Incidental Mutation 'R5198:Pramel5'
ID 400452
Institutional Source Beutler Lab
Gene Symbol Pramel5
Ensembl Gene ENSMUSG00000036749
Gene Name PRAME like 5
Synonyms OTTMUSG00000010540
MMRRC Submission 042774-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R5198 (G1)
Quality Score 195
Status Validated
Chromosome 4
Chromosomal Location 143997203-144007036 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 144000064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035757] [ENSMUST00000105752]
AlphaFold Q7TPY4
Predicted Effect probably benign
Transcript: ENSMUST00000035757
SMART Domains Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749

DomainStartEndE-ValueType
SCOP:d1a4ya_ 224 411 1e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105752
SMART Domains Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749

DomainStartEndE-ValueType
SCOP:d1a4ya_ 224 411 1e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144127
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,571,726 (GRCm39) V1121A probably benign Het
Adamtsl3 A C 7: 82,261,006 (GRCm39) K1647Q possibly damaging Het
Adgrb1 A T 15: 74,415,550 (GRCm39) Q710L probably null Het
Alox12 T C 11: 70,145,243 (GRCm39) E110G probably damaging Het
Cep152 T A 2: 125,429,544 (GRCm39) M738L probably benign Het
Cma2 T C 14: 56,209,532 (GRCm39) V38A probably benign Het
Dlc1 C T 8: 37,405,552 (GRCm39) G79D probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dus3l A G 17: 57,076,574 (GRCm39) I585V probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fbxw15 C A 9: 109,387,242 (GRCm39) S251I probably benign Het
Gata4 G A 14: 63,437,900 (GRCm39) S417L probably benign Het
Gdpd5 T A 7: 99,087,515 (GRCm39) Y60N probably damaging Het
Gm17669 T C 18: 67,695,626 (GRCm39) M57T probably benign Het
Gpr39 A T 1: 125,605,173 (GRCm39) I34F probably benign Het
Iffo2 T A 4: 139,302,528 (GRCm39) D90E probably benign Het
Il17c A G 8: 123,149,108 (GRCm39) D84G possibly damaging Het
Itih3 T C 14: 30,634,606 (GRCm39) T134A probably benign Het
Lama2 G A 10: 27,222,999 (GRCm39) A429V probably damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mug1 G A 6: 121,851,521 (GRCm39) R806H probably damaging Het
Naaa G A 5: 92,415,904 (GRCm39) R65* probably null Het
Nacc2 C T 2: 25,950,346 (GRCm39) M463I probably benign Het
Nemf A G 12: 69,402,821 (GRCm39) S72P probably damaging Het
Nudt7 G A 8: 114,862,185 (GRCm39) probably null Het
Or4b1b T C 2: 90,126,737 (GRCm39) Q156R probably damaging Het
Or52z15 T C 7: 103,331,936 (GRCm39) S4P probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pacs1 T C 19: 5,189,325 (GRCm39) D757G probably benign Het
Pkd2 A C 5: 104,630,958 (GRCm39) I461L probably benign Het
Potegl G A 2: 23,102,473 (GRCm39) C121Y probably damaging Het
Ptgdr G C 14: 45,096,300 (GRCm39) F137L probably damaging Het
Pum1 T A 4: 130,507,190 (GRCm39) C1085* probably null Het
Rfx3 T C 19: 27,808,176 (GRCm39) D189G probably damaging Het
Rlf T A 4: 121,005,750 (GRCm39) K1077* probably null Het
Slc25a30 C A 14: 76,007,056 (GRCm39) D147Y probably benign Het
Smap2 T C 4: 120,873,984 (GRCm39) E22G possibly damaging Het
Szt2 T C 4: 118,245,519 (GRCm39) T1098A probably benign Het
Tbcc T C 17: 47,201,788 (GRCm39) F58S probably damaging Het
Tekt3 G A 11: 62,961,134 (GRCm39) R101H probably damaging Het
Vcan T A 13: 89,838,991 (GRCm39) E2184D probably damaging Het
Vkorc1 T C 7: 127,493,760 (GRCm39) E18G probably benign Het
Vmn1r68 T C 7: 10,261,723 (GRCm39) H125R probably benign Het
Vmn2r63 C A 7: 42,553,169 (GRCm39) V696L probably benign Het
Wdr59 G A 8: 112,208,620 (GRCm39) H421Y probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp112 T C 7: 23,824,281 (GRCm39) V83A possibly damaging Het
Zfp616 G A 11: 73,974,336 (GRCm39) V293I probably benign Het
Other mutations in Pramel5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Pramel5 APN 4 143,998,191 (GRCm39) missense probably damaging 1.00
IGL00990:Pramel5 APN 4 144,000,549 (GRCm39) missense probably damaging 1.00
IGL01070:Pramel5 APN 4 143,997,842 (GRCm39) missense probably damaging 1.00
IGL01298:Pramel5 APN 4 143,997,732 (GRCm39) utr 3 prime probably benign
IGL01653:Pramel5 APN 4 144,000,429 (GRCm39) missense probably benign 0.01
IGL02150:Pramel5 APN 4 143,999,771 (GRCm39) missense possibly damaging 0.93
IGL02278:Pramel5 APN 4 143,998,121 (GRCm39) missense probably damaging 1.00
IGL02671:Pramel5 APN 4 143,999,682 (GRCm39) missense probably benign 0.25
IGL02868:Pramel5 APN 4 143,997,922 (GRCm39) missense probably benign 0.03
IGL02981:Pramel5 APN 4 143,999,430 (GRCm39) missense probably benign 0.01
R0532:Pramel5 UTSW 4 143,999,310 (GRCm39) missense probably benign 0.03
R0646:Pramel5 UTSW 4 143,998,190 (GRCm39) missense probably damaging 1.00
R1328:Pramel5 UTSW 4 143,998,058 (GRCm39) missense probably damaging 1.00
R1902:Pramel5 UTSW 4 144,000,433 (GRCm39) nonsense probably null
R2027:Pramel5 UTSW 4 143,998,274 (GRCm39) missense probably damaging 1.00
R2240:Pramel5 UTSW 4 143,999,506 (GRCm39) nonsense probably null
R2439:Pramel5 UTSW 4 144,000,310 (GRCm39) missense probably benign 0.01
R3922:Pramel5 UTSW 4 143,999,622 (GRCm39) missense probably damaging 1.00
R4470:Pramel5 UTSW 4 143,997,915 (GRCm39) missense possibly damaging 0.89
R4808:Pramel5 UTSW 4 143,999,325 (GRCm39) missense probably benign 0.04
R4969:Pramel5 UTSW 4 143,998,187 (GRCm39) missense probably damaging 1.00
R5195:Pramel5 UTSW 4 143,998,311 (GRCm39) missense probably benign 0.01
R5930:Pramel5 UTSW 4 143,999,553 (GRCm39) missense probably benign 0.43
R5988:Pramel5 UTSW 4 143,999,716 (GRCm39) missense possibly damaging 0.46
R6662:Pramel5 UTSW 4 143,999,675 (GRCm39) missense probably benign 0.32
R6988:Pramel5 UTSW 4 144,000,577 (GRCm39) start gained probably benign
R7116:Pramel5 UTSW 4 144,000,451 (GRCm39) missense possibly damaging 0.94
R7638:Pramel5 UTSW 4 143,998,010 (GRCm39) missense possibly damaging 0.93
R8247:Pramel5 UTSW 4 143,999,395 (GRCm39) missense probably damaging 1.00
R8993:Pramel5 UTSW 4 143,999,529 (GRCm39) missense possibly damaging 0.81
R9049:Pramel5 UTSW 4 144,000,486 (GRCm39) missense probably benign 0.02
R9402:Pramel5 UTSW 4 143,998,026 (GRCm39) missense probably benign 0.15
R9632:Pramel5 UTSW 4 143,999,545 (GRCm39) missense probably benign 0.15
R9710:Pramel5 UTSW 4 143,999,545 (GRCm39) missense probably benign 0.15
X0028:Pramel5 UTSW 4 143,999,406 (GRCm39) missense probably benign 0.00
Z1176:Pramel5 UTSW 4 144,000,430 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAATGTGTAATCTGCATGACCC -3'
(R):5'- GAATACAGGATTCACAATGGGTCC -3'

Sequencing Primer
(F):5'- GTGTAATCTGCATGACCCATAATTC -3'
(R):5'- TTCACAATGGGTCCAAGGTGAATC -3'
Posted On 2016-07-06