Incidental Mutation 'R2918:Scp2d1'
ID 255363
Institutional Source Beutler Lab
Gene Symbol Scp2d1
Ensembl Gene ENSMUSG00000027431
Gene Name SCP2 sterol-binding domain containing 1
Synonyms 1700010M22Rik
MMRRC Submission 040503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2918 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 144665586-144666335 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144665868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 69 (I69N)
Ref Sequence ENSEMBL: ENSMUSP00000028918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028918]
AlphaFold Q9DAH1
Predicted Effect probably damaging
Transcript: ENSMUST00000028918
AA Change: I69N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028918
Gene: ENSMUSG00000027431
AA Change: I69N

DomainStartEndE-ValueType
Pfam:SCP2 48 151 3.4e-21 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 22,989,579 (GRCm39) N401D probably benign Het
Agtpbp1 T A 13: 59,644,829 (GRCm39) D679V possibly damaging Het
Akap8 A G 17: 32,524,622 (GRCm39) V558A probably benign Het
Arrdc2 C T 8: 71,290,171 (GRCm39) R170Q probably benign Het
Atg10 A T 13: 91,189,027 (GRCm39) H94Q probably damaging Het
Atg4a-ps G A 3: 103,552,837 (GRCm39) A168V probably damaging Het
Crb2 G T 2: 37,673,395 (GRCm39) R97L probably benign Het
Dnaja1 C T 4: 40,724,052 (GRCm39) A71V possibly damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
G6pd2 A G 5: 61,966,869 (GRCm39) R215G probably damaging Het
Hcn3 A G 3: 89,054,920 (GRCm39) S776P probably benign Het
Ift140 C A 17: 25,254,805 (GRCm39) N159K possibly damaging Het
Mafa A G 15: 75,619,147 (GRCm39) S209P probably benign Het
Mug2 A G 6: 122,051,683 (GRCm39) probably null Het
Myh14 T C 7: 44,265,687 (GRCm39) D1564G possibly damaging Het
Ncor2 T A 5: 125,102,824 (GRCm39) I1792F probably damaging Het
Nod2 T C 8: 89,379,519 (GRCm39) F7L probably benign Het
Odad2 G A 18: 7,222,625 (GRCm39) S548L probably benign Het
Or10d5 A G 9: 39,861,660 (GRCm39) S136P probably benign Het
Or1m1 T A 9: 18,666,775 (GRCm39) D52V probably damaging Het
Or2aa1 T C 11: 59,480,265 (GRCm39) T217A probably benign Het
Pak3 T C X: 142,547,972 (GRCm39) V318A probably damaging Het
Pik3ap1 T C 19: 41,290,970 (GRCm39) T521A probably benign Het
Pkdcc G C 17: 83,523,378 (GRCm39) A162P probably benign Het
Rassf4 A G 6: 116,618,701 (GRCm39) V194A probably damaging Het
Spg11 A G 2: 121,905,782 (GRCm39) S1288P probably damaging Het
Sptb A G 12: 76,645,532 (GRCm39) S2019P probably damaging Het
Stxbp5l A T 16: 37,021,004 (GRCm39) L630* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Trpc1 C T 9: 95,605,182 (GRCm39) R159H probably damaging Het
Zbtb14 C T 17: 69,695,214 (GRCm39) P304L probably damaging Het
Other mutations in Scp2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02504:Scp2d1 APN 2 144,665,877 (GRCm39) missense probably damaging 1.00
IGL02681:Scp2d1 APN 2 144,665,804 (GRCm39) missense probably benign 0.03
R3508:Scp2d1 UTSW 2 144,665,918 (GRCm39) missense probably benign 0.01
R4342:Scp2d1 UTSW 2 144,666,087 (GRCm39) missense probably damaging 1.00
R4923:Scp2d1 UTSW 2 144,666,030 (GRCm39) missense probably benign 0.06
R5766:Scp2d1 UTSW 2 144,665,957 (GRCm39) missense possibly damaging 0.92
R6223:Scp2d1 UTSW 2 144,665,868 (GRCm39) missense possibly damaging 0.95
R8954:Scp2d1 UTSW 2 144,665,886 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACCTGATCCTCAAGCGAAG -3'
(R):5'- TCACTTTAAACTTGCCAGCCAG -3'

Sequencing Primer
(F):5'- TGATCCTCAAGCGAAGATCAAAG -3'
(R):5'- AGCCAGGAAAGCCTTCTGTG -3'
Posted On 2014-12-29