Incidental Mutation 'R7569:Pramel51'
ID 585657
Institutional Source Beutler Lab
Gene Symbol Pramel51
Ensembl Gene ENSMUSG00000066027
Gene Name PRAME like 51
Synonyms Gm10436
MMRRC Submission 045657-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R7569 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 88142359-88148664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88143085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 373 (Y373N)
Ref Sequence ENSEMBL: ENSMUSP00000071508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071580] [ENSMUST00000220521] [ENSMUST00000222081] [ENSMUST00000223172]
AlphaFold L7N1Y3
Predicted Effect probably benign
Transcript: ENSMUST00000071580
AA Change: Y373N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: Y373N

DomainStartEndE-ValueType
SCOP:d1a4ya_ 247 445 5e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220521
AA Change: Y178N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221884
Predicted Effect probably benign
Transcript: ENSMUST00000222081
Predicted Effect probably benign
Transcript: ENSMUST00000222391
Predicted Effect probably benign
Transcript: ENSMUST00000222556
Predicted Effect probably benign
Transcript: ENSMUST00000223172
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182O14Rik A T 15: 40,008,344 (GRCm39) T73S unknown Het
Acvrl1 A G 15: 101,033,636 (GRCm39) Q106R probably benign Het
Adgb A T 10: 10,306,996 (GRCm39) D329E probably benign Het
Ankrd12 A T 17: 66,289,900 (GRCm39) D1844E probably damaging Het
Ankub1 G A 3: 57,573,039 (GRCm39) R228* probably null Het
Apol6 A C 15: 76,934,898 (GRCm39) probably benign Het
Ascc2 G A 11: 4,629,506 (GRCm39) V618M probably damaging Het
Asic3 A G 5: 24,619,046 (GRCm39) T113A probably benign Het
BC034090 T A 1: 155,093,151 (GRCm39) H769L probably benign Het
Bcl11a G T 11: 24,035,458 (GRCm39) E65* probably null Het
Birc6 G T 17: 74,905,077 (GRCm39) R1290L possibly damaging Het
C6 A G 15: 4,819,063 (GRCm39) E465G probably benign Het
Cav2 T A 6: 17,282,078 (GRCm39) I112N probably damaging Het
Cep131 G A 11: 119,957,539 (GRCm39) A848V probably damaging Het
Col8a1 T A 16: 57,447,555 (GRCm39) I652F unknown Het
Cul4a A G 8: 13,173,493 (GRCm39) N180S probably benign Het
Dhx38 A G 8: 110,287,327 (GRCm39) S214P probably damaging Het
Dmxl2 A G 9: 54,323,271 (GRCm39) V1197A possibly damaging Het
Dynlt1f A G 17: 6,923,181 (GRCm39) S7P not run Het
Eef1ece2 T A 16: 20,461,237 (GRCm39) Y641* probably null Het
Epha1 T A 6: 42,342,356 (GRCm39) T331S possibly damaging Het
Hus1b A G 13: 31,130,847 (GRCm39) Y271H probably damaging Het
Kmt2b A G 7: 30,268,978 (GRCm39) V2610A possibly damaging Het
Lama2 A G 10: 27,141,046 (GRCm39) L651P probably damaging Het
Lgr5 T C 10: 115,298,661 (GRCm39) Y361C probably damaging Het
Map1s T C 8: 71,366,142 (GRCm39) V349A probably benign Het
Map3k6 A G 4: 132,977,388 (GRCm39) R912G probably benign Het
Mtarc2 A T 1: 184,573,622 (GRCm39) F92Y possibly damaging Het
Nampt T A 12: 32,900,433 (GRCm39) H459Q probably benign Het
Nlrp1a T C 11: 70,999,869 (GRCm39) M817V probably benign Het
Npsr1 A G 9: 24,225,026 (GRCm39) R345G probably benign Het
Nuak2 G A 1: 132,244,019 (GRCm39) A18T possibly damaging Het
Or4d6 T C 19: 12,086,385 (GRCm39) D175G possibly damaging Het
Or5ak23 A G 2: 85,244,479 (GRCm39) V248A probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Ppp4r3b T C 11: 29,138,540 (GRCm39) F296S possibly damaging Het
Pycr2 T C 1: 180,732,083 (GRCm39) F19L probably benign Het
Robo2 T A 16: 73,832,003 (GRCm39) T226S possibly damaging Het
Rock1 A T 18: 10,140,194 (GRCm39) N132K probably damaging Het
Rp1 A T 1: 4,355,063 (GRCm39) L379Q unknown Het
Sema6d A G 2: 124,499,892 (GRCm39) I323V possibly damaging Het
Slc12a4 A G 8: 106,672,479 (GRCm39) I814T probably damaging Het
Slc18a2 G A 19: 59,272,584 (GRCm39) G352R probably damaging Het
Slc39a14 T C 14: 70,547,276 (GRCm39) T357A possibly damaging Het
Smarcad1 T A 6: 65,029,695 (GRCm39) D94E probably benign Het
Sorcs2 A G 5: 36,183,220 (GRCm39) Y1018H probably benign Het
Srebf1 G T 11: 60,090,947 (GRCm39) T1069K possibly damaging Het
St3gal3 A G 4: 117,821,553 (GRCm39) V123A probably benign Het
Stradb A G 1: 59,030,310 (GRCm39) Y188C unknown Het
Styxl2 T C 1: 165,935,604 (GRCm39) D198G probably damaging Het
Sult2a2 T C 7: 13,513,430 (GRCm39) F186L probably benign Het
Syne2 A G 12: 75,974,164 (GRCm39) T1120A probably benign Het
Taok1 A T 11: 77,446,440 (GRCm39) S430T probably benign Het
Tmem62 A T 2: 120,837,411 (GRCm39) I573L probably benign Het
Trav9-1 T C 14: 53,725,581 (GRCm39) S7P probably benign Het
U2af1l4 A T 7: 30,262,982 (GRCm39) I24F probably damaging Het
Usp33 T A 3: 152,097,302 (GRCm39) I840N probably damaging Het
Vmn2r74 A C 7: 85,601,544 (GRCm39) I698S probably damaging Het
Zfp352 C T 4: 90,111,896 (GRCm39) P12L possibly damaging Het
Zfp507 T A 7: 35,493,969 (GRCm39) E358V probably damaging Het
Other mutations in Pramel51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Pramel51 APN 12 88,143,882 (GRCm39) missense probably benign 0.35
IGL01391:Pramel51 APN 12 88,145,225 (GRCm39) missense possibly damaging 0.84
IGL01432:Pramel51 APN 12 88,143,202 (GRCm39) missense probably benign 0.44
IGL01519:Pramel51 APN 12 88,144,331 (GRCm39) missense probably benign 0.00
IGL01784:Pramel51 APN 12 88,143,085 (GRCm39) missense probably benign
IGL02121:Pramel51 APN 12 88,145,242 (GRCm39) missense possibly damaging 0.83
IGL02728:Pramel51 APN 12 88,142,792 (GRCm39) missense probably benign 0.17
R0336:Pramel51 UTSW 12 88,144,961 (GRCm39) missense probably benign 0.20
R0554:Pramel51 UTSW 12 88,144,328 (GRCm39) missense probably benign 0.10
R1279:Pramel51 UTSW 12 88,142,650 (GRCm39) missense probably benign 0.42
R1832:Pramel51 UTSW 12 88,145,218 (GRCm39) missense possibly damaging 0.73
R1833:Pramel51 UTSW 12 88,145,218 (GRCm39) missense possibly damaging 0.73
R1900:Pramel51 UTSW 12 88,144,030 (GRCm39) missense probably benign 0.02
R2412:Pramel51 UTSW 12 88,143,880 (GRCm39) missense probably damaging 0.98
R3040:Pramel51 UTSW 12 88,145,118 (GRCm39) missense probably benign 0.00
R3625:Pramel51 UTSW 12 88,142,731 (GRCm39) missense probably benign 0.06
R4078:Pramel51 UTSW 12 88,142,683 (GRCm39) missense probably benign 0.38
R4270:Pramel51 UTSW 12 88,145,053 (GRCm39) missense probably damaging 1.00
R4271:Pramel51 UTSW 12 88,145,053 (GRCm39) missense probably damaging 1.00
R5318:Pramel51 UTSW 12 88,142,998 (GRCm39) missense probably benign 0.01
R5552:Pramel51 UTSW 12 88,145,135 (GRCm39) missense probably benign 0.03
R5601:Pramel51 UTSW 12 88,142,817 (GRCm39) missense probably damaging 1.00
R5881:Pramel51 UTSW 12 88,143,111 (GRCm39) missense probably damaging 1.00
R5973:Pramel51 UTSW 12 88,142,683 (GRCm39) missense probably benign 0.02
R6058:Pramel51 UTSW 12 88,143,995 (GRCm39) missense possibly damaging 0.91
R6488:Pramel51 UTSW 12 88,144,357 (GRCm39) missense possibly damaging 0.87
R6656:Pramel51 UTSW 12 88,142,763 (GRCm39) missense possibly damaging 0.89
R7307:Pramel51 UTSW 12 88,148,519 (GRCm39) missense probably damaging 1.00
R7332:Pramel51 UTSW 12 88,143,187 (GRCm39) missense possibly damaging 0.72
R7544:Pramel51 UTSW 12 88,142,850 (GRCm39) missense probably benign 0.00
R7645:Pramel51 UTSW 12 88,143,028 (GRCm39) missense probably damaging 1.00
R7752:Pramel51 UTSW 12 88,142,769 (GRCm39) missense probably damaging 1.00
R7855:Pramel51 UTSW 12 88,142,853 (GRCm39) missense probably benign 0.03
R7860:Pramel51 UTSW 12 88,143,122 (GRCm39) missense possibly damaging 0.89
R8113:Pramel51 UTSW 12 88,143,850 (GRCm39) missense probably benign 0.00
R8356:Pramel51 UTSW 12 88,143,986 (GRCm39) missense probably benign 0.01
R8456:Pramel51 UTSW 12 88,143,986 (GRCm39) missense probably benign 0.01
R8921:Pramel51 UTSW 12 88,143,952 (GRCm39) missense probably benign 0.10
R8953:Pramel51 UTSW 12 88,144,070 (GRCm39) missense probably benign 0.17
R9112:Pramel51 UTSW 12 88,144,055 (GRCm39) missense possibly damaging 0.64
R9546:Pramel51 UTSW 12 88,148,651 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GTGTAGAAGTTGTTTCAAGAAAGGC -3'
(R):5'- GAGAAGTGCCATCTGCTTAGC -3'

Sequencing Primer
(F):5'- TGTTTCAAGAAAGGCAGAGAAACATC -3'
(R):5'- GCTTAGCTGTCAATTATATCAACCC -3'
Posted On 2019-10-17