Incidental Mutation 'R6585:Pramel52-ps'
ID 524331
Institutional Source Beutler Lab
Gene Symbol Pramel52-ps
Ensembl Gene ENSMUSG00000073497
Gene Name PRAME like 52, pseudogene
Synonyms AA792892
MMRRC Submission 044709-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6585 (G1)
Quality Score 85.0076
Status Not validated
Chromosome 5
Chromosomal Location 94487609-94532938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94529415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 62 (P62S)
Ref Sequence ENSEMBL: ENSMUSP00000143886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097477] [ENSMUST00000202253]
AlphaFold Q8C6S1
Predicted Effect probably benign
Transcript: ENSMUST00000097477
AA Change: P62S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095085
Gene: ENSMUSG00000073497
AA Change: P62S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 88 276 5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202253
AA Change: P62S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143886
Gene: ENSMUSG00000073497
AA Change: P62S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 88 276 5e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,885,534 (GRCm39) C108Y probably damaging Het
Adam1b G T 5: 121,639,250 (GRCm39) D598E probably benign Het
Agr2 G A 12: 36,045,625 (GRCm39) R37Q probably benign Het
Ascc3 A G 10: 50,718,273 (GRCm39) K1989E probably benign Het
Chd1l A G 3: 97,505,088 (GRCm39) F160L probably damaging Het
Ciita T A 16: 10,329,609 (GRCm39) V628E probably benign Het
Defa38 A G 8: 21,585,248 (GRCm39) C65R possibly damaging Het
Dis3l2 T A 1: 86,673,216 (GRCm39) I69N probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Elp2 T C 18: 24,758,606 (GRCm39) L503S probably damaging Het
Fcgbp A T 7: 27,813,404 (GRCm39) Q2313L possibly damaging Het
Gpr155 A T 2: 73,179,989 (GRCm39) I157N probably damaging Het
H2bc18 A T 3: 96,177,413 (GRCm39) T116S probably benign Het
Kcnj1 T C 9: 32,308,557 (GRCm39) V307A probably benign Het
Lama3 G A 18: 12,552,314 (GRCm39) probably null Het
Lrp6 A T 6: 134,484,521 (GRCm39) Y367* probably null Het
Ms4a14 T A 19: 11,281,009 (GRCm39) Q516H unknown Het
Nprl3 C T 11: 32,184,812 (GRCm39) R399Q probably benign Het
Or13c3 A T 4: 52,856,192 (GRCm39) M107K possibly damaging Het
Or5ae1 A T 7: 84,565,670 (GRCm39) I228F probably damaging Het
Park7 G T 4: 150,989,721 (GRCm39) Q80K probably benign Het
Pramel15 C A 4: 144,103,600 (GRCm39) L175F possibly damaging Het
Ptgs2 T C 1: 149,979,738 (GRCm39) V281A possibly damaging Het
Rprd1a T C 18: 24,639,720 (GRCm39) probably null Het
Speer4f2 A G 5: 17,579,420 (GRCm39) E73G probably damaging Het
Spta1 T C 1: 174,006,251 (GRCm39) W138R probably damaging Het
U2surp T C 9: 95,354,124 (GRCm39) E838G probably damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Usp19 G T 9: 108,376,926 (GRCm39) L1165F probably damaging Het
Zfp27 G A 7: 29,595,818 (GRCm39) T49I possibly damaging Het
Other mutations in Pramel52-ps
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1985:Pramel52-ps UTSW 5 94,531,931 (GRCm39) missense probably benign 0.13
R4247:Pramel52-ps UTSW 5 94,531,446 (GRCm39) missense possibly damaging 0.93
R4607:Pramel52-ps UTSW 5 94,531,387 (GRCm39) missense probably benign 0.35
R6186:Pramel52-ps UTSW 5 94,531,835 (GRCm39) missense probably benign 0.28
R6755:Pramel52-ps UTSW 5 94,529,268 (GRCm39) missense probably benign 0.03
R6945:Pramel52-ps UTSW 5 94,531,490 (GRCm39) missense possibly damaging 0.57
R7352:Pramel52-ps UTSW 5 94,531,743 (GRCm39) missense probably damaging 1.00
R7960:Pramel52-ps UTSW 5 94,531,739 (GRCm39) missense probably benign 0.01
R8355:Pramel52-ps UTSW 5 94,531,772 (GRCm39) missense probably damaging 1.00
R8356:Pramel52-ps UTSW 5 94,531,703 (GRCm39) missense probably damaging 0.99
R8381:Pramel52-ps UTSW 5 94,531,881 (GRCm39) missense probably damaging 1.00
R8489:Pramel52-ps UTSW 5 94,531,551 (GRCm39) missense probably damaging 1.00
R8752:Pramel52-ps UTSW 5 94,529,354 (GRCm39) missense possibly damaging 0.63
R9101:Pramel52-ps UTSW 5 94,531,899 (GRCm39) missense probably damaging 1.00
R9577:Pramel52-ps UTSW 5 94,531,805 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTAACTGCTTCCCCAGGAG -3'
(R):5'- GCATCTGAACCATTTAGTACAAAGCC -3'

Sequencing Primer
(F):5'- TTCTTACTGAAGACCTGAGAGGATG -3'
(R):5'- TTTAGTACAAAGCCAATCTCCCTGG -3'
Posted On 2018-06-22