Incidental Mutation 'R9345:Pnma1'
ID 707768
Institutional Source Beutler Lab
Gene Symbol Pnma1
Ensembl Gene ENSMUSG00000054383
Gene Name paraneoplastic antigen MA1
Synonyms 5730402C15Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9345 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 84192905-84195263 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84194232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 157 (W157L)
Ref Sequence ENSEMBL: ENSMUSP00000060783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046266] [ENSMUST00000061425] [ENSMUST00000110294] [ENSMUST00000123491]
AlphaFold Q8C1C8
Predicted Effect probably benign
Transcript: ENSMUST00000046266
SMART Domains Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 107 117 N/A INTRINSIC
low complexity region 124 132 N/A INTRINSIC
low complexity region 247 265 N/A INTRINSIC
low complexity region 377 388 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
ELM2 715 772 6.76e-14 SMART
low complexity region 798 814 N/A INTRINSIC
SANT 821 869 1.44e-5 SMART
low complexity region 906 926 N/A INTRINSIC
low complexity region 942 956 N/A INTRINSIC
ZnF_C2H2 1030 1052 4.72e-2 SMART
low complexity region 1053 1082 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061425
AA Change: W157L

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060783
Gene: ENSMUSG00000054383
AA Change: W157L

DomainStartEndE-ValueType
Pfam:PNMA 1 326 6e-143 PFAM
low complexity region 330 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110294
SMART Domains Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 107 117 N/A INTRINSIC
low complexity region 124 132 N/A INTRINSIC
low complexity region 247 265 N/A INTRINSIC
low complexity region 377 388 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
ELM2 715 772 6.76e-14 SMART
low complexity region 798 814 N/A INTRINSIC
SANT 821 869 1.44e-5 SMART
low complexity region 906 926 N/A INTRINSIC
low complexity region 942 956 N/A INTRINSIC
ZnF_C2H2 1030 1052 4.72e-2 SMART
low complexity region 1053 1082 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123491
SMART Domains Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523

DomainStartEndE-ValueType
Pfam:LRR_4 93 135 1.4e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,807,869 (GRCm39) I837F probably damaging Het
Acot3 A G 12: 84,103,866 (GRCm39) Y225C probably benign Het
Adam17 A G 12: 21,378,056 (GRCm39) V710A probably damaging Het
Ank3 A G 10: 69,761,899 (GRCm39) probably benign Het
Ankrd60 T A 2: 173,410,610 (GRCm39) K303N possibly damaging Het
Atp10b T A 11: 43,094,024 (GRCm39) S523T probably damaging Het
Bptf A G 11: 106,971,588 (GRCm39) V973A possibly damaging Het
Ccdc24 C T 4: 117,729,691 (GRCm39) W9* probably null Het
Ccdc82 A G 9: 13,281,891 (GRCm39) T439A probably benign Het
Ccne2 C A 4: 11,199,420 (GRCm39) Q274K probably benign Het
Clec11a T C 7: 43,956,189 (GRCm39) M1V probably null Het
Col12a1 T A 9: 79,541,017 (GRCm39) Y2370F probably benign Het
Cyp4a32 C T 4: 115,467,699 (GRCm39) H228Y probably benign Het
Dchs2 G A 3: 83,036,101 (GRCm39) G283S probably benign Het
Dis3 T C 14: 99,318,814 (GRCm39) T659A probably damaging Het
Dock5 T C 14: 68,060,071 (GRCm39) D456G possibly damaging Het
Efr3b T A 12: 4,033,409 (GRCm39) K249* probably null Het
Emilin2 C T 17: 71,581,539 (GRCm39) V396I probably benign Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fasn A T 11: 120,706,735 (GRCm39) S947T probably benign Het
Fryl C T 5: 73,207,754 (GRCm39) C2472Y probably benign Het
Gm3159 A T 14: 4,398,488 (GRCm38) I60L probably benign Het
Gm3402 A T 5: 146,451,330 (GRCm39) N63Y probably damaging Het
Gm49355 C T 14: 12,296,641 (GRCm38) probably benign Het
Grm2 A G 9: 106,528,287 (GRCm39) L199P probably damaging Het
Hck T A 2: 152,992,904 (GRCm39) H470Q probably benign Het
Hsd17b4 T C 18: 50,299,981 (GRCm39) Y413H probably benign Het
Ice1 A G 13: 70,740,758 (GRCm39) F80L Het
Ifrd1 G A 12: 40,267,458 (GRCm39) P38S possibly damaging Het
Itgad A G 7: 127,788,479 (GRCm39) T431A probably benign Het
Kcnd3 A T 3: 105,566,003 (GRCm39) I395F probably damaging Het
Kif20a A G 18: 34,759,779 (GRCm39) E58G probably benign Het
Kras A T 6: 145,192,442 (GRCm39) D30E probably benign Het
Lmbrd1 C T 1: 24,724,593 (GRCm39) A59V probably damaging Het
Lrrc20 T C 10: 61,383,890 (GRCm39) L99P probably damaging Het
Mfn2 T C 4: 147,966,649 (GRCm39) D514G probably benign Het
Myl2 A G 5: 122,242,902 (GRCm39) E96G probably damaging Het
Nppb T G 4: 148,070,518 (GRCm39) L29R probably damaging Het
Or51f1e C T 7: 102,747,713 (GRCm39) A255V possibly damaging Het
Or5ak22 A G 2: 85,230,097 (GRCm39) V260A probably benign Het
Pcdhb14 A G 18: 37,581,281 (GRCm39) H129R probably damaging Het
Pex11g T C 8: 3,509,363 (GRCm39) N188S possibly damaging Het
Pla2g3 A G 11: 3,442,170 (GRCm39) D410G probably benign Het
Pofut2 A G 10: 77,103,090 (GRCm39) Y362C probably damaging Het
Ppp1r14c C A 10: 3,373,567 (GRCm39) S126* probably null Het
Psg27 T C 7: 18,299,081 (GRCm39) H80R probably benign Het
Rere T A 4: 150,554,770 (GRCm39) V156D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Samd8 G A 14: 21,830,227 (GRCm39) V281I probably benign Het
Scarf1 A G 11: 75,404,401 (GRCm39) probably benign Het
Scgb2b27 A G 7: 33,712,722 (GRCm39) L40P probably benign Het
Sdk1 A T 5: 142,147,708 (GRCm39) H1780L probably benign Het
Slc10a6 T C 5: 103,754,521 (GRCm39) T337A probably benign Het
Slc44a4 A T 17: 35,140,219 (GRCm39) D208V probably benign Het
Slco1c1 G T 6: 141,493,553 (GRCm39) C363F probably benign Het
Smg5 T A 3: 88,261,848 (GRCm39) L707Q probably damaging Het
Supt5 A T 7: 28,016,412 (GRCm39) D789E probably benign Het
Tbcd A G 11: 121,464,648 (GRCm39) Y561C probably damaging Het
Tectb T C 19: 55,183,097 (GRCm39) L316P probably benign Het
Thrsp T C 7: 97,066,326 (GRCm39) T129A possibly damaging Het
Tnpo3 T C 6: 29,558,851 (GRCm39) H693R probably benign Het
Trim54 T G 5: 31,294,478 (GRCm39) D335E probably benign Het
Tsr1 A G 11: 74,790,126 (GRCm39) D107G probably benign Het
Ttc41 A T 10: 86,595,089 (GRCm39) E954D probably damaging Het
Ttn A G 2: 76,538,595 (GRCm39) L34701P possibly damaging Het
Vmn1r119 A C 7: 20,746,034 (GRCm39) V116G probably damaging Het
Vmn1r219 G A 13: 23,346,769 (GRCm39) probably benign Het
Zc3h12c T A 9: 52,028,010 (GRCm39) M470L probably benign Het
Zmynd8 T C 2: 165,654,668 (GRCm39) K615E possibly damaging Het
Other mutations in Pnma1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4589:Pnma1 UTSW 12 84,194,235 (GRCm39) missense probably benign 0.00
R4748:Pnma1 UTSW 12 84,194,497 (GRCm39) missense probably benign 0.07
R5182:Pnma1 UTSW 12 84,193,819 (GRCm39) missense probably benign 0.23
R5763:Pnma1 UTSW 12 84,194,124 (GRCm39) missense possibly damaging 0.66
R6528:Pnma1 UTSW 12 84,194,197 (GRCm39) missense probably benign 0.07
R7493:Pnma1 UTSW 12 84,193,903 (GRCm39) missense probably damaging 1.00
R8079:Pnma1 UTSW 12 84,194,109 (GRCm39) missense probably damaging 1.00
R9032:Pnma1 UTSW 12 84,193,806 (GRCm39) missense probably benign 0.00
R9684:Pnma1 UTSW 12 84,193,941 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGTGCATCTCTAGAGCTCTCCA -3'
(R):5'- CTATCGAGTGCTGGGGAGAAT -3'

Sequencing Primer
(F):5'- CTTCAGGCATTCTGCGGTCG -3'
(R):5'- AAGCAGCCTTGTTAGAGCTC -3'
Posted On 2022-04-18