Incidental Mutation 'R4380:Pramel23'
ID 325287
Institutional Source Beutler Lab
Gene Symbol Pramel23
Ensembl Gene ENSMUSG00000070617
Gene Name PRAME like 23
Synonyms Gm13089
MMRRC Submission 041678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4380 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143423070-143429281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143424856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 196 (I196F)
Ref Sequence ENSEMBL: ENSMUSP00000073224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073532]
AlphaFold A2AGW7
Predicted Effect probably benign
Transcript: ENSMUST00000073532
AA Change: I196F

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: I196F

DomainStartEndE-ValueType
low complexity region 204 216 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik T C 7: 44,326,580 (GRCm39) noncoding transcript Het
Casc3 C A 11: 98,713,857 (GRCm39) P363Q possibly damaging Het
Cep162 C A 9: 87,082,056 (GRCm39) R1283L probably damaging Het
Clk3 C A 9: 57,659,075 (GRCm39) W562L probably damaging Het
Col17a1 G A 19: 47,645,529 (GRCm39) T844M possibly damaging Het
Dntt G C 19: 41,041,672 (GRCm39) G452A probably damaging Het
Dop1b G A 16: 93,513,120 (GRCm39) V20I possibly damaging Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
Dync1li2 A T 8: 105,154,798 (GRCm39) I270N probably damaging Het
Egflam A T 15: 7,273,350 (GRCm39) I575N possibly damaging Het
Gldc G T 19: 30,138,168 (GRCm39) probably benign Het
Gm17067 C A 7: 42,357,462 (GRCm39) V347L probably benign Het
Gmds T A 13: 32,101,679 (GRCm39) N304I probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Igfn1 T C 1: 135,895,509 (GRCm39) T1686A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamb3 A T 1: 193,013,683 (GRCm39) Q519L probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Macf1 A G 4: 123,248,285 (GRCm39) probably benign Het
Mcfd2 C G 17: 87,565,387 (GRCm39) G39R possibly damaging Het
Mecom T C 3: 30,041,219 (GRCm39) H125R probably damaging Het
Nme7 A G 1: 164,172,807 (GRCm39) T173A probably benign Het
Or4s2b A G 2: 88,508,615 (GRCm39) T132A possibly damaging Het
Or5ac15 C T 16: 58,940,027 (GRCm39) M135I probably benign Het
Pde1c T A 6: 56,049,263 (GRCm39) R683S probably null Het
Pkn2 A T 3: 142,536,217 (GRCm39) probably benign Het
Plppr4 T G 3: 117,116,046 (GRCm39) T604P probably benign Het
Slc34a2 C T 5: 53,226,628 (GRCm39) P584S probably damaging Het
Slco5a1 A T 1: 13,009,392 (GRCm39) M361K probably damaging Het
Snx4 T A 16: 33,084,666 (GRCm39) I60N probably damaging Het
Sp6 T C 11: 96,912,572 (GRCm39) L95P probably damaging Het
Stat5b A G 11: 100,678,175 (GRCm39) F646S probably damaging Het
Tbc1d1 T C 5: 64,490,891 (GRCm39) M785T probably benign Het
Tbc1d22a T A 15: 86,235,935 (GRCm39) C365S probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Tnfsf8 A T 4: 63,779,264 (GRCm39) C11* probably null Het
Ttn A T 2: 76,748,485 (GRCm39) V4188E probably damaging Het
Ugt2b5 T A 5: 87,275,753 (GRCm39) H366L probably damaging Het
Wdr17 T C 8: 55,101,442 (GRCm39) probably benign Het
Zfhx3 A G 8: 109,683,022 (GRCm39) Y3487C unknown Het
Zfp28 C T 7: 6,396,441 (GRCm39) T292I 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
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'- TACAGAGTTTCTCGAGATGTTGGAG -3'
(R):5'- TGGAACAGAAGCAGCCTGAC -3'

Sequencing Primer
(F):5'- TGGGAAGTTGAGATATCAATGTGATC -3'
(R):5'- AGCCTGACTGTGGGGTGAAG -3'
Posted On 2015-07-06