Incidental Mutation 'R4006:Pramex1'
ID 311497
Institutional Source Beutler Lab
Gene Symbol Pramex1
Ensembl Gene ENSMUSG00000031411
Gene Name PRAME like, X-linked 1
Synonyms 4930534P07Rik, Prame
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4006 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 134513751-134528454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134514374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 305 (L305Q)
Ref Sequence ENSEMBL: ENSMUSP00000108784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033786] [ENSMUST00000113159]
AlphaFold Q9D4Z5
Predicted Effect probably damaging
Transcript: ENSMUST00000033786
AA Change: L305Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033786
Gene: ENSMUSG00000031411
AA Change: L305Q

DomainStartEndE-ValueType
SCOP:d1a4ya_ 209 409 8e-13 SMART
low complexity region 442 453 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113159
AA Change: L305Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108784
Gene: ENSMUSG00000031411
AA Change: L305Q

DomainStartEndE-ValueType
SCOP:d1a4ya_ 209 409 8e-13 SMART
low complexity region 442 453 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117832
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly damaging Het
Other mutations in Pramex1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Pramex1 APN X 134,515,258 (GRCm39) missense probably benign 0.44
R3879:Pramex1 UTSW X 134,514,194 (GRCm39) missense probably benign
R4007:Pramex1 UTSW X 134,514,374 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGATAGTGCTGGCAGAATAGC -3'
(R):5'- GGTCAGGTCGCACATCTATG -3'

Sequencing Primer
(F):5'- ATGGCATCTGTTAAATGGCAATGG -3'
(R):5'- TCAGGTCGCACATCTATGAAGTG -3'
Posted On 2015-04-29