Incidental Mutation 'R6073:Pramel23'
ID 482566
Institutional Source Beutler Lab
Gene Symbol Pramel23
Ensembl Gene ENSMUSG00000070617
Gene Name PRAME like 23
Synonyms Gm13089
MMRRC Submission 044234-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6073 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143423070-143429281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143424838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 202 (I202V)
Ref Sequence ENSEMBL: ENSMUSP00000073224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073532]
AlphaFold A2AGW7
Predicted Effect probably damaging
Transcript: ENSMUST00000073532
AA Change: I202V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: I202V

DomainStartEndE-ValueType
low complexity region 204 216 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
Meta Mutation Damage Score 0.2383 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 A T 18: 62,312,537 (GRCm39) M96K probably benign Het
Aox1 T C 1: 58,143,668 (GRCm39) probably null Het
Bnip5 A T 17: 29,123,597 (GRCm39) V367D probably damaging Het
C3 C T 17: 57,513,223 (GRCm39) G183R probably null Het
Cad A G 5: 31,219,906 (GRCm39) T753A possibly damaging Het
Cc2d2a C T 5: 43,887,317 (GRCm39) T1249M probably damaging Het
Cd74 G A 18: 60,944,558 (GRCm39) probably null Het
Cenpc1 A G 5: 86,206,012 (GRCm39) probably null Het
Cenpe T A 3: 134,965,834 (GRCm39) L2104* probably null Het
Cttnbp2 A G 6: 18,434,232 (GRCm39) I542T probably damaging Het
Cttnbp2 T C 6: 18,448,368 (GRCm39) D97G probably benign Het
Dnah10 A G 5: 124,896,274 (GRCm39) D3546G probably benign Het
Dscaml1 G A 9: 45,361,881 (GRCm39) V214I probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l2 T G 10: 25,377,730 (GRCm39) H597Q probably damaging Het
Erbin G A 13: 103,981,429 (GRCm39) Q499* probably null Het
Erc2 A T 14: 27,733,593 (GRCm39) I556F probably benign Het
Fscn2 G T 11: 120,252,613 (GRCm39) E27* probably null Het
Fsd1l A G 4: 53,679,994 (GRCm39) T231A probably damaging Het
G6pc1 T A 11: 101,258,802 (GRCm39) N60K probably benign Het
Gm43302 A G 5: 105,438,825 (GRCm39) V21A probably damaging Het
Heatr3 G T 8: 88,864,768 (GRCm39) A41S probably benign Het
Hrct1 T C 4: 43,727,543 (GRCm39) probably benign Het
Ihh T C 1: 74,990,438 (GRCm39) probably benign Het
Jph3 A T 8: 122,480,291 (GRCm39) Y323F probably damaging Het
Kcnj5 T C 9: 32,229,096 (GRCm39) D34G probably damaging Het
Magi2 G A 5: 20,774,286 (GRCm39) E231K probably damaging Het
Muc5b A C 7: 141,412,025 (GRCm39) Y1657S unknown Het
Muc5b G A 7: 141,402,797 (GRCm39) C667Y unknown Het
Myo10 G A 15: 25,736,728 (GRCm39) C459Y probably damaging Het
Nemp1 A G 10: 127,525,112 (GRCm39) K40E probably benign Het
Nipsnap1 T C 11: 4,838,895 (GRCm39) F107S possibly damaging Het
Ntrk1 T C 3: 87,698,677 (GRCm39) probably null Het
Pabpc1 A G 15: 36,600,895 (GRCm39) I305T probably damaging Het
Piezo2 A G 18: 63,145,716 (GRCm39) F2736S probably damaging Het
Pnldc1 T C 17: 13,109,250 (GRCm39) Y450C probably null Het
Polr2g A T 19: 8,774,673 (GRCm39) V70E probably damaging Het
Prpf8 T C 11: 75,384,848 (GRCm39) probably null Het
Rfxap T C 3: 54,714,708 (GRCm39) Y130C probably damaging Het
Rpl3l A G 17: 24,949,861 (GRCm39) E20G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
Slc39a10 T C 1: 46,871,772 (GRCm39) D389G possibly damaging Het
Sorbs1 T C 19: 40,303,101 (GRCm39) H496R probably damaging Het
Spast G A 17: 74,680,300 (GRCm39) V420M probably damaging Het
Spata13 C T 14: 60,987,470 (GRCm39) T876I probably damaging Het
Spata31d1a T A 13: 59,850,808 (GRCm39) N440I probably damaging Het
Tdrd1 G T 19: 56,831,655 (GRCm39) E349* probably null Het
Tie1 A G 4: 118,339,587 (GRCm39) V398A probably benign Het
Tmem255b T A 8: 13,506,958 (GRCm39) L229Q probably damaging Het
Tmem59 T A 4: 107,050,598 (GRCm39) probably null Het
Trim3 G A 7: 105,266,746 (GRCm39) R479C probably damaging Het
Ucp2 G A 7: 100,147,338 (GRCm39) V131M possibly damaging Het
Vars1 A G 17: 35,220,505 (GRCm39) D29G probably benign Het
Vmn2r43 T C 7: 8,258,184 (GRCm39) K343R probably benign Het
Washc5 T C 15: 59,207,019 (GRCm39) K1085E possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp963 A T 8: 70,195,853 (GRCm39) C86* probably null Het
Zfp977 A G 7: 42,230,165 (GRCm39) I120T probably benign Het
Other mutations in Pramel23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Pramel23 APN 4 143,423,410 (GRCm39) utr 3 prime probably benign
IGL02087:Pramel23 APN 4 143,423,644 (GRCm39) missense probably damaging 0.96
IGL02296:Pramel23 APN 4 143,425,051 (GRCm39) nonsense probably null
IGL02902:Pramel23 APN 4 143,424,913 (GRCm39) missense probably damaging 1.00
IGL02903:Pramel23 APN 4 143,425,736 (GRCm39) missense probably benign 0.04
IGL02962:Pramel23 APN 4 143,423,910 (GRCm39) missense probably benign 0.28
IGL03351:Pramel23 APN 4 143,423,658 (GRCm39) missense possibly damaging 0.80
R0122:Pramel23 UTSW 4 143,424,974 (GRCm39) missense probably benign 0.44
R0533:Pramel23 UTSW 4 143,424,590 (GRCm39) nonsense probably null
R0609:Pramel23 UTSW 4 143,425,073 (GRCm39) missense probably benign 0.00
R0743:Pramel23 UTSW 4 143,425,134 (GRCm39) missense probably damaging 0.97
R0744:Pramel23 UTSW 4 143,425,056 (GRCm39) missense probably benign 0.19
R0833:Pramel23 UTSW 4 143,425,056 (GRCm39) missense probably benign 0.19
R1052:Pramel23 UTSW 4 143,423,477 (GRCm39) missense possibly damaging 0.81
R1690:Pramel23 UTSW 4 143,424,693 (GRCm39) missense probably benign 0.03
R1764:Pramel23 UTSW 4 143,424,840 (GRCm39) missense probably benign 0.14
R1896:Pramel23 UTSW 4 143,424,714 (GRCm39) missense probably benign 0.11
R2084:Pramel23 UTSW 4 143,425,920 (GRCm39) missense probably damaging 1.00
R2178:Pramel23 UTSW 4 143,424,612 (GRCm39) missense possibly damaging 0.95
R2888:Pramel23 UTSW 4 143,423,460 (GRCm39) missense probably benign 0.00
R3759:Pramel23 UTSW 4 143,423,721 (GRCm39) missense probably damaging 1.00
R4193:Pramel23 UTSW 4 143,424,903 (GRCm39) missense probably damaging 1.00
R4380:Pramel23 UTSW 4 143,424,856 (GRCm39) missense probably benign 0.21
R4385:Pramel23 UTSW 4 143,424,584 (GRCm39) critical splice donor site probably null
R4513:Pramel23 UTSW 4 143,424,718 (GRCm39) missense probably benign 0.00
R4647:Pramel23 UTSW 4 143,425,914 (GRCm39) missense probably benign 0.00
R4920:Pramel23 UTSW 4 143,425,853 (GRCm39) missense probably benign 0.05
R4994:Pramel23 UTSW 4 143,424,939 (GRCm39) missense possibly damaging 0.94
R5197:Pramel23 UTSW 4 143,424,632 (GRCm39) missense possibly damaging 0.86
R6005:Pramel23 UTSW 4 143,425,002 (GRCm39) missense probably benign 0.00
R6197:Pramel23 UTSW 4 143,423,886 (GRCm39) missense possibly damaging 0.90
R6264:Pramel23 UTSW 4 143,425,722 (GRCm39) missense possibly damaging 0.50
R6821:Pramel23 UTSW 4 143,425,874 (GRCm39) nonsense probably null
R6923:Pramel23 UTSW 4 143,425,676 (GRCm39) missense probably benign 0.06
R7034:Pramel23 UTSW 4 143,423,898 (GRCm39) missense probably damaging 1.00
R7140:Pramel23 UTSW 4 143,425,002 (GRCm39) missense probably benign 0.01
R7298:Pramel23 UTSW 4 143,425,075 (GRCm39) missense probably benign 0.23
R7529:Pramel23 UTSW 4 143,429,244 (GRCm39)
R7766:Pramel23 UTSW 4 143,425,809 (GRCm39) missense probably damaging 0.98
R7774:Pramel23 UTSW 4 143,423,676 (GRCm39) missense possibly damaging 0.89
R7816:Pramel23 UTSW 4 143,424,764 (GRCm39) missense probably benign 0.00
R8137:Pramel23 UTSW 4 143,425,835 (GRCm39) missense probably damaging 1.00
R8937:Pramel23 UTSW 4 143,423,562 (GRCm39) missense probably damaging 1.00
R8982:Pramel23 UTSW 4 143,424,886 (GRCm39) missense probably benign 0.01
R9016:Pramel23 UTSW 4 143,423,899 (GRCm39) missense possibly damaging 0.76
R9100:Pramel23 UTSW 4 143,425,727 (GRCm39) missense probably benign 0.04
R9200:Pramel23 UTSW 4 143,423,856 (GRCm39) missense possibly damaging 0.90
R9257:Pramel23 UTSW 4 143,425,685 (GRCm39) missense probably damaging 1.00
R9471:Pramel23 UTSW 4 143,423,749 (GRCm39) missense probably damaging 1.00
R9517:Pramel23 UTSW 4 143,424,930 (GRCm39) missense possibly damaging 0.95
Z1088:Pramel23 UTSW 4 143,424,650 (GRCm39) missense probably benign
Z1176:Pramel23 UTSW 4 143,423,515 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGCATTCTTTCAGGTTGCC -3'
(R):5'- ACTCATCTCAAACTCATGGAGG -3'

Posted On 2017-07-14