Incidental Mutation 'R1690:Pramel23'
ID 191708
Institutional Source Beutler Lab
Gene Symbol Pramel23
Ensembl Gene ENSMUSG00000070617
Gene Name PRAME like 23
Synonyms Gm13089
MMRRC Submission 039723-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1690 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143423070-143429281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143424693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 250 (E250G)
Ref Sequence ENSEMBL: ENSMUSP00000073224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073532]
AlphaFold A2AGW7
Predicted Effect probably benign
Transcript: ENSMUST00000073532
AA Change: E250G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: E250G

DomainStartEndE-ValueType
low complexity region 204 216 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A G 7: 28,610,950 (GRCm39) S263P probably damaging Het
Adcy10 A G 1: 165,347,494 (GRCm39) E403G probably damaging Het
Adgrg7 A T 16: 56,615,993 (GRCm39) V11E probably damaging Het
Arhgap35 A G 7: 16,297,206 (GRCm39) C620R probably damaging Het
Cfap43 A G 19: 47,739,505 (GRCm39) probably null Het
Cfap54 A G 10: 92,871,304 (GRCm39) S639P possibly damaging Het
Csf2rb T C 15: 78,232,844 (GRCm39) V717A probably benign Het
D17H6S53E A G 17: 35,346,188 (GRCm39) D33G possibly damaging Het
Dpf2 C T 19: 5,955,490 (GRCm39) R131Q probably damaging Het
Dtx3l C T 16: 35,753,638 (GRCm39) A323T probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgf15 A G 7: 144,453,665 (GRCm39) S213G probably damaging Het
Fmn1 T A 2: 113,355,827 (GRCm39) F756Y unknown Het
Hnrnpk T A 13: 58,548,168 (GRCm39) T13S probably benign Het
Htr3b T A 9: 48,848,394 (GRCm39) M284L possibly damaging Het
Itgal T C 7: 126,901,289 (GRCm39) M225T possibly damaging Het
Lipi A G 16: 75,338,013 (GRCm39) Y454H probably damaging Het
Lrit3 T C 3: 129,594,394 (GRCm39) K61R probably damaging Het
Lta4h A G 10: 93,320,554 (GRCm39) D583G probably benign Het
Mettl17 T A 14: 52,128,918 (GRCm39) V396D probably damaging Het
Nlrc4 G A 17: 74,744,518 (GRCm39) R788* probably null Het
Or8k25 T A 2: 86,244,298 (GRCm39) I33F probably benign Het
Pepd G A 7: 34,730,782 (GRCm39) G278D probably damaging Het
Prkcsh T A 9: 21,921,871 (GRCm39) D245E probably damaging Het
Prlr A T 15: 10,317,676 (GRCm39) D84V probably damaging Het
Pth2r C T 1: 65,411,462 (GRCm39) T333I probably benign Het
Ptk2 T A 15: 73,134,459 (GRCm39) I547F probably damaging Het
Rab11fip2 A T 19: 59,925,732 (GRCm39) S162T probably damaging Het
Rnf41 C A 10: 128,271,329 (GRCm39) Q80K possibly damaging Het
Scn7a T G 2: 66,506,287 (GRCm39) D1534A probably damaging Het
Septin12 A G 16: 4,806,378 (GRCm39) V261A probably damaging Het
Sh2d4a T C 8: 68,747,101 (GRCm39) S110P probably benign Het
Soat1 A T 1: 156,272,144 (GRCm39) S114T probably benign Het
Taar8a A G 10: 23,952,813 (GRCm39) Y139C probably damaging Het
Tcf12 A G 9: 71,777,354 (GRCm39) probably null Het
Tmem202 T A 9: 59,426,391 (GRCm39) R258S possibly damaging Het
Ttc39b A T 4: 83,145,414 (GRCm39) I604N probably damaging Het
Vit A G 17: 78,932,294 (GRCm39) D467G probably damaging Het
Zc3hc1 A G 6: 30,390,940 (GRCm39) V21A probably damaging Het
Zfp608 T A 18: 55,120,706 (GRCm39) I294F possibly damaging Het
Zfp825 T A 13: 74,628,781 (GRCm39) H227L 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
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
R6073:Pramel23 UTSW 4 143,424,838 (GRCm39) missense probably damaging 0.99
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'- TCAGAGCCCATCTTCCCTGATATGC -3'
(R):5'- GGGCAGCCTTGATGAATGTGCTAC -3'

Sequencing Primer
(F):5'- CATCATGGACTCCCTAGCG -3'
(R):5'- GATTCAGGGCTCAATCAACG -3'
Posted On 2014-05-14