (GRCm39) F115Y probably damaging Het
Stmn1 C T 4: 134,200,146 (GRCm39) A73V probably damaging Het
Syne1 T A 10: 5,261,728 (GRCm39) K2250I probably damaging Het
Tcf7l2 C T 19: 55,920,200 (GRCm39) Q578* probably null Het
Tgtp2 A T 11: 48,950,083 (GRCm39) M163K probably benign Het
Ttn T C 2: 76,542,006 (GRCm39) N33660S probably benign Het
Txndc11 A G 16: 10,902,683 (GRCm39) F655L probably benign Het
Ubtf G A 11: 102,205,026 (GRCm39) T86I probably damaging Het
Vmn2r89 T A 14: 51,693,783 (GRCm39) W378R probably damaging Het
Zic1 T A 9: 91,247,070 (GRCm39) M1L probably benign Het
Other mutations in Spcs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Spcs2 APN 7 99,488,911 (GRCm39) missense probably benign 0.00
IGL02351:Spcs2 APN 7 99,498,241 (GRCm39) missense probably damaging 1.00
IGL02358:Spcs2 APN 7 99,498,241 (GRCm39) missense probably damaging 1.00
R2870:Spcs2 UTSW 7 99,488,968 (GRCm39) missense probably damaging 1.00
R2870:Spcs2 UTSW 7 99,488,968 (GRCm39) missense probably damaging 1.00
R4065:Spcs2 UTSW 7 99,494,012 (GRCm39) missense possibly damaging 0.75
R4751:Spcs2 UTSW 7 99,493,976 (GRCm39) splice site probably null
R4932:Spcs2 UTSW 7 99,508,038 (GRCm39) missense possibly damaging 0.90
R7826:Spcs2 UTSW 7 99,488,984 (GRCm39) missense probably damaging 1.00
R8949:Spcs2 UTSW 7 99,493,923 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- AGGGACAACTGCATATCTGAACTAG -3'
(R):5'- CAGTTTCCCAGTCGGTTTGG -3'

Sequencing Primer
(F):5'- GAAAACTCTATTCATCCAGGGTGG -3'
(R):5'- TGTCCTGATGCTTAGGTTTGATGAC -3'
Posted On 2022-04-18