Incidental Mutation 'R5879:Pramel21'
ID 455704
Institutional Source Beutler Lab
Gene Symbol Pramel21
Ensembl Gene ENSMUSG00000066688
Gene Name PRAME like 21
Synonyms Gm13083
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5879 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143341573-143345165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143344161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 487 (Y487F)
Ref Sequence ENSEMBL: ENSMUSP00000101399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105773]
AlphaFold A2AGW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000105773
AA Change: Y487F

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: Y487F

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 431 7e-12 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 C T 7: 44,796,930 (GRCm39) W66* probably null Het
Arhgap39 T C 15: 76,636,007 (GRCm39) D76G probably damaging Het
Arhgef2 G A 3: 88,550,924 (GRCm39) probably null Het
C1qtnf2 T C 11: 43,376,835 (GRCm39) M99T probably damaging Het
Cyren A G 6: 34,851,593 (GRCm39) L87P probably damaging Het
Eml3 G A 19: 8,912,379 (GRCm39) C392Y possibly damaging Het
Ephb4 C A 5: 137,358,678 (GRCm39) P287Q probably benign Het
Fat4 G T 3: 38,941,485 (GRCm39) R126L probably benign Het
Flt3 T C 5: 147,271,719 (GRCm39) M858V probably damaging Het
Gprin3 A C 6: 59,331,698 (GRCm39) I203R probably benign Het
Insr G T 8: 3,248,173 (GRCm39) Y457* probably null Het
Ipo13 G A 4: 117,760,400 (GRCm39) T649I possibly damaging Het
Krba1 A G 6: 48,392,678 (GRCm39) D818G possibly damaging Het
Llgl1 G A 11: 60,603,806 (GRCm39) G1016R probably benign Het
Loxl4 A G 19: 42,596,066 (GRCm39) V142A probably benign Het
Mthfd1 A G 12: 76,340,992 (GRCm39) I464V probably benign Het
Mycs C A X: 5,380,131 (GRCm39) K316N probably damaging Het
Ncor2 A G 5: 125,103,839 (GRCm39) probably benign Het
Nlrc3 A G 16: 3,781,909 (GRCm39) F516S probably damaging Het
Oacyl A G 18: 65,882,743 (GRCm39) S540G probably damaging Het
Olfml2a A T 2: 38,850,242 (GRCm39) T653S probably damaging Het
Or8s16 C T 15: 98,211,369 (GRCm39) V21I probably benign Het
Pcnx2 A T 8: 126,500,685 (GRCm39) N1468K probably damaging Het
Plbd1 A G 6: 136,611,503 (GRCm39) I258T probably damaging Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Prop1 C T 11: 50,844,153 (GRCm39) V27M probably damaging Het
Rfx4 T G 10: 84,650,625 (GRCm39) probably null Het
Rgs11 C T 17: 26,422,437 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,595,260 (GRCm39) F541I probably damaging Het
Srgap3 A T 6: 112,699,807 (GRCm39) V1057E possibly damaging Het
Synpo2 A T 3: 122,907,946 (GRCm39) W457R probably damaging Het
Tet2 T A 3: 133,193,721 (GRCm39) N238Y possibly damaging Het
Tiam2 T A 17: 3,487,540 (GRCm39) M687K probably damaging Het
Ticrr A G 7: 79,346,438 (GRCm39) E1866G probably benign Het
Tspan8 T C 10: 115,669,156 (GRCm39) S64P possibly damaging Het
Ugt2b37 C T 5: 87,402,265 (GRCm39) G122D probably benign Het
Uqcrc2 A G 7: 120,237,111 (GRCm39) E53G probably damaging Het
Vcan T C 13: 89,852,071 (GRCm39) D963G probably damaging Het
Vmn2r24 T A 6: 123,764,226 (GRCm39) Y368N possibly damaging Het
Wdr5 A G 2: 27,418,323 (GRCm39) T208A probably benign Het
Zbtb18 A G 1: 177,275,936 (GRCm39) Y423C probably damaging Het
Zc3h6 A G 2: 128,839,696 (GRCm39) probably null Het
Other mutations in Pramel21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02052:Pramel21 APN 4 143,341,643 (GRCm39) missense probably benign 0.00
IGL02390:Pramel21 APN 4 143,341,895 (GRCm39) missense probably benign 0.29
IGL02676:Pramel21 APN 4 143,342,667 (GRCm39) missense possibly damaging 0.75
IGL03381:Pramel21 APN 4 143,343,625 (GRCm39) splice site probably benign
IGL03410:Pramel21 APN 4 143,341,851 (GRCm39) missense probably benign 0.02
H8562:Pramel21 UTSW 4 143,341,920 (GRCm39) splice site probably benign
PIT4151001:Pramel21 UTSW 4 143,342,722 (GRCm39) nonsense probably null
R0157:Pramel21 UTSW 4 143,342,366 (GRCm39) missense probably damaging 0.98
R0352:Pramel21 UTSW 4 143,342,559 (GRCm39) missense possibly damaging 0.92
R0494:Pramel21 UTSW 4 143,342,726 (GRCm39) missense probably benign 0.33
R0688:Pramel21 UTSW 4 143,343,927 (GRCm39) missense probably benign 0.00
R0884:Pramel21 UTSW 4 143,341,754 (GRCm39) missense probably benign 0.01
R1267:Pramel21 UTSW 4 143,342,304 (GRCm39) missense possibly damaging 0.95
R1418:Pramel21 UTSW 4 143,342,604 (GRCm39) missense probably benign 0.15
R1761:Pramel21 UTSW 4 143,342,438 (GRCm39) missense probably benign 0.00
R3148:Pramel21 UTSW 4 143,344,047 (GRCm39) missense probably benign 0.30
R4063:Pramel21 UTSW 4 143,342,559 (GRCm39) missense possibly damaging 0.77
R4115:Pramel21 UTSW 4 143,344,026 (GRCm39) missense probably benign 0.06
R4760:Pramel21 UTSW 4 143,343,801 (GRCm39) missense probably benign 0.04
R5516:Pramel21 UTSW 4 143,342,253 (GRCm39) missense possibly damaging 0.49
R5603:Pramel21 UTSW 4 143,344,066 (GRCm39) nonsense probably null
R5724:Pramel21 UTSW 4 143,344,026 (GRCm39) missense probably benign 0.06
R5796:Pramel21 UTSW 4 143,341,778 (GRCm39) missense probably benign 0.12
R6181:Pramel21 UTSW 4 143,342,828 (GRCm39) critical splice donor site probably null
R7155:Pramel21 UTSW 4 143,342,735 (GRCm39) missense probably benign 0.01
R7492:Pramel21 UTSW 4 143,342,744 (GRCm39) missense not run
R7913:Pramel21 UTSW 4 143,341,615 (GRCm39) missense possibly damaging 0.87
R7995:Pramel21 UTSW 4 143,342,570 (GRCm39) missense possibly damaging 0.89
R8126:Pramel21 UTSW 4 143,343,635 (GRCm39) missense possibly damaging 0.87
R8901:Pramel21 UTSW 4 143,343,677 (GRCm39) missense probably benign 0.00
R9061:Pramel21 UTSW 4 143,342,741 (GRCm39) missense possibly damaging 0.94
R9095:Pramel21 UTSW 4 143,341,760 (GRCm39) missense probably damaging 1.00
R9170:Pramel21 UTSW 4 143,341,600 (GRCm39) missense possibly damaging 0.78
R9445:Pramel21 UTSW 4 143,343,795 (GRCm39) missense probably damaging 1.00
R9666:Pramel21 UTSW 4 143,341,699 (GRCm39) missense probably benign 0.00
Z1088:Pramel21 UTSW 4 143,341,802 (GRCm39) missense possibly damaging 0.78
Z1177:Pramel21 UTSW 4 143,342,730 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACCCTGGAAAAGTACCCTGC -3'
(R):5'- CTGTAGACATTGGGCTGAAAATAAGC -3'

Sequencing Primer
(F):5'- GCCCCTGATGAAGTCTATGATGAC -3'
(R):5'- GGCTGAAAATAAGCTCATGGTTTTCC -3'
Posted On 2017-02-10