Incidental Mutation 'R4281:Pnma5'
ID 322917
Institutional Source Beutler Lab
Gene Symbol Pnma5
Ensembl Gene ENSMUSG00000050424
Gene Name paraneoplastic antigen family 5
Synonyms
MMRRC Submission 041649-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4281 (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: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 92% (44/48)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
B9d2 A G 7: 25,380,851 (GRCm39) T14A possibly damaging Het
Cavin3 A C 7: 105,130,981 (GRCm39) probably null Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnaaf11 A T 15: 66,252,378 (GRCm39) H429Q probably benign Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Evc2 T C 5: 37,495,938 (GRCm39) V16A probably benign Het
Fam210b T C 2: 172,193,468 (GRCm39) Y94H probably damaging Het
Gimap8 A C 6: 48,635,754 (GRCm39) R506S probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Gsn A G 2: 35,188,883 (GRCm39) Y434C probably damaging Het
Gtf2a1l A G 17: 89,019,065 (GRCm39) N383S possibly damaging Het
Hepacam2 G A 6: 3,475,938 (GRCm39) T329I probably damaging Het
Iqgap3 T C 3: 88,006,167 (GRCm39) V526A probably benign Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Mark4 T C 7: 19,167,371 (GRCm39) K456R probably benign Het
Nox4 A G 7: 86,946,732 (GRCm39) I143V possibly damaging Het
Or11h7 T C 14: 50,891,029 (GRCm39) C112R probably benign Het
Or12j3 A G 7: 139,953,385 (GRCm39) I46T probably benign Het
Pcdh18 A G 3: 49,710,982 (GRCm39) L111P possibly damaging Het
Pnpla6 T C 8: 3,571,513 (GRCm39) L148P probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Prkdc A G 16: 15,623,963 (GRCm39) probably null Het
Rars1 T C 11: 35,712,051 (GRCm39) E275G probably damaging Het
Rasa3 A G 8: 13,638,946 (GRCm39) V287A probably benign Het
Rimbp2 C T 5: 128,865,404 (GRCm39) R641Q possibly damaging Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tmem132a C G 19: 10,839,090 (GRCm39) E451Q possibly damaging Het
Tmem229b-ps A G 10: 53,351,474 (GRCm39) noncoding transcript Het
Trim33 T A 3: 103,236,402 (GRCm39) V504D probably damaging Het
Usp47 A T 7: 111,709,200 (GRCm39) E1315D 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
Zfp612 A G 8: 110,816,691 (GRCm39) I594V probably damaging Het
Zfp692 T C 11: 58,205,091 (GRCm39) F447L probably damaging Het
Zranb3 A C 1: 127,891,614 (GRCm39) S787R possibly 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
R4280: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'- CCCCTAGAGCTGTGTAGATGATC -3'
(R):5'- CATGAGTGTTGCAGAAGGGC -3'

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