Incidental Mutation 'R7610:Pramel26'
ID 588540
Institutional Source Beutler Lab
Gene Symbol Pramel26
Ensembl Gene ENSMUSG00000059218
Gene Name PRAME like 26
Synonyms Gm13084
MMRRC Submission 045679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7610 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143535817-143542663 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143539436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 19 (M19K)
Ref Sequence ENSEMBL: ENSMUSP00000074557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075045] [ENSMUST00000105769]
AlphaFold A2A8N0
Predicted Effect probably damaging
Transcript: ENSMUST00000075045
AA Change: M19K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: M19K

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 409 9e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105769
AA Change: M19K

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: M19K

DomainStartEndE-ValueType
low complexity region 223 238 N/A INTRINSIC
Meta Mutation Damage Score 0.7103 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adtrp A G 13: 41,969,670 (GRCm39) F110L probably benign Het
Akap9 T G 5: 4,007,677 (GRCm39) D230E possibly damaging Het
Alg11 G A 8: 22,555,147 (GRCm39) R136H probably damaging Het
Ank3 A T 10: 69,822,252 (GRCm39) N307I Het
Ankrd17 A G 5: 90,380,222 (GRCm39) S2489P possibly damaging Het
Asf1b T G 8: 84,691,678 (GRCm39) I43S probably damaging Het
Cdc37l1 G T 19: 28,985,132 (GRCm39) G261W possibly damaging Het
Cpped1 C A 16: 11,712,742 (GRCm39) probably null Het
Ctsk T C 3: 95,408,155 (GRCm39) F4L probably benign Het
D130043K22Rik A T 13: 25,059,985 (GRCm39) T619S probably benign Het
Ddx25 T A 9: 35,465,893 (GRCm39) L109F possibly damaging Het
Dhrs9 C A 2: 69,223,291 (GRCm39) A13D unknown Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fam228a A G 12: 4,781,423 (GRCm39) probably null Het
Fancm T C 12: 65,152,454 (GRCm39) V970A probably damaging Het
Fcrl2 C A 3: 87,160,004 (GRCm39) V417F probably damaging Het
Fig4 C A 10: 41,129,709 (GRCm39) A504S probably damaging Het
Frmpd1 T C 4: 45,279,098 (GRCm39) S608P probably damaging Het
Ggta1 C T 2: 35,304,230 (GRCm39) probably null Het
Grb10 T C 11: 11,893,955 (GRCm39) K377R probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Klf14 A G 6: 30,935,005 (GRCm39) S210P probably damaging Het
Mcm3ap A G 10: 76,332,554 (GRCm39) probably null Het
Mgrn1 T C 16: 4,752,097 (GRCm39) *533Q probably null Het
Mtarc2 A G 1: 184,551,483 (GRCm39) Y318H probably benign Het
Notch1 A T 2: 26,368,191 (GRCm39) H598Q probably benign Het
Nt5el T A 13: 105,247,695 (GRCm39) N338K probably damaging Het
Ntng1 A G 3: 109,842,141 (GRCm39) S211P probably damaging Het
Or13a21 A T 7: 139,999,466 (GRCm39) C73* probably null Het
Or8i2 A G 2: 86,852,141 (GRCm39) V249A possibly damaging Het
Pgm5 A C 19: 24,812,120 (GRCm39) N137K probably damaging Het
Plcb2 T A 2: 118,550,240 (GRCm39) N172I possibly damaging Het
Rab11fip1 G A 8: 27,642,064 (GRCm39) H912Y probably benign Het
Rgl1 A G 1: 152,428,371 (GRCm39) V251A probably damaging Het
Rgs6 T C 12: 83,138,553 (GRCm39) Y296H probably damaging Het
Rhpn1 A G 15: 75,584,245 (GRCm39) T446A unknown Het
Rtn3 A G 19: 7,435,294 (GRCm39) S233P probably damaging Het
Rwdd1 A C 10: 33,877,134 (GRCm39) D203E probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Slfn5 T C 11: 82,852,310 (GRCm39) L812P probably damaging Het
Smc1b T C 15: 84,955,021 (GRCm39) D1077G possibly damaging Het
Snrnp48 A G 13: 38,393,937 (GRCm39) R81G probably damaging Het
Syt17 A T 7: 118,033,682 (GRCm39) probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Ttc3 T C 16: 94,228,697 (GRCm39) I757T probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Wdr54 C T 6: 83,129,839 (GRCm39) V305M possibly damaging Het
Xirp2 C T 2: 67,356,306 (GRCm39) T3689I possibly damaging Het
Zscan18 T C 7: 12,503,237 (GRCm39) K774R probably 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
R0597:Pramel26 UTSW 4 143,539,222 (GRCm39) missense probably damaging 0.98
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
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'- ACACAGGTATCATGGCGGTC -3'
(R):5'- GGATTAGACATATTATGGTGGCAC -3'

Sequencing Primer
(F):5'- ATCATGGCGGTCAAGATCTTTGTAC -3'
(R):5'- CCAGGCCAGTGTGTTCTATAAGTAAG -3'
Posted On 2019-10-24