Incidental Mutation 'R0449:Pramel17'
ID 39506
Institutional Source Beutler Lab
Gene Symbol Pramel17
Ensembl Gene ENSMUSG00000035201
Gene Name PRAME like 17
Synonyms B020004J07Rik
MMRRC Submission 038649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0449 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 101692166-101701219 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101694158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 242 (S242G)
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: S242G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: S242G

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106919
AA Change: S242G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: S242G

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,885 (GRCm39) R813* probably null Het
Accsl T A 2: 93,696,419 (GRCm39) I60F probably benign Het
Adam29 C T 8: 56,325,716 (GRCm39) G246D probably benign Het
Ankrd13c A G 3: 157,697,351 (GRCm39) I319V probably benign Het
Bag6 T G 17: 35,360,442 (GRCm39) V327G probably damaging Het
Barhl1 C T 2: 28,805,304 (GRCm39) A130T probably benign Het
Bend4 T C 5: 67,555,583 (GRCm39) D541G probably damaging Het
Birc6 A C 17: 74,999,290 (GRCm39) T4673P probably damaging Het
Ccdc81 T C 7: 89,539,679 (GRCm39) R186G probably damaging Het
Cdyl2 A G 8: 117,309,931 (GRCm39) F342L probably damaging Het
Chd3 C A 11: 69,248,367 (GRCm39) V748L probably damaging Het
CN725425 G T 15: 91,123,147 (GRCm39) R72I possibly damaging Het
Col22a1 A G 15: 71,834,520 (GRCm39) probably null Het
Cops3 A G 11: 59,709,243 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,433,606 (GRCm39) Q940K possibly damaging Het
Dtnb C T 12: 3,641,971 (GRCm39) Q45* probably null Het
Efr3a T A 15: 65,714,553 (GRCm39) I280K probably damaging Het
Eml6 A C 11: 29,843,213 (GRCm39) V167G probably benign Het
Fam83c T A 2: 155,672,215 (GRCm39) M407L probably benign Het
Fasn T C 11: 120,701,894 (GRCm39) T1862A probably benign Het
Fbxl6 A G 15: 76,420,155 (GRCm39) I486T probably damaging Het
Gpr182 A G 10: 127,586,565 (GRCm39) Y129H probably damaging Het
Gpr75 A G 11: 30,842,456 (GRCm39) S454G probably damaging Het
Hectd4 G A 5: 121,502,653 (GRCm39) probably null Het
Hsf4 A G 8: 106,002,222 (GRCm39) T411A probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il4 A T 11: 53,509,432 (GRCm39) M1K probably null Het
Ints11 G T 4: 155,972,405 (GRCm39) R463L probably benign Het
Ints4 G A 7: 97,178,430 (GRCm39) E677K probably damaging Het
Klk1b11 G A 7: 43,647,216 (GRCm39) C50Y probably damaging Het
Krt14 C A 11: 100,098,221 (GRCm39) G21C unknown Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lama3 A G 18: 12,633,569 (GRCm39) probably null Het
Lrrk2 T C 15: 91,634,478 (GRCm39) L1414P probably damaging Het
Matn2 T C 15: 34,428,687 (GRCm39) S684P probably damaging Het
Mga T A 2: 119,771,862 (GRCm39) V1574D probably damaging Het
Mia2 T C 12: 59,219,380 (GRCm39) probably null Het
Mrpl21 T A 19: 3,342,459 (GRCm39) probably benign Het
Msh5 T A 17: 35,260,458 (GRCm39) Q266L probably benign Het
Mybpc1 C A 10: 88,376,822 (GRCm39) C758F probably damaging Het
Myo15a G A 11: 60,400,422 (GRCm39) A2932T possibly damaging Het
Nbas T A 12: 13,569,109 (GRCm39) I2021K probably benign Het
Neurl4 T C 11: 69,796,393 (GRCm39) S424P probably damaging Het
Or10j5 T A 1: 172,784,965 (GRCm39) V201E probably damaging Het
Or2w3 A C 11: 58,556,789 (GRCm39) I135L probably benign Het
Or6c6 A G 10: 129,187,103 (GRCm39) M224V probably benign Het
Or7g17 T C 9: 18,767,945 (GRCm39) M8T probably benign Het
Or7g32 T A 9: 19,389,388 (GRCm39) I53F possibly damaging Het
Phlpp1 C T 1: 106,278,308 (GRCm39) R907W probably damaging Het
Pigg T C 5: 108,484,277 (GRCm39) V508A probably benign Het
Pkhd1l1 T G 15: 44,364,915 (GRCm39) Y685D probably damaging Het
Polr3a A T 14: 24,534,534 (GRCm39) I34N probably damaging Het
Prex1 A G 2: 166,411,297 (GRCm39) V1434A probably benign Het
Ptprh T A 7: 4,601,005 (GRCm39) D124V probably damaging Het
Rad54b T A 4: 11,606,131 (GRCm39) I513N probably benign Het
Rbm12b1 A G 4: 12,145,507 (GRCm39) N493S probably benign Het
Rfx7 A T 9: 72,517,586 (GRCm39) probably null Het
Serpini1 A G 3: 75,520,648 (GRCm39) K82E probably benign Het
Slc27a6 T G 18: 58,742,237 (GRCm39) probably null Het
Slc35f2 G T 9: 53,724,201 (GRCm39) L358F probably damaging Het
Slc45a1 A C 4: 150,727,762 (GRCm39) I158M probably damaging Het
Slurp2 G A 15: 74,614,955 (GRCm39) P62L probably damaging Het
Sspo C T 6: 48,443,674 (GRCm39) H1949Y probably damaging Het
Tiam1 A T 16: 89,634,715 (GRCm39) V865E possibly damaging Het
Tlr4 A C 4: 66,757,857 (GRCm39) I217L probably damaging Het
Top1 C T 2: 160,554,628 (GRCm39) R460* probably null Het
Trpm3 T A 19: 22,965,418 (GRCm39) S1638T probably benign Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Vars1 T G 17: 35,231,703 (GRCm39) probably null Het
Xylt2 A G 11: 94,557,159 (GRCm39) Y111H probably benign Het
Zbed5 G A 5: 129,930,567 (GRCm39) G172D probably damaging Het
Zfp53 C T 17: 21,729,095 (GRCm39) T376I probably benign Het
Zfp937 G T 2: 150,081,466 (GRCm39) V499L probably benign Het
Zyx T A 6: 42,328,247 (GRCm39) L152Q 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
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
R4922:Pramel17 UTSW 4 101,692,729 (GRCm39) missense probably benign
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'- AGTTGAAACAGCTCATCACCCTTCC -3'
(R):5'- ACGAACACCAAATATGCTTGCTGC -3'

Sequencing Primer
(F):5'- TCACCCTTCCTTACCTGAACAAC -3'
(R):5'- CAGCTATGCTGTCTGAAGATGAC -3'
Posted On 2013-05-23