Incidental Mutation 'R4440:Pramef20'
ID329713
Institutional Source Beutler Lab
Gene Symbol Pramef20
Ensembl Gene ENSMUSG00000073721
Gene NamePRAME family member 20
SynonymsGm13125, EG627009
MMRRC Submission 041705-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4440 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location144372760-144377933 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 144372867 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 443 (F443I)
Ref Sequence ENSEMBL: ENSMUSP00000112488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121109]
Predicted Effect probably benign
Transcript: ENSMUST00000121109
AA Change: F443I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112488
Gene: ENSMUSG00000073721
AA Change: F443I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 409 1e-11 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (46/49)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp G T 2: 168,184,801 H191Q possibly damaging Het
Afdn T C 17: 13,850,890 W782R probably damaging Het
Alpl A T 4: 137,747,813 W270R probably damaging Het
Angpt4 G T 2: 151,944,646 G508C probably damaging Het
Armc8 T A 9: 99,484,034 H609L probably benign Het
Atg2a T C 19: 6,255,829 probably null Het
Bicdl2 C T 17: 23,667,616 A393V probably benign Het
C6 A T 15: 4,735,251 K143M possibly damaging Het
Cfc1 T A 1: 34,544,102 probably benign Het
Ctnna3 A G 10: 64,260,935 I417M probably benign Het
Dnhd1 G A 7: 105,696,728 W2307* probably null Het
Dpysl5 T C 5: 30,792,268 F461L probably damaging Het
Elmsan1 C T 12: 84,156,471 G886S probably benign Het
Fip1l1 T C 5: 74,536,785 probably benign Het
Fpgs C T 2: 32,687,501 C219Y probably damaging Het
Fsip2 A G 2: 82,991,206 D5761G possibly damaging Het
Hdac4 C A 1: 91,945,995 G957C probably damaging Het
Klhl8 A G 5: 103,867,567 I421T probably benign Het
Kntc1 T C 5: 123,794,153 C1337R probably damaging Het
Lpin3 A G 2: 160,898,645 N370S probably benign Het
Man2a2 C A 7: 80,351,715 R1148L probably benign Het
Nav2 C T 7: 49,552,037 T1453I possibly damaging Het
Nav2 A G 7: 49,575,263 probably benign Het
Ndufaf5 T A 2: 140,170,725 V5D probably benign Het
Nipbl G C 15: 8,366,658 Q144E probably damaging Het
Ntrk2 G C 13: 59,060,312 Q657H probably damaging Het
Olfr1212 G A 2: 88,959,341 E292K probably benign Het
Olfr1248 G T 2: 89,618,168 T8K probably damaging Het
Polr1a A G 6: 71,950,848 D861G probably damaging Het
Pwwp2b T C 7: 139,255,639 I332T probably benign Het
Rasgrf2 T C 13: 91,983,678 D620G possibly damaging Het
Slc14a2 A G 18: 78,195,747 V219A probably benign Het
Slc7a2 T C 8: 40,902,649 I245T probably benign Het
Smok3c T A 5: 138,064,604 Y118N possibly damaging Het
Taok2 C T 7: 126,866,521 R367Q possibly damaging Het
Tbl1xr1 A G 3: 22,200,588 probably null Het
Tbr1 A T 2: 61,804,838 D44V possibly damaging Het
Tespa1 C T 10: 130,361,957 R283C probably damaging Het
Tle2 A G 10: 81,581,682 E227G possibly damaging Het
Vmn1r231 T C 17: 20,890,456 R66G possibly damaging Het
Xab2 T C 8: 3,616,353 E185G probably benign Het
Other mutations in Pramef20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Pramef20 APN 4 144377133 missense probably benign 0.01
IGL01516:Pramef20 APN 4 144377767 missense probably damaging 1.00
IGL02655:Pramef20 APN 4 144372846 missense probably benign 0.05
IGL02983:Pramef20 APN 4 144373127 missense probably benign 0.24
R0201:Pramef20 UTSW 4 144377273 splice site probably benign
R1882:Pramef20 UTSW 4 144376915 missense probably benign 0.03
R4805:Pramef20 UTSW 4 144377020 missense probably benign 0.08
R4823:Pramef20 UTSW 4 144373211 missense possibly damaging 0.81
R4925:Pramef20 UTSW 4 144377932 start codon destroyed probably null 1.00
R5024:Pramef20 UTSW 4 144373308 nonsense probably null
R5472:Pramef20 UTSW 4 144377157 missense probably benign 0.00
R6133:Pramef20 UTSW 4 144377777 missense possibly damaging 0.81
R6495:Pramef20 UTSW 4 144376839 missense probably benign 0.43
R6585:Pramef20 UTSW 4 144377030 missense possibly damaging 0.87
R6732:Pramef20 UTSW 4 144373173 missense probably benign 0.20
R7048:Pramef20 UTSW 4 144377184 missense probably benign 0.15
R7165:Pramef20 UTSW 4 144372819 missense probably damaging 0.97
R7469:Pramef20 UTSW 4 144373103 missense probably damaging 1.00
Predicted Primers
Posted On2015-07-21