Incidental Mutation 'R4282:Pnma5'
ID 322972
Institutional Source Beutler Lab
Gene Symbol Pnma5
Ensembl Gene ENSMUSG00000050424
Gene Name paraneoplastic antigen family 5
Synonyms
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4282 (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: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging 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
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G 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
R4280:Pnma5 UTSW X 72,079,036 (GRCm39) missense probably benign 0.07
R4281:Pnma5 UTSW X 72,079,036 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AAAGGACTCAAGGGTGCTGC -3'
(R):5'- TAAGGCACCCAACTTCTTACTAG -3'

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