Incidental Mutation 'R4927:Pramel27'
ID 380895
Institutional Source Beutler Lab
Gene Symbol Pramel27
Ensembl Gene ENSMUSG00000029451
Gene Name PRAME like 27
Synonyms Gm13103
MMRRC Submission 042528-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R4927 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143573067-143580207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143578187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 149 (Q149L)
Ref Sequence ENSEMBL: ENSMUSP00000092099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094522] [ENSMUST00000105768] [ENSMUST00000139747]
AlphaFold Q4VAD2
Predicted Effect probably damaging
Transcript: ENSMUST00000094522
AA Change: Q149L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: Q149L

DomainStartEndE-ValueType
low complexity region 403 413 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105768
AA Change: Q149L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000139747
AA Change: Q98L

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adamts2 T A 11: 50,694,639 (GRCm39) L1142* probably null Het
Arl13b C A 16: 62,622,150 (GRCm39) G381V probably damaging Het
Ash1l G T 3: 88,892,641 (GRCm39) V1507F probably damaging Het
Babam2 T A 5: 31,859,408 (GRCm39) F38I probably benign Het
Bend4 T C 5: 67,557,619 (GRCm39) Y399C probably damaging Het
Btn1a1 A T 13: 23,644,794 (GRCm39) probably null Het
Cacna1g A T 11: 94,319,973 (GRCm39) L1401Q probably damaging Het
Ccdc192 C T 18: 57,863,888 (GRCm39) Q213* probably null Het
Cep192 T C 18: 67,968,195 (GRCm39) V893A probably benign Het
Cnot10 A T 9: 114,447,012 (GRCm39) Y355N probably damaging Het
Col6a5 G C 9: 105,811,163 (GRCm39) S785R unknown Het
Cpa3 A G 3: 20,276,303 (GRCm39) L310P probably damaging Het
Cux2 A G 5: 122,015,152 (GRCm39) I247T probably benign Het
Dab1 A G 4: 104,561,449 (GRCm39) T245A probably benign Het
Dmrta1 A T 4: 89,579,985 (GRCm39) D315V probably damaging Het
Dnah12 T A 14: 26,583,762 (GRCm39) L599* probably null Het
Dync1h1 T C 12: 110,629,289 (GRCm39) I4231T possibly damaging Het
Fat1 T C 8: 45,476,000 (GRCm39) V1659A probably damaging Het
Flot2 G A 11: 77,949,888 (GRCm39) V406M probably damaging Het
Galnt2 A G 8: 125,032,362 (GRCm39) D75G probably damaging Het
Gcnt3 A T 9: 69,942,464 (GRCm39) C35S probably damaging Het
Gp2 A G 7: 119,052,118 (GRCm39) F199L probably benign Het
Gramd2b C T 18: 56,618,523 (GRCm39) P244S probably damaging Het
Hhipl1 T C 12: 108,278,203 (GRCm39) L177P probably damaging Het
Homez T C 14: 55,095,264 (GRCm39) E148G possibly damaging Het
Kcnab3 G A 11: 69,217,572 (GRCm39) C22Y possibly damaging Het
Kcnh8 C A 17: 53,185,009 (GRCm39) S430R probably damaging Het
Kcnn2 T C 18: 45,692,798 (GRCm39) C125R probably benign Het
Klhl7 G A 5: 24,346,185 (GRCm39) R277Q possibly damaging Het
Krt78 A G 15: 101,855,334 (GRCm39) S826P probably benign Het
Krtap14 T C 16: 88,622,919 (GRCm39) Y20C possibly damaging Het
Lrcol1 A G 5: 110,502,163 (GRCm39) probably null Het
Lrrc10b G A 19: 10,434,226 (GRCm39) P152S probably damaging Het
Lrrn3 C G 12: 41,503,124 (GRCm39) D398H probably damaging Het
Map3k19 T C 1: 127,749,932 (GRCm39) I1140V probably benign Het
Mos G A 4: 3,871,093 (GRCm39) T241M probably damaging Het
Nol8 A G 13: 49,807,901 (GRCm39) E39G possibly damaging Het
Olfm1 T G 2: 28,104,798 (GRCm39) S212A probably benign Het
Or2ak6 T A 11: 58,592,633 (GRCm39) F35L probably damaging Het
Pip4p2 G T 4: 14,912,458 (GRCm39) R189L probably damaging Het
Plec G T 15: 76,061,162 (GRCm39) T2947K probably damaging Het
Rasgrp3 A G 17: 75,823,350 (GRCm39) M474V probably benign Het
Ryr1 T C 7: 28,719,408 (GRCm39) Y4333C unknown Het
Scrn2 G C 11: 96,924,326 (GRCm39) probably null Het
Slc22a12 C A 19: 6,587,791 (GRCm39) V388L probably benign Het
Slc4a11 A G 2: 130,526,866 (GRCm39) V754A probably damaging Het
Slco2b1 A G 7: 99,335,195 (GRCm39) F195S probably damaging Het
Slfn9 A C 11: 82,872,216 (GRCm39) M840R possibly damaging Het
Speer4b T C 5: 27,706,263 (GRCm39) N35D probably damaging Het
Taf1d T A 9: 15,221,250 (GRCm39) D185E probably damaging Het
Taok2 A G 7: 126,475,213 (GRCm39) L245P probably damaging Het
Tent4a A T 13: 69,651,019 (GRCm39) probably null Het
Ticam2 T C 18: 46,693,846 (GRCm39) I80M probably damaging Het
Tmem268 G A 4: 63,502,164 (GRCm39) V331I probably benign Het
Tsga10 T C 1: 37,840,931 (GRCm39) E425G probably damaging Het
Ttc7 A G 17: 87,654,133 (GRCm39) probably null Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Unc13a T C 8: 72,107,489 (GRCm39) H601R probably damaging Het
Vmn2r102 A T 17: 19,880,661 (GRCm39) M1L probably benign Het
Vmn2r120 G T 17: 57,816,125 (GRCm39) N743K probably damaging Het
Wnt6 C A 1: 74,823,295 (GRCm39) probably null Het
Wnt6 A C 1: 74,823,296 (GRCm39) probably null Het
Wnt8a T A 18: 34,680,525 (GRCm39) C297S probably damaging Het
Zfp786 T C 6: 47,797,087 (GRCm39) Q617R probably benign Het
Zfp91 A G 19: 12,753,774 (GRCm39) probably null Het
Zw10 T A 9: 48,979,983 (GRCm39) F371L probably damaging Het
Other mutations in Pramel27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Pramel27 APN 4 143,579,846 (GRCm39) missense probably benign 0.01
IGL01383:Pramel27 APN 4 143,573,102 (GRCm39) utr 5 prime probably benign
IGL01735:Pramel27 APN 4 143,578,401 (GRCm39) missense probably damaging 1.00
IGL01976:Pramel27 APN 4 143,579,363 (GRCm39) missense probably benign 0.17
IGL03096:Pramel27 APN 4 143,577,485 (GRCm39) missense probably benign 0.01
IGL03280:Pramel27 APN 4 143,578,489 (GRCm39) missense possibly damaging 0.74
IGL03295:Pramel27 APN 4 143,579,759 (GRCm39) missense probably damaging 1.00
FR4342:Pramel27 UTSW 4 143,578,213 (GRCm39) frame shift probably null
PIT4687001:Pramel27 UTSW 4 143,573,103 (GRCm39) start gained probably benign
R0218:Pramel27 UTSW 4 143,578,401 (GRCm39) missense probably damaging 1.00
R0612:Pramel27 UTSW 4 143,578,658 (GRCm39) unclassified probably benign
R1755:Pramel27 UTSW 4 143,577,380 (GRCm39) missense probably damaging 1.00
R2509:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R2510:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R2511:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R4603:Pramel27 UTSW 4 143,579,451 (GRCm39) missense probably benign 0.01
R4694:Pramel27 UTSW 4 143,579,530 (GRCm39) missense probably damaging 0.97
R4856:Pramel27 UTSW 4 143,579,873 (GRCm39) missense probably benign 0.00
R4886:Pramel27 UTSW 4 143,579,873 (GRCm39) missense probably benign 0.00
R5168:Pramel27 UTSW 4 143,579,768 (GRCm39) missense probably benign 0.02
R5270:Pramel27 UTSW 4 143,578,468 (GRCm39) missense probably damaging 0.97
R5402:Pramel27 UTSW 4 143,578,225 (GRCm39) critical splice donor site probably null
R5618:Pramel27 UTSW 4 143,577,263 (GRCm39) missense possibly damaging 0.92
R6078:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
R6138:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
R6362:Pramel27 UTSW 4 143,579,435 (GRCm39) missense probably damaging 0.99
R6526:Pramel27 UTSW 4 143,579,384 (GRCm39) missense probably damaging 1.00
R6555:Pramel27 UTSW 4 143,578,140 (GRCm39) missense possibly damaging 0.58
R6595:Pramel27 UTSW 4 143,579,326 (GRCm39) missense probably damaging 1.00
R6675:Pramel27 UTSW 4 143,579,828 (GRCm39) missense probably damaging 0.98
R7216:Pramel27 UTSW 4 143,578,399 (GRCm39) missense probably damaging 0.96
R7282:Pramel27 UTSW 4 143,578,451 (GRCm39) missense possibly damaging 0.85
R7424:Pramel27 UTSW 4 143,579,779 (GRCm39) missense probably benign 0.01
R7511:Pramel27 UTSW 4 143,573,116 (GRCm39) missense possibly damaging 0.68
R7591:Pramel27 UTSW 4 143,577,481 (GRCm39) missense probably benign 0.01
R7868:Pramel27 UTSW 4 143,578,154 (GRCm39) missense possibly damaging 0.58
R8192:Pramel27 UTSW 4 143,578,109 (GRCm39) nonsense probably null
R8244:Pramel27 UTSW 4 143,579,854 (GRCm39) missense probably damaging 1.00
R8256:Pramel27 UTSW 4 143,578,255 (GRCm39) missense probably benign 0.05
R8531:Pramel27 UTSW 4 143,579,601 (GRCm39) missense probably benign 0.00
R8540:Pramel27 UTSW 4 143,579,496 (GRCm39) missense probably benign 0.00
R8793:Pramel27 UTSW 4 143,577,627 (GRCm39) intron probably benign
R8880:Pramel27 UTSW 4 143,573,140 (GRCm39) critical splice donor site probably null
R9069:Pramel27 UTSW 4 143,578,345 (GRCm39) missense probably benign 0.00
R9603:Pramel27 UTSW 4 143,578,267 (GRCm39) missense
R9748:Pramel27 UTSW 4 143,579,892 (GRCm39) makesense probably null
R9797:Pramel27 UTSW 4 143,579,818 (GRCm39) missense possibly damaging 0.79
U15987:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
Z1176:Pramel27 UTSW 4 143,579,680 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AGAGGGTTGATTTTAGGCACAG -3'
(R):5'- CGCCAGATCTTGTAGGCAAAG -3'

Sequencing Primer
(F):5'- TTGATTTTAGGCACAGGAAAAAGC -3'
(R):5'- TCTTGTAGGCAAAGAGAACATAGCTC -3'
Posted On 2016-04-15