Incidental Mutation 'R0597:Pramel26'
ID 55109
Institutional Source Beutler Lab
Gene Symbol Pramel26
Ensembl Gene ENSMUSG00000059218
Gene Name PRAME like 26
Synonyms Gm13084
MMRRC Submission 038786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0597 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143535817-143542663 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 143539222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 90 (N90K)
Ref Sequence ENSEMBL: ENSMUSP00000101395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075045] [ENSMUST00000105769]
AlphaFold A2A8N0
Predicted Effect probably benign
Transcript: ENSMUST00000075045
AA Change: N90K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: N90K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 409 9e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105769
AA Change: N90K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: N90K

DomainStartEndE-ValueType
low complexity region 223 238 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137635
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 97% (71/73)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,352,631 (GRCm39) probably null Het
Anxa11 T C 14: 25,874,652 (GRCm39) I221T probably damaging Het
Arhgap33 C G 7: 30,225,871 (GRCm39) R565P probably damaging Het
Bmpr2 T C 1: 59,880,584 (GRCm39) probably benign Het
Btn2a2 T A 13: 23,670,580 (GRCm39) H51L probably benign Het
Casz1 T C 4: 149,028,851 (GRCm39) S1099P probably benign Het
Cnot4 A G 6: 35,028,438 (GRCm39) S393P possibly damaging Het
Cntnap5a T C 1: 116,112,191 (GRCm39) probably benign Het
Cobl T C 11: 12,204,699 (GRCm39) T586A probably benign Het
Crocc T C 4: 140,747,224 (GRCm39) K1528R probably benign Het
Crocc A G 4: 140,744,382 (GRCm39) L1838P probably benign Het
Dact2 A G 17: 14,417,303 (GRCm39) V299A probably benign Het
Dapk1 C A 13: 60,909,198 (GRCm39) N1270K probably benign Het
Ddx41 T C 13: 55,680,819 (GRCm39) Y375C probably damaging Het
Dock5 T A 14: 68,022,383 (GRCm39) probably null Het
Dyrk4 T G 6: 126,863,612 (GRCm39) probably null Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam210b A G 2: 172,187,773 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,819,712 (GRCm39) I229T probably benign Het
Fbxo39 A G 11: 72,207,747 (GRCm39) D33G probably damaging Het
Fbxw11 A G 11: 32,670,496 (GRCm39) E120G probably damaging Het
Fbxw2 A T 2: 34,701,032 (GRCm39) L261Q probably damaging Het
Gm5800 A C 14: 51,953,461 (GRCm39) N51K probably benign Het
Gm6899 A G 11: 26,543,768 (GRCm39) probably benign Het
Gpx8 T C 13: 113,182,035 (GRCm39) T133A possibly damaging Het
Grin3a C T 4: 49,665,351 (GRCm39) V1095M probably damaging Het
Grip2 T C 6: 91,773,178 (GRCm39) probably benign Het
Hacd4 A G 4: 88,355,757 (GRCm39) F43L probably damaging Het
Hif1a T G 12: 73,989,049 (GRCm39) S645R probably benign Het
Hipk3 A G 2: 104,263,982 (GRCm39) S839P possibly damaging Het
Idi2l C A 13: 8,990,802 (GRCm39) probably benign Het
Il16 A T 7: 83,327,183 (GRCm39) probably benign Het
Il3ra T A 14: 14,351,166 (GRCm38) probably null Het
Il5ra A G 6: 106,721,296 (GRCm39) M1T probably null Het
Klra2 G A 6: 131,197,148 (GRCm39) R251C probably benign Het
Lamc2 C T 1: 153,009,367 (GRCm39) V813M probably benign Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lrp5 T C 19: 3,650,777 (GRCm39) D1219G possibly damaging Het
Map3k6 C T 4: 132,972,863 (GRCm39) P341S possibly damaging Het
Mcts2 A G 2: 152,529,609 (GRCm39) E140G probably benign Het
Med1 T C 11: 98,060,264 (GRCm39) M222V probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Muc19 A T 15: 91,784,696 (GRCm39) noncoding transcript Het
Nr1h2 A G 7: 44,201,684 (GRCm39) probably benign Het
Or13j1 A T 4: 43,706,592 (GRCm39) probably null Het
Or2w6 C A 13: 21,843,316 (GRCm39) R59L probably damaging Het
Or56a42-ps1 A G 7: 104,777,425 (GRCm39) V73A possibly damaging Het
Or5ac23 A T 16: 59,149,123 (GRCm39) F250I probably damaging Het
P4hb G A 11: 120,459,070 (GRCm39) T141I possibly damaging Het
Polr3a A G 14: 24,534,202 (GRCm39) V101A probably benign Het
Pou4f2 A G 8: 79,161,869 (GRCm39) S245P probably benign Het
Rnpep A G 1: 135,200,157 (GRCm39) V266A probably damaging Het
Scly G A 1: 91,237,555 (GRCm39) G206R probably damaging Het
Sec14l3 A T 11: 4,024,814 (GRCm39) K254N probably damaging Het
Sgpp1 A T 12: 75,781,874 (GRCm39) I155N probably damaging Het
Slc22a14 A G 9: 119,001,190 (GRCm39) L468P probably damaging Het
Slc22a27 A G 19: 7,843,249 (GRCm39) F377L probably benign Het
Slc44a3 T C 3: 121,253,719 (GRCm39) I625V probably benign Het
Slc47a2 A T 11: 61,200,802 (GRCm39) I373N probably damaging Het
Slfn10-ps A T 11: 82,926,479 (GRCm39) noncoding transcript Het
Smarcd1 T A 15: 99,608,975 (GRCm39) I383N probably damaging Het
Sort1 A G 3: 108,246,226 (GRCm39) D401G probably damaging Het
Sprr2a3 G T 3: 92,195,897 (GRCm39) M1I probably null Het
Sycp2 A C 2: 177,998,373 (GRCm39) V1049G possibly damaging Het
Tecrl T A 5: 83,502,775 (GRCm39) K10* probably null Het
Tnpo3 A T 6: 29,578,564 (GRCm39) C303* probably null Het
Vmn2r23 A G 6: 123,706,680 (GRCm39) I503M probably benign Het
Zbtb8os T A 4: 129,240,670 (GRCm39) I164N probably damaging Het
Zfp292 T C 4: 34,807,399 (GRCm39) N1882D probably benign Het
Zfp91 T C 19: 12,747,459 (GRCm39) I555V possibly damaging Het
Other mutations in Pramel26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Pramel26 APN 4 143,539,293 (GRCm39) missense probably benign 0.32
IGL01075:Pramel26 APN 4 143,538,216 (GRCm39) missense possibly damaging 0.47
IGL02705:Pramel26 APN 4 143,537,372 (GRCm39) missense probably damaging 1.00
IGL03011:Pramel26 APN 4 143,538,330 (GRCm39) missense possibly damaging 0.95
PIT4498001:Pramel26 UTSW 4 143,539,406 (GRCm39) missense possibly damaging 0.63
R0268:Pramel26 UTSW 4 143,537,338 (GRCm39) missense probably damaging 1.00
R0344:Pramel26 UTSW 4 143,537,338 (GRCm39) missense probably damaging 1.00
R0390:Pramel26 UTSW 4 143,538,269 (GRCm39) missense probably benign 0.09
R0646:Pramel26 UTSW 4 143,539,155 (GRCm39) missense possibly damaging 0.83
R0927:Pramel26 UTSW 4 143,539,378 (GRCm39) missense probably benign 0.05
R0973:Pramel26 UTSW 4 143,538,428 (GRCm39) missense probably damaging 1.00
R1851:Pramel26 UTSW 4 143,539,396 (GRCm39) missense probably benign 0.33
R1852:Pramel26 UTSW 4 143,539,396 (GRCm39) missense probably benign 0.33
R3699:Pramel26 UTSW 4 143,536,922 (GRCm39) missense probably benign 0.05
R3705:Pramel26 UTSW 4 143,538,345 (GRCm39) missense probably benign 0.06
R3845:Pramel26 UTSW 4 143,538,545 (GRCm39) missense probably damaging 0.96
R4035:Pramel26 UTSW 4 143,537,026 (GRCm39) missense probably benign 0.08
R4044:Pramel26 UTSW 4 143,538,170 (GRCm39) missense probably benign 0.34
R4439:Pramel26 UTSW 4 143,538,143 (GRCm39) missense possibly damaging 0.49
R4660:Pramel26 UTSW 4 143,538,435 (GRCm39) missense probably benign 0.19
R4770:Pramel26 UTSW 4 143,538,519 (GRCm39) missense probably damaging 0.96
R4838:Pramel26 UTSW 4 143,537,375 (GRCm39) nonsense probably null
R5534:Pramel26 UTSW 4 143,539,169 (GRCm39) nonsense probably null
R5691:Pramel26 UTSW 4 143,538,579 (GRCm39) missense probably benign 0.44
R5893:Pramel26 UTSW 4 143,537,038 (GRCm39) missense probably damaging 1.00
R6123:Pramel26 UTSW 4 143,539,334 (GRCm39) missense possibly damaging 0.89
R6285:Pramel26 UTSW 4 143,542,609 (GRCm39) missense probably damaging 1.00
R6886:Pramel26 UTSW 4 143,539,332 (GRCm39) missense probably benign 0.29
R7105:Pramel26 UTSW 4 143,537,341 (GRCm39) missense probably benign 0.04
R7135:Pramel26 UTSW 4 143,537,233 (GRCm39) missense probably damaging 1.00
R7474:Pramel26 UTSW 4 143,538,269 (GRCm39) missense probably benign 0.03
R7594:Pramel26 UTSW 4 143,539,286 (GRCm39) missense probably damaging 0.99
R7610:Pramel26 UTSW 4 143,539,436 (GRCm39) missense probably damaging 1.00
R7635:Pramel26 UTSW 4 143,536,987 (GRCm39) missense probably damaging 1.00
R7682:Pramel26 UTSW 4 143,537,290 (GRCm39) missense probably benign 0.38
R7986:Pramel26 UTSW 4 143,538,590 (GRCm39) nonsense probably null
R8222:Pramel26 UTSW 4 143,536,893 (GRCm39) missense possibly damaging 0.61
R8328:Pramel26 UTSW 4 143,537,380 (GRCm39) missense probably damaging 1.00
R8678:Pramel26 UTSW 4 143,538,576 (GRCm39) missense probably benign 0.21
R8887:Pramel26 UTSW 4 143,539,257 (GRCm39) missense probably damaging 0.99
R8942:Pramel26 UTSW 4 143,536,861 (GRCm39) missense probably benign 0.00
R9219:Pramel26 UTSW 4 143,537,303 (GRCm39) missense probably benign 0.02
R9291:Pramel26 UTSW 4 143,539,251 (GRCm39) missense probably benign 0.13
R9649:Pramel26 UTSW 4 143,542,609 (GRCm39) missense probably damaging 1.00
R9746:Pramel26 UTSW 4 143,536,886 (GRCm39) missense probably benign 0.24
Z1177:Pramel26 UTSW 4 143,538,588 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- GCCAAGACTGTTCTCAAGCCTCTG -3'
(R):5'- GCCATTTCTGCTCTCAAGGACCTG -3'

Sequencing Primer
(F):5'- AATTGAAATCAGAAGCCTCTGATCC -3'
(R):5'- GCCCAATATGATGTTCCCAGTG -3'
Posted On 2013-07-11