Incidental Mutation 'R4214:Plscr2'
ID 319356
Institutional Source Beutler Lab
Gene Symbol Plscr2
Ensembl Gene ENSMUSG00000032372
Gene Name phospholipid scramblase 2
Synonyms PL scramblase
MMRRC Submission 041041-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4214 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 92157655-92179805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92169790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 80 (N80S)
Ref Sequence ENSEMBL: ENSMUSP00000136481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034932] [ENSMUST00000113044] [ENSMUST00000180154]
AlphaFold Q9DCW2
Predicted Effect probably benign
Transcript: ENSMUST00000034932
AA Change: N80S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: N80S

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 probably benign
Transcript: ENSMUST00000180154
AA Change: N80S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: N80S

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:Scramblase 84 305 5.1e-94 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.5%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik C T 1: 192,515,845 (GRCm39) noncoding transcript Het
Abca12 T A 1: 71,327,856 (GRCm39) D1408V probably damaging Het
Abca13 A T 11: 9,243,877 (GRCm39) L1913F probably damaging Het
Acad9 A G 3: 36,127,752 (GRCm39) E118G probably damaging Het
Adamts5 G A 16: 85,665,531 (GRCm39) A590V probably damaging Het
Ano6 A C 15: 95,863,790 (GRCm39) Y791S probably benign Het
Aox1 T C 1: 58,346,603 (GRCm39) probably null Het
Aox4 T A 1: 58,261,051 (GRCm39) I128N probably damaging Het
Atp2b3 A G X: 72,613,921 (GRCm39) M1142V probably benign Het
AU041133 A G 10: 81,987,223 (GRCm39) H292R probably damaging Het
Bco2 A G 9: 50,456,666 (GRCm39) M158T probably benign Het
Bpnt1 T A 1: 185,077,626 (GRCm39) probably benign Het
Cadm1 A G 9: 47,708,741 (GRCm39) D157G probably damaging Het
Catsperg1 T C 7: 28,895,357 (GRCm39) R499G possibly damaging Het
Ccr7 T C 11: 99,035,872 (GRCm39) E350G probably damaging Het
Ceacam5 T A 7: 17,486,076 (GRCm39) S524R probably benign Het
Cep78 T C 19: 15,936,943 (GRCm39) T588A probably benign Het
Cfap65 T A 1: 74,966,840 (GRCm39) E282D possibly damaging Het
Drd2 A G 9: 49,316,221 (GRCm39) K327R probably benign Het
Erich5 C T 15: 34,471,557 (GRCm39) P262L possibly damaging Het
Ezh2 A C 6: 47,510,748 (GRCm39) D578E probably damaging Het
Fez1 A G 9: 36,781,784 (GRCm39) N20S probably damaging Het
Folr2 T G 7: 101,492,906 (GRCm39) K39T probably damaging Het
Gm10549 G T 18: 33,597,530 (GRCm39) probably null Het
Gm14393 C T 2: 174,903,640 (GRCm39) C89Y probably benign Het
Gm5329 T G 7: 31,671,828 (GRCm39) noncoding transcript Het
Gm7367 A G 7: 59,805,517 (GRCm39) noncoding transcript Het
Gpr162 A T 6: 124,837,031 (GRCm39) W338R probably damaging Het
Ift80 A T 3: 68,898,141 (GRCm39) F65I possibly damaging Het
Klra6 T G 6: 129,995,885 (GRCm39) I158L probably benign Het
Lpp T A 16: 24,580,804 (GRCm39) Y173* probably null Het
Lrp12 A G 15: 39,735,976 (GRCm39) V671A probably benign Het
Lrrc27 C T 7: 138,803,609 (GRCm39) R178C probably damaging Het
Lrrc49 G A 9: 60,573,609 (GRCm39) T225M probably benign Het
Megf8 T A 7: 25,054,793 (GRCm39) S1915T probably benign Het
Mmadhc T C 2: 50,181,344 (GRCm39) T109A probably benign Het
Mon2 T C 10: 122,852,397 (GRCm39) E992G probably benign Het
Msl3 A G X: 167,450,059 (GRCm39) I267T probably damaging Het
Msl3 A T X: 167,445,430 (GRCm39) N430K probably damaging Het
Nab2 G T 10: 127,500,917 (GRCm39) Y25* probably null Het
Notch3 T C 17: 32,351,181 (GRCm39) E1938G possibly damaging Het
Or5ae2 C T 7: 84,506,497 (GRCm39) H307Y probably benign Het
Osgepl1 A G 1: 53,354,167 (GRCm39) T44A probably damaging Het
Pdpr A G 8: 111,856,212 (GRCm39) probably benign Het
Pfkp A G 13: 6,669,261 (GRCm39) S241P probably damaging Het
Phgdh A T 3: 98,235,377 (GRCm39) S166T possibly damaging Het
Plcl1 C T 1: 55,790,494 (GRCm39) Q1055* probably null Het
Polr3k A T 2: 181,510,035 (GRCm39) M80L probably benign Het
Prex2 A G 1: 11,171,383 (GRCm39) D304G probably damaging Het
Prex2 A G 1: 11,355,285 (GRCm39) T1529A probably damaging Het
Rcvrn A T 11: 67,586,514 (GRCm39) H91L possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Tbx18 T C 9: 87,606,518 (GRCm39) Y209C probably damaging Het
Themis3 T C 17: 66,867,012 (GRCm39) N76S probably benign Het
Trhde A T 10: 114,623,975 (GRCm39) S310T possibly damaging Het
Vmn1r213 G A 13: 23,196,173 (GRCm39) C252Y possibly damaging Het
Zfp523 T C 17: 28,420,003 (GRCm39) V216A 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
R4528:Plscr2 UTSW 9 92,171,746 (GRCm39) missense possibly damaging 0.87
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'- GCTGATATCTTTTCTCCATGAAGTCG -3'
(R):5'- CCAGAGGGCATATAGGAATATGTC -3'

Sequencing Primer
(F):5'- TCTCCATGAAGTCGAAAATCACTG -3'
(R):5'- GGCATATAGGAATATGTCATGCTTTG -3'
Posted On 2015-06-10