Incidental Mutation 'R9560:Pramel42'
ID 720952
Institutional Source Beutler Lab
Gene Symbol Pramel42
Ensembl Gene ENSMUSG00000095074
Gene Name PRAME like 42
Synonyms Gm3139
Accession Numbers
Essential gene? Not available question?
Stock # R9560 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 94674143-94686226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94685640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 433 (R433S)
Ref Sequence ENSEMBL: ENSMUSP00000144005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178330] [ENSMUST00000201138] [ENSMUST00000202642]
AlphaFold J3QK78
Predicted Effect possibly damaging
Transcript: ENSMUST00000178330
AA Change: R433S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137485
Gene: ENSMUSG00000095074
AA Change: R433S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201138
Predicted Effect possibly damaging
Transcript: ENSMUST00000202642
AA Change: R433S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144005
Gene: ENSMUSG00000095074
AA Change: R433S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,082 (GRCm39) R502G probably damaging Het
A930004D18Rik G A 2: 18,032,218 (GRCm39) probably benign Het
Abhd16b T A 2: 181,135,103 (GRCm39) C2S probably damaging Het
Adam2 T C 14: 66,275,102 (GRCm39) M544V probably benign Het
Agbl3 T A 6: 34,823,843 (GRCm39) V841E possibly damaging Het
Aldh1l1 A G 6: 90,536,825 (GRCm39) D127G probably damaging Het
Ap1b1 G A 11: 4,976,363 (GRCm39) E464K probably benign Het
Cdh19 T A 1: 110,821,004 (GRCm39) E578V possibly damaging Het
Chat G A 14: 32,170,942 (GRCm39) Q186* probably null Het
Cited4 A G 4: 120,524,165 (GRCm39) T56A probably benign Het
Cpt1a T C 19: 3,402,531 (GRCm39) L63P possibly damaging Het
Havcr2 C A 11: 46,347,164 (GRCm39) A47E probably benign Het
Hdgfl1 C T 13: 26,953,239 (GRCm39) G278E probably damaging Het
Klf5 A T 14: 99,539,034 (GRCm39) Q149L probably benign Het
Klk10 A G 7: 43,433,746 (GRCm39) Y186C probably damaging Het
Krt79 C T 15: 101,846,277 (GRCm39) E224K probably damaging Het
Llgl2 A G 11: 115,725,682 (GRCm39) D10G probably damaging Het
Lrrc37a C T 11: 103,347,420 (GRCm39) V3092I unknown Het
Minar1 G T 9: 89,484,531 (GRCm39) Q289K probably benign Het
Nbeal1 A G 1: 60,368,544 (GRCm39) T2630A probably damaging Het
Ncor1 T C 11: 62,263,948 (GRCm39) T485A possibly damaging Het
Olfr908 G A 9: 38,427,385 (GRCm39) S19N probably benign Het
Or10h1b C T 17: 33,395,868 (GRCm39) T164M probably damaging Het
Or10h5 G A 17: 33,434,986 (GRCm39) H111Y probably damaging Het
Or4c104 A C 2: 88,586,290 (GRCm39) I243S possibly damaging Het
Patj G A 4: 98,570,289 (GRCm39) E1705K probably benign Het
Pcdh17 T A 14: 84,770,898 (GRCm39) D1125E probably benign Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pnliprp2 T C 19: 58,762,523 (GRCm39) V376A possibly damaging Het
Scn1a A T 2: 66,158,131 (GRCm39) L414Q probably damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Slc22a23 A G 13: 34,381,851 (GRCm39) V411A possibly damaging Het
Slco1c1 T C 6: 141,515,076 (GRCm39) V657A probably benign Het
Slco3a1 A T 7: 74,153,931 (GRCm39) Y214N probably damaging Het
Sned1 A G 1: 93,202,110 (GRCm39) T633A probably damaging Het
Tmem175 T C 5: 108,789,693 (GRCm39) F96S probably damaging Het
Tmf1 C T 6: 97,147,293 (GRCm39) E558K possibly damaging Het
Tsbp1 A T 17: 34,663,016 (GRCm39) Q103H probably damaging Het
Ubac2 G A 14: 122,145,636 (GRCm39) G98D possibly damaging Het
Unc50 T A 1: 37,476,248 (GRCm39) V136D possibly damaging Het
Vmn1r49 T A 6: 90,049,382 (GRCm39) M207L probably benign Het
Zfp853 T C 5: 143,275,080 (GRCm39) E195G unknown Het
Zfyve9 A T 4: 108,575,334 (GRCm39) N582K possibly damaging 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
R8674:Pramel42 UTSW 5 94,685,605 (GRCm39) missense probably damaging 1.00
R8970:Pramel42 UTSW 5 94,685,645 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGTCAATGCTCTCAGCTCAAC -3'
(R):5'- TCTGAAGTCACAGTCTCTGAGC -3'

Sequencing Primer
(F):5'- TGCTCTCAGCTCAACCAGATC -3'
(R):5'- ACAGTCTCTGAGCACCTTGGATG -3'
Posted On 2022-08-09