Incidental Mutation 'R6684:Pramel6'
ID 527601
Institutional Source Beutler Lab
Gene Symbol Pramel6
Ensembl Gene ENSMUSG00000025838
Gene Name PRAME like 6
Synonyms
MMRRC Submission 044803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6684 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87336909-87341209 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87339748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 171 (W171R)
Ref Sequence ENSEMBL: ENSMUSP00000107198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026956] [ENSMUST00000111572]
AlphaFold Q810Y9
Predicted Effect probably damaging
Transcript: ENSMUST00000026956
AA Change: W171R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026956
Gene: ENSMUSG00000025838
AA Change: W171R

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
SCOP:d1a4ya_ 223 411 5e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111572
AA Change: W171R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107198
Gene: ENSMUSG00000025838
AA Change: W171R

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
SCOP:d1a4ya_ 223 411 5e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150746
Meta Mutation Damage Score 0.4878 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 94% (33/35)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 G A 5: 24,774,137 (GRCm39) R322W probably damaging Het
Capns1 C A 7: 29,893,324 (GRCm39) G63V probably damaging Het
Carmil1 G A 13: 24,206,525 (GRCm39) T5M unknown Het
Cr2 T A 1: 194,853,329 (GRCm39) K70* probably null Het
Dapk1 T A 13: 60,908,708 (GRCm39) I1107N probably damaging Het
Ehd4 A G 2: 119,984,815 (GRCm39) F48L probably damaging Het
Fam221a G T 6: 49,349,542 (GRCm39) E36* probably null Het
Fam81b G A 13: 76,350,157 (GRCm39) Q423* probably null Het
Galnt7 C T 8: 57,991,143 (GRCm39) V456I probably benign Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Hrc A G 7: 44,985,956 (GRCm39) H369R possibly damaging Het
Impg2 T G 16: 56,080,292 (GRCm39) S590A probably benign Het
Lcn3 A T 2: 25,656,170 (GRCm39) H75L probably benign Het
Lims1 T A 10: 58,234,835 (GRCm39) probably null Het
Lkaaear1 TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG 2: 181,339,354 (GRCm39) probably benign Het
Or5p79 A G 7: 108,221,141 (GRCm39) T41A probably damaging Het
Orai3 A G 7: 127,372,892 (GRCm39) N131S probably damaging Het
Pcdhga7 T C 18: 37,849,103 (GRCm39) L370P probably damaging Het
Phtf2 A G 5: 21,017,937 (GRCm39) probably benign Het
Plcg2 T C 8: 118,323,071 (GRCm39) Y709H probably damaging Het
Pmfbp1 T C 8: 110,262,462 (GRCm39) S719P probably benign Het
Polr3g A T 13: 81,847,650 (GRCm39) probably null Het
Ppp4r1 G A 17: 66,131,337 (GRCm39) A360T probably benign Het
Rad54b T C 4: 11,583,689 (GRCm39) probably benign Het
Rasl10a G A 11: 5,008,396 (GRCm39) E31K possibly damaging Het
Ryr3 T C 2: 112,583,433 (GRCm39) R2813G probably damaging Het
Tmem71 A G 15: 66,413,539 (GRCm39) S178P possibly damaging Het
Trim58 A G 11: 58,542,446 (GRCm39) T469A probably benign Het
Vash1 A G 12: 86,735,683 (GRCm39) T190A probably damaging Het
Ythdc2 T C 18: 45,006,136 (GRCm39) S1210P possibly damaging Het
Zfp42 G A 8: 43,749,093 (GRCm39) T136M possibly damaging Het
Zfp595 T C 13: 67,468,341 (GRCm39) Y72C probably damaging Het
Other mutations in Pramel6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Pramel6 APN 2 87,341,129 (GRCm39) utr 3 prime probably benign
IGL02867:Pramel6 APN 2 87,340,736 (GRCm39) missense probably damaging 0.98
IGL03212:Pramel6 APN 2 87,340,769 (GRCm39) missense probably damaging 1.00
R1453:Pramel6 UTSW 2 87,338,917 (GRCm39) missense possibly damaging 0.83
R1905:Pramel6 UTSW 2 87,339,527 (GRCm39) missense probably damaging 0.99
R1905:Pramel6 UTSW 2 87,339,526 (GRCm39) missense probably damaging 1.00
R1940:Pramel6 UTSW 2 87,339,076 (GRCm39) missense probably damaging 1.00
R2057:Pramel6 UTSW 2 87,339,059 (GRCm39) missense possibly damaging 0.92
R2073:Pramel6 UTSW 2 87,339,088 (GRCm39) missense probably damaging 1.00
R3423:Pramel6 UTSW 2 87,341,140 (GRCm39) splice site probably null
R3500:Pramel6 UTSW 2 87,339,569 (GRCm39) missense probably damaging 0.96
R4097:Pramel6 UTSW 2 87,339,697 (GRCm39) missense probably benign 0.19
R4396:Pramel6 UTSW 2 87,338,874 (GRCm39) missense probably damaging 1.00
R4538:Pramel6 UTSW 2 87,338,903 (GRCm39) missense probably benign 0.02
R4719:Pramel6 UTSW 2 87,341,096 (GRCm39) missense probably benign 0.00
R4779:Pramel6 UTSW 2 87,339,941 (GRCm39) missense probably benign 0.01
R6054:Pramel6 UTSW 2 87,339,003 (GRCm39) missense probably benign 0.07
R6457:Pramel6 UTSW 2 87,339,782 (GRCm39) missense probably damaging 0.99
R6477:Pramel6 UTSW 2 87,340,946 (GRCm39) missense possibly damaging 0.92
R6492:Pramel6 UTSW 2 87,340,766 (GRCm39) missense probably benign 0.19
R6983:Pramel6 UTSW 2 87,339,923 (GRCm39) missense possibly damaging 0.94
R7351:Pramel6 UTSW 2 87,340,672 (GRCm39) missense probably benign 0.00
R7357:Pramel6 UTSW 2 87,340,856 (GRCm39) missense not run
R7748:Pramel6 UTSW 2 87,339,043 (GRCm39) missense probably damaging 1.00
R7991:Pramel6 UTSW 2 87,340,031 (GRCm39) missense probably benign 0.00
R8116:Pramel6 UTSW 2 87,338,808 (GRCm39) missense probably benign 0.02
R8367:Pramel6 UTSW 2 87,340,814 (GRCm39) missense probably damaging 1.00
R8487:Pramel6 UTSW 2 87,339,045 (GRCm39) missense probably damaging 1.00
R9521:Pramel6 UTSW 2 87,340,629 (GRCm39) nonsense probably null
Z1176:Pramel6 UTSW 2 87,339,066 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTGCACCATGACTTCTGGAG -3'
(R):5'- TCCCTCTAACATGAGTGTGTG -3'

Sequencing Primer
(F):5'- CTTCTGGAGCATACAGACTGGATC -3'
(R):5'- TTCATTCCCTCCAGGTAAGGATCAAG -3'
Posted On 2018-07-23