Incidental Mutation 'R4656:Pramel32'
ID 352416
Institutional Source Beutler Lab
Gene Symbol Pramel32
Ensembl Gene ENSMUSG00000038330
Gene Name PRAME like 32
Synonyms C87499
MMRRC Submission 041916-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.394) question?
Stock # R4656 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 88545557-88552423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88548202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 68 (T68A)
Ref Sequence ENSEMBL: ENSMUSP00000102760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053304] [ENSMUST00000107142] [ENSMUST00000107143] [ENSMUST00000134155] [ENSMUST00000156062]
AlphaFold Q3UX49
Predicted Effect probably benign
Transcript: ENSMUST00000053304
AA Change: T68A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: T68A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 425 4e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107142
AA Change: T68A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000107143
AA Change: T68A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000134155
Predicted Effect probably benign
Transcript: ENSMUST00000156062
Meta Mutation Damage Score 0.0774 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (80/83)
Allele List at MGI

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

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 88,112,534 (GRCm39) probably benign Het
4931406B18Rik T A 7: 43,150,565 (GRCm39) H69L probably benign Het
Ace2 T C X: 162,936,110 (GRCm39) S84P probably benign Het
Adgb A C 10: 10,281,050 (GRCm39) N656K probably damaging Het
Ago3 G T 4: 126,257,545 (GRCm39) Y495* probably null Het
Ahnak G A 19: 8,982,219 (GRCm39) V1168M possibly damaging Het
Armc10 A G 5: 21,866,548 (GRCm39) R271G probably benign Het
Atp4a T G 7: 30,419,373 (GRCm39) probably benign Het
Casp1 C T 9: 5,304,324 (GRCm39) P333S probably damaging Het
Ceacam9 C T 7: 16,457,574 (GRCm39) A34V probably benign Het
Ces1b C G 8: 93,784,042 (GRCm39) E488Q probably damaging Het
Ces2h A T 8: 105,741,271 (GRCm39) T88S possibly damaging Het
Cfap410 G A 10: 77,817,450 (GRCm39) R59H probably benign Het
Col2a1 C T 15: 97,874,057 (GRCm39) G1375D unknown Het
Cyp1a1 T C 9: 57,609,893 (GRCm39) F436L probably damaging Het
Dcaf7 T C 11: 105,944,624 (GRCm39) V269A probably damaging Het
Disp2 T C 2: 118,621,044 (GRCm39) L592P probably damaging Het
Eda2r T A X: 96,385,239 (GRCm39) Q171L probably damaging Het
Egln2 A G 7: 26,858,618 (GRCm39) V408A probably benign Het
Gabpb2 A G 3: 95,096,252 (GRCm39) L325P probably damaging Het
Gigyf1 C A 5: 137,523,477 (GRCm39) Y936* probably null Het
Gm14149 A T 2: 151,072,684 (GRCm39) noncoding transcript Het
Gnl2 C T 4: 124,934,790 (GRCm39) Q149* probably null Het
Gpr107 C T 2: 31,104,261 (GRCm39) T522M probably damaging Het
Grpr T A X: 162,297,992 (GRCm39) S351C probably damaging Het
Gsdma T C 11: 98,563,907 (GRCm39) L287P probably damaging Het
Herc1 A G 9: 66,301,993 (GRCm39) T652A probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Irx2 T C 13: 72,779,417 (GRCm39) S234P probably damaging Het
Itgal T A 7: 126,921,725 (GRCm39) D808E probably damaging Het
Krt13 C A 11: 100,010,189 (GRCm39) R264L probably damaging Het
Marchf1 T A 8: 66,839,071 (GRCm39) L38I probably benign Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Mif4gd G T 11: 115,499,163 (GRCm39) probably benign Het
Mroh9 A T 1: 162,893,593 (GRCm39) M194K probably damaging Het
Nhlrc3 A G 3: 53,370,501 (GRCm39) S22P probably damaging Het
Nipal2 A T 15: 34,577,714 (GRCm39) probably null Het
Nr1h4 A G 10: 89,334,115 (GRCm39) S78P probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Olfr908 A T 9: 38,427,852 (GRCm39) N175Y probably damaging Het
Or1e30 A T 11: 73,678,337 (GRCm39) D191V probably damaging Het
Or52d13 C T 7: 103,109,695 (GRCm39) R235Q probably benign Het
Pdzd2 A G 15: 12,385,797 (GRCm39) V991A probably benign Het
Pex1 G A 5: 3,654,880 (GRCm39) probably null Het
Plch1 G T 3: 63,611,598 (GRCm39) A859E probably damaging Het
Ranbp2 A G 10: 58,289,244 (GRCm39) K84R possibly damaging Het
Rbm14 T C 19: 4,861,463 (GRCm39) Y25C probably damaging Het
Rmi2 A G 16: 10,653,186 (GRCm39) D78G probably damaging Het
Serpina3k C A 12: 104,311,532 (GRCm39) T370K probably damaging Het
Shc2 A T 10: 79,457,003 (GRCm39) L538M probably damaging Het
Skint1 A G 4: 111,878,674 (GRCm39) K202R probably damaging Het
Slc22a29 C A 19: 8,195,664 (GRCm39) S125I possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slco4c1 A T 1: 96,768,970 (GRCm39) D297E probably benign Het
Slco6d1 T C 1: 98,350,928 (GRCm39) F136S probably benign Het
Smg1 A T 7: 117,812,174 (GRCm39) V39E probably benign Het
Spns1 G T 7: 125,973,474 (GRCm39) probably benign Het
Spsb1 A G 4: 149,990,867 (GRCm39) probably null Het
Sspo T G 6: 48,431,010 (GRCm39) I631S possibly damaging Het
Syne2 T C 12: 76,078,147 (GRCm39) L4694P probably damaging Het
Taf5l T C 8: 124,724,844 (GRCm39) E325G probably benign Het
Tars1 A T 15: 11,394,350 (GRCm39) S96T probably damaging Het
Tdrd12 T C 7: 35,184,679 (GRCm39) K745E probably damaging Het
Tenm3 A G 8: 48,746,761 (GRCm39) Y1015H probably damaging Het
Trpv3 T A 11: 73,186,240 (GRCm39) M677K probably damaging Het
Txlnb A T 10: 17,691,024 (GRCm39) K191N probably damaging Het
Ubr1 A G 2: 120,756,494 (GRCm39) V711A probably benign Het
Uqcrb T C 13: 67,049,603 (GRCm39) T41A probably benign Het
Usp6nl A G 2: 6,445,973 (GRCm39) Y627C probably damaging Het
Vezf1 A G 11: 87,965,493 (GRCm39) D245G probably damaging Het
Vmn2r66 A G 7: 84,661,204 (GRCm39) W9R possibly damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Wdr35 T A 12: 9,066,619 (GRCm39) M749K probably benign Het
Wrn A T 8: 33,826,019 (GRCm39) probably null Het
Zfy1 T G Y: 729,626 (GRCm39) T339P unknown 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
R4498:Pramel32 UTSW 4 88,547,129 (GRCm39) splice site probably null
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'- TCTCAGCACCTAGAGAACCTTTC -3'
(R):5'- GCAGAAGGGCTTCCTATGTTTC -3'

Sequencing Primer
(F):5'- AGAACCTTTCTCCACCCTACCTG -3'
(R):5'- TCCCTAGCATGACTCTTTAGAAG -3'
Posted On 2015-10-08