Incidental Mutation 'RF006:Pramel34'
ID 602816
Institutional Source Beutler Lab
Gene Symbol Pramel34
Ensembl Gene ENSMUSG00000070686
Gene Name PRAME like 34
Synonyms C87414
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # RF006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 93783041-93819368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93784562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 301 (C301S)
Ref Sequence ENSEMBL: ENSMUSP00000124780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076321] [ENSMUST00000159578] [ENSMUST00000160382] [ENSMUST00000162964]
AlphaFold E9PWI7
Predicted Effect probably benign
Transcript: ENSMUST00000076321
AA Change: C104S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000075662
Gene: ENSMUSG00000070686
AA Change: C104S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 67 191 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159578
Predicted Effect probably benign
Transcript: ENSMUST00000160382
Predicted Effect probably benign
Transcript: ENSMUST00000162964
AA Change: C301S

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124780
Gene: ENSMUSG00000070686
AA Change: C301S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 199 388 1e-9 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd7 GTT GT 2: 3,341,736 (GRCm39) probably null Het
Acp7 A T 7: 28,314,204 (GRCm39) N330K possibly damaging Het
Adam25 A T 8: 41,208,834 (GRCm39) H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,686,717 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,362,070 (GRCm39) V689E probably benign Het
Atxn2l A G 7: 126,095,063 (GRCm39) V533A probably benign Het
Catsperb G A 12: 101,542,238 (GRCm39) probably null Het
Ccdc121 C T 5: 31,644,894 (GRCm39) Q216* probably null Het
Ccdc13 T C 9: 121,643,273 (GRCm39) K376R probably damaging Het
Ccdc170 C CCAA 10: 4,511,030 (GRCm39) probably benign Het
Cdh9 G C 15: 16,855,916 (GRCm39) R652P probably damaging Het
Cenpf A C 1: 189,389,583 (GRCm39) C1416W probably damaging Het
Chga GCA GCATCA 12: 102,527,671 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Dennd3 T C 15: 73,419,441 (GRCm39) I744T probably damaging Het
Dnah1 C T 14: 31,029,832 (GRCm39) R491Q probably benign Het
Eif4a2 A T 16: 22,929,028 (GRCm39) M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,006,294 (GRCm39) probably benign Het
Fat3 T C 9: 15,909,913 (GRCm39) I2030V probably benign Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Gins4 A T 8: 23,717,183 (GRCm39) V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,272,892 (GRCm39) probably benign Het
Gm17604 CTCTCTTTC CTC X: 163,786,814 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,128 (GRCm39) probably benign Het
Gnpnat1 T A 14: 45,620,900 (GRCm39) probably null Het
Inpp4a A C 1: 37,427,908 (GRCm39) N651T possibly damaging Het
Ireb2 T C 9: 54,788,768 (GRCm39) F81L possibly damaging Het
Kcnh3 T A 15: 99,137,809 (GRCm39) probably null Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,285,802 (GRCm39) probably benign Het
Kmt2c TG TGCTGTGG 5: 25,520,770 (GRCm39) probably benign Het
Myt1 T C 2: 181,439,566 (GRCm39) S405P probably damaging Het
Net1 T C 13: 3,937,406 (GRCm39) T245A probably benign Het
Nkx2-1 T C 12: 56,580,332 (GRCm39) T203A probably damaging Het
Oas3 T C 5: 120,912,165 (GRCm39) E75G probably damaging Het
Pappa T A 4: 65,242,110 (GRCm39) D1491E probably benign Het
Pkhd1l1 C A 15: 44,366,634 (GRCm39) T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,421,903 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,234,702 (GRCm39) I146F possibly damaging Het
Ppp1r8 TCTCTCAC TC 4: 132,557,928 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,600 (GRCm39) I157F probably benign Het
Rspo4 C T 2: 151,709,797 (GRCm39) probably null Het
Rtn4 T C 11: 29,656,919 (GRCm39) S358P possibly damaging Het
Siglecg T A 7: 43,058,288 (GRCm39) Y58* probably null Het
Slc4a1 C T 11: 102,247,542 (GRCm39) probably null Het
Slc9b1 CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG 3: 135,063,303 (GRCm39) probably benign Het
Smc2 T A 4: 52,442,276 (GRCm39) D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 (GRCm39) probably benign Het
Srrm2 A G 17: 24,031,562 (GRCm39) S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,984,700 (GRCm39) probably null Het
Tfeb CAG CAGGAG 17: 48,097,038 (GRCm39) probably benign Het
Tktl2 A T 8: 66,965,504 (GRCm39) E354V probably benign Het
Tpte A G 8: 22,796,959 (GRCm39) T94A probably benign Het
Usp40 A C 1: 87,894,917 (GRCm39) S868A possibly damaging Het
Vmn2r24 G A 6: 123,783,378 (GRCm39) C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Other mutations in Pramel34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Pramel34 APN 5 93,784,336 (GRCm39) missense probably damaging 1.00
IGL01642:Pramel34 APN 5 93,784,154 (GRCm39) missense possibly damaging 0.84
IGL02735:Pramel34 APN 5 93,786,503 (GRCm39) missense possibly damaging 0.94
PIT4466001:Pramel34 UTSW 5 93,784,147 (GRCm39) missense probably damaging 1.00
R1830:Pramel34 UTSW 5 93,785,545 (GRCm39) missense probably benign 0.03
R2071:Pramel34 UTSW 5 93,784,375 (GRCm39) missense probably damaging 1.00
R4404:Pramel34 UTSW 5 93,785,572 (GRCm39) missense possibly damaging 0.81
R4606:Pramel34 UTSW 5 93,784,461 (GRCm39) missense probably damaging 0.96
R4672:Pramel34 UTSW 5 93,784,182 (GRCm39) missense probably damaging 0.99
R5056:Pramel34 UTSW 5 93,786,784 (GRCm39) start gained probably benign
R5118:Pramel34 UTSW 5 93,785,656 (GRCm39) missense probably benign 0.03
R5288:Pramel34 UTSW 5 93,785,607 (GRCm39) missense possibly damaging 0.86
R5441:Pramel34 UTSW 5 93,784,456 (GRCm39) missense possibly damaging 0.84
R6190:Pramel34 UTSW 5 93,785,937 (GRCm39) missense probably benign 0.14
R6513:Pramel34 UTSW 5 93,785,391 (GRCm39) splice site probably null
R7464:Pramel34 UTSW 5 93,784,099 (GRCm39) missense probably damaging 1.00
R7941:Pramel34 UTSW 5 93,785,887 (GRCm39) missense probably benign 0.04
R7961:Pramel34 UTSW 5 93,784,543 (GRCm39) missense probably damaging 1.00
R8130:Pramel34 UTSW 5 93,784,597 (GRCm39) missense probably damaging 1.00
R8389:Pramel34 UTSW 5 93,785,587 (GRCm39) missense probably benign 0.10
R8725:Pramel34 UTSW 5 93,784,316 (GRCm39) missense probably damaging 1.00
R8742:Pramel34 UTSW 5 93,785,935 (GRCm39) missense probably damaging 0.96
R8812:Pramel34 UTSW 5 93,785,660 (GRCm39) missense possibly damaging 0.84
R8849:Pramel34 UTSW 5 93,784,197 (GRCm39) missense probably benign 0.01
R8930:Pramel34 UTSW 5 93,785,944 (GRCm39) missense probably benign 0.39
R8932:Pramel34 UTSW 5 93,785,944 (GRCm39) missense probably benign 0.39
R8976:Pramel34 UTSW 5 93,785,977 (GRCm39) missense probably damaging 0.99
R9201:Pramel34 UTSW 5 93,785,937 (GRCm39) missense probably benign 0.14
R9229:Pramel34 UTSW 5 93,784,089 (GRCm39) nonsense probably null
R9287:Pramel34 UTSW 5 93,785,969 (GRCm39) missense possibly damaging 0.77
R9347:Pramel34 UTSW 5 93,786,697 (GRCm39) missense probably damaging 0.96
R9536:Pramel34 UTSW 5 93,784,289 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATCTGGGAGTCCTTCATCC -3'
(R):5'- TTGGCATGAATGAGCAGATCC -3'

Sequencing Primer
(F):5'- GATCTGGGAGTCCTTCATCCTACAC -3'
(R):5'- TGAGCAGATCCAATAGTAAGCATC -3'
Posted On 2019-12-04