Incidental Mutation 'R4280:Pnma5'
ID 322875
Institutional Source Beutler Lab
Gene Symbol Pnma5
Ensembl Gene ENSMUSG00000050424
Gene Name paraneoplastic antigen family 5
Synonyms
MMRRC Submission 041648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4280 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 72077587-72080709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72079036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 549 (M549V)
Ref Sequence ENSEMBL: ENSMUSP00000110187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051569] [ENSMUST00000114540] [ENSMUST00000114546] [ENSMUST00000164800]
AlphaFold Q5DTT8
Predicted Effect probably benign
Transcript: ENSMUST00000051569
AA Change: M549V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000063061
Gene: ENSMUSG00000050424
AA Change: M549V

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: M549V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110187
Gene: ENSMUSG00000050424
AA Change: M549V

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: M225V
SMART Domains Protein: ENSMUSP00000114161
Gene: ENSMUSG00000050424
AA Change: M225V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 T C 9: 32,171,185 (GRCm39) C1322R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arvcf G A 16: 18,216,741 (GRCm39) R292H probably damaging Het
Ccdc102a C A 8: 95,634,444 (GRCm39) G382* probably null Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cep76 T A 18: 67,773,229 (GRCm39) D23V probably benign Het
Cimip3 T C 17: 47,724,780 (GRCm39) M17V probably benign Het
Clec12a A G 6: 129,340,892 (GRCm39) Y224C probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Ctr9 A G 7: 110,645,930 (GRCm39) probably benign Het
Dgat2 A G 7: 98,808,204 (GRCm39) I157T probably damaging Het
Epha1 G T 6: 42,341,986 (GRCm39) P355T probably damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hephl1 A G 9: 15,023,330 (GRCm39) V24A probably benign Het
Itgb4 T A 11: 115,881,761 (GRCm39) M771K probably damaging Het
Mov10 A C 3: 104,707,095 (GRCm39) F635V probably damaging Het
Mtres1 A T 10: 43,408,905 (GRCm39) F79L probably benign Het
Or10ag60 A G 2: 87,438,595 (GRCm39) T288A possibly damaging Het
Or5an9 A G 19: 12,187,302 (GRCm39) Y124C probably damaging Het
Pbrm1 T C 14: 30,829,269 (GRCm39) probably null Het
Plscr1l1 T C 9: 92,225,701 (GRCm39) Y8H possibly damaging Het
Plxnd1 A T 6: 115,933,056 (GRCm39) probably null Het
Plxnd1 C A 6: 115,933,055 (GRCm39) probably benign Het
Polq C A 16: 36,902,419 (GRCm39) Q2205K probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Pramel24 A G 4: 143,452,592 (GRCm39) T8A possibly damaging Het
Psma8 T A 18: 14,854,292 (GRCm39) D57E probably benign Het
Rbm47 T C 5: 66,183,520 (GRCm39) Y361C probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Rrp36 G A 17: 46,983,302 (GRCm39) T104I probably damaging Het
Rrs1 G A 1: 9,616,364 (GRCm39) G206S probably damaging Het
Scgb2b6 A G 7: 31,318,367 (GRCm39) noncoding transcript Het
Skint5 T A 4: 113,799,749 (GRCm39) K126I probably damaging Het
Slc38a10 C T 11: 120,028,704 (GRCm39) G202D probably damaging Het
Supt5 G A 7: 28,016,498 (GRCm39) R761W probably damaging Het
Tmtc2 A G 10: 105,184,294 (GRCm39) probably null Het
Tob1 T C 11: 94,105,148 (GRCm39) V228A probably benign Het
Traj44 T C 14: 54,411,148 (GRCm39) probably benign Het
Trps1 G A 15: 50,709,478 (GRCm39) L291F probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ush2a A G 1: 188,310,658 (GRCm39) Q2078R probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Pnma5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02864:Pnma5 APN X 72,079,457 (GRCm39) missense probably benign 0.04
IGL03279:Pnma5 APN X 72,079,605 (GRCm39) missense probably benign 0.34
R4281:Pnma5 UTSW X 72,079,036 (GRCm39) missense probably benign 0.07
R4282:Pnma5 UTSW X 72,079,036 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AAAGGACTCAAGGGTGCTGC -3'
(R):5'- GCACCCAACTTCTTACTAGCTAG -3'

Sequencing Primer
(F):5'- ATGATCCTGAAGACAGGC -3'
(R):5'- CCCAACTTCTTACTAGCTAGAAATG -3'
Posted On 2015-06-20