Incidental Mutation 'R4922:Pramel17'
ID 378676
Institutional Source Beutler Lab
Gene Symbol Pramel17
Ensembl Gene ENSMUSG00000035201
Gene Name PRAME like 17
Synonyms B020004J07Rik
MMRRC Submission 042524-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4922 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 101692166-101701219 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101692729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 424 (M424L)
Ref Sequence ENSEMBL: ENSMUSP00000102532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084386] [ENSMUST00000106919]
AlphaFold Q3UTC0
Predicted Effect probably benign
Transcript: ENSMUST00000084386
AA Change: M424L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: M424L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106919
AA Change: M424L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: M424L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,901,645 (GRCm39) C423F probably damaging Het
Akap11 A T 14: 78,750,220 (GRCm39) Y722* probably null Het
Albfm1 A G 5: 90,727,570 (GRCm39) H396R possibly damaging Het
Anxa3 A T 5: 96,968,288 (GRCm39) I114F probably damaging Het
Arfgef3 T A 10: 18,467,934 (GRCm39) R1755S probably damaging Het
Atf7ip A T 6: 136,537,039 (GRCm39) T91S possibly damaging Het
Bcl2 C A 1: 106,640,376 (GRCm39) A79S probably benign Het
Bltp1 T A 3: 37,041,314 (GRCm39) I2564K probably damaging Het
Bmerb1 A G 16: 13,804,683 (GRCm39) H10R possibly damaging Het
Bmp10 C T 6: 87,410,557 (GRCm39) P117S probably benign Het
Bmpr2 A G 1: 59,906,583 (GRCm39) T559A probably benign Het
Cd200r1 A T 16: 44,610,039 (GRCm39) Y86F probably damaging Het
Cemip T A 7: 83,596,308 (GRCm39) probably benign Het
Cfap251 T C 5: 123,394,116 (GRCm39) V335A probably benign Het
Cfap52 A G 11: 67,822,548 (GRCm39) probably null Het
Chml T C 1: 175,514,712 (GRCm39) H60R possibly damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Clec12a A G 6: 129,336,441 (GRCm39) Y201C probably damaging Het
Col15a1 T C 4: 47,258,719 (GRCm39) V370A probably benign Het
Cpsf3 T C 12: 21,351,538 (GRCm39) I353T probably damaging Het
Csf2rb T A 15: 78,230,667 (GRCm39) V470E probably benign Het
Cyp4a10 C A 4: 115,378,291 (GRCm39) Q126K probably benign Het
Dennd1b T C 1: 139,013,652 (GRCm39) S249P probably damaging Het
Dnase2a A G 8: 85,635,625 (GRCm39) probably null Het
Dpp10 T C 1: 123,305,882 (GRCm39) N490S probably benign Het
Drgx A T 14: 32,330,363 (GRCm39) N160I probably damaging Het
Enc1 C T 13: 97,382,243 (GRCm39) A251V probably benign Het
Fancd2 T C 6: 113,562,434 (GRCm39) V1258A probably benign Het
Fancm G A 12: 65,153,666 (GRCm39) probably null Het
Fbxo16 C T 14: 65,536,657 (GRCm39) T177I probably benign Het
Gm1965 T C 6: 89,123,525 (GRCm39) noncoding transcript Het
Hal A T 10: 93,339,401 (GRCm39) M497L probably damaging Het
Hectd4 T C 5: 121,497,378 (GRCm39) L3936S possibly damaging Het
Hs3st4 G T 7: 123,996,410 (GRCm39) G359W probably damaging Het
Il6st C T 13: 112,639,399 (GRCm39) P608L probably damaging Het
Kctd18 A C 1: 58,004,707 (GRCm39) probably benign Het
Kntc1 T A 5: 123,940,309 (GRCm39) S1636T probably damaging Het
Lrrn1 A T 6: 107,545,311 (GRCm39) S370C probably damaging Het
Mtcl1 A C 17: 66,655,474 (GRCm39) C968G probably benign Het
Mylip G A 13: 45,562,238 (GRCm39) A347T probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncoa4-ps A G 12: 119,226,252 (GRCm39) noncoding transcript Het
Neu4 T A 1: 93,950,200 (GRCm39) V53E probably damaging Het
Nxpe3 T C 16: 55,680,687 (GRCm39) I302V probably benign Het
Or11i1 A T 3: 106,729,576 (GRCm39) C100S probably damaging Het
Or4c15b A T 2: 89,112,811 (GRCm39) L243Q possibly damaging Het
Otos T C 1: 92,572,090 (GRCm39) T79A probably damaging Het
Pde4a T C 9: 21,122,009 (GRCm39) I578T probably damaging Het
Prex2 C T 1: 11,240,164 (GRCm39) P927S probably damaging Het
Prune2 A T 19: 17,100,116 (GRCm39) K1873N probably benign Het
Ptk7 C A 17: 46,887,417 (GRCm39) probably null Het
Reln T A 5: 22,200,585 (GRCm39) probably null Het
Rgl2 A G 17: 34,151,749 (GRCm39) probably benign Het
Rnf145 T A 11: 44,448,063 (GRCm39) probably benign Het
Ryr2 T C 13: 11,724,849 (GRCm39) E2488G probably damaging Het
Sgo2b A T 8: 64,379,664 (GRCm39) M1056K possibly damaging Het
Snapc4 A G 2: 26,259,245 (GRCm39) V635A probably benign Het
Snx19 T A 9: 30,348,763 (GRCm39) Y101N probably benign Het
Sorl1 C A 9: 41,925,746 (GRCm39) probably null Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speer4a2 A T 5: 26,289,791 (GRCm39) I212N probably damaging Het
Tmem30b G A 12: 73,592,488 (GRCm39) P209L probably damaging Het
Trbv12-2 G T 6: 41,096,081 (GRCm39) C52F probably damaging Het
Tsc2 T A 17: 24,819,343 (GRCm39) D1304V probably benign Het
Ugt2b36 T C 5: 87,214,183 (GRCm39) Y487C probably damaging Het
Vmn1r10 T A 6: 57,090,811 (GRCm39) N134K probably damaging Het
Wdr27 C A 17: 15,141,016 (GRCm39) probably null Het
Wdr75 T C 1: 45,855,638 (GRCm39) F430L probably damaging Het
Zfp629 A G 7: 127,211,299 (GRCm39) I170T probably damaging Het
Other mutations in Pramel17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Pramel17 APN 4 101,692,729 (GRCm39) missense probably benign
IGL01615:Pramel17 APN 4 101,694,201 (GRCm39) missense possibly damaging 0.63
IGL01765:Pramel17 APN 4 101,695,049 (GRCm39) missense probably benign 0.03
IGL02228:Pramel17 APN 4 101,694,055 (GRCm39) missense probably benign 0.03
IGL02276:Pramel17 APN 4 101,695,306 (GRCm39) missense possibly damaging 0.89
IGL02548:Pramel17 APN 4 101,692,770 (GRCm39) missense probably damaging 0.99
IGL03226:Pramel17 APN 4 101,692,594 (GRCm39) missense probably benign 0.00
R0124:Pramel17 UTSW 4 101,692,570 (GRCm39) makesense probably null
R0449:Pramel17 UTSW 4 101,694,158 (GRCm39) missense probably benign 0.01
R0573:Pramel17 UTSW 4 101,692,611 (GRCm39) missense probably damaging 0.96
R1159:Pramel17 UTSW 4 101,695,224 (GRCm39) missense possibly damaging 0.54
R1689:Pramel17 UTSW 4 101,694,376 (GRCm39) missense possibly damaging 0.63
R1857:Pramel17 UTSW 4 101,692,770 (GRCm39) missense probably damaging 1.00
R1861:Pramel17 UTSW 4 101,694,135 (GRCm39) missense probably benign
R2570:Pramel17 UTSW 4 101,694,443 (GRCm39) missense probably benign 0.01
R3886:Pramel17 UTSW 4 101,692,920 (GRCm39) missense probably benign 0.09
R4984:Pramel17 UTSW 4 101,692,796 (GRCm39) missense possibly damaging 0.63
R5503:Pramel17 UTSW 4 101,692,999 (GRCm39) missense probably benign 0.00
R6230:Pramel17 UTSW 4 101,694,411 (GRCm39) missense probably damaging 0.96
R6831:Pramel17 UTSW 4 101,694,094 (GRCm39) missense probably benign 0.26
R7172:Pramel17 UTSW 4 101,694,193 (GRCm39) missense probably benign 0.00
R7201:Pramel17 UTSW 4 101,695,338 (GRCm39) critical splice acceptor site probably null
R7220:Pramel17 UTSW 4 101,694,565 (GRCm39) missense probably benign 0.00
R7253:Pramel17 UTSW 4 101,692,725 (GRCm39) missense probably benign 0.31
R7545:Pramel17 UTSW 4 101,695,159 (GRCm39) missense probably benign 0.00
R7567:Pramel17 UTSW 4 101,694,331 (GRCm39) missense probably benign 0.00
R7763:Pramel17 UTSW 4 101,694,338 (GRCm39) missense possibly damaging 0.95
R8003:Pramel17 UTSW 4 101,693,130 (GRCm39) missense probably benign 0.21
R8005:Pramel17 UTSW 4 101,694,448 (GRCm39) missense probably damaging 1.00
R8836:Pramel17 UTSW 4 101,693,022 (GRCm39) missense probably benign 0.00
R9125:Pramel17 UTSW 4 101,694,073 (GRCm39) missense probably benign 0.26
R9332:Pramel17 UTSW 4 101,695,144 (GRCm39) missense probably damaging 1.00
R9545:Pramel17 UTSW 4 101,693,097 (GRCm39) missense probably damaging 0.99
R9733:Pramel17 UTSW 4 101,692,965 (GRCm39) missense possibly damaging 0.74
R9775:Pramel17 UTSW 4 101,694,244 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGATTTCATTTCCCAGCATCCAG -3'
(R):5'- TGCAGGATGAAGGACTCTCAC -3'

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