Incidental Mutation 'R8489:Pramel52-ps'
ID 657878
Institutional Source Beutler Lab
Gene Symbol Pramel52-ps
Ensembl Gene ENSMUSG00000073497
Gene Name PRAME like 52, pseudogene
Synonyms AA792892
MMRRC Submission 067932-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 94487609-94532938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94531551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 145 (L145P)
Ref Sequence ENSEMBL: ENSMUSP00000143886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097477] [ENSMUST00000202253]
AlphaFold Q8C6S1
Predicted Effect probably damaging
Transcript: ENSMUST00000097477
AA Change: L145P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095085
Gene: ENSMUSG00000073497
AA Change: L145P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 88 276 5e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202253
AA Change: L145P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143886
Gene: ENSMUSG00000073497
AA Change: L145P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 88 276 5e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI661453 C A 17: 47,777,254 (GRCm39) probably benign Het
Apc2 T G 10: 80,143,298 (GRCm39) L466R probably damaging Het
Baz1b C A 5: 135,245,709 (GRCm39) P386H probably damaging Het
Ccdc149 T C 5: 52,533,999 (GRCm39) D389G probably benign Het
Cit T A 5: 116,083,962 (GRCm39) probably null Het
Cmas C A 6: 142,702,596 (GRCm39) A33E probably benign Het
Dcaf7 A G 11: 105,942,743 (GRCm39) N230S probably damaging Het
Dcun1d5 C A 9: 7,206,837 (GRCm39) probably benign Het
Dennd5b T A 6: 148,986,389 (GRCm39) D58V probably benign Het
Dmrt2 C A 19: 25,655,831 (GRCm39) Q477K probably damaging Het
Eva1c A G 16: 90,672,999 (GRCm39) N90S probably damaging Het
Fcgbp A T 7: 27,804,435 (GRCm39) I1848F possibly damaging Het
Fgfr2 T G 7: 129,769,534 (GRCm39) M522L probably benign Het
Fshr C A 17: 89,293,795 (GRCm39) K294N probably benign Het
Gja10 T C 4: 32,601,866 (GRCm39) I173V probably benign Het
Gmnn A G 13: 24,941,614 (GRCm39) S32P probably damaging Het
Hdac9 T C 12: 34,487,180 (GRCm39) N95D probably damaging Het
Ipo13 T C 4: 117,758,219 (GRCm39) T715A probably damaging Het
Klrc2 A G 6: 129,635,787 (GRCm39) S97P probably benign Het
Lrrn4 G A 2: 132,721,364 (GRCm39) S151L probably benign Het
Man2a1 G T 17: 64,908,765 (GRCm39) S12I possibly damaging Het
Mplkipl1 T C 19: 61,164,085 (GRCm39) T117A probably damaging Het
Mrgprb8 T A 7: 48,038,701 (GRCm39) V124E possibly damaging Het
Myo5c T C 9: 75,180,128 (GRCm39) W690R probably damaging Het
Ncapd2 T C 6: 125,150,745 (GRCm39) K817E probably damaging Het
Or51k2 T C 7: 103,596,328 (GRCm39) I185T probably damaging Het
Or5h27 A G 16: 59,006,400 (GRCm39) *149Q probably null Het
Or5p60 T A 7: 107,724,372 (GRCm39) I33F probably benign Het
Or8b50 T C 9: 38,518,232 (GRCm39) M157T probably benign Het
Pcdh18 A T 3: 49,709,038 (GRCm39) I759N probably damaging Het
Pcdhac2 A T 18: 37,278,207 (GRCm39) N396Y probably damaging Het
Pcm1 T A 8: 41,766,437 (GRCm39) C1542S probably benign Het
Pcsk1 T A 13: 75,274,121 (GRCm39) V450E probably damaging Het
Pld2 A G 11: 70,445,121 (GRCm39) K574E probably damaging Het
Psmc1 C T 12: 100,089,356 (GRCm39) R410C probably benign Het
Rad51b C T 12: 79,374,024 (GRCm39) S201L probably benign Het
Rgs3 T A 4: 62,544,733 (GRCm39) L200Q probably damaging Het
Rims2 A G 15: 39,479,846 (GRCm39) M1293V probably damaging Het
Scin C T 12: 40,131,019 (GRCm39) G298D probably damaging Het
Scn8a C A 15: 100,867,014 (GRCm39) F123L probably damaging Het
Snapc3 G A 4: 83,369,531 (GRCm39) C353Y probably damaging Het
Sned1 C A 1: 93,210,978 (GRCm39) S231* probably null Het
Tex15 A G 8: 34,067,574 (GRCm39) T2335A probably benign Het
Tigd4 G A 3: 84,502,526 (GRCm39) G481D probably benign Het
Trank1 T G 9: 111,219,343 (GRCm39) F2027V probably benign Het
Ubr1 C T 2: 120,711,548 (GRCm39) A1449T probably benign Het
Ulk1 G T 5: 110,947,002 (GRCm39) Y89* probably null Het
Usp54 A G 14: 20,611,604 (GRCm39) F1071L probably benign Het
Utrn C T 10: 12,587,190 (GRCm39) E949K probably benign Het
Vmn2r65 T A 7: 84,589,964 (GRCm39) T651S possibly damaging Het
Wdfy1 A G 1: 79,739,368 (GRCm39) L17P probably damaging Het
Zfp672 G A 11: 58,220,681 (GRCm39) probably benign 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
R6585:Pramel52-ps UTSW 5 94,529,415 (GRCm39) missense probably benign
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
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'- ATCCCTAGGTGCCTGATGACTC -3'
(R):5'- ATTATAGCACTGCAGAGGGGC -3'

Sequencing Primer
(F):5'- GTGCCTGATGACTCCCTTCGAG -3'
(R):5'- GGCAGGGCATTGTTCCACATTC -3'
Posted On 2021-01-18