Incidental Mutation 'R4932:Spcs2'
ID380637
Institutional Source Beutler Lab
Gene Symbol Spcs2
Ensembl Gene ENSMUSG00000035227
Gene Namesignal peptidase complex subunit 2 homolog (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.824) question?
Stock #R4932 (G1)
Quality Score184
Status Not validated
Chromosome7
Chromosomal Location99837569-99863462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 99858831 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 16 (G16D)
Ref Sequence ENSEMBL: ENSMUSP00000041152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036155] [ENSMUST00000036274] [ENSMUST00000207063] [ENSMUST00000207137] [ENSMUST00000207406] [ENSMUST00000207580] [ENSMUST00000207855] [ENSMUST00000208354] [ENSMUST00000208465] [ENSMUST00000208477] [ENSMUST00000209032]
Predicted Effect probably benign
Transcript: ENSMUST00000036155
SMART Domains Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211

DomainStartEndE-ValueType
low complexity region 41 52 N/A INTRINSIC
Blast:LRR 144 168 4e-6 BLAST
LRR 191 214 2.02e-1 SMART
LRR 232 253 1.67e2 SMART
LRR 257 278 6.41e1 SMART
LRR 371 398 4.09e1 SMART
low complexity region 748 756 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000036274
AA Change: G16D
SMART Domains Protein: ENSMUSP00000041152
Gene: ENSMUSG00000035227
AA Change: G16D

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
Pfam:SPC25 55 217 2.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207063
Predicted Effect probably benign
Transcript: ENSMUST00000207137
Predicted Effect unknown
Transcript: ENSMUST00000207406
AA Change: G16D
Predicted Effect probably benign
Transcript: ENSMUST00000207580
Predicted Effect probably benign
Transcript: ENSMUST00000207855
Predicted Effect probably benign
Transcript: ENSMUST00000208354
Predicted Effect unknown
Transcript: ENSMUST00000208465
AA Change: G16D
Predicted Effect unknown
Transcript: ENSMUST00000208477
AA Change: G10D
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208939
Predicted Effect possibly damaging
Transcript: ENSMUST00000209032
AA Change: G16D

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A T 13: 34,932,630 T121S possibly damaging Het
Abcf1 A T 17: 35,959,450 V616E possibly damaging Het
Adam21 A G 12: 81,558,918 V690A probably benign Het
Afg3l1 A T 8: 123,501,380 T635S probably damaging Het
Ahcyl2 T A 6: 29,890,701 M390K probably benign Het
Ank3 T A 10: 69,898,223 probably null Het
Arhgef3 A T 14: 27,384,213 K151N probably damaging Het
Ccr3 T G 9: 124,029,006 F126C probably damaging Het
Ccser1 A G 6: 61,718,191 D170G possibly damaging Het
Celsr2 T A 3: 108,402,758 D1552V probably damaging Het
Cfap69 G A 5: 5,625,820 L265F probably damaging Het
Chrna9 C T 5: 65,969,190 R96* probably null Het
Cog3 A T 14: 75,732,954 V351D probably damaging Het
Csmd1 C A 8: 16,023,765 R2072L probably damaging Het
Dbf4 G T 5: 8,398,039 H390Q probably benign Het
Dcaf4 T A 12: 83,532,304 C166S possibly damaging Het
Dclk3 T A 9: 111,468,042 L218Q possibly damaging Het
Dip2b T A 15: 100,171,722 W643R probably damaging Het
Dip2c A G 13: 9,623,972 K1091E probably damaging Het
Dis3 T A 14: 99,088,904 H415L probably damaging Het
Dnah7a T A 1: 53,503,578 I2478F possibly damaging Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Doc2a T C 7: 126,848,580 probably benign Het
Dph5 A T 3: 115,899,807 M125L probably benign Het
Dst A T 1: 34,228,683 T5247S possibly damaging Het
Eno4 T G 19: 58,964,457 V477G possibly damaging Het
Exosc8 T C 3: 54,729,290 I207V possibly damaging Het
Fam173a T G 17: 25,791,678 probably null Het
Fat4 T A 3: 39,007,203 S4312T probably benign Het
Fgfr2 T C 7: 130,241,277 D126G probably damaging Het
Fgfr4 A G 13: 55,168,170 T799A unknown Het
Gcn1l1 A T 5: 115,592,144 D839V probably benign Het
Gprin3 A G 6: 59,354,173 V383A probably benign Het
Gpt T C 15: 76,698,840 V361A probably benign Het
Hepacam G A 9: 37,381,764 C217Y probably damaging Het
Hsp90aa1 A T 12: 110,693,717 Y382N probably damaging Het
Htr2a T A 14: 74,642,022 N30K probably benign Het
Jhy A T 9: 40,961,003 M70K possibly damaging Het
Lrrc19 T C 4: 94,640,937 Y36C probably damaging Het
Madcam1 C T 10: 79,665,613 Q171* probably null Het
Mcm8 G A 2: 132,838,709 M544I probably benign Het
Mdga1 C T 17: 29,857,606 G338E probably damaging Het
Mettl7a1 T A 15: 100,305,106 F87Y probably benign Het
Mmp3 A G 9: 7,446,994 D58G probably benign Het
Ms4a10 T C 19: 10,964,768 Y123C probably damaging Het
Ms4a4d T A 19: 11,557,932 I198K probably benign Het
Mthfd1l A T 10: 3,980,241 D112V probably benign Het
N4bp2l2 A C 5: 150,643,141 S567R probably benign Het
Ndufaf2 A G 13: 108,158,476 Y32H probably damaging Het
Nup153 T A 13: 46,712,737 K251* probably null Het
Olfr1186 A G 2: 88,525,735 T51A probably benign Het
Olfr481 T A 7: 108,081,574 V260E probably damaging Het
Olfr551 A G 7: 102,588,416 F109S probably damaging Het
Otoa T C 7: 121,155,135 S928P probably damaging Het
Oxct2a T C 4: 123,322,703 D295G probably benign Het
P4ha2 C A 11: 54,125,020 T411K probably benign Het
Plcg2 A T 8: 117,607,083 Q865L probably benign Het
Prepl G T 17: 85,078,504 T244K possibly damaging Het
Ptpro A T 6: 137,411,105 K776* probably null Het
Rc3h2 T C 2: 37,389,832 K462E possibly damaging Het
Scn10a A G 9: 119,687,874 probably null Het
Serpinb1c A G 13: 32,882,164 V266A probably damaging Het
Slc6a20b T A 9: 123,604,796 N326Y probably damaging Het
Spns3 T C 11: 72,499,495 D441G possibly damaging Het
Srsf4 A G 4: 131,891,245 D49G probably damaging Het
Tec A T 5: 72,760,393 C494* probably null Het
Tecpr1 A T 5: 144,204,658 Y798N probably damaging Het
Trim56 C T 5: 137,114,489 E58K probably damaging Het
Ttn A T 2: 76,796,134 D13146E probably damaging Het
Ube2q1 A T 3: 89,779,483 K215* probably null Het
Ucn G T 5: 31,138,498 T8K probably benign Het
Usp25 T C 16: 77,033,982 probably null Het
Usp48 A T 4: 137,615,833 Q430L probably benign Het
Usp48 A T 4: 137,615,834 Q430H probably null Het
Vill A T 9: 119,061,511 D164V probably damaging Het
Vmn2r91 T A 17: 18,136,489 M806K possibly damaging Het
Wdfy4 T A 14: 33,029,013 Y2256F probably damaging Het
Wsb1 A G 11: 79,251,000 S64P probably damaging Het
Zc3h11a C A 1: 133,624,612 V586F probably benign Het
Zc3h12d A G 10: 7,853,250 D126G probably damaging Het
Zfp296 G T 7: 19,579,712 C164F possibly damaging Het
Zfp442 T A 2: 150,409,715 H89L possibly damaging Het
Zfp82 T A 7: 30,056,887 K287* probably null Het
Zmynd8 A G 2: 165,834,951 V249A possibly damaging Het
Other mutations in Spcs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Spcs2 APN 7 99839704 missense probably benign 0.00
IGL02351:Spcs2 APN 7 99849034 missense probably damaging 1.00
IGL02358:Spcs2 APN 7 99849034 missense probably damaging 1.00
R2870:Spcs2 UTSW 7 99839761 missense probably damaging 1.00
R2870:Spcs2 UTSW 7 99839761 missense probably damaging 1.00
R4065:Spcs2 UTSW 7 99844805 missense possibly damaging 0.75
R4751:Spcs2 UTSW 7 99844769 splice site probably null
Predicted Primers PCR Primer
(F):5'- GGGCAAGTTACAAGTGTGCG -3'
(R):5'- CAGATTCTAACTACAAGTCCCGTC -3'

Sequencing Primer
(F):5'- CAAGTTACAAGTGTGCGTTCGTG -3'
(R):5'- TTCTAACTACAAGTCCCGTCAAGCC -3'
Posted OnApr 15, 2016