Incidental Mutation 'R5957:Pramel19'
ID 471216
Institutional Source Beutler Lab
Gene Symbol Pramel19
Ensembl Gene ENSMUSG00000070890
Gene Name PRAME like 19
Synonyms Gm12794
MMRRC Submission 043246-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R5957 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 101797604-101800380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101798898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 290 (F290L)
Ref Sequence ENSEMBL: ENSMUSP00000051550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052027]
AlphaFold L7MTS5
Predicted Effect probably benign
Transcript: ENSMUST00000052027
AA Change: F290L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: F290L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 257 409 9e-11 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,922 (GRCm39) T1704A probably benign Het
Adgrg7 T A 16: 56,593,790 (GRCm39) N142I probably damaging Het
Aldh18a1 A T 19: 40,558,981 (GRCm39) Y286* probably null Het
Arpp21 T C 9: 112,014,754 (GRCm39) T17A probably benign Het
Bnip2 T C 9: 69,906,520 (GRCm39) I147T probably damaging Het
Ccr8 T C 9: 119,922,893 (GRCm39) Y3H probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cul7 G A 17: 46,968,683 (GRCm39) G553S probably damaging Het
Cyp21a1 A G 17: 35,022,150 (GRCm39) I206T probably benign Het
Dennd4b A G 3: 90,178,272 (GRCm39) D488G probably damaging Het
Dip2b T C 15: 100,107,575 (GRCm39) L1195P probably benign Het
Dmac2l T C 12: 69,790,558 (GRCm39) V185A probably benign Het
Dock5 T A 14: 68,095,443 (GRCm39) H77L probably benign Het
Fbxw13 C T 9: 109,021,734 (GRCm39) probably null Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gbf1 G T 19: 46,234,660 (GRCm39) probably null Het
Gm4846 T C 1: 166,314,522 (GRCm39) I374V probably benign Het
Gsk3b C A 16: 38,014,315 (GRCm39) P258T probably damaging Het
Igsf5 T C 16: 96,165,249 (GRCm39) V8A probably benign Het
Il22 T A 10: 118,041,071 (GRCm39) L59Q probably damaging Het
Ildr1 T C 16: 36,545,896 (GRCm39) *517Q probably null Het
Iqca1 T A 1: 90,008,670 (GRCm39) D450V probably damaging Het
Itga5 T C 15: 103,259,856 (GRCm39) D647G probably benign Het
Myh7 T G 14: 55,226,535 (GRCm39) N408T probably damaging Het
Mylk3 T C 8: 86,055,266 (GRCm39) M564V probably damaging Het
Nsd2 T A 5: 34,012,947 (GRCm39) M407K probably damaging Het
Odad2 T C 18: 7,285,706 (GRCm39) E219G probably benign Het
Oprd1 C T 4: 131,871,474 (GRCm39) V75I probably benign Het
Poli G A 18: 70,650,511 (GRCm39) H310Y probably benign Het
Ptch1 C T 13: 63,672,929 (GRCm39) R755H probably damaging Het
Pygl A T 12: 70,246,494 (GRCm39) M351K probably damaging Het
Serpinb9b T C 13: 33,223,831 (GRCm39) L341P possibly damaging Het
Slc47a1 A G 11: 61,235,168 (GRCm39) V555A probably benign Het
Slc8a2 C A 7: 15,879,209 (GRCm39) T565K possibly damaging Het
Snx14 T C 9: 88,285,327 (GRCm39) I446V possibly damaging Het
Syde1 T C 10: 78,425,951 (GRCm39) Y72C probably damaging Het
Trim37 C T 11: 87,036,377 (GRCm39) R138C probably damaging Het
Tubgcp5 T A 7: 55,464,710 (GRCm39) S530R probably benign Het
Vps13c T C 9: 67,862,253 (GRCm39) S2957P probably damaging Het
Wdr41 T C 13: 95,133,695 (GRCm39) probably null Het
Zyg11b T C 4: 108,102,210 (GRCm39) K504E probably damaging Het
Other mutations in Pramel19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Pramel19 APN 4 101,798,898 (GRCm39) missense probably benign 0.02
IGL01360:Pramel19 APN 4 101,797,665 (GRCm39) missense possibly damaging 0.94
IGL01837:Pramel19 APN 4 101,798,650 (GRCm39) missense probably damaging 1.00
IGL01870:Pramel19 APN 4 101,797,887 (GRCm39) missense probably benign 0.03
IGL02040:Pramel19 APN 4 101,798,331 (GRCm39) missense possibly damaging 0.94
IGL03264:Pramel19 APN 4 101,798,329 (GRCm39) missense probably damaging 0.99
R0033:Pramel19 UTSW 4 101,798,881 (GRCm39) missense probably benign
R0334:Pramel19 UTSW 4 101,798,781 (GRCm39) missense probably benign 0.01
R0846:Pramel19 UTSW 4 101,798,447 (GRCm39) missense probably benign 0.00
R1464:Pramel19 UTSW 4 101,798,503 (GRCm39) missense probably damaging 0.97
R1464:Pramel19 UTSW 4 101,798,503 (GRCm39) missense probably damaging 0.97
R1774:Pramel19 UTSW 4 101,797,655 (GRCm39) missense probably benign 0.27
R1888:Pramel19 UTSW 4 101,798,335 (GRCm39) missense probably damaging 0.99
R1888:Pramel19 UTSW 4 101,798,335 (GRCm39) missense probably damaging 0.99
R4510:Pramel19 UTSW 4 101,798,757 (GRCm39) missense probably benign 0.00
R4511:Pramel19 UTSW 4 101,798,757 (GRCm39) missense probably benign 0.00
R4890:Pramel19 UTSW 4 101,798,788 (GRCm39) missense probably damaging 0.99
R4960:Pramel19 UTSW 4 101,798,661 (GRCm39) missense probably benign
R5043:Pramel19 UTSW 4 101,797,721 (GRCm39) missense possibly damaging 0.89
R5297:Pramel19 UTSW 4 101,798,348 (GRCm39) missense possibly damaging 0.46
R5780:Pramel19 UTSW 4 101,798,724 (GRCm39) missense probably damaging 1.00
R6409:Pramel19 UTSW 4 101,797,874 (GRCm39) nonsense probably null
R6452:Pramel19 UTSW 4 101,798,640 (GRCm39) missense probably benign 0.02
R7619:Pramel19 UTSW 4 101,798,497 (GRCm39) missense probably benign 0.01
R8460:Pramel19 UTSW 4 101,798,424 (GRCm39) missense probably benign 0.00
R9202:Pramel19 UTSW 4 101,797,860 (GRCm39) missense probably damaging 0.98
Z1177:Pramel19 UTSW 4 101,798,322 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCTTTGGCCAGATGAGAAATC -3'
(R):5'- ATATCCCCTACCCCAGTTCAGG -3'

Sequencing Primer
(F):5'- AGAGGTGCTGCCAAATTC -3'
(R):5'- CCCAGTTCAGGCTCTATTAAAAGAG -3'
Posted On 2017-03-31