Incidental Mutation 'R4360:Pramel16'
ID 324847
Institutional Source Beutler Lab
Gene Symbol Pramel16
Ensembl Gene ENSMUSG00000078511
Gene Name PRAME like 16
Synonyms Pramef25, Gm13109
MMRRC Submission 041111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4360 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143675150-143677586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143677433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 49 (F49L)
Ref Sequence ENSEMBL: ENSMUSP00000101392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105766]
AlphaFold A2ASI9
Predicted Effect possibly damaging
Transcript: ENSMUST00000105766
AA Change: F49L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: F49L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 427 2e-10 SMART
Meta Mutation Damage Score 0.3366 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik T C 14: 67,175,850 (GRCm39) noncoding transcript Het
Adgra3 T C 5: 50,147,552 (GRCm39) E496G possibly damaging Het
Atg14 C G 14: 47,805,827 (GRCm39) E13Q probably benign Het
BC023105 G T 18: 60,575,073 (GRCm39) noncoding transcript Het
Chd6 A G 2: 160,791,776 (GRCm39) V2527A possibly damaging Het
Csn1s2a G T 5: 87,929,700 (GRCm39) V100L possibly damaging Het
Fah G A 7: 84,238,856 (GRCm39) L330F probably damaging Het
Fmo2 T C 1: 162,709,583 (GRCm39) N268S probably damaging Het
Foxg1 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 12: 49,431,475 (GRCm39) probably benign Het
Frmd4a A T 2: 4,606,052 (GRCm39) H287L probably damaging Het
G2e3 T A 12: 51,410,197 (GRCm39) probably benign Het
Gm1758 A T 16: 14,324,215 (GRCm39) noncoding transcript Het
Gm7204 T C 16: 48,039,196 (GRCm39) noncoding transcript Het
Gm829 T C 4: 45,718,819 (GRCm39) noncoding transcript Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Islr T A 9: 58,064,887 (GRCm39) N207Y probably damaging Het
Lipc T C 9: 70,759,864 (GRCm39) probably benign Het
Ncor2 A G 5: 125,106,036 (GRCm39) S1546P probably damaging Het
Or13a25 T C 7: 140,247,730 (GRCm39) F170L probably damaging Het
Or56a3 A C 7: 104,735,460 (GRCm39) E179A probably damaging Het
Or7g18 G A 9: 18,787,013 (GRCm39) C127Y probably damaging Het
Parp4 A G 14: 56,866,661 (GRCm39) D1075G possibly damaging Het
Pkp2 A G 16: 16,086,546 (GRCm39) I736V probably benign Het
Plekha8 T C 6: 54,599,171 (GRCm39) I235T probably benign Het
Polq A G 16: 36,880,701 (GRCm39) D955G probably benign Het
Psmd1 A G 1: 86,061,459 (GRCm39) K890E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scpep1 A G 11: 88,821,070 (GRCm39) Y366H possibly damaging Het
Slc18a3 A G 14: 32,185,882 (GRCm39) V167A probably benign Het
Sp8 A G 12: 118,812,400 (GRCm39) D85G possibly damaging Het
Stard3nl G A 13: 19,554,654 (GRCm39) S144L probably damaging Het
Stk4 A G 2: 163,930,879 (GRCm39) E160G possibly damaging Het
Tbcb T C 7: 29,926,460 (GRCm39) N119S probably benign Het
Tnc G T 4: 63,935,161 (GRCm39) R592S probably benign Het
Trem3 T A 17: 48,556,801 (GRCm39) S91T probably benign Het
Trpc6 A G 9: 8,610,267 (GRCm39) E245G probably benign Het
Usp40 C T 1: 87,880,083 (GRCm39) R1036H probably damaging Het
Usp47 G T 7: 111,654,139 (GRCm39) G112C probably damaging Het
Wdr35 T C 12: 9,024,149 (GRCm39) probably benign Het
Zc3h14 A G 12: 98,746,456 (GRCm39) K555R probably benign Het
Zfp26 T C 9: 20,349,869 (GRCm39) S232G probably benign Het
Zfp811 T C 17: 33,017,432 (GRCm39) T202A probably benign Het
Other mutations in Pramel16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Pramel16 APN 4 143,676,784 (GRCm39) splice site probably benign
IGL01562:Pramel16 APN 4 143,677,435 (GRCm39) missense probably damaging 1.00
IGL02422:Pramel16 APN 4 143,676,453 (GRCm39) missense probably benign 0.25
IGL02632:Pramel16 APN 4 143,676,507 (GRCm39) missense possibly damaging 0.84
IGL02745:Pramel16 APN 4 143,677,294 (GRCm39) missense probably damaging 1.00
IGL02808:Pramel16 APN 4 143,677,585 (GRCm39) utr 5 prime probably benign
IGL02883:Pramel16 APN 4 143,676,418 (GRCm39) missense possibly damaging 0.64
IGL02961:Pramel16 APN 4 143,675,717 (GRCm39) missense probably damaging 1.00
IGL03092:Pramel16 APN 4 143,676,767 (GRCm39) missense probably damaging 0.97
FR4340:Pramel16 UTSW 4 143,676,312 (GRCm39) missense probably damaging 0.99
FR4342:Pramel16 UTSW 4 143,676,327 (GRCm39) frame shift probably null
FR4342:Pramel16 UTSW 4 143,676,312 (GRCm39) missense probably damaging 0.99
R0533:Pramel16 UTSW 4 143,677,290 (GRCm39) missense possibly damaging 0.85
R0606:Pramel16 UTSW 4 143,676,453 (GRCm39) missense probably benign 0.25
R1624:Pramel16 UTSW 4 143,676,400 (GRCm39) missense possibly damaging 0.47
R1898:Pramel16 UTSW 4 143,677,298 (GRCm39) missense probably damaging 1.00
R2029:Pramel16 UTSW 4 143,676,453 (GRCm39) missense probably benign 0.25
R2867:Pramel16 UTSW 4 143,675,456 (GRCm39) missense probably benign 0.00
R2867:Pramel16 UTSW 4 143,675,456 (GRCm39) missense probably benign 0.00
R2894:Pramel16 UTSW 4 143,675,692 (GRCm39) missense probably damaging 1.00
R4111:Pramel16 UTSW 4 143,676,475 (GRCm39) missense possibly damaging 0.93
R4298:Pramel16 UTSW 4 143,675,713 (GRCm39) nonsense probably null
R4361:Pramel16 UTSW 4 143,677,433 (GRCm39) missense possibly damaging 0.81
R5137:Pramel16 UTSW 4 143,675,690 (GRCm39) missense probably benign 0.08
R5195:Pramel16 UTSW 4 143,677,450 (GRCm39) missense probably damaging 0.99
R5312:Pramel16 UTSW 4 143,675,665 (GRCm39) missense possibly damaging 0.96
R5548:Pramel16 UTSW 4 143,676,550 (GRCm39) missense probably benign 0.24
R5591:Pramel16 UTSW 4 143,675,377 (GRCm39) missense probably damaging 1.00
R5644:Pramel16 UTSW 4 143,675,374 (GRCm39) missense probably benign 0.01
R6018:Pramel16 UTSW 4 143,677,469 (GRCm39) missense possibly damaging 0.61
R6177:Pramel16 UTSW 4 143,675,576 (GRCm39) missense possibly damaging 0.51
R6335:Pramel16 UTSW 4 143,675,602 (GRCm39) missense probably benign 0.02
R6376:Pramel16 UTSW 4 143,677,267 (GRCm39) missense probably benign 0.03
R6572:Pramel16 UTSW 4 143,676,262 (GRCm39) missense probably benign 0.01
R6845:Pramel16 UTSW 4 143,676,394 (GRCm39) missense probably benign
R6939:Pramel16 UTSW 4 143,675,366 (GRCm39) missense probably benign 0.09
R7081:Pramel16 UTSW 4 143,675,848 (GRCm39) missense probably damaging 1.00
R7505:Pramel16 UTSW 4 143,676,273 (GRCm39) missense possibly damaging 0.94
R7711:Pramel16 UTSW 4 143,675,822 (GRCm39) missense probably benign 0.22
R8284:Pramel16 UTSW 4 143,676,695 (GRCm39) missense possibly damaging 0.95
R8297:Pramel16 UTSW 4 143,675,690 (GRCm39) missense probably benign 0.08
R8299:Pramel16 UTSW 4 143,677,327 (GRCm39) missense probably benign 0.24
R8700:Pramel16 UTSW 4 143,675,701 (GRCm39) missense possibly damaging 0.51
R9179:Pramel16 UTSW 4 143,676,294 (GRCm39) missense probably benign 0.01
R9199:Pramel16 UTSW 4 143,675,656 (GRCm39) missense probably damaging 1.00
R9214:Pramel16 UTSW 4 143,675,750 (GRCm39) missense probably benign 0.00
R9411:Pramel16 UTSW 4 143,676,215 (GRCm39) missense probably damaging 1.00
RF011:Pramel16 UTSW 4 143,675,478 (GRCm39) missense probably damaging 0.96
RF013:Pramel16 UTSW 4 143,675,478 (GRCm39) missense probably damaging 0.96
RF021:Pramel16 UTSW 4 143,675,478 (GRCm39) missense probably damaging 0.96
Z1176:Pramel16 UTSW 4 143,676,693 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CTTGGGTGAAAATTTCCTGTCAGC -3'
(R):5'- TCTGGCACTTTGATGGTTCC -3'

Sequencing Primer
(F):5'- GAAAATTTCCTGTCAGCTGCATGTC -3'
(R):5'- GTTCCTTTGATGCAGGCATTTAAAG -3'
Posted On 2015-07-06