Incidental Mutation 'R2927:Pramel1'
ID 255793
Institutional Source Beutler Lab
Gene Symbol Pramel1
Ensembl Gene ENSMUSG00000041805
Gene Name PRAME like 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2927 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143120998-143126730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143125388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 437 (D437E)
Ref Sequence ENSEMBL: ENSMUSP00000043718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037419]
AlphaFold Q99MW3
Predicted Effect probably benign
Transcript: ENSMUST00000037419
AA Change: D437E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: D437E

DomainStartEndE-ValueType
SCOP:d1a4ya_ 203 396 1e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119019
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Dsc2 T C 18: 20,178,558 (GRCm39) Y282C probably damaging Het
Dsg1b C A 18: 20,538,308 (GRCm39) P638Q probably benign Het
Eea1 C T 10: 95,849,220 (GRCm39) S486L probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ift22 A G 5: 136,941,799 (GRCm39) D147G probably damaging Het
Igsf10 T A 3: 59,236,848 (GRCm39) Q1111L probably benign Het
Ikzf1 T C 11: 11,719,324 (GRCm39) Y344H probably damaging Het
Kif1c T A 11: 70,617,140 (GRCm39) C813S probably benign Het
Krt16 A G 11: 100,139,625 (GRCm39) L31P unknown Het
Lrrc49 G A 9: 60,501,029 (GRCm39) R633* probably null Het
Mllt6 T A 11: 97,571,602 (GRCm39) F1080I probably damaging Het
Or52ae7 A G 7: 103,120,089 (GRCm39) Y281C probably damaging Het
Plxnc1 T G 10: 94,629,154 (GRCm39) probably null Het
Ppp4r2 T C 6: 100,838,426 (GRCm39) Y115H probably damaging Het
Pstpip2 C A 18: 77,949,589 (GRCm39) Q133K probably damaging Het
Ptgs2 A T 1: 149,977,011 (GRCm39) T41S possibly damaging Het
Slc36a1 G A 11: 55,123,201 (GRCm39) A389T probably damaging Het
Vav2 A G 2: 27,316,403 (GRCm39) V30A probably damaging Het
Vmn1r119 C T 7: 20,746,056 (GRCm39) V109I probably benign Het
Other mutations in Pramel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Pramel1 APN 4 143,124,126 (GRCm39) missense probably damaging 1.00
IGL01363:Pramel1 APN 4 143,123,955 (GRCm39) missense probably benign 0.00
IGL01713:Pramel1 APN 4 143,123,652 (GRCm39) missense probably benign 0.01
IGL02334:Pramel1 APN 4 143,124,096 (GRCm39) missense probably damaging 0.98
IGL02957:Pramel1 APN 4 143,124,168 (GRCm39) missense probably benign 0.22
P0045:Pramel1 UTSW 4 143,125,092 (GRCm39) nonsense probably null
PIT4431001:Pramel1 UTSW 4 143,124,960 (GRCm39) missense possibly damaging 0.61
R0136:Pramel1 UTSW 4 143,124,016 (GRCm39) missense probably damaging 1.00
R0544:Pramel1 UTSW 4 143,124,175 (GRCm39) missense possibly damaging 0.94
R0612:Pramel1 UTSW 4 143,124,101 (GRCm39) missense probably damaging 0.99
R1700:Pramel1 UTSW 4 143,124,999 (GRCm39) missense probably damaging 1.00
R2425:Pramel1 UTSW 4 143,125,036 (GRCm39) missense probably damaging 1.00
R4012:Pramel1 UTSW 4 143,123,260 (GRCm39) missense possibly damaging 0.48
R5253:Pramel1 UTSW 4 143,125,156 (GRCm39) missense probably benign 0.03
R5388:Pramel1 UTSW 4 143,123,954 (GRCm39) missense probably benign 0.00
R6457:Pramel1 UTSW 4 143,123,275 (GRCm39) missense probably damaging 1.00
R7052:Pramel1 UTSW 4 143,123,074 (GRCm39) missense probably damaging 1.00
R7543:Pramel1 UTSW 4 143,124,993 (GRCm39) missense probably damaging 0.99
R7964:Pramel1 UTSW 4 143,123,810 (GRCm39) missense probably benign 0.03
R8532:Pramel1 UTSW 4 143,125,125 (GRCm39) missense probably benign 0.04
R8977:Pramel1 UTSW 4 143,123,961 (GRCm39) missense probably benign 0.08
R9264:Pramel1 UTSW 4 143,125,099 (GRCm39) missense probably damaging 1.00
R9284:Pramel1 UTSW 4 143,123,769 (GRCm39) missense probably benign 0.43
R9466:Pramel1 UTSW 4 143,123,799 (GRCm39) missense probably benign 0.10
R9769:Pramel1 UTSW 4 143,125,110 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- GACTCTCAACTCAGTGCCATC -3'
(R):5'- GTTGTGCATACTCTGACCAGAC -3'

Sequencing Primer
(F):5'- CTGCTCTGAGATGCTGTACACAG -3'
(R):5'- TGTGCATACTCTGACCAGACACATC -3'
Posted On 2014-12-29