Incidental Mutation 'R4528:Plscr2'
ID 333003
Institutional Source Beutler Lab
Gene Symbol Plscr2
Ensembl Gene ENSMUSG00000032372
Gene Name phospholipid scramblase 2
Synonyms PL scramblase
MMRRC Submission 041769-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4528 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 92157655-92179805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92171746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 113 (E113K)
Ref Sequence ENSEMBL: ENSMUSP00000136481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034932] [ENSMUST00000113044] [ENSMUST00000180154]
AlphaFold Q9DCW2
Predicted Effect possibly damaging
Transcript: ENSMUST00000034932
AA Change: E113K

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: E113K

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:Scramblase 84 305 5.1e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113044
SMART Domains Protein: ENSMUSP00000108667
Gene: ENSMUSG00000032372

DomainStartEndE-ValueType
Pfam:Scramblase 1 170 5.8e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156772
Predicted Effect possibly damaging
Transcript: ENSMUST00000180154
AA Change: E113K

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: E113K

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:Scramblase 84 305 5.1e-94 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm A T 9: 53,412,059 (GRCm39) I999K probably benign Het
Camsap3 A G 8: 3,656,515 (GRCm39) E535G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cenpu G T 8: 47,015,457 (GRCm39) G34* probably null Het
Col7a1 C A 9: 108,788,601 (GRCm39) A739D unknown Het
Coro1b T C 19: 4,199,980 (GRCm39) V107A probably benign Het
Cpeb3 T C 19: 37,116,488 (GRCm39) D381G possibly damaging Het
Cyp2a22 T C 7: 26,634,194 (GRCm39) D320G possibly damaging Het
Dcaf1 A T 9: 106,721,403 (GRCm39) K398N probably damaging Het
Etfa A G 9: 55,407,334 (GRCm39) S52P probably damaging Het
Fat4 T A 3: 38,945,443 (GRCm39) H1445Q probably benign Het
Foxred2 T A 15: 77,827,449 (GRCm39) M637L probably benign Het
Gbe1 A T 16: 70,275,225 (GRCm39) I342L probably benign Het
Gm14410 A T 2: 176,885,736 (GRCm39) I176K probably benign Het
Gm14410 G T 2: 176,885,734 (GRCm39) H177N probably damaging Het
Gm1527 T A 3: 28,968,542 (GRCm39) M198K probably damaging Het
Hr T C 14: 70,803,823 (GRCm39) L838P probably damaging Het
Kmt2e T C 5: 23,678,556 (GRCm39) S212P possibly damaging Het
Lims1 T C 10: 58,245,882 (GRCm39) C180R probably damaging Het
Mki67 A T 7: 135,297,088 (GRCm39) S2649T probably damaging Het
Or10x1 T A 1: 174,196,822 (GRCm39) L113H probably damaging Het
Or4f57 T C 2: 111,791,293 (GRCm39) N42D probably damaging Het
Or51t4 A G 7: 102,598,013 (GRCm39) M104V probably damaging Het
Pde4dip C T 3: 97,624,338 (GRCm39) E1399K probably damaging Het
Pex1 T C 5: 3,681,712 (GRCm39) Y1053H probably damaging Het
Pus1 T C 5: 110,922,596 (GRCm39) Y309C probably damaging Het
Scube3 T A 17: 28,381,973 (GRCm39) V333D possibly damaging Het
Serpina11 A T 12: 103,952,592 (GRCm39) N66K probably benign Het
Thtpa T A 14: 55,333,039 (GRCm39) D41E probably damaging Het
Timm10b A G 7: 105,332,013 (GRCm39) N828S probably benign Het
Tlr12 A C 4: 128,511,818 (GRCm39) L144R probably damaging Het
Uba7 A G 9: 107,861,102 (GRCm39) E964G possibly damaging Het
Ugt1a6b T A 1: 88,035,301 (GRCm39) I213N probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Zbtb43 A G 2: 33,352,337 (GRCm39) probably benign Het
Zfp985 A T 4: 147,667,347 (GRCm39) I72F possibly damaging Het
Zfpm1 G A 8: 123,062,381 (GRCm39) R480H probably benign Het
Other mutations in Plscr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Plscr2 APN 9 92,172,685 (GRCm39) splice site probably benign
IGL02496:Plscr2 APN 9 92,171,716 (GRCm39) missense probably benign 0.12
R0401:Plscr2 UTSW 9 92,164,188 (GRCm39) missense probably benign
R0620:Plscr2 UTSW 9 92,169,707 (GRCm39) missense probably benign 0.10
R0879:Plscr2 UTSW 9 92,169,846 (GRCm39) missense probably damaging 1.00
R1829:Plscr2 UTSW 9 92,172,808 (GRCm39) missense probably damaging 1.00
R2022:Plscr2 UTSW 9 92,177,647 (GRCm39) missense probably damaging 1.00
R2237:Plscr2 UTSW 9 92,172,877 (GRCm39) missense probably damaging 1.00
R2971:Plscr2 UTSW 9 92,172,724 (GRCm39) nonsense probably null
R3552:Plscr2 UTSW 9 92,172,848 (GRCm39) missense probably damaging 1.00
R3762:Plscr2 UTSW 9 92,173,133 (GRCm39) missense probably damaging 1.00
R4214:Plscr2 UTSW 9 92,169,790 (GRCm39) missense probably benign 0.09
R4679:Plscr2 UTSW 9 92,169,823 (GRCm39) missense probably benign 0.13
R4708:Plscr2 UTSW 9 92,173,067 (GRCm39) missense probably damaging 1.00
R4709:Plscr2 UTSW 9 92,173,067 (GRCm39) missense probably damaging 1.00
R4831:Plscr2 UTSW 9 92,173,130 (GRCm39) missense possibly damaging 0.89
R5244:Plscr2 UTSW 9 92,173,102 (GRCm39) missense probably benign 0.33
R6102:Plscr2 UTSW 9 92,169,721 (GRCm39) missense probably benign 0.32
R6298:Plscr2 UTSW 9 92,172,772 (GRCm39) missense probably benign 0.05
R6893:Plscr2 UTSW 9 92,172,757 (GRCm39) missense probably benign 0.05
R7320:Plscr2 UTSW 9 92,173,193 (GRCm39) critical splice donor site probably null
R7876:Plscr2 UTSW 9 92,169,781 (GRCm39) missense probably benign
R8220:Plscr2 UTSW 9 92,177,713 (GRCm39) missense probably damaging 1.00
R8340:Plscr2 UTSW 9 92,173,130 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAATCAATCTTGTCTTCTGGAAAGA -3'
(R):5'- CCTACTTCTCAGAATTGGACAGGAGAT -3'

Sequencing Primer
(F):5'- GCAGTCAGTGTTCTTAACCACTGAG -3'
(R):5'- CTCAGAATTGGACAGGAGATAACATC -3'
Posted On 2015-08-18