Incidental Mutation 'R2971:Plscr2'
ID 265681
Institutional Source Beutler Lab
Gene Symbol Plscr2
Ensembl Gene ENSMUSG00000032372
Gene Name phospholipid scramblase 2
Synonyms PL scramblase
MMRRC Submission 040525-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2971 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 92157655-92179805 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 92172724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 128 (E128*)
Ref Sequence ENSEMBL: ENSMUSP00000136481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034932] [ENSMUST00000113044] [ENSMUST00000180154]
AlphaFold Q9DCW2
Predicted Effect probably null
Transcript: ENSMUST00000034932
AA Change: E128*
SMART Domains Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: E128*

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 null
Transcript: ENSMUST00000180154
AA Change: E128*
SMART Domains Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: E128*

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:Scramblase 84 305 5.1e-94 PFAM
Meta Mutation Damage Score 0.9713 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,749,447 (GRCm39) D1406G possibly damaging Het
Aebp2 T C 6: 140,579,624 (GRCm39) probably null Het
Ap5m1 T A 14: 49,321,339 (GRCm39) Y49* probably null Het
Atp8b5 T C 4: 43,361,953 (GRCm39) probably benign Het
Baz1a A G 12: 54,970,224 (GRCm39) S518P probably damaging Het
Ces1c T A 8: 93,830,821 (GRCm39) D445V probably benign Het
Ctnnbl1 C T 2: 157,713,106 (GRCm39) H464Y probably benign Het
Cyp2j6 T C 4: 96,420,018 (GRCm39) K238E probably benign Het
Gdf10 G A 14: 33,646,148 (GRCm39) R99H probably damaging Het
Gm4779 G A X: 100,836,568 (GRCm39) P116L possibly damaging Het
Gucy2g A G 19: 55,198,708 (GRCm39) S812P probably damaging Het
Ifit3b C T 19: 34,589,417 (GRCm39) Q198* probably null Het
Irgm1 A T 11: 48,757,417 (GRCm39) Y131* probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Myh7b A G 2: 155,474,175 (GRCm39) N1630S probably benign Het
Myo5a T C 9: 75,023,484 (GRCm39) I15T probably damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nme6 A G 9: 109,671,159 (GRCm39) probably benign Het
Or11g25 T A 14: 50,723,065 (GRCm39) I50N probably damaging Het
Or5al6 T C 2: 85,976,908 (GRCm39) T57A probably damaging Het
Plch2 T G 4: 155,075,224 (GRCm39) M797L probably benign Het
Plxna2 T A 1: 194,480,039 (GRCm39) D1403E probably damaging Het
Pou6f2 T C 13: 18,556,552 (GRCm39) T25A unknown Het
Psmb11 T C 14: 54,862,800 (GRCm39) V6A possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptprd T G 4: 76,025,561 (GRCm39) S546R probably benign Het
Rbp3 A G 14: 33,676,411 (GRCm39) N120D probably benign Het
Skint1 C A 4: 111,878,527 (GRCm39) P153H possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Tmem201 A G 4: 149,806,902 (GRCm39) probably benign Het
Ube2v1 T C 2: 167,452,256 (GRCm39) N89D probably damaging Het
Zfp282 A T 6: 47,874,866 (GRCm39) probably null Het
Zfp560 C A 9: 20,260,240 (GRCm39) M207I probably benign Het
Zfp697 T C 3: 98,335,617 (GRCm39) Y461H probably damaging 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
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
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'- GCCATTTCCTGAGTCCAGATC -3'
(R):5'- AAGCTGCTATGGTTACTTCACAC -3'

Sequencing Primer
(F):5'- GAGTCCAGATCATCTCCGCACTG -3'
(R):5'- TCACACTGACCTCCTGGAG -3'
Posted On 2015-02-05