Incidental Mutation 'IGL02981:Pramel5'
ID406531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel5
Ensembl Gene ENSMUSG00000036749
Gene Namepreferentially expressed antigen in melanoma like 5
SynonymsOTTMUSG00000010540
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL02981
Quality Score
Status
Chromosome4
Chromosomal Location144270633-144280488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 144272860 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 219 (Y219F)
Ref Sequence ENSEMBL: ENSMUSP00000101378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035757] [ENSMUST00000105752]
Predicted Effect probably benign
Transcript: ENSMUST00000035757
AA Change: Y219F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: Y219F

DomainStartEndE-ValueType
SCOP:d1a4ya_ 224 411 1e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105752
AA Change: Y219F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: Y219F

DomainStartEndE-ValueType
SCOP:d1a4ya_ 224 411 1e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144127
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik T C 16: 92,320,869 N177S probably benign Het
Abhd12 A G 2: 150,833,124 S392P probably benign Het
Adam23 G A 1: 63,570,953 V705I probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Ank2 T G 3: 126,934,562 D794A possibly damaging Het
Aqr T C 2: 114,134,824 probably benign Het
Atp9b A G 18: 80,754,289 V857A possibly damaging Het
Banp T C 8: 121,978,564 Y58H possibly damaging Het
Cacna1e T A 1: 154,471,425 N999Y probably benign Het
Cd14 T C 18: 36,726,479 probably benign Het
Crmp1 T C 5: 37,286,426 I447T probably damaging Het
Dip2a A G 10: 76,276,421 V1090A possibly damaging Het
Ep400 T A 5: 110,691,610 probably benign Het
Ep400 T A 5: 110,756,103 H210L possibly damaging Het
Fbxw26 A G 9: 109,744,794 F97L probably benign Het
Fut8 C A 12: 77,475,038 P484T probably damaging Het
Golph3 A G 15: 12,349,464 E190G probably benign Het
Hectd1 A T 12: 51,768,887 D1472E possibly damaging Het
Hnrnpdl T C 5: 100,037,099 I298V possibly damaging Het
Jakmip2 C A 18: 43,562,530 probably null Het
Kcnj5 G A 9: 32,322,581 T146I probably damaging Het
Lyst T G 13: 13,634,911 F389V probably damaging Het
Myo1b A G 1: 51,778,373 S577P probably damaging Het
Myo3b T C 2: 70,108,625 V114A probably damaging Het
Olfr714 C A 7: 107,074,551 T241N probably damaging Het
Pappa2 C T 1: 158,851,144 G901R probably benign Het
Patz1 T C 11: 3,290,656 Y15H probably damaging Het
Pdp2 T C 8: 104,593,635 W39R probably benign Het
Poc5 T C 13: 96,401,757 probably null Het
Pou3f1 A G 4: 124,658,443 D246G probably damaging Het
Prrc2c C T 1: 162,705,179 probably benign Het
Ptpn13 A G 5: 103,528,804 K678E probably damaging Het
Rps2 T C 17: 24,721,724 F271L probably benign Het
Serpina3k C A 12: 104,340,991 Q161K probably benign Het
Serpinb6b A G 13: 32,971,606 T101A probably benign Het
Tprkb T A 6: 85,927,879 D112E probably benign Het
Tubal3 A G 13: 3,933,257 T346A probably benign Het
Vwde A G 6: 13,193,113 F409S possibly damaging Het
Zbtb6 G A 2: 37,429,164 Q251* probably null Het
Other mutations in Pramel5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Pramel5 APN 4 144271621 missense probably damaging 1.00
IGL00990:Pramel5 APN 4 144273979 missense probably damaging 1.00
IGL01070:Pramel5 APN 4 144271272 missense probably damaging 1.00
IGL01298:Pramel5 APN 4 144271162 utr 3 prime probably benign
IGL01653:Pramel5 APN 4 144273859 missense probably benign 0.01
IGL02150:Pramel5 APN 4 144273201 missense possibly damaging 0.93
IGL02278:Pramel5 APN 4 144271551 missense probably damaging 1.00
IGL02671:Pramel5 APN 4 144273112 missense probably benign 0.25
IGL02868:Pramel5 APN 4 144271352 missense probably benign 0.03
R0532:Pramel5 UTSW 4 144272740 missense probably benign 0.03
R0646:Pramel5 UTSW 4 144271620 missense probably damaging 1.00
R1328:Pramel5 UTSW 4 144271488 missense probably damaging 1.00
R1902:Pramel5 UTSW 4 144273863 nonsense probably null
R2027:Pramel5 UTSW 4 144271704 missense probably damaging 1.00
R2240:Pramel5 UTSW 4 144272936 nonsense probably null
R2439:Pramel5 UTSW 4 144273740 missense probably benign 0.01
R3922:Pramel5 UTSW 4 144273052 missense probably damaging 1.00
R4470:Pramel5 UTSW 4 144271345 missense possibly damaging 0.89
R4808:Pramel5 UTSW 4 144272755 missense probably benign 0.04
R4969:Pramel5 UTSW 4 144271617 missense probably damaging 1.00
R5195:Pramel5 UTSW 4 144271741 missense probably benign 0.01
R5198:Pramel5 UTSW 4 144273494 intron probably benign
R5930:Pramel5 UTSW 4 144272983 missense probably benign 0.43
R5988:Pramel5 UTSW 4 144273146 missense possibly damaging 0.46
R6662:Pramel5 UTSW 4 144273105 missense probably benign 0.32
R6988:Pramel5 UTSW 4 144274007 start gained probably benign
R7116:Pramel5 UTSW 4 144273881 missense possibly damaging 0.94
R7638:Pramel5 UTSW 4 144271440 missense possibly damaging 0.93
R8247:Pramel5 UTSW 4 144272825 missense probably damaging 1.00
X0028:Pramel5 UTSW 4 144272836 missense probably benign 0.00
Z1176:Pramel5 UTSW 4 144273860 missense probably benign 0.00
Posted On2016-08-02