Incidental Mutation 'R9095:Pramel21'
ID 691270
Institutional Source Beutler Lab
Gene Symbol Pramel21
Ensembl Gene ENSMUSG00000066688
Gene Name PRAME like 21
Synonyms Gm13083
MMRRC Submission 068910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R9095 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143341573-143345165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143341760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 63 (F63S)
Ref Sequence ENSEMBL: ENSMUSP00000101399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105773]
AlphaFold A2AGW5
Predicted Effect probably damaging
Transcript: ENSMUST00000105773
AA Change: F63S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: F63S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 431 7e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,500,370 (GRCm39) V1274M probably damaging Het
Abca4 A G 3: 121,967,556 (GRCm39) H2202R possibly damaging Het
Ablim3 A G 18: 61,953,463 (GRCm39) L350P probably benign Het
Adamts17 C T 7: 66,654,117 (GRCm39) T449I probably damaging Het
Ankrd39 T A 1: 36,586,241 (GRCm39) D9V probably benign Het
Arhgef7 T C 8: 11,835,819 (GRCm39) V192A probably damaging Het
Art4 C T 6: 136,834,269 (GRCm39) probably benign Het
Atg4a-ps A T 3: 103,553,254 (GRCm39) V29E possibly damaging Het
Ccdc180 A T 4: 45,949,466 (GRCm39) K1574* probably null Het
Cfap54 T G 10: 92,846,882 (GRCm39) T1028P probably damaging Het
Clip2 C T 5: 134,532,254 (GRCm39) R517H possibly damaging Het
Col5a1 A G 2: 27,914,665 (GRCm39) T94A probably benign Het
Cpne1 T A 2: 155,918,210 (GRCm39) probably null Het
Csnk2a1-ps3 A T 1: 156,352,213 (GRCm39) Y138F probably benign Het
Cyp2f2 T A 7: 26,830,667 (GRCm39) M346K possibly damaging Het
D130040H23Rik AAGAATATATTCTACAGAATATA AAGAATATA 8: 69,755,748 (GRCm39) probably null Het
Ddi2 T A 4: 141,419,590 (GRCm39) I387F probably benign Het
Dsg1b A G 18: 20,523,282 (GRCm39) N103S probably damaging Het
Duxf3 GCCC GCC 10: 58,066,944 (GRCm39) probably null Het
Dysf A G 6: 84,156,666 (GRCm39) I1464V probably benign Het
Epha2 A G 4: 141,044,012 (GRCm39) Y314C possibly damaging Het
Etl4 A G 2: 20,782,964 (GRCm39) E675G probably damaging Het
Fam114a1 A C 5: 65,188,733 (GRCm39) I488L probably benign Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fn1 A C 1: 71,647,149 (GRCm39) I1547S probably null Het
Garre1 A T 7: 33,956,770 (GRCm39) probably null Het
Get1 T A 16: 95,954,244 (GRCm39) probably benign Het
Gm14305 T A 2: 176,413,045 (GRCm39) Y312* probably null Het
Golm2 T A 2: 121,756,096 (GRCm39) L375Q probably damaging Het
Gpihbp1 A G 15: 75,469,641 (GRCm39) T119A possibly damaging Het
Harbi1 T G 2: 91,542,980 (GRCm39) V147G probably damaging Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Ighv13-2 C A 12: 114,321,494 (GRCm39) A82S probably benign Het
Itpr1 T A 6: 108,364,352 (GRCm39) D827E probably benign Het
Krtap4-2 C T 11: 99,525,801 (GRCm39) G17D unknown Het
Ly6a A T 15: 74,867,333 (GRCm39) probably benign Het
Mad1l1 C T 5: 140,288,741 (GRCm39) E203K probably damaging Het
Mapk14 C A 17: 28,934,413 (GRCm39) D101E probably benign Het
Meis3 G T 7: 15,917,764 (GRCm39) G306W probably damaging Het
Mixl1 T C 1: 180,524,402 (GRCm39) D59G probably benign Het
Nav2 G A 7: 49,254,293 (GRCm39) V2364M probably damaging Het
Nell1 T C 7: 50,506,150 (GRCm39) S786P possibly damaging Het
Or13a25 T G 7: 140,247,813 (GRCm39) N197K probably damaging Het
Or51e2 C A 7: 102,391,473 (GRCm39) V246L possibly damaging Het
Or51g1 A G 7: 102,633,687 (GRCm39) L228P probably damaging Het
Or5b107 T G 19: 13,143,310 (GRCm39) S311A probably benign Het
Pcdhgb8 A T 18: 37,896,052 (GRCm39) D374V probably damaging Het
Phactr2 A G 10: 13,129,386 (GRCm39) I294T probably benign Het
Plekha4 C T 7: 45,190,492 (GRCm39) A400V probably damaging Het
Pramel4 C A 4: 143,794,928 (GRCm39) D441E probably benign Het
Prr12 G A 7: 44,695,267 (GRCm39) P1400S unknown Het
Prss3b T A 6: 41,010,038 (GRCm39) N99Y possibly damaging Het
Rbm6 G A 9: 107,669,089 (GRCm39) Q608* probably null Het
Scamp1 T A 13: 94,369,598 (GRCm39) I76F probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Sirt1 A T 10: 63,158,077 (GRCm39) S446T probably damaging Het
Slc25a54 A G 3: 109,019,404 (GRCm39) K336R probably benign Het
Spag17 G T 3: 99,912,092 (GRCm39) V321F possibly damaging Het
Sstr1 A G 12: 58,259,620 (GRCm39) Y81C probably damaging Het
St8sia4 T C 1: 95,519,525 (GRCm39) K321R probably damaging Het
Stac3 T C 10: 127,343,584 (GRCm39) F242S probably damaging Het
Tanc2 T G 11: 105,758,104 (GRCm39) S622A probably benign Het
Tcf4 G A 18: 69,598,464 (GRCm39) D106N possibly damaging Het
Tfrc T A 16: 32,433,571 (GRCm39) I75N possibly damaging Het
Tigd2 G A 6: 59,187,509 (GRCm39) W125* probably null Het
Tjp1 T C 7: 64,952,745 (GRCm39) T1530A possibly damaging Het
Tmem132a T A 19: 10,844,412 (GRCm39) H62L probably benign Het
Tmem89 T C 9: 108,743,729 (GRCm39) S10P unknown Het
Trrap C T 5: 144,733,961 (GRCm39) P938L probably damaging Het
Unc80 C A 1: 66,545,912 (GRCm39) P488T probably damaging Het
Uri1 C A 7: 37,662,873 (GRCm39) G374C probably damaging Het
Utp20 T C 10: 88,611,180 (GRCm39) N1379S probably damaging Het
Vcan G T 13: 89,852,644 (GRCm39) T772K probably benign Het
Zbtb37 A T 1: 160,847,941 (GRCm39) Y355* probably null Het
Zfp3 A G 11: 70,662,405 (GRCm39) I121M probably benign Het
Zfp629 A T 7: 127,209,547 (GRCm39) L754Q probably damaging 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
R5879:Pramel21 UTSW 4 143,344,161 (GRCm39) missense possibly damaging 0.64
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
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'- TGTCACCAGACCAGTGATTG -3'
(R):5'- TTGGACTCACATACCTAGGTCG -3'

Sequencing Primer
(F):5'- ATCATGGTTTATGTAATTGAGAAGGG -3'
(R):5'- ATACCTAGGTCGATCCTTTTGTGAC -3'
Posted On 2021-12-30