Incidental Mutation 'IGL00095:Pramel42'
ID 306537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pramel42
Ensembl Gene ENSMUSG00000095074
Gene Name PRAME like 42
Synonyms Gm3139
Accession Numbers
Essential gene? Not available question?
Stock # IGL00095
Quality Score
Status
Chromosome 5
Chromosomal Location 94674143-94686226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94685663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 441 (L441P)
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: L441P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137485
Gene: ENSMUSG00000095074
AA Change: L441P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201138
Predicted Effect probably damaging
Transcript: ENSMUST00000202642
AA Change: L441P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144005
Gene: ENSMUSG00000095074
AA Change: L441P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,679,639 (GRCm39) Y65N probably damaging Het
Catsperg2 C A 7: 29,397,483 (GRCm39) C1042F possibly damaging Het
Cluh T C 11: 74,554,890 (GRCm39) V776A probably benign Het
Crxos T A 7: 15,632,543 (GRCm39) C116* probably null Het
Csmd1 A G 8: 16,059,297 (GRCm39) probably benign Het
Cubn C A 2: 13,496,631 (GRCm39) probably benign Het
Exoc2 A G 13: 31,004,609 (GRCm39) I858T probably benign Het
Frmpd1 C A 4: 45,279,456 (GRCm39) T727K possibly damaging Het
Hapln3 T C 7: 78,771,731 (GRCm39) T53A probably damaging Het
Hnrnpul1 T A 7: 25,425,579 (GRCm39) Q584L possibly damaging Het
Ikbkb A T 8: 23,196,127 (GRCm39) F26I probably damaging Het
Il31ra A T 13: 112,684,012 (GRCm39) I120N possibly damaging Het
Itih1 C T 14: 30,651,778 (GRCm39) V855M probably benign Het
Krtap4-16 A G 11: 99,742,032 (GRCm39) S123P possibly damaging Het
Large1 C T 8: 73,564,125 (GRCm39) R547Q probably damaging Het
Madd A G 2: 91,006,111 (GRCm39) probably benign Het
Mark1 A G 1: 184,630,800 (GRCm39) V770A probably damaging Het
Mpeg1 T C 19: 12,440,074 (GRCm39) F511L probably benign Het
Mrgpra9 A G 7: 46,884,839 (GRCm39) V276A possibly damaging Het
Nav3 T C 10: 109,677,594 (GRCm39) T666A probably damaging Het
Ndufa8 T C 2: 35,934,467 (GRCm39) D37G probably damaging Het
Nlrx1 A G 9: 44,164,576 (GRCm39) L956P probably damaging Het
Nr5a1 T C 2: 38,598,353 (GRCm39) E148G probably benign Het
Or10ab5 A T 7: 108,245,043 (GRCm39) F247I possibly damaging Het
Or14c46 T C 7: 85,918,877 (GRCm39) N40S probably damaging Het
Otulinl A G 15: 27,658,202 (GRCm39) S273P possibly damaging Het
Patj A C 4: 98,423,799 (GRCm39) Q1184P possibly damaging Het
Phf20l1 A G 15: 66,500,884 (GRCm39) T619A probably benign Het
Pla2g6 T C 15: 79,173,441 (GRCm39) T643A probably damaging Het
Radil A G 5: 142,483,677 (GRCm39) S510P probably damaging Het
Spock1 A G 13: 57,735,552 (GRCm39) probably benign Het
Stag3 C T 5: 138,297,400 (GRCm39) T577M probably damaging Het
Tap2 C T 17: 34,434,352 (GRCm39) R613C probably benign Het
Tnn A G 1: 159,953,021 (GRCm39) V673A possibly damaging Het
Trrap T C 5: 144,716,784 (GRCm39) probably benign Het
Vmn2r28 T C 7: 5,491,068 (GRCm39) D393G probably benign Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Zc3h12d T C 10: 7,738,231 (GRCm39) V179A probably damaging Het
Other mutations in Pramel42
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9560:Pramel42 UTSW 5 94,685,640 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16