Incidental Mutation 'R7685:Pramel11'
ID 592991
Institutional Source Beutler Lab
Gene Symbol Pramel11
Ensembl Gene ENSMUSG00000078512
Gene Name PRAME like 11
Synonyms Gm13099, Pramef6
MMRRC Submission 045750-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7685 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143620807-143626950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143624371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 42 (D42V)
Ref Sequence ENSEMBL: ENSMUSP00000101393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081645] [ENSMUST00000105767]
AlphaFold A2A8M8
Predicted Effect possibly damaging
Transcript: ENSMUST00000081645
AA Change: D42V

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: D42V

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 6e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105767
AA Change: D42V

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: D42V

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 1e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,116,081 (GRCm39) L251S probably damaging Het
Acsbg1 C T 9: 54,535,843 (GRCm39) S53N unknown Het
Adamts18 A G 8: 114,439,855 (GRCm39) C913R probably damaging Het
Adck5 C A 15: 76,479,588 (GRCm39) Y524* probably null Het
Adgrv1 G T 13: 81,251,443 (GRCm39) Q6225K possibly damaging Het
Ahr T C 12: 35,554,016 (GRCm39) N701S probably damaging Het
Apc T C 18: 34,447,261 (GRCm39) C1386R probably damaging Het
Bbs1 A G 19: 4,956,182 (GRCm39) S38P probably benign Het
Celsr1 G T 15: 85,862,933 (GRCm39) C1366* probably null Het
Cep290 A C 10: 100,375,919 (GRCm39) H1424P probably benign Het
Clcn3 C T 8: 61,386,119 (GRCm39) R311K possibly damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Dhx9 A G 1: 153,334,152 (GRCm39) Y1002H probably damaging Het
Dnah8 C T 17: 30,876,947 (GRCm39) T533I probably damaging Het
Ermard T C 17: 15,279,724 (GRCm39) S505P probably benign Het
Fbxw17 G A 13: 50,579,680 (GRCm39) D166N probably damaging Het
Fmo3 T C 1: 162,785,901 (GRCm39) K363R possibly damaging Het
Frey1 C A 2: 92,213,817 (GRCm39) P68Q probably damaging Het
Gadd45gip1 A T 8: 85,558,980 (GRCm39) R21W probably damaging Het
Galnt4 A G 10: 98,945,826 (GRCm39) N517S probably benign Het
Ganc T A 2: 120,264,273 (GRCm39) W409R probably damaging Het
Glrx3 T C 7: 137,060,920 (GRCm39) S185P probably damaging Het
Gm49368 T C 7: 127,712,414 (GRCm39) S853P probably damaging Het
Gtf3c2 A C 5: 31,325,611 (GRCm39) L443V probably damaging Het
Gxylt2 A T 6: 100,781,489 (GRCm39) Q388L probably benign Het
Hcar2 C T 5: 124,003,396 (GRCm39) V36M possibly damaging Het
Ifit3b A T 19: 34,589,955 (GRCm39) D377V possibly damaging Het
Ints5 A G 19: 8,874,168 (GRCm39) D709G probably benign Het
Lyst A G 13: 13,844,450 (GRCm39) E1880G probably benign Het
Mep1a C T 17: 43,790,065 (GRCm39) S428N probably benign Het
Mllt6 T C 11: 97,567,790 (GRCm39) L739P probably damaging Het
Mlst8 T C 17: 24,695,031 (GRCm39) Y284C probably damaging Het
Mmel1 T C 4: 154,956,111 (GRCm39) M1T probably null Het
Muc5ac C T 7: 141,363,120 (GRCm39) P2144S unknown Het
Myh4 T C 11: 67,131,756 (GRCm39) V72A probably benign Het
Naa15 T A 3: 51,377,395 (GRCm39) probably null Het
Nlrc5 A G 8: 95,248,028 (GRCm39) probably null Het
Nme8 T A 13: 19,835,145 (GRCm39) M514L probably benign Het
Nudt9 C A 5: 104,194,946 (GRCm39) S14* probably null Het
Optn G A 2: 5,059,461 (GRCm39) T19I probably benign Het
Or11h23 A T 14: 50,948,215 (GRCm39) I143F possibly damaging Het
Or13a24 T C 7: 140,154,159 (GRCm39) F31S probably damaging Het
Osbpl8 T A 10: 111,112,370 (GRCm39) L495* probably null Het
Panx2 T C 15: 88,951,973 (GRCm39) S147P possibly damaging Het
Pclo T A 5: 14,730,630 (GRCm39) V3044D unknown Het
Pcnt T C 10: 76,258,642 (GRCm39) K608E probably benign Het
Pde7a T A 3: 19,281,909 (GRCm39) N447I probably damaging Het
Peli2 G T 14: 48,517,491 (GRCm39) C186F not run Het
Pgm5 A G 19: 24,705,215 (GRCm39) F433L probably benign Het
Plce1 G A 19: 38,736,877 (GRCm39) V1588I probably benign Het
Plin4 T A 17: 56,409,413 (GRCm39) H1295L probably benign Het
Poli T C 18: 70,658,590 (GRCm39) E134G probably benign Het
Ptprq T A 10: 107,479,839 (GRCm39) I1144F probably damaging Het
Ptprz1 A T 6: 23,024,977 (GRCm39) T1738S probably damaging Het
Pxdc1 A G 13: 34,836,267 (GRCm39) L51P probably damaging Het
Rabepk C T 2: 34,669,308 (GRCm39) G362S probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rhd T A 4: 134,611,820 (GRCm39) probably null Het
Rpp14 T C 14: 8,090,453 (GRCm38) S126P probably damaging Het
Scn7a C T 2: 66,506,536 (GRCm39) C1451Y probably damaging Het
Sdr39u1 G A 14: 56,135,191 (GRCm39) R251* probably null Het
Sephs2 G T 7: 126,872,506 (GRCm39) P196T possibly damaging Het
Slc22a16 T C 10: 40,450,085 (GRCm39) Y195H possibly damaging Het
Spg11 C A 2: 121,899,361 (GRCm39) V1575F probably damaging Het
Sqle C T 15: 59,187,890 (GRCm39) S66L probably benign Het
Tas2r124 T G 6: 132,732,056 (GRCm39) W122G probably damaging Het
Tex52 A T 6: 128,361,921 (GRCm39) probably null Het
Thoc1 T A 18: 9,993,454 (GRCm39) C604* probably null Het
Tmc3 T C 7: 83,246,666 (GRCm39) S136P probably damaging Het
Tmem212 T A 3: 27,950,462 (GRCm39) T11S probably benign Het
Ubn2 A G 6: 38,468,727 (GRCm39) N1147S probably benign Het
Uggt2 A G 14: 119,312,759 (GRCm39) I350T probably damaging Het
Ust A T 10: 8,083,339 (GRCm39) Y346N probably damaging Het
Vwa8 A G 14: 79,335,740 (GRCm39) T1399A probably benign Het
Zc3h18 G A 8: 123,140,615 (GRCm39) R850Q unknown Het
Zfp800 C A 6: 28,244,193 (GRCm39) K257N probably damaging Het
Zfp985 T A 4: 147,667,331 (GRCm39) D66E probably benign Het
Other mutations in Pramel11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Pramel11 APN 4 143,622,201 (GRCm39) missense probably benign
IGL01917:Pramel11 APN 4 143,624,284 (GRCm39) missense probably benign 0.15
IGL02222:Pramel11 APN 4 143,622,416 (GRCm39) missense possibly damaging 0.94
IGL02315:Pramel11 APN 4 143,624,498 (GRCm39) start gained probably benign
R0488:Pramel11 UTSW 4 143,621,973 (GRCm39) missense probably benign 0.00
R0755:Pramel11 UTSW 4 143,624,299 (GRCm39) missense probably damaging 0.96
R0972:Pramel11 UTSW 4 143,623,533 (GRCm39) missense probably benign 0.02
R1444:Pramel11 UTSW 4 143,623,461 (GRCm39) missense probably benign 0.01
R1551:Pramel11 UTSW 4 143,622,263 (GRCm39) missense probably benign 0.00
R1907:Pramel11 UTSW 4 143,622,061 (GRCm39) missense possibly damaging 0.89
R2068:Pramel11 UTSW 4 143,623,482 (GRCm39) missense probably damaging 1.00
R2182:Pramel11 UTSW 4 143,623,760 (GRCm39) missense possibly damaging 0.60
R2246:Pramel11 UTSW 4 143,623,790 (GRCm39) missense probably benign 0.19
R4483:Pramel11 UTSW 4 143,622,410 (GRCm39) missense probably damaging 1.00
R5123:Pramel11 UTSW 4 143,623,706 (GRCm39) missense probably benign 0.00
R5291:Pramel11 UTSW 4 143,622,237 (GRCm39) missense probably damaging 1.00
R5643:Pramel11 UTSW 4 143,622,337 (GRCm39) missense probably damaging 0.98
R5683:Pramel11 UTSW 4 143,622,423 (GRCm39) missense probably damaging 1.00
R5836:Pramel11 UTSW 4 143,623,490 (GRCm39) missense probably benign 0.30
R5837:Pramel11 UTSW 4 143,623,490 (GRCm39) missense probably benign 0.30
R5838:Pramel11 UTSW 4 143,623,490 (GRCm39) missense probably benign 0.30
R5853:Pramel11 UTSW 4 143,623,490 (GRCm39) missense probably benign 0.30
R6340:Pramel11 UTSW 4 143,623,877 (GRCm39) missense possibly damaging 0.69
R6572:Pramel11 UTSW 4 143,621,943 (GRCm39) missense possibly damaging 0.79
R6791:Pramel11 UTSW 4 143,622,252 (GRCm39) missense probably benign 0.02
R6972:Pramel11 UTSW 4 143,623,472 (GRCm39) missense probably damaging 1.00
R7265:Pramel11 UTSW 4 143,621,991 (GRCm39) missense probably benign 0.00
R7307:Pramel11 UTSW 4 143,623,345 (GRCm39) nonsense probably null
R7342:Pramel11 UTSW 4 143,623,520 (GRCm39) missense probably benign 0.26
R7361:Pramel11 UTSW 4 143,622,456 (GRCm39) missense possibly damaging 0.88
R7480:Pramel11 UTSW 4 143,622,065 (GRCm39) missense probably benign
R7861:Pramel11 UTSW 4 143,624,288 (GRCm39) missense possibly damaging 0.75
R8699:Pramel11 UTSW 4 143,623,762 (GRCm39) missense probably benign 0.31
R8981:Pramel11 UTSW 4 143,623,646 (GRCm39) missense probably benign 0.25
R9100:Pramel11 UTSW 4 143,623,646 (GRCm39) missense probably benign 0.25
R9101:Pramel11 UTSW 4 143,623,646 (GRCm39) missense probably benign 0.25
R9103:Pramel11 UTSW 4 143,624,381 (GRCm39) missense probably damaging 1.00
R9112:Pramel11 UTSW 4 143,623,334 (GRCm39) missense possibly damaging 0.77
R9198:Pramel11 UTSW 4 143,623,646 (GRCm39) missense probably benign 0.25
R9202:Pramel11 UTSW 4 143,623,646 (GRCm39) missense probably benign 0.25
R9203:Pramel11 UTSW 4 143,623,646 (GRCm39) missense probably benign 0.25
R9473:Pramel11 UTSW 4 143,620,815 (GRCm39) missense probably benign 0.00
R9646:Pramel11 UTSW 4 143,623,634 (GRCm39) missense probably damaging 1.00
Z1176:Pramel11 UTSW 4 143,622,254 (GRCm39) missense probably damaging 1.00
Z1177:Pramel11 UTSW 4 143,623,769 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- ACTCACATACCTAGGTCGATCC -3'
(R):5'- TGTCACCAGACCAGTGATTG -3'

Sequencing Primer
(F):5'- ATACCTAGGTCGATCCTTTTGTGAC -3'
(R):5'- GAAGCCTTGACCATCTCT -3'
Posted On 2019-11-12