Incidental Mutation 'R5008:Pramel30'
ID 390274
Institutional Source Beutler Lab
Gene Symbol Pramel30
Ensembl Gene ENSMUSG00000078508
Gene Name PRAME like 30
Synonyms Gm13128
MMRRC Submission 042599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5008 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 144056819-144060035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144057836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 148 (S148G)
Ref Sequence ENSEMBL: ENSMUSP00000101377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105751]
AlphaFold L7MU96
Predicted Effect probably benign
Transcript: ENSMUST00000105751
AA Change: S148G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101377
Gene: ENSMUSG00000078508
AA Change: S148G

DomainStartEndE-ValueType
low complexity region 188 200 N/A INTRINSIC
SCOP:d1a4ya_ 205 408 6e-11 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
2310057N15Rik A G 16: 88,570,663 (GRCm39) Y126H probably damaging Het
Catsperg1 A T 7: 28,894,859 (GRCm39) Y579* probably null Het
Chchd5 A T 2: 128,972,319 (GRCm39) probably null Het
Chd1l T C 3: 97,491,224 (GRCm39) N423D probably damaging Het
Cntnap1 G A 11: 101,079,567 (GRCm39) W1268* probably null Het
Col2a1 G A 15: 97,877,550 (GRCm39) A1011V probably benign Het
Cst11 A G 2: 148,612,325 (GRCm39) I104T probably benign Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dnaaf4 T C 9: 72,879,600 (GRCm39) probably benign Het
Dnah17 A G 11: 118,001,403 (GRCm39) F847L probably benign Het
Dspp A T 5: 104,323,439 (GRCm39) H194L possibly damaging Het
Dync2i2 C A 2: 29,922,781 (GRCm39) R322L probably benign Het
Frmd5 C A 2: 121,379,341 (GRCm39) R414L probably damaging Het
Galnt3 C A 2: 65,915,585 (GRCm39) R592L probably benign Het
Gm38706 T A 6: 130,461,580 (GRCm39) noncoding transcript Het
Gm38706 T A 6: 130,461,983 (GRCm39) noncoding transcript Het
Hivep3 A G 4: 119,956,114 (GRCm39) K1477E probably benign Het
Igsf3 C T 3: 101,358,233 (GRCm39) T708M probably damaging Het
Ikzf4 T G 10: 128,477,119 (GRCm39) E64A probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Krt87 T A 15: 101,389,105 (GRCm39) I76F probably damaging Het
Lat2 A G 5: 134,631,991 (GRCm39) V152A probably benign Het
Lrp12 C T 15: 39,741,852 (GRCm39) D288N probably damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myh4 T A 11: 67,144,358 (GRCm39) S1243T probably benign Het
Myo3b T A 2: 70,088,412 (GRCm39) F892I probably damaging Het
Nckap5l T C 15: 99,323,731 (GRCm39) N924S possibly damaging Het
Npnt C T 3: 132,612,218 (GRCm39) C218Y probably damaging Het
Or2a20 T A 6: 43,193,991 (GRCm39) I48N probably damaging Het
Or2d2b A T 7: 106,705,288 (GRCm39) M260K probably damaging Het
Or7a42 T A 10: 78,791,905 (GRCm39) F289I probably damaging Het
Pfkm G A 15: 98,020,570 (GRCm39) C233Y probably benign Het
Pigq A G 17: 26,153,177 (GRCm39) V338A probably benign Het
Pld4 A T 12: 112,734,484 (GRCm39) N415I possibly damaging Het
Pmm1 A T 15: 81,842,095 (GRCm39) probably null Het
Polg G T 7: 79,109,822 (GRCm39) P394T probably damaging Het
Polq A T 16: 36,882,749 (GRCm39) I1359L probably benign Het
Pros1 A G 16: 62,748,548 (GRCm39) N674D possibly damaging Het
Psme4 T A 11: 30,806,896 (GRCm39) probably benign Het
Rasa3 A T 8: 13,634,959 (GRCm39) C453* probably null Het
Repin1 T C 6: 48,573,542 (GRCm39) V101A probably damaging Het
Rnf186 A T 4: 138,694,540 (GRCm39) M27L probably benign Het
Rpa1 A G 11: 75,204,125 (GRCm39) probably null Het
Rph3a G T 5: 121,083,454 (GRCm39) N605K probably damaging Het
Rps18 A T 17: 34,171,258 (GRCm39) probably null Het
Scgn A G 13: 24,174,958 (GRCm39) I20T probably damaging Het
Skint6 A T 4: 112,848,452 (GRCm39) V652E possibly damaging Het
Slc23a2 T C 2: 131,943,414 (GRCm39) H29R probably damaging Het
Slc34a3 C T 2: 25,120,854 (GRCm39) V383I possibly damaging Het
Slc5a1 A G 5: 33,309,917 (GRCm39) M382V possibly damaging Het
Slc5a3 T A 16: 91,874,169 (GRCm39) S75R probably damaging Het
Stat5b G C 11: 100,693,309 (GRCm39) H111D probably benign Het
Tanc2 G A 11: 105,515,886 (GRCm39) M1I probably null Het
Tbcel C T 9: 42,327,419 (GRCm39) G328E probably damaging Het
Tecta C A 9: 42,284,358 (GRCm39) R909L possibly damaging Het
Tnip1 A T 11: 54,828,810 (GRCm39) M119K probably benign Het
Zbbx A C 3: 75,058,755 (GRCm39) S51A possibly damaging Het
Zc3h12c T C 9: 52,028,000 (GRCm39) N454S probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign Het
Other mutations in Pramel30
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0097:Pramel30 UTSW 4 144,057,857 (GRCm39) missense probably benign 0.01
R1743:Pramel30 UTSW 4 144,059,575 (GRCm39) missense probably benign 0.03
R3079:Pramel30 UTSW 4 144,058,098 (GRCm39) missense probably damaging 1.00
R3948:Pramel30 UTSW 4 144,057,876 (GRCm39) missense probably benign 0.01
R3954:Pramel30 UTSW 4 144,058,238 (GRCm39) missense probably benign 0.03
R4448:Pramel30 UTSW 4 144,059,255 (GRCm39) missense probably damaging 1.00
R5715:Pramel30 UTSW 4 144,057,870 (GRCm39) missense possibly damaging 0.67
R5986:Pramel30 UTSW 4 144,059,323 (GRCm39) missense probably damaging 0.98
R6008:Pramel30 UTSW 4 144,057,777 (GRCm39) missense probably benign 0.08
R6278:Pramel30 UTSW 4 144,056,837 (GRCm39) missense probably damaging 0.98
R6383:Pramel30 UTSW 4 144,059,717 (GRCm39) makesense probably null
R6523:Pramel30 UTSW 4 144,058,218 (GRCm39) missense probably benign 0.42
R6747:Pramel30 UTSW 4 144,059,548 (GRCm39) missense probably benign 0.00
R7276:Pramel30 UTSW 4 144,059,216 (GRCm39) missense possibly damaging 0.67
R7555:Pramel30 UTSW 4 144,059,311 (GRCm39) missense probably benign 0.01
R8213:Pramel30 UTSW 4 144,057,030 (GRCm39) missense probably benign 0.03
R8498:Pramel30 UTSW 4 144,058,233 (GRCm39) missense probably benign 0.00
R8801:Pramel30 UTSW 4 144,059,438 (GRCm39) missense probably benign 0.12
R8822:Pramel30 UTSW 4 144,057,092 (GRCm39) missense probably benign 0.38
R9443:Pramel30 UTSW 4 144,059,678 (GRCm39) missense possibly damaging 0.91
R9513:Pramel30 UTSW 4 144,059,678 (GRCm39) missense possibly damaging 0.91
R9542:Pramel30 UTSW 4 144,057,095 (GRCm39) missense possibly damaging 0.71
R9691:Pramel30 UTSW 4 144,056,844 (GRCm39) missense probably damaging 0.99
R9734:Pramel30 UTSW 4 144,057,737 (GRCm39) missense probably benign 0.00
Z1177:Pramel30 UTSW 4 144,057,763 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTATTGGAGACCCAGGACTG -3'
(R):5'- ACTCCTTGATGAACTCTGGCTG -3'

Sequencing Primer
(F):5'- AACAGTATTGGGTCTTGATTTCCC -3'
(R):5'- CCTTGATGAACTCTGGCTGTAAAAG -3'
Posted On 2016-06-06