Incidental Mutation 'R2160:Sprn'
ID 235112
Institutional Source Beutler Lab
Gene Symbol Sprn
Ensembl Gene ENSMUSG00000045733
Gene Name shadow of prion protein
Synonyms shadoo
MMRRC Submission 040163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2160 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 139730541-139734572 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 139733419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036977] [ENSMUST00000059241]
AlphaFold Q8BWU1
Predicted Effect probably benign
Transcript: ENSMUST00000036977
SMART Domains Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018

DomainStartEndE-ValueType
SCOP:d1egaa1 31 129 5e-6 SMART
Pfam:FeoB_N 143 219 3.9e-6 PFAM
Pfam:MMR_HSR1 144 283 2.4e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000059241
AA Change: R51M
SMART Domains Protein: ENSMUSP00000053901
Gene: ENSMUSG00000045733
AA Change: R51M

DomainStartEndE-ValueType
Pfam:Shadoo 19 147 7.2e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155723
Predicted Effect unknown
Transcript: ENSMUST00000156791
AA Change: R12M
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal survival but abnormal body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb9b A G 2: 154,161,595 (GRCm39) N576D possibly damaging Het
Braf C T 6: 39,639,007 (GRCm39) C248Y probably damaging Het
Carmil2 A G 8: 106,423,680 (GRCm39) E1218G possibly damaging Het
Cntnap4 G T 8: 113,484,203 (GRCm39) G419C probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah9 C T 11: 66,008,309 (GRCm39) D839N probably damaging Het
Evc2 A G 5: 37,537,862 (GRCm39) T517A possibly damaging Het
Fbxw8 G A 5: 118,263,053 (GRCm39) P209S probably damaging Het
Gcm1 A G 9: 77,968,662 (GRCm39) K121E probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Herc2 A G 7: 55,862,670 (GRCm39) D4077G probably benign Het
Inpp4b T A 8: 82,848,004 (GRCm39) L937* probably null Het
Ipcef1 A T 10: 6,840,650 (GRCm39) I349N probably damaging Het
Ipmk A G 10: 71,217,256 (GRCm39) T267A probably benign Het
Jph3 G T 8: 122,479,970 (GRCm39) R216L possibly damaging Het
Kctd16 A G 18: 40,392,138 (GRCm39) E242G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Krt76 A G 15: 101,796,820 (GRCm39) Y360H probably damaging Het
Lctl A G 9: 64,025,049 (GRCm39) I12V probably benign Het
Lrig3 T C 10: 125,833,565 (GRCm39) V347A possibly damaging Het
Lrrk2 C T 15: 91,680,263 (GRCm39) S2058F probably damaging Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mon2 T A 10: 122,911,834 (GRCm39) K12* probably null Het
Nup58 A G 14: 60,476,957 (GRCm39) V238A probably benign Het
Pak5 T C 2: 135,940,302 (GRCm39) D504G probably benign Het
Pla2g4e T C 2: 120,015,687 (GRCm39) S286G probably benign Het
Ppfia4 A T 1: 134,241,461 (GRCm39) V498D probably benign Het
Ppfibp1 A G 6: 146,928,951 (GRCm39) E846G probably damaging Het
Ppp3ca G A 3: 136,583,391 (GRCm39) C166Y probably damaging Het
Prpf3 T C 3: 95,752,542 (GRCm39) K244E probably benign Het
Pzp A G 6: 128,502,239 (GRCm39) S37P probably damaging Het
Rab11fip3 G A 17: 26,288,028 (GRCm39) H42Y probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thap12 A G 7: 98,359,333 (GRCm39) S71G probably damaging Het
Vmn1r7 A G 6: 57,001,879 (GRCm39) F127S probably damaging Het
Vmn2r54 C T 7: 12,349,420 (GRCm39) V721I probably benign Het
Vmn2r56 A G 7: 12,428,146 (GRCm39) F707L probably benign Het
Zfp976 C T 7: 42,263,354 (GRCm39) S161N probably benign Het
Other mutations in Sprn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1752:Sprn UTSW 7 139,733,408 (GRCm39) unclassified probably benign
R1922:Sprn UTSW 7 139,733,458 (GRCm39) unclassified probably benign
R4696:Sprn UTSW 7 139,733,469 (GRCm39) unclassified probably benign
R8528:Sprn UTSW 7 139,733,423 (GRCm39) unclassified probably benign
R9102:Sprn UTSW 7 139,733,278 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AAATACGTGGGCTGTGCACG -3'
(R):5'- ACAGAAGCTGAAGCCCCTTC -3'

Sequencing Primer
(F):5'- AGTAGCTGTAGACTCCTCGGTC -3'
(R):5'- GCTGAAGCCCCTTCCACCC -3'
Posted On 2014-10-01