Incidental Mutation 'R4065:Spcs2'
ID 316060
Institutional Source Beutler Lab
Gene Symbol Spcs2
Ensembl Gene ENSMUSG00000035227
Gene Name signal peptidase complex subunit 2 homolog (S. cerevisiae)
Synonyms 5730406I15Rik
MMRRC Submission 040972-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R4065 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 99486775-99512576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99494012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 164 (I164T)
Ref Sequence ENSEMBL: ENSMUSP00000146406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036274] [ENSMUST00000207063] [ENSMUST00000207137] [ENSMUST00000207406] [ENSMUST00000207580] [ENSMUST00000208465] [ENSMUST00000209032] [ENSMUST00000208477]
AlphaFold Q9CYN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000036274
AA Change: I130T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041152
Gene: ENSMUSG00000035227
AA Change: I130T

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: I94T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000207137
AA Change: I27T

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207406
AA Change: I130T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000207580
AA Change: I27T

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000208465
Predicted Effect possibly damaging
Transcript: ENSMUST00000209032
AA Change: I164T

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208477
AA Change: I156T

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208939
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 89,966,073 (GRCm39) R178* probably null Het
Abcc9 T C 6: 142,591,616 (GRCm39) E769G probably damaging Het
Adcy9 C A 16: 4,106,298 (GRCm39) V939F probably damaging Het
Atg2a T C 19: 6,308,396 (GRCm39) F1643S probably damaging Het
B430305J03Rik A G 3: 61,271,646 (GRCm39) probably benign Het
C2cd5 A G 6: 143,019,397 (GRCm39) I306T probably benign Het
Camk1d A T 2: 5,570,584 (GRCm39) F26I probably damaging Het
Cant1 G T 11: 118,298,823 (GRCm39) D313E probably benign Het
Dhx29 T A 13: 113,101,276 (GRCm39) probably null Het
Dnah12 A G 14: 26,492,405 (GRCm39) I1182V probably benign Het
Dnajc21 A G 15: 10,451,639 (GRCm39) probably null Het
Dnajc7 T C 11: 100,492,607 (GRCm39) Y38C probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Dync2i2 A G 2: 29,922,820 (GRCm39) L309P probably benign Het
Fat4 A T 3: 39,063,346 (GRCm39) H4434L probably benign Het
Fbxo16 T A 14: 65,508,278 (GRCm39) N31K probably damaging Het
Foxj3 T C 4: 119,467,206 (GRCm39) I183T probably benign Het
Fras1 T A 5: 96,918,542 (GRCm39) I3526K possibly damaging Het
Fshr T C 17: 89,293,394 (GRCm39) Y428C probably damaging Het
Gm11437 A G 11: 84,055,337 (GRCm39) V93A probably benign Het
Gm12258 C T 11: 58,749,352 (GRCm39) L176F probably benign Het
Grem1 A G 2: 113,580,033 (GRCm39) L156P probably damaging Het
Hecw1 T C 13: 14,491,016 (GRCm39) S659G probably damaging Het
Lamc3 C A 2: 31,835,270 (GRCm39) H1530Q probably benign Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mga T C 2: 119,777,483 (GRCm39) V1846A probably damaging Het
Mthfd1l A G 10: 3,982,242 (GRCm39) H483R probably damaging Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Mvp A G 7: 126,595,489 (GRCm39) V207A probably damaging Het
Nsun2 T C 13: 69,760,579 (GRCm39) probably null Het
Or13a26 T C 7: 140,284,182 (GRCm39) L6P probably benign Het
Or8g55 T C 9: 39,784,718 (GRCm39) I49T possibly damaging Het
Pcnx4 T C 12: 72,603,134 (GRCm39) probably null Het
Plxna4 T A 6: 32,213,300 (GRCm39) K637* probably null Het
Ppm1d A G 11: 85,236,678 (GRCm39) T486A probably benign Het
Prb1a T A 6: 132,184,658 (GRCm39) Q325L unknown Het
Sf3a1 T A 11: 4,117,824 (GRCm39) F195L probably damaging Het
Ssbp4 T C 8: 71,052,210 (GRCm39) T77A possibly damaging Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uhrf1 T A 17: 56,625,020 (GRCm39) I521N probably damaging Het
Uros A G 7: 133,304,057 (GRCm39) probably null Het
Usp47 A G 7: 111,652,623 (GRCm39) D100G probably benign Het
Utp6 T C 11: 79,837,073 (GRCm39) R337G probably damaging Het
Vcan T C 13: 89,828,006 (GRCm39) T3147A probably damaging Het
Wdfy3 C T 5: 102,070,313 (GRCm39) V1152I probably benign Het
Zfp654 G A 16: 64,606,288 (GRCm39) T638M possibly damaging 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
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
R9395:Spcs2 UTSW 7 99,488,924 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGAATCATGACAATGCCAGAGC -3'
(R):5'- TGAGGTGTCTAGAGAGCTAACC -3'

Sequencing Primer
(F):5'- CAAGCACCACACCAGTCCTTAAG -3'
(R):5'- GCTAACCAGAGAGAGCCTTGC -3'
Posted On 2015-05-15