Incidental Mutation 'IGL03279:Pnma5'
ID415533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnma5
Ensembl Gene ENSMUSG00000050424
Gene Nameparaneoplastic antigen family 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03279
Quality Score
Status
ChromosomeX
Chromosomal Location73033981-73037103 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 73035999 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 359 (T359I)
Ref Sequence ENSEMBL: ENSMUSP00000110187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051569] [ENSMUST00000114540] [ENSMUST00000114546] [ENSMUST00000164800]
Predicted Effect probably benign
Transcript: ENSMUST00000051569
AA Change: T359I

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063061
Gene: ENSMUSG00000050424
AA Change: T359I

DomainStartEndE-ValueType
Pfam:PNMA 1 324 4.4e-133 PFAM
low complexity region 329 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114540
AA Change: T359I

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110187
Gene: ENSMUSG00000050424
AA Change: T359I

DomainStartEndE-ValueType
Pfam:PNMA 1 324 4.4e-133 PFAM
low complexity region 329 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114546
SMART Domains Protein: ENSMUSP00000110193
Gene: ENSMUSG00000031351

DomainStartEndE-ValueType
LIM 424 480 2.87e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000152209
AA Change: T35I
SMART Domains Protein: ENSMUSP00000114161
Gene: ENSMUSG00000050424
AA Change: T35I

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164800
SMART Domains Protein: ENSMUSP00000126066
Gene: ENSMUSG00000031351

DomainStartEndE-ValueType
LIM 425 481 2.87e-6 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 120,013,678 D224V probably damaging Het
Abca4 C A 3: 122,141,732 N1526K probably benign Het
Aif1 T A 17: 35,171,547 K76* probably null Het
Arap2 A G 5: 62,621,910 S1446P probably damaging Het
Cyb5rl A T 4: 107,084,128 E250V possibly damaging Het
Dock3 T C 9: 106,911,248 probably benign Het
Dppa2 A G 16: 48,311,665 T42A possibly damaging Het
Drosha C T 15: 12,859,392 P562L probably benign Het
Egfl7 C A 2: 26,590,707 H126N probably benign Het
Gm5852 T C 3: 93,727,277 noncoding transcript Het
Gpr161 T C 1: 165,310,529 F228S probably damaging Het
Grid1 T A 14: 34,945,765 M83K probably damaging Het
Gsdma2 T C 11: 98,657,723 S434P unknown Het
Hao2 T A 3: 98,880,396 N239I possibly damaging Het
Hsd17b14 A T 7: 45,566,193 I206F possibly damaging Het
Kansl1l A T 1: 66,735,666 V667E probably damaging Het
Kdm3a T C 6: 71,611,675 D450G probably benign Het
Lmo7 C A 14: 101,900,508 A882E probably benign Het
P4ha3 A G 7: 100,300,686 Y254C probably damaging Het
Pcdh15 A G 10: 74,317,072 Y408C probably damaging Het
Pglyrp3 T C 3: 92,026,527 Y160H probably damaging Het
Ptbp3 A T 4: 59,476,937 H440Q possibly damaging Het
Rbx1 A G 15: 81,468,198 N41S probably damaging Het
Rpl3 G A 15: 80,078,359 T340I probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Sema6a A T 18: 47,300,090 C91* probably null Het
Slco6d1 T A 1: 98,466,680 V363E probably damaging Het
Stk38 A G 17: 28,984,205 probably benign Het
Tanc2 G A 11: 105,913,092 probably null Het
Thada A G 17: 84,435,560 F812S probably benign Het
Tubb4b-ps1 A G 5: 7,179,630 probably benign Het
Veph1 T C 3: 66,255,022 T72A probably damaging Het
Vps52 T A 17: 33,957,874 D67E probably damaging Het
Other mutations in Pnma5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02864:Pnma5 APN X 73035851 missense probably benign 0.04
R4280:Pnma5 UTSW X 73035430 missense probably benign 0.07
R4281:Pnma5 UTSW X 73035430 missense probably benign 0.07
R4282:Pnma5 UTSW X 73035430 missense probably benign 0.07
Posted On2016-08-02