Incidental Mutation 'R4498:Pramel32'
ID 331686
Institutional Source Beutler Lab
Gene Symbol Pramel32
Ensembl Gene ENSMUSG00000038330
Gene Name PRAME like 32
Synonyms C87499
MMRRC Submission 041751-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.394) question?
Stock # R4498 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 88545557-88552423 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 88547129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053304] [ENSMUST00000107142] [ENSMUST00000107143] [ENSMUST00000134155] [ENSMUST00000156062]
AlphaFold Q3UX49
Predicted Effect probably benign
Transcript: ENSMUST00000053304
AA Change: F268I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: F268I

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 425 4e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107142
Predicted Effect probably benign
Transcript: ENSMUST00000107143
Predicted Effect probably benign
Transcript: ENSMUST00000134155
AA Change: F97I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably null
Transcript: ENSMUST00000156062
Meta Mutation Damage Score 0.3230 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 91% (53/58)
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 G A 15: 81,779,486 (GRCm39) A97T probably damaging Het
Acot9 T A X: 154,047,064 (GRCm39) L18* probably null Het
Arhgap12 A T 18: 6,111,774 (GRCm39) C69S probably damaging Het
Ccdc17 G T 4: 116,454,438 (GRCm39) probably benign Het
Ctnnd2 A C 15: 30,620,020 (GRCm39) D124A probably damaging Het
Cux1 T C 5: 136,341,847 (GRCm39) N424S probably damaging Het
Dhrs7c T C 11: 67,706,706 (GRCm39) F214S possibly damaging Het
Fat2 T C 11: 55,160,923 (GRCm39) D3269G possibly damaging Het
Fhod3 T A 18: 25,243,296 (GRCm39) probably null Het
Glul G T 1: 153,782,849 (GRCm39) G187* probably null Het
Gnmt ATTAGGGGATGGTCTTAGGG ATTAGGG 17: 47,036,662 (GRCm39) 294 probably benign Het
H2-Q7 A T 17: 35,658,506 (GRCm39) Y48F probably damaging Het
Hes3 T C 4: 152,371,542 (GRCm39) T136A probably benign Het
Krt40 T C 11: 99,433,900 (GRCm39) T29A possibly damaging Het
Lrrc37a C A 11: 103,392,624 (GRCm39) D934Y probably benign Het
Mctp2 T A 7: 71,833,599 (GRCm39) D581V probably damaging Het
Med27 T C 2: 29,361,354 (GRCm39) S38P probably damaging Het
Mff A G 1: 82,719,501 (GRCm39) probably benign Het
Mmadhc T C 2: 50,170,236 (GRCm39) K292R probably benign Het
Mmp24 A G 2: 155,655,908 (GRCm39) I449V possibly damaging Het
Mthfd1 G T 12: 76,361,764 (GRCm39) L123F probably damaging Het
Mug2 T A 6: 122,059,711 (GRCm39) L1363Q probably damaging Het
Myh4 T C 11: 67,142,578 (GRCm39) I913T probably damaging Het
Myo16 T A 8: 10,485,869 (GRCm39) N649K probably benign Het
Myo7b A G 18: 32,147,282 (GRCm39) I87T probably benign Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nup155 A G 15: 8,183,157 (GRCm39) D1239G possibly damaging Het
Or5b21 T C 19: 12,840,033 (GRCm39) V298A probably damaging Het
Or7e173 G C 9: 19,939,029 (GRCm39) N68K possibly damaging Het
Phf10 T A 17: 15,165,377 (GRCm39) N493I probably benign Het
Prr12 T C 7: 44,695,338 (GRCm39) E1376G unknown Het
Rasa3 T C 8: 13,664,587 (GRCm39) H75R probably benign Het
Rin3 G A 12: 102,335,939 (GRCm39) V537M probably damaging Het
Samd4 C T 14: 47,333,566 (GRCm39) T272I probably damaging Het
Septin5 C T 16: 18,442,142 (GRCm39) G257D probably damaging Het
Serpina6 T C 12: 103,620,326 (GRCm39) K141R probably benign Het
Siglecf T A 7: 43,001,700 (GRCm39) I170N possibly damaging Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Stk40 G A 4: 126,023,544 (GRCm39) probably null Het
Syne1 A G 10: 4,981,768 (GRCm39) S8700P probably benign Het
Tbc1d4 C T 14: 101,845,772 (GRCm39) G42E probably damaging Het
Tfap2c C T 2: 172,399,102 (GRCm39) Q425* probably null Het
Tmem255b T C 8: 13,505,998 (GRCm39) S202P probably damaging Het
Traf6 T C 2: 101,514,891 (GRCm39) S16P probably benign Het
Ttc12 A G 9: 49,383,705 (GRCm39) I66T probably damaging Het
Ttc21a G A 9: 119,787,885 (GRCm39) D818N possibly damaging Het
Zfp81 A T 17: 33,553,677 (GRCm39) I379N possibly damaging Het
Zgrf1 C A 3: 127,379,749 (GRCm39) S211* probably null Het
Other mutations in Pramel32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Pramel32 APN 4 88,547,307 (GRCm39) missense probably benign 0.43
IGL00229:Pramel32 APN 4 88,547,290 (GRCm39) missense probably damaging 0.99
IGL01938:Pramel32 APN 4 88,547,600 (GRCm39) missense possibly damaging 0.90
IGL02321:Pramel32 APN 4 88,548,340 (GRCm39) missense probably benign 0.33
IGL02351:Pramel32 APN 4 88,546,127 (GRCm39) missense probably damaging 1.00
IGL02358:Pramel32 APN 4 88,546,127 (GRCm39) missense probably damaging 1.00
P0005:Pramel32 UTSW 4 88,546,187 (GRCm39) missense probably damaging 1.00
R0521:Pramel32 UTSW 4 88,547,559 (GRCm39) missense probably damaging 0.96
R0578:Pramel32 UTSW 4 88,552,376 (GRCm39) missense probably benign 0.01
R0600:Pramel32 UTSW 4 88,547,536 (GRCm39) missense probably damaging 1.00
R0750:Pramel32 UTSW 4 88,545,905 (GRCm39) missense probably benign 0.01
R1483:Pramel32 UTSW 4 88,547,071 (GRCm39) missense probably damaging 1.00
R1502:Pramel32 UTSW 4 88,546,269 (GRCm39) missense probably benign 0.00
R1911:Pramel32 UTSW 4 88,548,309 (GRCm39) missense possibly damaging 0.93
R2204:Pramel32 UTSW 4 88,546,355 (GRCm39) missense probably damaging 0.99
R2507:Pramel32 UTSW 4 88,547,448 (GRCm39) missense possibly damaging 0.89
R2512:Pramel32 UTSW 4 88,547,195 (GRCm39) missense probably damaging 0.99
R4299:Pramel32 UTSW 4 88,546,419 (GRCm39) missense probably damaging 0.97
R4656:Pramel32 UTSW 4 88,548,202 (GRCm39) missense probably benign 0.41
R4787:Pramel32 UTSW 4 88,547,450 (GRCm39) nonsense probably null
R4823:Pramel32 UTSW 4 88,547,452 (GRCm39) missense probably damaging 1.00
R4885:Pramel32 UTSW 4 88,546,219 (GRCm39) missense possibly damaging 0.50
R4948:Pramel32 UTSW 4 88,547,185 (GRCm39) missense probably damaging 1.00
R4967:Pramel32 UTSW 4 88,547,432 (GRCm39) missense probably damaging 1.00
R5229:Pramel32 UTSW 4 88,548,372 (GRCm39) missense possibly damaging 0.92
R5426:Pramel32 UTSW 4 88,547,647 (GRCm39) intron probably benign
R5520:Pramel32 UTSW 4 88,548,277 (GRCm39) missense probably damaging 1.00
R5574:Pramel32 UTSW 4 88,546,280 (GRCm39) missense probably benign 0.10
R5596:Pramel32 UTSW 4 88,548,292 (GRCm39) missense probably damaging 1.00
R6282:Pramel32 UTSW 4 88,548,291 (GRCm39) missense probably damaging 1.00
R6366:Pramel32 UTSW 4 88,547,102 (GRCm39) missense probably damaging 0.99
R6808:Pramel32 UTSW 4 88,548,291 (GRCm39) missense probably damaging 1.00
R6866:Pramel32 UTSW 4 88,545,977 (GRCm39) missense probably damaging 1.00
R7105:Pramel32 UTSW 4 88,548,339 (GRCm39) missense probably damaging 0.98
R7117:Pramel32 UTSW 4 88,547,195 (GRCm39) missense probably damaging 0.99
R7319:Pramel32 UTSW 4 88,548,184 (GRCm39) missense probably benign 0.25
R7345:Pramel32 UTSW 4 88,546,416 (GRCm39) missense possibly damaging 0.88
R7399:Pramel32 UTSW 4 88,546,202 (GRCm39) missense probably benign 0.01
R7626:Pramel32 UTSW 4 88,548,279 (GRCm39) missense probably damaging 1.00
R7751:Pramel32 UTSW 4 88,547,356 (GRCm39) missense probably benign 0.05
R8044:Pramel32 UTSW 4 88,548,212 (GRCm39) missense possibly damaging 0.47
R8849:Pramel32 UTSW 4 88,546,014 (GRCm39) missense probably benign 0.03
R9334:Pramel32 UTSW 4 88,548,186 (GRCm39) missense probably damaging 0.99
R9515:Pramel32 UTSW 4 88,546,219 (GRCm39) missense possibly damaging 0.50
RF012:Pramel32 UTSW 4 88,546,006 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGCCAGACCATCAAGTACTC -3'
(R):5'- GCTGAGCAGAGAAAAGATTCCATTC -3'

Sequencing Primer
(F):5'- TCAAGTACTCCCTAGCTTGAGGAG -3'
(R):5'- CTGCAGATTCAGGGCTTATCCAAAG -3'
Posted On 2015-07-21