Incidental Mutation 'R0017:Pramel4'
ID 50123
Institutional Source Beutler Lab
Gene Symbol Pramel4
Ensembl Gene ENSMUSG00000073724
Gene Name PRAME like 4
Synonyms D4Ertd792e
MMRRC Submission 038312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R0017 (G1)
Quality Score 43
Status Validated (trace)
Chromosome 4
Chromosomal Location 143785696-143795897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 143794914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 434 (C434G)
Ref Sequence ENSEMBL: ENSMUSP00000092097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084191] [ENSMUST00000091676] [ENSMUST00000094520] [ENSMUST00000133626] [ENSMUST00000156324]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084191
AA Change: C437G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081207
Gene: ENSMUSG00000073724
AA Change: C437G

DomainStartEndE-ValueType
SCOP:d1fqva2 220 440 1e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091676
AA Change: C434G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089265
Gene: ENSMUSG00000073724
AA Change: C434G

DomainStartEndE-ValueType
low complexity region 196 206 N/A INTRINSIC
SCOP:d1fqva2 217 437 3e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000094520
AA Change: C434G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092097
Gene: ENSMUSG00000073724
AA Change: C434G

DomainStartEndE-ValueType
low complexity region 196 206 N/A INTRINSIC
SCOP:d1fqva2 217 437 3e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133626
Predicted Effect probably benign
Transcript: ENSMUST00000156324
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.0%
  • 20x: 89.2%
Validation Efficiency 96% (76/79)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,226,938 (GRCm39) probably benign Het
Abca13 T A 11: 9,242,775 (GRCm39) I1546N probably damaging Het
Actrt3 A T 3: 30,652,422 (GRCm39) M224K probably benign Het
Adgrv1 T C 13: 81,727,065 (GRCm39) N429S probably benign Het
Appbp2 A C 11: 85,105,129 (GRCm39) C146G possibly damaging Het
Cabp2 A C 19: 4,136,242 (GRCm39) D83A possibly damaging Het
Ccl1 A G 11: 82,068,843 (GRCm39) probably null Het
Cdca8 T C 4: 124,814,168 (GRCm39) T208A probably benign Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Dcdc5 G A 2: 106,187,541 (GRCm39) noncoding transcript Het
Efr3b C A 12: 4,043,003 (GRCm39) C89F probably damaging Het
Enpp3 C T 10: 24,675,051 (GRCm39) probably null Het
Ep400 A T 5: 110,821,395 (GRCm39) V2467E probably damaging Het
Ermap T C 4: 119,037,145 (GRCm39) probably benign Het
Fig4 A G 10: 41,149,003 (GRCm39) Y150H possibly damaging Het
Fsip2 G A 2: 82,822,416 (GRCm39) V6050M probably damaging Het
Gnb1l T C 16: 18,359,810 (GRCm39) W72R probably damaging Het
Gpld1 A G 13: 25,174,101 (GRCm39) D842G probably damaging Het
Hmgcr A G 13: 96,788,597 (GRCm39) probably benign Het
Hrc A G 7: 44,985,794 (GRCm39) H315R possibly damaging Het
Ifit2 A T 19: 34,550,973 (GRCm39) N171I probably damaging Het
Ipo11 T A 13: 107,023,238 (GRCm39) I416L probably benign Het
Kcnab1 G A 3: 65,264,527 (GRCm39) V259M probably damaging Het
Kcng4 T C 8: 120,360,259 (GRCm39) Y39C probably damaging Het
Kif5c A G 2: 49,622,725 (GRCm39) T526A probably benign Het
Kntc1 A G 5: 123,919,044 (GRCm39) Y805C probably damaging Het
Mal A G 2: 127,482,227 (GRCm39) S59P probably damaging Het
Myh15 A G 16: 48,983,423 (GRCm39) N1513D probably damaging Het
Ncoa2 A G 1: 13,244,976 (GRCm39) L574P probably damaging Het
Nmd3 A G 3: 69,643,425 (GRCm39) probably null Het
Nucb2 A G 7: 116,132,386 (GRCm39) D331G probably benign Het
Nwd1 T C 8: 73,436,053 (GRCm39) probably benign Het
Nynrin T C 14: 56,109,852 (GRCm39) F1653S probably damaging Het
Or4a80 A C 2: 89,582,365 (GRCm39) I269S possibly damaging Het
Or7c19 T A 8: 85,957,706 (GRCm39) I194N probably benign Het
Or8b12b T G 9: 37,684,274 (GRCm39) F106L probably benign Het
Pfdn6 T C 17: 34,158,538 (GRCm39) R79G probably damaging Het
Pkd1 G T 17: 24,797,513 (GRCm39) probably null Het
Ptpn13 T C 5: 103,634,638 (GRCm39) probably null Het
Ptpro T C 6: 137,393,825 (GRCm39) V831A probably benign Het
Rabl6 A T 2: 25,492,579 (GRCm39) probably benign Het
Reg3b T A 6: 78,349,844 (GRCm39) M128K possibly damaging Het
Rif1 A G 2: 52,006,686 (GRCm39) T2207A probably benign Het
Rpa1 A C 11: 75,205,687 (GRCm39) N223K probably null Het
Rras2 T C 7: 113,647,490 (GRCm39) probably benign Het
Ryr1 T A 7: 28,746,967 (GRCm39) E3760V probably damaging Het
Scyl3 T A 1: 163,767,538 (GRCm39) I204N possibly damaging Het
Serpinb9h A C 13: 33,588,494 (GRCm39) I360L probably damaging Het
Slc16a12 A G 19: 34,650,098 (GRCm39) probably benign Het
Slc22a1 A G 17: 12,878,646 (GRCm39) F356L probably damaging Het
Slc22a29 A G 19: 8,195,630 (GRCm39) probably benign Het
Slc45a1 C A 4: 150,714,023 (GRCm39) D741Y possibly damaging Het
Slco1a5 A T 6: 142,182,061 (GRCm39) probably benign Het
Smg5 G T 3: 88,258,412 (GRCm39) R461L probably damaging Het
Snrk T C 9: 121,995,306 (GRCm39) S362P probably damaging Het
Spata31d1b A G 13: 59,863,883 (GRCm39) S344G probably benign Het
Sync G A 4: 129,187,537 (GRCm39) V190M probably damaging Het
Taf5l T C 8: 124,730,383 (GRCm39) Y67C probably damaging Het
Tbkbp1 A G 11: 97,037,115 (GRCm39) probably benign Het
Tshr A T 12: 91,504,660 (GRCm39) I533F possibly damaging Het
Tsn T C 1: 118,228,589 (GRCm39) D211G probably damaging Het
Ttn G A 2: 76,621,988 (GRCm39) T15518I probably benign Het
Unc13c T C 9: 73,600,583 (GRCm39) D1387G probably benign Het
Vapb A G 2: 173,613,397 (GRCm39) T99A probably benign Het
Vmn2r127 A G 17: 19,373,879 (GRCm39) noncoding transcript Het
Zfp280d A T 9: 72,246,292 (GRCm39) probably null Het
Other mutations in Pramel4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1051:Pramel4 UTSW 4 143,795,068 (GRCm39) missense possibly damaging 0.95
R3970:Pramel4 UTSW 4 143,795,044 (GRCm39) missense possibly damaging 0.93
R7409:Pramel4 UTSW 4 143,795,061 (GRCm39) missense probably benign 0.23
R8865:Pramel4 UTSW 4 143,795,052 (GRCm39) missense probably damaging 0.97
R9095:Pramel4 UTSW 4 143,794,928 (GRCm39) missense probably benign 0.05
Z1176:Pramel4 UTSW 4 143,795,091 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCCAGTGTCCAAGCATCCATCAG -3'
(R):5'- AGGCTCAGAAGATACCATGCCCTC -3'

Sequencing Primer
(F):5'- CTAGGATTTCTCGGAAGCCTAC -3'
(R):5'- CCTCCAAATTATACACGAGGTATTC -3'
Posted On 2013-06-13