Incidental Mutation 'R9517:Pramel23'
ID 718637
Institutional Source Beutler Lab
Gene Symbol Pramel23
Ensembl Gene ENSMUSG00000070617
Gene Name PRAME like 23
Synonyms Gm13089
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R9517 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 143423070-143429281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143424930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 171 (D171V)
Ref Sequence ENSEMBL: ENSMUSP00000073224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073532]
AlphaFold A2AGW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000073532
AA Change: D171V

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: D171V

DomainStartEndE-ValueType
low complexity region 204 216 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,113,528 (GRCm39) V264E probably damaging Het
Abca15 A G 7: 119,987,424 (GRCm39) I1237V probably benign Het
Actn2 G T 13: 12,295,317 (GRCm39) Q552K probably damaging Het
Adnp A T 2: 168,024,866 (GRCm39) C810S possibly damaging Het
Aip A T 19: 4,168,217 (GRCm39) I50K possibly damaging Het
Arsk A G 13: 76,210,638 (GRCm39) S470P probably damaging Het
Aspm T A 1: 139,407,167 (GRCm39) I2018K probably damaging Het
Aspn G A 13: 49,705,275 (GRCm39) D46N Het
C6 G T 15: 4,827,914 (GRCm39) C761F probably damaging Het
Cdk12 A T 11: 98,109,910 (GRCm39) T644S unknown Het
Cela3a T A 4: 137,131,825 (GRCm39) I123F probably damaging Het
Chchd3 A T 6: 33,026,317 (GRCm39) S42T probably benign Het
Chst5 A G 8: 112,616,652 (GRCm39) S323P possibly damaging Het
Clec4g C A 8: 3,767,452 (GRCm39) A198S probably damaging Het
Dcbld2 T G 16: 58,253,819 (GRCm39) D185E probably benign Het
Dnah17 A G 11: 117,915,440 (GRCm39) V4393A possibly damaging Het
Dock9 T C 14: 121,829,236 (GRCm39) T1392A probably benign Het
Ell2 A G 13: 75,912,106 (GRCm39) K464R possibly damaging Het
Eme2 G A 17: 25,114,033 (GRCm39) probably benign Het
Eps8l1 T A 7: 4,480,636 (GRCm39) I530N probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbxw25 A G 9: 109,480,892 (GRCm39) Y263H Het
Frem1 T C 4: 82,901,714 (GRCm39) Y938C probably damaging Het
Gdf10 A G 14: 33,654,522 (GRCm39) D343G probably benign Het
Gm3415 C T 5: 146,493,406 (GRCm39) R84C possibly damaging Het
Hap1 A T 11: 100,240,188 (GRCm39) V536D possibly damaging Het
Icos T C 1: 61,032,894 (GRCm39) F31S probably damaging Het
Inpp5d T A 1: 87,638,853 (GRCm39) S812T probably benign Het
Kcng4 A G 8: 120,353,070 (GRCm39) V280A probably benign Het
Ldlr T C 9: 21,655,240 (GRCm39) V623A possibly damaging Het
Lipc T C 9: 70,709,560 (GRCm39) T396A probably benign Het
Lrit2 T A 14: 36,794,272 (GRCm39) C445* probably null Het
Lrrc37 G A 11: 103,433,416 (GRCm39) T3251I unknown Het
Mcc C A 18: 44,794,794 (GRCm39) G10C probably damaging Het
Mtfr1l T C 4: 134,256,515 (GRCm39) T217A probably benign Het
Mtrr A T 13: 68,728,730 (GRCm39) S23R probably benign Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myo7a A T 7: 97,721,166 (GRCm39) D1255E probably damaging Het
Nfatc1 T C 18: 80,725,406 (GRCm39) K453E probably damaging Het
Nrap A T 19: 56,360,277 (GRCm39) M466K probably benign Het
Or10j3 C A 1: 173,031,346 (GRCm39) A141D possibly damaging Het
Or11g26 C A 14: 50,752,770 (GRCm39) F36L probably benign Het
Or4c106 G A 2: 88,682,947 (GRCm39) V218I probably benign Het
Or4f54 T G 2: 111,123,033 (GRCm39) M140R possibly damaging Het
Or8b41 T A 9: 38,054,623 (GRCm39) M59K probably damaging Het
Osbpl1a A G 18: 13,042,965 (GRCm39) V192A probably benign Het
Pgd T C 4: 149,249,668 (GRCm39) T35A possibly damaging Het
Plcxd3 G T 15: 4,405,160 (GRCm39) probably benign Het
Prmt7 A G 8: 106,953,930 (GRCm39) T124A probably damaging Het
Pzp A G 6: 128,489,117 (GRCm39) probably null Het
Rilpl2 A G 5: 124,607,788 (GRCm39) V144A probably benign Het
Rin3 T C 12: 102,334,895 (GRCm39) S269P unknown Het
Setbp1 T C 18: 78,901,322 (GRCm39) S782G probably damaging Het
Sgce A T 6: 4,694,153 (GRCm39) F268I probably damaging Het
Sox6 A G 7: 115,111,970 (GRCm39) L552S possibly damaging Het
Tent4a A G 13: 69,655,059 (GRCm39) C472R probably damaging Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r11 A G 6: 57,114,555 (GRCm39) D73G possibly damaging Het
Vmn1r39 A C 6: 66,782,258 (GRCm39) I20R possibly damaging Het
Vmn2r82 C T 10: 79,213,641 (GRCm39) R76* probably null Het
Zhx1 A T 15: 57,915,812 (GRCm39) Y811* probably null 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
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
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'- TAGATTCACCCATACTGACAGTAC -3'
(R):5'- CAAGGAATATGGCCTGGGTC -3'

Sequencing Primer
(F):5'- ACCCATACTGACAGTACCTTTG -3'
(R):5'- AATATGGCCTGGGTCCCATG -3'
Posted On 2022-07-18