Incidental Mutation 'R8674:Pramel42'
ID 661296
Institutional Source Beutler Lab
Gene Symbol Pramel42
Ensembl Gene ENSMUSG00000095074
Gene Name PRAME like 42
Synonyms Gm3139
MMRRC Submission 068529-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8674 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 94674143-94686226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94685605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 422 (C422R)
Ref Sequence ENSEMBL: ENSMUSP00000144005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178330] [ENSMUST00000201138] [ENSMUST00000202642]
AlphaFold J3QK78
Predicted Effect probably damaging
Transcript: ENSMUST00000178330
AA Change: C422R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137485
Gene: ENSMUSG00000095074
AA Change: C422R

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201138
Predicted Effect probably damaging
Transcript: ENSMUST00000202642
AA Change: C422R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144005
Gene: ENSMUSG00000095074
AA Change: C422R

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,956,696 (GRCm39) I165V probably benign Het
Adgrg1 A T 8: 95,727,526 (GRCm39) probably benign Het
Ahnak T C 19: 8,983,360 (GRCm39) I1548T probably damaging Het
Alox12b A G 11: 69,054,801 (GRCm39) Y268C possibly damaging Het
Chd8 T C 14: 52,450,463 (GRCm39) D1465G probably damaging Het
Csgalnact1 A G 8: 68,826,268 (GRCm39) V350A possibly damaging Het
Cyp4a29 A T 4: 115,106,882 (GRCm39) I180F probably benign Het
Dcaf1 T A 9: 106,740,896 (GRCm39) D1294E probably damaging Het
Defb47 T C 14: 63,235,579 (GRCm39) L10P possibly damaging Het
Gpr179 T C 11: 97,225,873 (GRCm39) E2094G probably benign Het
Gtse1 C A 15: 85,746,376 (GRCm39) P64Q probably damaging Het
Gys2 A G 6: 142,376,048 (GRCm39) V538A probably benign Het
Hmgxb3 G A 18: 61,269,303 (GRCm39) S993L probably benign Het
Lgals8 A T 13: 12,462,117 (GRCm39) F238I probably damaging Het
Ltn1 A C 16: 87,195,673 (GRCm39) D1284E probably benign Het
Myh10 A G 11: 68,705,257 (GRCm39) E1925G probably damaging Het
Nck1 T C 9: 100,390,580 (GRCm39) N43S probably damaging Het
Nsun5 C A 5: 135,400,394 (GRCm39) T145N probably damaging Het
Or10d1 T C 9: 39,484,249 (GRCm39) Y102C probably damaging Het
Or10d3 A G 9: 39,461,675 (GRCm39) F164S probably damaging Het
Or10x4 A G 1: 174,219,258 (GRCm39) T208A probably damaging Het
Or4c103 T A 2: 88,513,774 (GRCm39) T101S probably benign Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Ppp4r4 A G 12: 103,562,720 (GRCm39) E563G probably damaging Het
Rab11fip5 T A 6: 85,318,910 (GRCm39) M660L probably benign Het
Rbm47 T A 5: 66,176,742 (GRCm39) N527I possibly damaging Het
Rpl12 T A 2: 32,852,122 (GRCm39) probably benign Het
Slc22a14 C A 9: 119,007,467 (GRCm39) W314L probably null Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Sphkap A G 1: 83,255,565 (GRCm39) V728A probably benign Het
Spint4 T A 2: 164,542,902 (GRCm39) probably null Het
Sptbn1 A G 11: 30,089,352 (GRCm39) S637P possibly damaging Het
Trpm7 T C 2: 126,641,086 (GRCm39) probably benign Het
Trrap C T 5: 144,727,842 (GRCm39) T521I probably benign Het
Vmn2r44 T C 7: 8,380,822 (GRCm39) Y357C probably damaging Het
Vwa2 A G 19: 56,875,427 (GRCm39) D82G possibly damaging Het
Zdhhc17 A G 10: 110,785,540 (GRCm39) I424T probably benign Het
Zmiz1 A G 14: 25,647,410 (GRCm39) I409M probably benign Het
Zscan18 T C 7: 12,504,827 (GRCm39) probably benign Het
Other mutations in Pramel42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Pramel42 APN 5 94,685,663 (GRCm39) missense probably damaging 1.00
R4446:Pramel42 UTSW 5 94,685,702 (GRCm39) missense probably damaging 0.99
R7189:Pramel42 UTSW 5 94,685,610 (GRCm39) nonsense probably null
R7233:Pramel42 UTSW 5 94,685,524 (GRCm39) missense probably benign 0.01
R7935:Pramel42 UTSW 5 94,685,440 (GRCm39) missense probably damaging 1.00
R8970:Pramel42 UTSW 5 94,685,645 (GRCm39) missense probably benign
R9560:Pramel42 UTSW 5 94,685,640 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GGTCTCCTAGGAAAACTGGCAG -3'
(R):5'- TGCAAACAGGAACAAAGCCTTG -3'

Sequencing Primer
(F):5'- AACTGGCAGGTACTCTTAAGTCTCTG -3'
(R):5'- ACAAAGCCTTGCCCCCTGG -3'
Posted On 2021-03-08