Incidental Mutation 'R9797:Pramel27'
ID 734984
Institutional Source Beutler Lab
Gene Symbol Pramel27
Ensembl Gene ENSMUSG00000029451
Gene Name PRAME like 27
Synonyms Gm13103
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R9797 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 143573067-143580207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143579818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 468 (T468A)
Ref Sequence ENSEMBL: ENSMUSP00000092099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094522] [ENSMUST00000105768] [ENSMUST00000139747]
AlphaFold Q4VAD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000094522
AA Change: T468A

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: T468A

DomainStartEndE-ValueType
low complexity region 403 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105768
Predicted Effect probably benign
Transcript: ENSMUST00000139747
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b A G 5: 26,054,895 (GRCm39) Y403C probably benign Het
Afdn A G 17: 14,066,562 (GRCm39) I600V probably benign Het
Akr1b8 G A 6: 34,333,278 (GRCm39) E52K possibly damaging Het
Alas1 A G 9: 106,113,842 (GRCm39) S468P probably damaging Het
Atp13a5 T C 16: 29,133,491 (GRCm39) T432A probably benign Het
B3glct A T 5: 149,650,304 (GRCm39) T136S probably benign Het
Bahcc1 A T 11: 120,159,147 (GRCm39) R125* probably null Het
Brat1 A G 5: 140,704,273 (GRCm39) E842G probably damaging Het
Cacna1b A G 2: 24,508,287 (GRCm39) L1830S probably damaging Het
Cd109 A G 9: 78,579,217 (GRCm39) N620D probably benign Het
Cdhr1 T A 14: 36,803,462 (GRCm39) D538V probably damaging Het
Cfap74 G A 4: 155,514,402 (GRCm39) C546Y Het
Colq T A 14: 31,250,777 (GRCm39) R343* probably null Het
Dmxl2 T C 9: 54,358,187 (GRCm39) K330R probably benign Het
Dnah5 A G 15: 28,233,316 (GRCm39) K225R probably benign Het
Dnase1l3 C T 14: 7,984,127 (GRCm38) S95N probably damaging Het
Fyco1 C A 9: 123,626,761 (GRCm39) A1317S probably benign Het
Gm9195 G A 14: 72,687,705 (GRCm39) P1944L probably damaging Het
Gse1 T G 8: 121,215,864 (GRCm39) L4R probably damaging Het
Gstm1 T C 3: 107,925,080 (GRCm39) I4M probably benign Het
Ighv2-3 A T 12: 113,574,945 (GRCm39) I70K possibly damaging Het
Krt71 C T 15: 101,645,069 (GRCm39) R414H probably damaging Het
Mcmbp T C 7: 128,317,696 (GRCm39) E183G possibly damaging Het
Med13l T C 5: 118,880,144 (GRCm39) S1079P probably damaging Het
Megf11 A G 9: 64,545,591 (GRCm39) I125V possibly damaging Het
Mtmr4 T A 11: 87,494,962 (GRCm39) V418E probably damaging Het
Mttp T C 3: 137,814,725 (GRCm39) T517A probably damaging Het
Mx1 A G 16: 97,252,893 (GRCm39) V409A probably benign Het
Olfml1 C A 7: 107,167,069 (GRCm39) H33N probably benign Het
Or13p8 A C 4: 118,584,079 (GRCm39) I212L probably benign Het
Or4k15b A T 14: 50,272,224 (GRCm39) V212D probably benign Het
Or5w19 A T 2: 87,698,478 (GRCm39) I48F possibly damaging Het
Or6k2 T C 1: 173,986,417 (GRCm39) I26T probably benign Het
Or6n1 T A 1: 173,917,356 (GRCm39) I250N possibly damaging Het
Parp12 C A 6: 39,067,185 (GRCm39) V536F probably damaging Het
Phf11a T C 14: 59,514,862 (GRCm39) E273G possibly damaging Het
Psd3 A G 8: 68,210,778 (GRCm39) Y743H probably damaging Het
Rnf213 T A 11: 119,333,365 (GRCm39) I2859N Het
Sec23a A T 12: 59,052,060 (GRCm39) C88* probably null Het
Sepsecs A G 5: 52,826,239 (GRCm39) probably null Het
Slc35e3 G A 10: 117,572,016 (GRCm39) T293I probably benign Het
Slc49a3 G T 5: 108,593,403 (GRCm39) T145N probably benign Het
Smu1 A G 4: 40,739,538 (GRCm39) I424T possibly damaging Het
Spata16 T A 3: 26,968,925 (GRCm39) I435N probably damaging Het
Tasp1 A G 2: 139,838,015 (GRCm39) S156P probably benign Het
Tmem237 A C 1: 59,144,735 (GRCm39) S398A probably damaging Het
Ttc39c T A 18: 12,828,542 (GRCm39) L234Q probably damaging Het
Ubxn11 C A 4: 133,851,426 (GRCm39) T22K probably benign Het
Uts2r C A 11: 121,051,518 (GRCm39) S127R probably damaging Het
Vmn1r236 A G 17: 21,506,969 (GRCm39) D29G probably benign Het
Vmn2r87 A G 10: 130,308,138 (GRCm39) I700T probably damaging Het
Vmn2r87 T A 10: 130,312,064 (GRCm39) T517S probably benign Het
Vps13b T A 15: 35,675,022 (GRCm39) V1714E probably damaging Het
Wrn T A 8: 33,758,950 (GRCm39) I1003L probably benign Het
Ylpm1 A G 12: 85,077,109 (GRCm39) D1278G possibly damaging Het
Zfp1006 T A 8: 129,946,534 (GRCm39) H97L probably benign Het
Zfp955a A C 17: 33,461,888 (GRCm39) H81Q possibly damaging Het
Zfyve26 T C 12: 79,293,006 (GRCm39) T2048A probably damaging Het
Other mutations in Pramel27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Pramel27 APN 4 143,579,846 (GRCm39) missense probably benign 0.01
IGL01383:Pramel27 APN 4 143,573,102 (GRCm39) utr 5 prime probably benign
IGL01735:Pramel27 APN 4 143,578,401 (GRCm39) missense probably damaging 1.00
IGL01976:Pramel27 APN 4 143,579,363 (GRCm39) missense probably benign 0.17
IGL03096:Pramel27 APN 4 143,577,485 (GRCm39) missense probably benign 0.01
IGL03280:Pramel27 APN 4 143,578,489 (GRCm39) missense possibly damaging 0.74
IGL03295:Pramel27 APN 4 143,579,759 (GRCm39) missense probably damaging 1.00
FR4342:Pramel27 UTSW 4 143,578,213 (GRCm39) frame shift probably null
PIT4687001:Pramel27 UTSW 4 143,573,103 (GRCm39) start gained probably benign
R0218:Pramel27 UTSW 4 143,578,401 (GRCm39) missense probably damaging 1.00
R0612:Pramel27 UTSW 4 143,578,658 (GRCm39) unclassified probably benign
R1755:Pramel27 UTSW 4 143,577,380 (GRCm39) missense probably damaging 1.00
R2509:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R2510:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R2511:Pramel27 UTSW 4 143,578,561 (GRCm39) missense probably benign 0.01
R4603:Pramel27 UTSW 4 143,579,451 (GRCm39) missense probably benign 0.01
R4694:Pramel27 UTSW 4 143,579,530 (GRCm39) missense probably damaging 0.97
R4856:Pramel27 UTSW 4 143,579,873 (GRCm39) missense probably benign 0.00
R4886:Pramel27 UTSW 4 143,579,873 (GRCm39) missense probably benign 0.00
R4927:Pramel27 UTSW 4 143,578,187 (GRCm39) missense probably damaging 1.00
R5168:Pramel27 UTSW 4 143,579,768 (GRCm39) missense probably benign 0.02
R5270:Pramel27 UTSW 4 143,578,468 (GRCm39) missense probably damaging 0.97
R5402:Pramel27 UTSW 4 143,578,225 (GRCm39) critical splice donor site probably null
R5618:Pramel27 UTSW 4 143,577,263 (GRCm39) missense possibly damaging 0.92
R6078:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
R6138:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
R6362:Pramel27 UTSW 4 143,579,435 (GRCm39) missense probably damaging 0.99
R6526:Pramel27 UTSW 4 143,579,384 (GRCm39) missense probably damaging 1.00
R6555:Pramel27 UTSW 4 143,578,140 (GRCm39) missense possibly damaging 0.58
R6595:Pramel27 UTSW 4 143,579,326 (GRCm39) missense probably damaging 1.00
R6675:Pramel27 UTSW 4 143,579,828 (GRCm39) missense probably damaging 0.98
R7216:Pramel27 UTSW 4 143,578,399 (GRCm39) missense probably damaging 0.96
R7282:Pramel27 UTSW 4 143,578,451 (GRCm39) missense possibly damaging 0.85
R7424:Pramel27 UTSW 4 143,579,779 (GRCm39) missense probably benign 0.01
R7511:Pramel27 UTSW 4 143,573,116 (GRCm39) missense possibly damaging 0.68
R7591:Pramel27 UTSW 4 143,577,481 (GRCm39) missense probably benign 0.01
R7868:Pramel27 UTSW 4 143,578,154 (GRCm39) missense possibly damaging 0.58
R8192:Pramel27 UTSW 4 143,578,109 (GRCm39) nonsense probably null
R8244:Pramel27 UTSW 4 143,579,854 (GRCm39) missense probably damaging 1.00
R8256:Pramel27 UTSW 4 143,578,255 (GRCm39) missense probably benign 0.05
R8531:Pramel27 UTSW 4 143,579,601 (GRCm39) missense probably benign 0.00
R8540:Pramel27 UTSW 4 143,579,496 (GRCm39) missense probably benign 0.00
R8793:Pramel27 UTSW 4 143,577,627 (GRCm39) intron probably benign
R8880:Pramel27 UTSW 4 143,573,140 (GRCm39) critical splice donor site probably null
R9069:Pramel27 UTSW 4 143,578,345 (GRCm39) missense probably benign 0.00
R9603:Pramel27 UTSW 4 143,578,267 (GRCm39) missense
R9748:Pramel27 UTSW 4 143,579,892 (GRCm39) makesense probably null
U15987:Pramel27 UTSW 4 143,578,155 (GRCm39) missense possibly damaging 0.58
Z1176:Pramel27 UTSW 4 143,579,680 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- CTCACAGATGTCAATTTCCAGG -3'
(R):5'- GGTGGTTGACATATCCATGCTC -3'

Sequencing Primer
(F):5'- CAGGAAAATGAACTCTCTCTGCTGTC -3'
(R):5'- GGTTGACATATCCATGCTCCTTTAAG -3'
Posted On 2022-11-14