Incidental Mutation 'IGL02496:Plscr2'
ID295832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plscr2
Ensembl Gene ENSMUSG00000032372
Gene Namephospholipid scramblase 2
SynonymsPL scramblase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02496
Quality Score
Status
Chromosome9
Chromosomal Location92275602-92297752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92289663 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 103 (I103V)
Ref Sequence ENSEMBL: ENSMUSP00000136481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034932] [ENSMUST00000113044] [ENSMUST00000180154]
Predicted Effect probably benign
Transcript: ENSMUST00000034932
AA Change: I103V

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: I103V

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: I103V

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: I103V

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:Scramblase 84 305 5.1e-94 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,288,553 H1456P possibly damaging Het
Abcg1 C A 17: 31,105,604 H274Q probably damaging Het
Adamts4 G A 1: 171,250,943 R44Q probably benign Het
Amigo2 A T 15: 97,245,613 C309* probably null Het
Ccdc88c A C 12: 100,953,293 S446A probably benign Het
Cd9 A T 6: 125,472,495 V28E probably damaging Het
Cops2 A T 2: 125,836,243 probably benign Het
Csn1s1 C T 5: 87,677,594 probably benign Het
Cul9 G T 17: 46,540,376 R373S possibly damaging Het
D630045J12Rik G T 6: 38,149,705 H1457N probably damaging Het
Dnah9 A G 11: 66,029,363 S2235P probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo10 A T 4: 45,043,883 W647R probably damaging Het
Flnb T A 14: 7,930,919 probably benign Het
Flnc G T 6: 29,440,685 V301L probably damaging Het
Hfm1 T C 5: 106,901,761 S445G probably benign Het
Hif3a A G 7: 17,039,678 probably benign Het
Hsd17b4 T C 18: 50,155,153 Y217H probably damaging Het
Iba57 T C 11: 59,158,946 T192A probably benign Het
Igkv5-48 A T 6: 69,726,687 I78N probably damaging Het
Inhbe A T 10: 127,350,928 W128R probably damaging Het
Ism1 T C 2: 139,757,201 C365R probably damaging Het
Kif19a A T 11: 114,779,644 T127S probably damaging Het
Kmt2d C A 15: 98,857,558 probably benign Het
Mmp20 A G 9: 7,654,041 R321G probably damaging Het
Msl2 T C 9: 101,100,655 M76T possibly damaging Het
Nme9 T C 9: 99,469,631 C223R probably damaging Het
Nucb1 G T 7: 45,495,043 probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1450 T A 19: 12,954,192 I201N possibly damaging Het
Olfr449 A C 6: 42,838,804 I308L probably benign Het
Olfr46 A C 7: 140,610,168 M1L probably benign Het
P4ha1 A G 10: 59,371,002 probably null Het
Parp8 T C 13: 116,862,302 probably benign Het
Pcdhb6 A G 18: 37,335,454 D476G probably damaging Het
Pikfyve A G 1: 65,264,376 E1685G possibly damaging Het
Plod2 T A 9: 92,607,094 L714Q probably damaging Het
Plscr3 C A 11: 69,847,383 probably benign Het
Pmaip1 A G 18: 66,463,299 R80G probably damaging Het
Ppm1d C T 11: 85,339,666 P370L possibly damaging Het
Prr36 C A 8: 4,216,407 E48* probably null Het
Ptgir G A 7: 16,907,484 V234I possibly damaging Het
Ptk7 A T 17: 46,590,144 V219E probably benign Het
Rab39b T A X: 75,575,003 I74F probably damaging Het
Rasal2 A T 1: 157,149,879 M1075K possibly damaging Het
Rpl37a G A 1: 72,711,726 A20T probably null Het
Serpinb10 A C 1: 107,538,425 probably null Het
Sipa1l1 T A 12: 82,425,094 Y1283N probably damaging Het
Slc22a23 T A 13: 34,344,485 I105F possibly damaging Het
Slc25a20 T A 9: 108,682,400 I221N probably damaging Het
Smarcal1 A T 1: 72,620,088 H691L probably damaging Het
Smo A C 6: 29,758,481 T542P probably damaging Het
Spats2 T A 15: 99,173,448 I51N probably damaging Het
Spon1 G T 7: 114,036,662 V704L probably benign Het
St5 C A 7: 109,556,235 R436L possibly damaging Het
Tex9 T A 9: 72,482,492 Q112L probably benign Het
Tgfbr2 T C 9: 116,090,418 E580G probably benign Het
Top2b T A 14: 16,387,335 V141E probably benign Het
Trhde A T 10: 114,800,561 L247* probably null Het
Umodl1 G T 17: 30,998,654 V1145F probably damaging Het
Vasp C A 7: 19,258,823 probably benign Het
Vmn1r8 G T 6: 57,036,571 L202F probably damaging Het
Vmn2r111 T C 17: 22,568,856 T505A probably benign Het
Wdr27 A G 17: 14,892,431 probably benign Het
Wfdc1 T G 8: 119,680,170 V109G probably damaging Het
Zan C A 5: 137,464,794 E708* probably null Het
Zbtb1 T A 12: 76,385,395 F52I possibly damaging Het
Zfp236 A G 18: 82,629,992 S1015P probably damaging Het
Zfp532 T C 18: 65,624,042 S349P probably damaging Het
Znfx1 A T 2: 167,047,630 C731S possibly damaging Het
Other mutations in Plscr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Plscr2 APN 9 92290632 splice site probably benign
R0401:Plscr2 UTSW 9 92282135 missense probably benign
R0620:Plscr2 UTSW 9 92287654 missense probably benign 0.10
R0879:Plscr2 UTSW 9 92287793 missense probably damaging 1.00
R1829:Plscr2 UTSW 9 92290755 missense probably damaging 1.00
R2022:Plscr2 UTSW 9 92295594 missense probably damaging 1.00
R2237:Plscr2 UTSW 9 92290824 missense probably damaging 1.00
R2971:Plscr2 UTSW 9 92290671 nonsense probably null
R3552:Plscr2 UTSW 9 92290795 missense probably damaging 1.00
R3762:Plscr2 UTSW 9 92291080 missense probably damaging 1.00
R4214:Plscr2 UTSW 9 92287737 missense probably benign 0.09
R4528:Plscr2 UTSW 9 92289693 missense possibly damaging 0.87
R4679:Plscr2 UTSW 9 92287770 missense probably benign 0.13
R4708:Plscr2 UTSW 9 92291014 missense probably damaging 1.00
R4709:Plscr2 UTSW 9 92291014 missense probably damaging 1.00
R4831:Plscr2 UTSW 9 92291077 missense possibly damaging 0.89
R5244:Plscr2 UTSW 9 92291049 missense probably benign 0.33
R6102:Plscr2 UTSW 9 92287668 missense probably benign 0.32
R6298:Plscr2 UTSW 9 92290719 missense probably benign 0.05
R6893:Plscr2 UTSW 9 92290704 missense probably benign 0.05
R7320:Plscr2 UTSW 9 92291140 critical splice donor site probably null
R7876:Plscr2 UTSW 9 92287728 missense probably benign
R8220:Plscr2 UTSW 9 92295660 missense probably damaging 1.00
R8340:Plscr2 UTSW 9 92291077 missense probably benign 0.00
Posted On2015-04-16